Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	Maybe_Pathogenic	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	SIFT_score	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_pred	LRT_score	LRT_pred	MutationTaster_score	MutationTaster_pred	MutationAssessor_score	MutationAssessor_pred	FATHMM_score	FATHMM_pred	RadialSVM_score	RadialSVM_pred	LR_score	LR_pred	VEST3_score	CADD_raw	CADD_phred	GERP++_RS	phyloP46way_placental	phyloP100way_vertebrate	SiPhy_29way_logOdds	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score.1	SIFT_converted_rankscore	SIFT_pred.1	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score.1	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred.1	Polyphen2_HVAR_score.1	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred.1	LRT_score.1	LRT_converted_rankscore	LRT_pred.1	LRT_Omega	MutationTaster_score.1	MutationTaster_converted_rankscore	MutationTaster_pred.1	MutationAssessor_score.1	MutationAssessor_rankscore	MutationAssessor_pred.1	FATHMM_score.1	FATHMM_converted_rankscore	FATHMM_pred.1	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw.1	CADD_raw_rankscore	CADD_phred.1	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS.1	GERP++_RS_rankscore	phyloP100way_vertebrate.1	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds.1	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES954	WT	HH	HZ	NC
chr1	1049591	1049591	G	A	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon26:c.G4540A:p.A1514T,	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	.	1	1509	11	1	0	13	0.00428901	.	.	133758	Congenital_myasthenic_syndrome_8|not_provided|not_specified	MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.63	T	0.0	B	0.001	B	0.775	N	1.000	N	-0.18	N	-1.26	T	-1.041	T	0.092	T	0.011	-1.109	0.135	-1.43	-0.840	-1.013	4.685	0.124	.	0.0079	0.00439297	0.0127	0.0034	0.0160	0	0.0162	0.0191	0.0174	0.0033	0.0063971	989	154602	rs111818381	0.0097	0.0096	0.0098	0.0095	0.0132	0.0095	0.0095	0.0108	0.0105	0.0017	0.0052	0.0245	2.588e-05	0.0050	0.0132	0.0107	0.0099	0.0032	0.0076	0.0076	0.0083	0.0070	0.0114	0.0073	0.0071	0.0107	0.0105	0.0025	0.0186	0.0061	0.0271	0	0.0040	0.0137	0.0114	0.0123	0.0014	0.594	0.05737	T	0.492	0.11479	T	.	.	.	.	.	.	0.775432	0.06622	N	1.189700	1	0.08975	N	-0.24	0.03895	N	-1.26	0.79176	T	-0.1	0.08495	N	0.029	0.01274	-1.0408	0.17071	T	0.092	0.35092	T	10	0.0125926435	0.00270	T	.	.	.	0.124	0.34239	.	.	0.532311620844	0.52880	0.288019120144922	0.28714	0.121177624655	0.13646	0.31646245718	0.12886	T	.	.	.	-0.621726	0.00107	T	-0.656448	0.08508	T	0.00027527997028188	0.00002	T	0.650635	0.27951	T	.	.	.	.	.	.	.	.	-3.481	0.16167	T	.	.	0.067	0.02399	B	.;.	.;.	-1.029988	0.00729	0.022	0.6430283435860078	0.07456	0.08718	0.14606	N	AEFBI	0.173096	0.30016	N	-2.0045347125353	0.00207	0.008864193	-1.9727795401957	0.00349	0.01542436	0.146950024583165	0.17375	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.51	-1.43	0.08418	-1.431000	0.02538	-3.787000	0.02537	-2.886000	0.00165	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2208:0.0951:0.5875:0.0967	4.685	0.12138	940	0.13648	.;Laminin G domain|Laminin G domain|Laminin G domain	RP11-54O7.17|RP11-54O7.17|AGRN|RP11-54O7.17|RP11-54O7.17|RP11-54O7.17	Artery_Aorta|Artery_Tibial|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Thyroid	.	.	rs111818381	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1867.98	35	chr1	1049591	.	G	A	1867.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.710e-01;DP=848;ExcessHet=0.0000;FS=0.644;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=-5.300e-02;SOR=0.633	GT:AD:DP:GQ:PL	0/1:65,70:135:99:1882,0,1696	20	0	1	0
chr1	1217728	1217728	C	T	exonic	SDF4	.	nonsynonymous SNV	SDF4:NM_016547:exon7:c.G968A:p.G323E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.051	B	0.016	B	.	.	1.000	N	.	.	2.8	T	-0.993	T	0.021	T	0.061	0.636	7.420	0.572	0.580	0.041	.	0.053	0.00276849591942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.853e-07	6.84e-07	1.363e-06	0	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.4	0.15010	T	0.051	0.22415	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	.	.	.	2.8	0.11082	T	2.47	0.00242	N	0.099	0.08088	-0.9928	0.31880	T	0.021	0.08778	T	7	0.043824613	0.03272	T	0.002768	0.05752	T	0.053	0.14996	0.559	0.67821	0.117506650769	0.11410	.	.	.	.	.	.	.	.	.	.	-0.405732	0.02122	T	-0.820583	0.01441	T	0.0436895338918375	0.04364	T	0.213579	0.02626	T	.	.	.	.	.	.	.	.	-3.913	0.22497	T	.	.	.	.	.	.	.	-0.057320	0.03902	0.858	0.82842622379049269	0.14404	0.00563	0.02562	N	AEFBI	0.025641	0.01792	N	-0.947188062003901	0.09755	0.4631308	-1.0978220548392	0.07742	0.3778497	0.775936911207487	0.23752	0.646311	0.45356	0	0.552637	0.17590	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	0.572	0.572	0.16542	-1.131000	0.03349	0.392000	0.17901	-0.421000	0.05231	0.000000	0.06391	0.003000	0.18671	0.002000	0.04165	.	.	.	789	0.46346	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2417.98	33	chr1	1217728	.	C	T	2417.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=865;ExcessHet=0.0000;FS=1.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.91;ReadPosRankSum=1.49;SOR=0.529	GT:AD:DP:GQ:PL	0/1:52,91:143:99:2432,0,1195	20	0	1	0
chr1	1419158	1419158	G	A	exonic	ANKRD65	.	nonsynonymous SNV	ANKRD65:NM_001145210:exon4:c.C1142T:p.A381V,	.	.	419	1053	49	1	0	51	0.0236439	.	.	2805485	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.0	B	.	.	1.000	N	0.205	N	-0.37	T	-1.061	T	0.073	T	0.034	0.617	7.320	-6.72	-1.962	-2.021	2.814	0.029	.	.	0.00399361	0.0098	0.0009	0	0.0020	0	0.0089	0.0152	0.0132	0.0014295	221	154602	rs185838741	0.0032	0.0030	0.0029	0.0035	0.0152	0.0031	0.0031	0.0126	0.0116	0.0004	0.0050	0.0111	8.462e-05	0.0002	0.0152	0.0026	0.0044	0.0096	0.0026	0.0026	0.0025	0.0028	0.0089	0.0024	0.0023	0.0068	0.0060	0.0006	0.0022	0.0043	0.0124	0.0004	0	0.0136	0.0030	0.0047	0.0089	1.0	0.00964	T	0.565	0.08961	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.37	0.68892	T	0.21	0.04776	N	0.051	0.02272	-1.0608	0.11557	T	0.073	0.29675	T	9	0.002860576	0.00046	T	.	.	.	0.029	0.06676	.	.	0.0401082797425	0.02173	0.2554336714957737	0.25457	.	.	0.436058402061	0.30039	T	0.002318	0.01710	T	-0.638598	0.00085	T	-0.683114	0.06795	T	0.000585412339857197	0.00005	T	0.272373	0.04609	T	0.01873701	0.00396	0.031370908	0.01718	0.01873701	0.00396	0.031370908	0.01717	-3.897	0.22258	T	.	.	0.085	0.10256	B	.;.	.;.	-0.576677	0.01637	0.114	0.5647402424843313	0.05560	0.01396	0.04737	N	AEFDBCI	0.032353	0.03640	N	-1.71344732906075	0.00795	0.03435849	-1.82266737138785	0.00689	0.0306899	0.999999114923721	0.74766	0.646311	0.45356	0	0.655437	0.61614	1	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.36	-6.72	0.01591	-3.435000	0.00524	-2.759000	0.03391	-0.361000	0.05505	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1274:0.1153:0.5451:0.2123	2.814	0.05116	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2356.98	96	chr1	1419158	.	G	A	2356.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.070e-01;DP=1297;ExcessHet=0.0000;FS=0.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.28;ReadPosRankSum=-1.239e+00;SOR=0.748	GT:AD:DP:GQ:PL	0/1:69,96:165:99:2371,0,1567	20	0	1	0
chr1	1615612	1615612	C	A	exonic	MIB2	.	stopgain	MIB2:NM_001170688:exon1:c.C153A:p.C51X,	.	.	405	1108	9	0	0	9	0.00404494	.	.	215186	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	2.923	15.74	0.434	-0.041	-1.236	3.998	.	.	0.0011	.	0.0042	0.0005	0.0031	0.0007	0	0.0078	0	0.0007	0.0009379	145	154602	rs199741261	0.0012	0.0012	0.0011	0.0012	0.0083	0.0011	0.0011	0.0064	0.0057	0.0002	0.0013	0.0298	0	0	0.0083	0.0005	0.0035	0.0005	0.0014	0.0014	0.0013	0.0014	0.0010	0.0012	0.0012	0.0007	0.0007	7.216e-05	0	0.0010	0.0343	0	0	0.0137	0.0009	0.0038	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.102	0.13055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.352183	0.04590	T	-0.308742	0.43794	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive	.;.;.;High	0.172966	0.05618	2.069	0.97635255178158264	0.35046	0.01743	0.05498	N	AEFGBHCIJ	0.031329	0.03323	N	-0.439352867474657	0.24103	1.299078	-0.853123424869877	0.13212	0.6841909	0.999999999604182	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	1.43	0.434	0.15752	-0.758000	0.04872	-2.227000	0.04029	-1.132000	0.01454	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7509:0.0:0.2491	3.998	0.09056	804	0.43891	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	500.98	34	chr1	1615612	.	C	A	500.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.660e-01;DP=744;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.63;ReadPosRankSum=-2.110e-01;SOR=0.709	GT:AD:DP:GQ:PL	0/1:27,25:52:99:515,0,562	20	0	1	0
chr1	1752908	1752908	-	CCTCCT	exonic	NADK	.	nonframeshift insertion	NADK:NM_001198995:exon10:c.1240_1241insAGGAGG:p.E413_G414insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0013	0.0013	0.0016	0	0.0018	0.0093	0.0161	0.0003074	8	26028	rs150880809	0.0039	0.0041	0.0034	0.0044	0.0211	0.0038	0.0038	0.0203	0.0200	0.0040	0.0042	0.0015	0.0026	0.0003	0.0130	0.0028	0.0048	0.0211	0.0044	0.0045	0.0041	0.0047	0.0232	0.0041	0.0040	0.0197	0.0184	0.0042	0.0111	0.0037	0.0012	0.0042	0.0006	0.0171	0.0038	0.0107	0.0232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22075.32	36	chr1	1752908	.	C	CCCT,CCCTCCT	22075.32	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-6.990e-01;DP=1313;ExcessHet=0.1361;FS=0.555;InbreedingCoeff=0.2741;MLEAC=14,1;MLEAF=0.333,0.024;MQ=59.91;MQRankSum=0.00;QD=26.12;ReadPosRankSum=0.088;SOR=0.757	GT:AD:DP:GQ:PL	0/1:44,42,0:86:99:1605,0,1720,1738,1846,3584	10	3	7	0
chr1	3385206	3385206	G	A	exonic	PRDM16	.	nonsynonymous SNV	PRDM16:NM_022114:exon4:c.G493A:p.A165T	Cardiomyopathy, dilated, 1LL, Autosomal dominant;Left ventricular noncompaction 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2222896	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.85	T	0.034	B	0.053	B	0.934	U	1.000	N	0.405	N	-2.0	D	-0.839	T	0.295	T	0.046	1.269	10.14	-0.919	-0.000	1.188	4.207	0.150	0.0409238329051	.	0.000199681	4.997e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs561382082	2.463e-05	2.463e-05	1.634e-05	3.301e-05	0.0003	1.804e-05	1.601e-05	0.0002	0.0002	0	0	0	0	0	0.0002	3.597e-06	3.312e-05	0.0003	1.313e-05	1.312e-05	1.285e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	0	0	0.0002	0.736	0.03741	T	1.0	0.21343	T	0.034	0.20480	B	0.053	0.25678	B	0.934466	0.07555	U	1.046120	1	0.19363	N	0.665	0.16292	N	-2.0	0.85393	D	0.47	0.03639	N	0.071	0.04668	-0.8387	0.52733	T	0.295	0.66688	T	10	0.054698765	0.05865	T	0.040924	0.59647	D	0.150	0.39571	0.615	0.74884	0.452830296012	0.44903	0.36021886360156674	0.35935	0.343996555423	0.36322	0.343262821436	0.16925	T	0.005557	0.31292	T	-0.352393	0.04578	T	-0.44364	0.28403	T	0.0434949312856537	0.04328	T	0.543646	0.18539	T	0.035080396	0.04062	0.057101283	0.10321	0.035080396	0.04062	0.057101283	0.10320	-4.164	0.26228	T	.	.	0.069	0.06205	B	.;.;.;.;.	.;.;.;.;.	1.179123	0.15696	12.04	0.90379807658624967	0.19642	0.42835	0.26965	N	AEFBI	0.104634	0.20930	N	-0.951830879454722	0.09652	0.4577258	-0.908494510681379	0.11894	0.6087018	0.0156756361442306	0.12742	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.31	-0.919	0.09946	0.741000	0.25870	0.810000	0.21743	-0.106000	0.15538	0.612000	0.27847	0.672000	0.26072	0.005000	0.06747	0.2188:0.0:0.3495:0.4317	4.207	0.09949	958	0.09170	SET domain|SET domain;.;SET domain|SET domain;SET domain|SET domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1554.98	35	chr1	3385206	.	G	A	1554.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.365;DP=917;ExcessHet=0.0000;FS=0.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=-4.480e-01;SOR=0.595	GT:AD:DP:GQ:PL	0/1:77,66:143:99:1569,0,1863	20	0	1	0
chr1	3595400	3595400	C	G	exonic	MEGF6	.	nonsynonymous SNV	MEGF6:NM_001409:exon3:c.G314C:p.R105P,	.	.	.	.	.	.	.	.	.	.	.	2222867	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.811	P	0.296	B	0.001	U	1.000	D	1.245	L	-1.91	D	-0.538	T	0.359	T	0.523	1.643	11.45	1.83	0.792	1.946	3.770	0.504	0.217590128273	.	.	7.755e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs570659251	3.355e-05	3.352e-05	2.453e-05	4.267e-05	0.0005	2.568e-05	2.314e-05	0.0004	0.0004	0	0	0	0	0	0.0002	8.993e-07	3.313e-05	0.0005	1.314e-05	1.312e-05	0	2.687e-05	0.0004	2.18e-06	8.2e-07	7.299e-05	3.032e-05	0	0	0	0	0	0	0	0	0	0.0004	0.079	0.33753	T	0.012	0.63918	D	0.811	0.45403	P	0.296	0.40883	B	0.001065	0.40389	U	0.164638	0.938805	0.37238	D	1.87	0.49600	L	-1.91	0.84701	D	-2.15	0.48687	N	0.657	0.66700	-0.5380	0.67239	T	0.359	0.72100	T	10	0.6333345	0.68641	D	0.21759	0.87616	D	0.504	0.78600	.	.	0.863069828929	0.86174	0.7958389332097392	0.79536	0.431838473418	0.43370	0.316354781389	0.12868	T	0.008467	0.07774	T	-0.195849	0.21403	T	-0.169669	0.57473	T	0.143979895853523	0.16613	T	0.70183	0.31167	T	0.38456506	0.59644	0.28506035	0.54507	0.38456506	0.59645	0.28506035	0.54506	-11.677	0.83242	D	.	.	0.441	0.61770	A	.	.	2.566236	0.33247	19.28	0.98652173266084398	0.44206	0.77385	0.38042	D	AEFBI	0.704323	0.66007	D	-0.214141641732956	0.32553	1.837075	-0.264019787031261	0.29293	1.639974	0.0527083941737812	0.14915	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.92	1.83	0.24279	0.712000	0.25450	-0.049000	0.12570	0.547000	0.25779	0.980000	0.35271	0.028000	0.21151	0.196000	0.21779	0.0:0.4727:0.0:0.5273	3.770	0.08160	976	0.04745	EMI domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2000.98	34	chr1	3595400	.	C	G	2000.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.103;DP=893;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=1.98;SOR=0.671	GT:AD:DP:GQ:PL	0/1:70,88:158:99:2015,0,1549	20	0	1	0
chr1	5947226	5947226	C	T	exonic	NPHP4	.	nonsynonymous SNV	NPHP4:NM_015102:exon9:c.G997A:p.G333R,	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	269754	not_provided|Nephronophthisis|Nephronophthisis_4|Senior-Loken_syndrome_4	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0011752,MedGen:C1847013,OMIM:606966,Orphanet:655|MONDO:MONDO:0011756,MedGen:C1846979,OMIM:606996,Orphanet:3156	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.77	T	0.534	P	0.061	B	0.078	N	0.608	N	1.21	L	-2.3	D	-0.420	T	0.383	T	0.512	-0.840	0.573	4.28	2.517	2.098	9.894	0.379	0.0959839119573	.	.	2.496e-05	0	0	0	0	3.014e-05	0	6.072e-05	1.94e-05	3	154602	rs772219240	4.038e-05	4.036e-05	4.085e-05	3.989e-05	0.0002	3.18e-05	2.912e-05	4.358e-05	2.767e-05	0	0.0001	0	5.039e-05	0	0.0002	4.048e-05	3.314e-05	4.641e-05	3.943e-05	3.94e-05	1.285e-05	6.727e-05	0.0001	1.716e-05	1.13e-05	2.261e-05	9.07e-06	0	0.0011	0.0001	0	0	0	0	4.409e-05	0	0	0.209	0.19710	T	0.643	0.07741	T	0.534	0.37787	P	0.061	0.26820	B	0.078225	0.21056	N	0.438126	0.60832	0.30882	N	2.125	0.59049	M	-2.3	0.87671	D	-1.8	0.42384	N	0.43	0.46928	-0.4196	0.71406	T	0.383	0.73936	T	10	0.22985962	0.39923	T	0.095984	0.76525	D	0.379	0.69696	0.327	0.31034	0.86942058287	0.86815	0.3990504128101688	0.39820	0.0883067094732	0.09977	0.556887805462	0.46829	T	0.174197	0.52333	T	-0.0938767	0.37434	T	-0.146922	0.59515	T	0.100564956665039	0.12419	T	0.764624	0.40135	T	0.04481953	0.07229	0.08090848	0.18344	0.04481953	0.07229	0.08090848	0.18343	-3.488	0.19643	T	0.6786052531172994	0.75467	0.180	0.48531	B	.;.	.;.	2.729221	0.35717	19.97	0.59153087073030663	0.06157	0.41532	0.26678	N	AEFDBI	0.176749	0.30396	N	-0.328607667288552	0.28066	1.544967	-0.267896387905324	0.29163	1.631671	0.151560002592786	0.17449	0.706548	0.73137	0	0.724815	0.89359	0	0.786243	0.99158	0	0.699875	0.68795	0	.	.	5.39	4.28	0.50183	1.095000	0.30575	4.587000	0.43943	0.599000	0.40250	0.015000	0.19116	0.999000	0.35428	0.113000	0.18872	0.0:0.8918:0.0:0.1082	9.894	0.40478	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	474.98	33	chr1	5947226	.	C	T	474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=733;ExcessHet=0.0000;FS=4.223;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.64;ReadPosRankSum=0.446;SOR=1.460	GT:AD:DP:GQ:PL	0/1:35,20:55:99:489,0,876	20	0	1	0
chr1	6445936	6445936	G	A	splicing	ESPN	NM_001367473:exon7:c.1464+1G>A;NM_001367474:exon7:c.1464+1G>A;NM_031475:exon7:c.1464+1G>A	.	.	Deafness, autosomal recessive 36, Autosomal recessive;Deafness, neurosensory, without vestibular involvement, autosomal dominant (3)	YES	.	.	.	.	.	.	.	1.0000	0.944	442877	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_36	MedGen:C3661900|MONDO:MONDO:0012170,MedGen:C1837007,OMIM:609006,Orphanet:90636	criteria_provided,_multiple_submitters,_no_conflicts	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.566	18.17	4.35	2.250	6.153	15.62	.	.	.	.	1.721e-05	0	0	0	0	1.571e-05	0	6.187e-05	1.29e-05	2	154602	rs752649606	1.233e-05	1.231e-05	5.45e-06	1.927e-05	0.0002	7.7e-06	6.36e-06	0.0001	8.655e-05	0	0	0	0	0	0	8.995e-07	3.314e-05	0.0002	1.315e-05	1.313e-05	0	2.69e-05	0.0004	2.19e-06	8.2e-07	7.307e-05	3.035e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17297	0.71396	D	0.214283	0.83886	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	6.117038	0.94599	34	0.99545362843443475	0.70773	0.77108	0.37877	D	AEFGBCI	.	.	.	0.99641452250496	0.95632	13.80947	0.804337271990419	0.90091	10.25321	0.9999999999998	0.74766	0.056701	0.00814	0	0.063554	0.01753	0	0.074216	0.02223	0	0.079188	0.02158	0	0.956349	0.63754	4.35	4.35	0.51454	4.900000	0.62939	9.645000	0.81157	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:0.0:1.0:0.0	15.62	0.76548	834	0.38640	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1199.98	34	chr1	6445936	.	G	A	1199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.844e+00;DP=831;ExcessHet=0.0000;FS=1.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.93;MQRankSum=1.11;QD=11.01;ReadPosRankSum=-1.019e+00;SOR=0.504	GT:AD:DP:GQ:PL	0/1:50,59:109:99:1214,0,1083	20	0	1	0
chr1	10639087	10639098	TCGTCGTCGTCC	-	exonic	CASZ1	.	nonframeshift deletion	CASZ1:NM_001079843:exon21:c.5124_5135del:p.E1708_D1711del,	.	.	549	931	4	1	37	43	0.00321199	.	.	695942	CASZ1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055	.	0.0073	0.0067	0.0030	0.0057	0.0025	0.0096	0.0065	0.0059	0.0002689	7	26028	rs770782033	0.0070	0.0056	0.0072	0.0068	0.0076	0.0069	0.0068	0.0074	0.0073	0.0018	0.0010	0.0007	0.0035	0.0018	0.0032	0.0076	0.0058	0.0066	0.0058	0.0057	0.0062	0.0054	0.0082	0.0055	0.0053	0.0076	0.0074	0.0023	0.0011	0.0064	0.0016	0.0058	0.0016	0.0165	0.0082	0.0097	0.0078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	307.44	13	chr1	10639086	.	GTCGTCGTCGTCC	G,*	307.44	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=0.869;DP=416;ExcessHet=0.3300;FS=1.130;InbreedingCoeff=-0.0911;MLEAC=1,2;MLEAF=0.025,0.050;MQ=60.00;MQRankSum=0.00;QD=6.99;ReadPosRankSum=1.92;SOR=0.527	GT:AD:DP:GQ:PL	0/2:6,0,10:16:99:402,420,672,0,252,222	17	0	1	1
chr1	10639086	10639098	GTCGTCGTCGTCC	0	exonic	CASZ1	.	.	.	.	.	549	931	4	1	37	43	0.00321199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	307.44	13	chr1	10639086	.	GTCGTCGTCGTCC	G,*	307.44	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=0.869;DP=416;ExcessHet=0.3300;FS=1.130;InbreedingCoeff=-0.0911;MLEAC=1,2;MLEAF=0.025,0.050;MQ=60.00;MQRankSum=0.00;QD=6.99;ReadPosRankSum=1.92;SOR=0.527	GT:AD:DP:GQ:PL	0/2:6,0,10:16:99:402,420,672,0,252,222	17	0	1	1
chr1	12827504	12827504	T	G	exonic	PRAMEF11	.	nonsynonymous SNV	PRAMEF11:NM_001146344:exon3:c.A620C:p.D207A,	.	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	.	.	.	.	0.847	N	1.000	N	1.14	L	2.33	T	-0.966	T	0.035	T	0.238	0.009	4.063	0.151	0.026	-0.278	4.247	0.024	0.000807688610383	.	0.00259585	0.0066	0.0021	0.0026	0	0.0076	0.0099	0.0079	0.0019	0.0054462	842	154602	rs199735292	0.0085	0.0085	0.0087	0.0083	0.0101	0.0084	0.0083	0.0099	0.0099	0.0015	0.0020	0.0009	2.534e-05	0.0080	0.0017	0.0101	0.0066	0.0023	0.0067	0.0067	0.0073	0.0060	0.0104	0.0064	0.0062	0.0097	0.0095	0.0014	0.1044	0.0021	0.0023	0.0006	0.0094	0	0.0104	0.0019	0.0030	.	.	.	0.088	0.40586	T	.	.	.	.	.	.	0.846699	0.07032	N	1.070770	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.339	0.38027	-1.0357	0.18637	T	0.085	0.33241	T	10	0.0035685897	0.00064	T	.	.	.	.	.	.	.	0.0954503805726	0.09146	0.40119644950782735	0.40034	.	.	0.622940897942	0.56144	T	.	.	.	-0.401773	0.02254	T	-0.340501	0.40286	T	0.031728995170636	0.02263	T	.	.	.	0.044987593	0.07285	0.03659959	0.03140	0.044987593	0.07285	0.03659959	0.03139	-9.145	0.68625	D	.	.	0.163	0.35890	B	.	.	1.322727	0.17269	13.06	0.98432758145970789	0.41420	0.00627	0.02761	N	AEFDI	0.020916	0.00876	N	-0.324940864453843	0.28204	1.553695	-0.621401454715815	0.18944	1.014246	2.65819391898374E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	1.48	0.21900	-0.450000	0.06877	-3.192000	0.02983	-0.226000	0.07819	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.0:0.0:1.0	5.132	0.14245	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	6133.98	224	chr1	12827504	.	T	G	6133.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.57;DP=3633;ExcessHet=0.0000;FS=0.521;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.31;MQRankSum=0.569;QD=12.65;ReadPosRankSum=0.603;SOR=0.708	GT:AD:DP:GQ:PL	0/1:256,229:485:99:6148,0,6455	20	0	1	0
chr1	13224904	13224904	A	T	exonic	PRAMEF18;PRAMEF22	.	nonsynonymous SNV	PRAMEF18:NM_001099850:exon2:c.T817A:p.Y273N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294938	0.14701	N	0.663886	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9919	0.32115	T	0.168	0.50713	T	10	0.24546862	0.41795	T	0.03869	0.58371	D	.	.	0.484	0.56621	0.245660935333	0.24156	0.23412053064863528	0.23327	.	.	0.736096382141	0.72397	T	0.097991	0.40137	T	-0.184472	0.23074	T	-0.502757	0.22063	T	0.583659172058105	0.35759	D	.	.	.	0.03243776	0.03270	0.039548032	0.04072	0.03243776	0.03270	0.039548032	0.04072	-6.197	0.47898	T	.	.	0.293	0.52426	B	.	.	0.588558	0.09571	6.345	0.89194505957382364	0.18590	0.00933	0.03615	N	AEI	0.031887	0.03496	N	-0.440429543044863	0.24065	1.296842	-0.719096555841804	0.16485	0.8723112	2.24725615356947E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.32	1.32	0.20897	-1.031000	0.03689	-20.000000	0.00162	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	1.0:0.0:0.0:0.0	4.799	0.12655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	644.98	33	chr1	13224904	.	A	T	644.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=898;ExcessHet=0.0000;FS=3.690;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.82;ReadPosRankSum=-3.590e-01;SOR=1.076	GT:AD:DP:GQ:PL	0/1:135,34:169:99:659,0,3794	20	0	1	0
chr1	15518245	15518245	C	T	exonic	CASP9	.	nonsynonymous SNV	CASP9:NM_001229:exon2:c.G283A:p.A95T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.073	B	0.06	B	0.141	N	1.000	N	0.895	L	4.64	T	-0.936	T	0.014	T	0.276	1.481	10.90	1.3	0.164	-0.009	4.527	0.028	0.00506188088607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.194	0.27783	T	0.484	0.16086	T	0.073	0.24078	B	0.06	0.26717	B	0.141159	0.18286	N	0.585612	0.999994	0.08975	N	1.24	0.30952	L	4.62	0.07920	T	-0.74	0.21429	N	0.074	0.13769	-0.9358	0.43272	T	0.014	0.05417	T	10	0.053319484	0.05503	T	0.005062	0.12815	T	0.028	0.06331	0.254	0.19378	0.392702134506	0.38879	0.24656893987794953	0.24570	0.116016811942	0.13085	0.25747859478	0.04595	T	0.102883	0.41102	T	-0.256968	0.13258	T	-0.606893	0.12239	T	0.0615760572254658	0.07414	T	0.579442	0.27600	T	0.14816163	0.33838	0.08891712	0.20761	0.14816163	0.33837	0.08891712	0.20760	-3.89	0.22152	T	.	.	0.080	0.27910	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.452592	0.08228	4.965	0.83915295214700614	0.14992	0.14802	0.18593	N	AEFDBI	0.138554	0.25989	N	-1.40255826153729	0.02616	0.1157809	-1.42818620782576	0.02973	0.137829	0.956065343669796	0.28225	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	3.29	1.3	0.20778	-0.072000	0.11446	-0.311000	0.10039	-1.753000	0.00686	0.164000	0.23853	0.002000	0.18203	0.004000	0.06068	0.2166:0.6563:0.0:0.127	4.527	0.11393	911	0.21964	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	596.83	142	chr1	15518245	.	C	T	596.83	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.421e+00;DP=1813;ExcessHet=1.7912;FS=165.634;InbreedingCoeff=-0.1592;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=0.402;SOR=11.152	GT:AD:DP:GQ:PL	0/1:120,33:153:5:5,0,2588	15	0	6	0
chr1	15929667	15929667	C	T	exonic	SPEN	.	nonsynonymous SNV	SPEN:NM_015001:exon11:c.C3427T:p.R1143C,	.	.	431	1083	8	0	0	8	0.00367985	.	.	3208072	SPEN-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.002	B	0.001	B	.	.	1.000	N	-1.1	N	3.09	T	-0.958	T	0.008	T	0.065	0.215	5.159	3.13	0.585	2.229	4.939	0.059	0.00323857580161	0.0004	0.000399361	0.0005	9.988e-05	0.0003	0	0	0.0007	0.0011	0.0008	0.0004722	73	154602	rs145802445	0.0003	0.0003	0.0002	0.0003	0.0024	0.0003	0.0003	0.0015	0.0012	5.976e-05	0.0002	0	0	0	0.0024	0.0003	0.0005	0.0010	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	4.815e-05	0	0	0	0	0	0	0.0004	0.0005	0.0010	0.132	0.26519	T	0.306	0.19972	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	0.999984	0.18198	N	0	0.06538	N	3.09	0.08371	T	-1.59	0.38345	N	0.08	0.05542	-0.9583	0.39497	T	0.008	0.02884	T	9	0.013141364	0.00280	T	0.003239	0.07147	T	0.059	0.16972	.	.	0.082315109003	0.07666	0.10271011754872392	0.10201	0.314982508774	0.33775	0.218506008387	0.01225	T	0.57242	0.85865	D	-0.626132	0.00101	T	-0.744977	0.03685	T	0.01737310426068	0.00475	T	0.80372	0.45098	T	0.06449365	0.13690	0.048732556	0.07301	0.06449365	0.13690	0.048732556	0.07300	-7.142	0.55064	T	.	.	0.075	0.05579	B	.	.	2.811054	0.37005	20.4	0.80941301008218236	0.13442	0.68108	0.33678	D	AEFBCIJ	0.067842	0.13355	N	-0.473013561037891	0.22967	1.230	-0.242927380161229	0.30014	1.686425	0.00591882869419845	0.11077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	3.13	0.35090	2.856000	0.48040	2.831000	0.35021	0.599000	0.40250	0.998000	0.41325	0.698000	0.26216	0.988000	0.63387	0.0:0.6445:0.2198:0.1356	4.939	0.13305	419	0.81524	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	12453.11	293	chr1	15929667	.	C	T	12453.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=6.19;DP=5124;ExcessHet=0.1072;FS=3.263;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=0.050;SOR=0.938	GT:AD:DP:GQ:PL	0/1:233,258:491:99:6890,0,5803	19	0	2	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	41030.51	718	chr1	16563946	.	C	T	41030.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=0.258;DP=13151;ExcessHet=30.0624;FS=0.000;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=59.21;MQRankSum=-8.750e+00;QD=3.71;ReadPosRankSum=0.088;SOR=0.664	GT:AD:DP:GQ:PL	0/1:388,191:579:99:4604,0,10730	3	0	18	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	47598.51	991	chr1	16563989	.	G	C	47598.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-8.780e-01;DP=17388;ExcessHet=30.0624;FS=0.000;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=59.70;MQRankSum=-4.782e+00;QD=3.12;ReadPosRankSum=0.231;SOR=0.674	GT:AD:DP:GQ:PL	0/1:536,261:797:99:5757,0,13866	3	0	18	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4048	106526.9	1008	chr1	16564107	.	T	G	106526.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.422e+00;DP=17757;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=55.80;MQRankSum=6.43;QD=7.02;ReadPosRankSum=0.689;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:403,365:768:99:.:.:12714,0,12431	4	0	17	0
chr1	16564112	16564112	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	382	776	360	4	0	368	0.191667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0308	.	0.2106	0.0561	0.2861	0.0502	0.2065	0.2398	0.2097	0.2357	0.0002305	6	26028	rs200783506	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.031	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.0030666888	0.00051	T	.	.	.	.	.	.	.	.	.	0.05765086588271105	0.05706	.	.	0.524779081345	0.42300	T	.	.	.	-0.62494	0.00103	T	-0.595706	0.13176	T	.	.	.	0.79772	0.47570	T	.	.	.	.	.	.	.	.	-5.516	0.42017	T	.	.	0.264	0.49845	B	.;.	.;.	0.535560	0.09040	5.825	0.31427375372166372	0.01770	0.01195	0.04267	N	AEFDBHCI	0.026313	0.01952	N	.	.	.	.	.	.	5.56753264327555E-4	0.07304	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	0.566	0.16501	-1.612000	0.02163	-12.383000	0.00529	-0.617000	0.04568	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	19191.79	994	chr1	16564112	.	G	A	19191.79	.	AC=13;AF=0.325;AN=40;BaseQRankSum=1.44;DP=16699;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.325;MQ=55.13;MQRankSum=4.65;QD=1.72;ReadPosRankSum=0.230;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:485,261:746:99:.:.:5711,0,18065	7	0	13	1
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4762	99791.4	773	chr1	16564144	.	C	T	99791.4	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.121e+00;DP=14037;ExcessHet=43.6797;FS=0.578;InbreedingCoeff=-0.9210;MLEAC=20;MLEAF=0.476;MQ=53.77;MQRankSum=-1.899e+01;QD=7.70;ReadPosRankSum=0.116;SOR=0.802	GT:AD:DP:GQ:PL	0/1:406,156:562:99:3399,0,15046	1	0	20	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	110456.43	755	chr1	16564149	.	C	T	110456.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-9.900e-01;DP=13366;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.66;MQRankSum=7.55;QD=8.81;ReadPosRankSum=-3.670e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/1:249,300:549:99:8577,0,8179	1	0	20	0
chr1	16567226	16567226	A	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	324	803	395	0	0	395	0.197401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195	.	0.1438	0.0722	0.1053	0.1226	0.1691	0.1504	0.1502	0.1896	0.10516	16258	154602	rs201533998	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.594e-05	0.0001	8.876e-05	0	5.065e-05	0.0007	0.0001	0	0	0.0001	0.0001	0.0001	3.682e-05	0.0001	7.054e-05	0	0.0002	1.377e-05	8.82e-06	1.31e-05	6.63e-06	0	0	0	0.0003	0.0002	0	0	4.936e-05	0	0	.	.	.	0.023	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37093	.	.	.	.	.	.	.	0.0041511655	0.00082	T	.	.	.	.	.	.	.	.	.	0.023240658769933194	0.02276	.	.	0.600396811962	0.52961	T	.	.	.	-0.583903	0.00182	T	-0.597232	0.13045	T	.	.	.	0.937806	0.76632	D	.	.	.	.	.	.	.	.	-6.372	0.49291	T	.	.	0.237	0.50016	B	.;.	.;.	1.595410	0.20400	14.73	0.33525994525903774	0.02002	0.02869	0.07640	N	AEFDBHCIJ	0.038534	0.05466	N	.	.	.	.	.	.	0.473035393726149	0.20723	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	-0.142000	0.10293	-1.937000	0.04467	0.256000	0.18359	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.1429	7171.99	1271	chr1	16567226	.	A	C	7171.99	.	AC=6;AF=0.143;AN=42;BaseQRankSum=0.095;DP=12314;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1651;MLEAC=6;MLEAF=0.143;MQ=57.63;MQRankSum=-1.564e+00;QD=0.89;ReadPosRankSum=0.304;SOR=0.650	GT:AD:DP:GQ:PL	0/1:1230,134:1364:13:13,0,32999	15	0	6	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6554.32	70	chr1	16579293	.	A	G	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=1.87;DP=1441;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-7.480e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,18:75:99:0|1:16579293_A_G:565,0,2339:16579293	0	0	19	2
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	6554.32	70	chr1	16579294	.	T	C	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-5.460e+00;DP=1432;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-9.680e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,18:75:99:0|1:16579293_A_G:565,0,2339:16579293	0	0	19	2
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	3659.58	71	chr1	16579305	.	G	A	3659.58	.	AC=18;AF=0.429;AN=42;BaseQRankSum=3.29;DP=1401;ExcessHet=30.0624;FS=127.752;InbreedingCoeff=-0.7505;MLEAC=18;MLEAF=0.429;MQ=35.79;MQRankSum=0.355;QD=3.02;ReadPosRankSum=-7.570e-01;SOR=8.098	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,13:73:99:.:.:318,0,1819	3	0	18	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.3095	1830.34	67	chr1	16579308	.	G	C	1830.34	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.233;DP=1379;ExcessHet=11.8493;FS=101.562;InbreedingCoeff=-0.4491;MLEAC=13;MLEAF=0.310;MQ=35.77;MQRankSum=0.401;QD=2.26;ReadPosRankSum=-6.640e-01;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,6:71:18:.:.:18,0,2686	8	0	13	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26,	.	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	13930.12	129	chr1	16759590	.	G	GC	13930.12	.	AC=26;AF=0.619;AN=42;BaseQRankSum=5.56;DP=1816;ExcessHet=4.5793;FS=24.066;InbreedingCoeff=-0.2117;MLEAC=26;MLEAF=0.619;MQ=45.00;MQRankSum=-3.164e+00;QD=9.41;ReadPosRankSum=-3.895e+00;SOR=1.240	GT:AD:DP:GQ:PL	1/1:0,23:23:69:795,69,0	2	7	12	0
chr1	19238028	19238028	G	A	exonic	EMC1	.	nonsynonymous SNV	EMC1:NM_001271429:exon10:c.C1135T:p.R379W	Cerebellar atrophy, visual impairment, and psychomotor retardation, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	987070	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.859	P	0.000	D	1.000	D	1.59	L	1.88	T	-0.757	T	0.259	T	0.577	4.642	25.5	6.17	2.941	4.516	15.114	0.123	0.0135088553734	.	.	0.0002	0.0001	9.321e-05	0	0	0	0	0.0011	0.0001229	19	154602	rs778418940	8.074e-05	8.14e-05	5.31e-05	0.0001	0.0012	6.87e-05	6.422e-05	0.0010	0.0009	5.975e-05	2.24e-05	0	0	0	0	4.497e-06	0.0001	0.0012	5.912e-05	5.909e-05	3.853e-05	8.068e-05	0.0014	3.076e-05	2.209e-05	0.0007	0.0005	4.823e-05	0	0	0	0	0	0	0	0	0.0014	0.005	0.65419	D	0.017	0.60337	D	0.998	0.73220	D	0.727	0.60373	P	0.000031	0.55875	D	0.152878	0.992398	0.41633	D	1.1	0.28011	L	1.88	0.24085	T	-1.27	0.31981	N	0.602	0.62950	-0.7568	0.57578	T	0.259	0.63021	T	10	0.15790883	0.29707	T	0.013509	0.32968	T	0.226	0.52472	0.446	0.50466	0.524428966543	0.52088	0.5936250769215557	0.59292	0.550267892348	0.51893	0.410712629557	0.26556	T	0.015109	0.12739	T	-0.354568	0.04447	T	-0.33253	0.41188	T	0.0991138419228976	0.12259	T	0.96937	0.88985	D	0.10463755	0.24737	0.05732929	0.10402	0.10463755	0.24737	0.05732929	0.10401	-5.906	0.45664	T	0.6818623878253498	0.75836	0.105	0.20274	B	.;.;.	.;.;.	5.035481	0.83781	28.1	0.99930011405688934	0.99334	0.95306	0.64209	D	AEFBI	0.699664	0.65694	D	0.448494020479418	0.64118	4.659287	0.555346564115973	0.71771	5.705767	0.705139732175109	0.22749	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	4.587000	0.60702	7.624000	0.62436	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.858:0.142	15.114	0.72054	779	0.47767	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1238.98	33	chr1	19238028	.	G	A	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=807;ExcessHet=0.0000;FS=4.634;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=-1.219e+00;SOR=1.117	GT:AD:DP:GQ:PL	0/1:61,52:113:99:1253,0,1397	20	0	1	0
chr1	20343196	20343196	G	A	exonic	VWA5B1	.	nonsynonymous SNV	VWA5B1:NM_001039500:exon16:c.G2429A:p.G810D	.	.	425	1089	8	0	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.235	B	0.144	B	0.014	U	1.000	D	0.805	L	2.7	T	-1.055	T	0.030	T	0.452	1.938	12.44	3.89	1.712	8.038	14.496	0.164	.	.	0.00339457	0.0062	0.0033	0	0	0	0.0008	0	0.0105	0.0007438	115	154602	rs574725504	0.0007	0.0007	0.0005	0.0009	0.0086	0.0007	0.0006	0.0081	0.0078	6.332e-05	0.0004	0	0	4.186e-05	0.0023	0.0002	0.0011	0.0086	0.0007	0.0007	0.0006	0.0008	0.0120	0.0006	0.0006	0.0096	0.0087	9.65e-05	0	0.0012	0	0	0	0	0.0004	0.0005	0.0120	0.185	0.21801	T	0.144	0.33109	T	0.026	0.30743	B	0.02	0.33818	B	0.014458	0.28529	U	0.320691	0.876946	0.35673	D	2.36	0.67893	M	2.7	0.12162	T	-1.48	0.36189	N	0.399	0.43995	-1.0549	0.13066	T	0.030	0.12717	T	10	0.008074075	0.00183	T	.	.	.	0.164	0.42212	.	.	0.0611884634855	0.05136	0.7872900127252621	0.78681	.	.	0.855669617653	0.90467	D	0.012853	0.11224	T	-0.419543	0.01722	T	-0.370012	0.36887	T	0.0753306984964005	0.09380	T	0.776522	0.40874	T	0.21662864	0.44125	0.379327	0.62990	0.21662864	0.44125	0.379327	0.62990	-8.43	0.64137	D	.	.	0.861	0.82911	P	.;.	.;.	3.419368	0.47472	22.5	0.98498831594504543	0.42192	0.97040	0.72342	D	AEFDBHCI	0.902380	0.85021	D	-0.173117746772343	0.34257	1.953157	-0.0682288141098925	0.36712	2.140011	0.999998942652035	0.74766	0.437478	0.07067	0	0.578056	0.33634	0	0.606814	0.37721	0	0.562822	0.20929	0	.	.	3.89	3.89	0.44098	7.774000	0.84234	11.270000	0.91373	0.560000	0.28382	1.000000	0.71638	1.000000	0.68203	0.424000	0.27317	0.0:0.0:1.0:0.0	14.496	0.67267	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1855.98	40	chr1	20343196	.	G	A	1855.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.380e-01;DP=875;ExcessHet=0.0000;FS=1.230;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=-8.900e-02;SOR=0.707	GT:AD:DP:GQ:PL	0/1:83,79:162:99:1870,0,2043	20	0	1	0
chr1	21649771	21649771	G	A	exonic	RAP1GAP	.	nonsynonymous SNV	RAP1GAP:NM_001145658:exon2:c.C70T:p.R24W,	.	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	0.001	U	1.000	D	0	N	1.49	T	-0.580	T	0.467	T	0.192	2.399	13.98	1.17	0.143	1.393	4.890	0.102	.	0.0001	0.00199681	0.0026	0.0005	0	0	0	0	0	0.0066	0.000511	79	154602	rs372126308	0.0005	0.0005	0.0003	0.0007	0.0078	0.0004	0.0004	0.0073	0.0071	0.0001	8.389e-05	0	8.392e-05	0	0.0004	1.667e-05	0.0004	0.0078	0.0003	0.0003	0.0002	0.0004	0.0075	0.0002	0.0002	0.0055	0.0049	4.817e-05	0	6.545e-05	0	0.0002	0	0	1.471e-05	0.0005	0.0075	.	.	.	0.043	0.49942	D	.	.	.	.	.	.	0.001482	0.00791	U	4.758310	0.999999	0.58761	D	.	.	.	.	.	.	.	.	.	0.429	0.46835	-0.5799	0.65621	T	0.467	0.79427	T	8	0.00734967	0.00167	T	.	.	.	.	.	.	.	0.043077524339	0.03247	.	.	.	.	0.48719805479	0.37051	T	.	.	.	-0.452305	0.01095	T	-0.418755	0.31219	T	0.0663841239476688	0.08134	T	0.623338	0.24021	T	.	.	.	.	.	.	.	.	-5.189	0.38830	T	.	.	0.104	0.18705	B	.	.	2.236522	0.28556	17.84	0.9955163241877435	0.71211	0.77258	0.37966	D	AEFBI	0.511086	0.53986	D	-0.188058547191386	0.33630	1.910178	-0.141975891657636	0.33718	1.931721	0.990248088793122	0.32087	0.676563	0.55306	0	0.627178	0.54094	0	0.673471	0.61138	0	0.616125	0.45549	0	.	.	4.31	1.17	0.19998	1.408000	0.34277	1.194000	0.24787	0.676000	0.76740	0.999000	0.42656	0.001000	0.17328	0.850000	0.40195	0.1034:0.0:0.5232:0.3734	4.890	0.13079	771	0.49057	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2211.98	38	chr1	21649771	.	G	A	2211.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=871;ExcessHet=0.0000;FS=1.977;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=0.899;SOR=0.885	GT:AD:DP:GQ:PL	0/1:75,85:160:99:2226,0,1682	20	0	1	0
chr1	24093064	24093064	C	A	exonic	MYOM3	.	nonsynonymous SNV	MYOM3:NM_152372:exon10:c.G973T:p.D325Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.977	D	0.192	N	0.999	N	1.78	L	0.87	T	-0.719	T	0.186	T	0.566	2.034	12.76	1.97	0.532	0.244	7.439	0.265	0.0311769473386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.024	0.56640	D	1.0	0.90584	D	0.977	0.73820	D	0.192204	0.16817	N	0.633982	0.548114	0.31357	N	2.28	0.64929	M	0.87	0.46412	T	-4.1	0.74900	D	0.654	0.66443	-0.7194	0.59493	T	0.186	0.53586	T	10	0.7827445	0.77990	D	0.031177	0.53322	D	0.265	0.57870	0.639	0.77579	0.297718772494	0.29385	0.6603939099748367	0.65976	0.448473399191	0.44675	0.346591860056	0.17419	T	0.050694	0.28669	T	-0.0995617	0.36497	T	-0.38079	0.35629	T	0.958781361579895	0.65362	D	0.788921	0.42853	T	0.18984699	0.40543	0.18631491	0.41797	0.18984699	0.40543	0.18631491	0.41796	-7.452	0.57272	T	.	.	0.454	0.62391	A	.	.	2.175445	0.27729	17.56	0.99066417800908524	0.51621	0.33925	0.24946	N	AEFBI	0.196728	0.32369	N	0.0163627433523658	0.42600	2.569802	-0.141860088916075	0.33722	1.932026	0.837755799562903	0.24810	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.14	1.97	0.25278	0.051000	0.14025	0.449000	0.18503	0.599000	0.40250	0.003000	0.16062	0.050000	0.21810	0.218000	0.22407	0.0:0.5872:0.3228:0.09	7.439	0.26344	410	0.82135	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1517.98	42	chr1	24093064	.	C	A	1517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.131e+00;DP=951;ExcessHet=0.0000;FS=0.602;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=-9.000e-01;SOR=0.801	GT:AD:DP:GQ:PL	0/1:85,68:153:99:1532,0,2079	20	0	1	0
chr1	24379817	24379817	G	A	exonic	STPG1	.	stopgain	STPG1:NM_178122:exon4:c.C157T:p.R53X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	2.537	14.44	3.83	0.710	2.419	11.294	.	.	.	.	1.655e-05	0	0	0.0001	0	0	0	6.088e-05	1.29e-05	2	154602	rs764327921	3.421e-06	4.104e-06	5.446e-06	1.375e-06	7.559e-05	1e-06	7.3e-07	2.004e-05	1.055e-05	0	0	0	7.559e-05	0	0	8.995e-07	0	1.16e-05	1.314e-05	1.97e-05	0	2.691e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000004	0.62929	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.339	0.38027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250437	0.78644	D	0.291087	0.87740	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.;.	High;High;.;.	7.935155	0.97008	36	0.99457974443561847	0.65633	0.51683	0.28953	D	AEFDGBCIJ	0.106319	0.21216	N	0.326551813852914	0.57513	3.919098	0.0787077179066211	0.43481	2.648833	0.999998857124379	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.79	3.83	0.43287	2.431000	0.44433	3.828000	0.39982	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.007000	0.07825	0.0:0.0:0.6687:0.3313	11.294	0.48502	756	0.51065	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	532.98	24	chr1	24379817	.	G	A	532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.280;DP=646;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.74;ReadPosRankSum=-4.790e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/1:8,19:27:99:547,0,203	20	0	1	0
chr1	25618104	25618104	C	T	exonic	MAN1C1	.	nonsynonymous SNV	MAN1C1:NM_001289010:exon1:c.C307T:p.R103C	.	.	.	.	.	.	.	.	.	.	.	3277895	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.824	P	0.083	B	0.222	N	1.000	D	0.345	N	-1.75	D	-0.596	T	0.296	T	0.222	2.733	15.10	3.12	2.018	2.692	9.973	0.292	0.198435363842	.	0.000199681	0.0008	0	0	0	0	0	0	0.0014	6.47e-05	10	154602	rs564755166	3.232e-05	3.42e-05	1.886e-05	4.614e-05	0.0003	2.45e-05	2.182e-05	0.0002	0.0002	3.555e-05	0	0	0	0	0	1.307e-05	7.056e-05	0.0003	1.314e-05	1.312e-05	1.285e-05	1.344e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.023	0.48186	D	0.032	0.53426	D	0.824	0.45836	P	0.083	0.29179	B	0.221935	0.03460	N	1.661120	1	0.81001	D	1.245	0.31408	L	-1.75	0.83495	D	-1.54	0.37375	N	0.21	0.23380	-0.5956	0.64996	T	0.296	0.66764	T	10	0.061229587	0.07643	T	0.198435	0.86595	D	0.292	0.61157	0.427	0.47350	0.82404967353	0.82238	0.439938459450349	0.43910	1.04360297355	0.75885	0.81540286541	0.84322	D	0.023138	0.17715	T	-0.285082	0.10137	T	-0.271432	0.47674	T	0.295560598373413	0.24820	T	0.718628	0.33152	T	0.13678752	0.31696	0.15687253	0.36708	0.13678752	0.31696	0.15687253	0.36707	-8.59	0.65023	D	.	.	0.209	0.43599	B	.	.	3.819754	0.55149	23.6	0.99714743270109008	0.81633	0.40236	0.26392	N	AEFDBI	0.285451	0.39808	N	-0.394538499652317	0.25662	1.394761	-0.440944654090272	0.23807	1.300213	0.999999997215196	0.74766	0.455138	0.09556	0	0.491552	0.07993	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	3.12	3.12	0.34986	4.144000	0.57825	5.796000	0.49904	0.549000	0.26987	0.038000	0.20882	1.000000	0.68203	0.395000	0.26670	0.0:1.0:0.0:0.0	9.973	0.40934	612	0.66786	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	792.98	38	chr1	25618104	.	C	T	792.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=786;ExcessHet=0.0000;FS=5.208;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=0.372;SOR=0.777	GT:AD:DP:GQ:PL	0/1:29,30:59:99:807,0,677	20	0	1	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	33415.17	33	chr1	26282323	.	A	G,*	33415.17	.	AC=30,8;AF=0.714,0.190;AN=42;BaseQRankSum=0.532;DP=976;ExcessHet=0.6776;FS=0.923;InbreedingCoeff=-0.1053;MLEAC=30,8;MLEAF=0.714,0.190;MQ=60.00;MQRankSum=0.00;QD=31.59;ReadPosRankSum=-6.110e-01;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,33,7:40:99:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1806,284,173,1395,0,1362:26282320	0	9	4	0
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	9122.57	35	chr1	26282334	.	TGGGGCCG	*,T	9122.57	.	AC=3,13;AF=0.071,0.310;AN=42;BaseQRankSum=0.857;DP=1017;ExcessHet=1.5101;FS=6.482;InbreedingCoeff=-0.0096;MLEAC=3,13;MLEAF=0.071,0.310;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=-6.330e-01;SOR=1.134	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,7,35:42:99:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1852,1446,1446,284,0,167:26282320	8	0	0	0
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	9155.21	37	chr1	26282344	.	ACCGGGACCGGGACTGGG	*,A	9155.21	.	AC=3,13;AF=0.071,0.310;AN=42;BaseQRankSum=1.27;DP=1066;ExcessHet=1.5101;FS=6.447;InbreedingCoeff=-0.0096;MLEAC=3,13;MLEAF=0.071,0.310;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-2.630e-01;SOR=1.188	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,7,36:43:99:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1889,1484,1488,284,0,164:26282320	8	0	0	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	11163.93	50	chr1	26282357	.	CTGGGGCCGGG	C,*	11163.93	.	AC=10,16;AF=0.238,0.381;AN=42;BaseQRankSum=0.187;DP=1169;ExcessHet=10.5502;FS=6.433;InbreedingCoeff=-0.4135;MLEAC=10,16;MLEAF=0.238,0.381;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.857;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,36:43:99:1|1:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1725,1667,1672,120,120,0:26282320	1	0	7	0
chr1	26900049	26900049	T	C	exonic	GPATCH3	.	nonsynonymous SNV	GPATCH3:NM_022078:exon1:c.A394G:p.T132A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.005	B	0.003	B	0.001	D	0.678	D	1.355	L	1.61	T	-1.033	T	0.053	T	0.037	2.738	15.12	4.04	0.862	1.295	5.002	0.051	0.00432328760301	.	.	3.303e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs745345894	1.437e-05	1.436e-05	6.806e-06	2.2e-05	0.0002	9.23e-06	7.84e-06	0.0002	0.0001	0	0	0	0	0	0.0002	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.12305	T	0.783	0.04288	T	0.005	0.12996	B	0.003	0.08700	B	0.000510	0.43753	D	0.261130	0.677896	0.33205	D	2.175	0.60977	M	1.61	0.28391	T	-0.67	0.19297	N	0.163	0.17140	-1.0334	0.19363	T	0.053	0.22384	T	10	0.056217045	0.06267	T	0.004323	0.10498	T	0.051	0.14325	0.277	0.23004	0.0986583533028	0.09354	0.301583038249902	0.30071	0.143679958183	0.16225	0.484775841236	0.36715	T	0.019549	0.15555	T	-0.509387	0.00506	T	-0.669151	0.07662	T	0.0796410126864057	0.09940	T	0.556544	0.19325	T	0.046002608	0.07627	0.062024526	0.12069	0.046002608	0.07627	0.062024526	0.12068	-3.81	0.20954	T	.	.	0.071	0.03849	B	.	.	1.730718	0.22026	15.45	0.97817741421236104	0.36174	0.64981	0.32585	D	AEFDGBCIJ	0.130844	0.24955	N	-0.296081419406685	0.29300	1.623578	-0.148147105122859	0.33480	1.915543	0.999999994813457	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	5.23	4.04	0.46262	1.434000	0.34567	0.773000	0.21413	0.665000	0.62972	0.958000	0.33488	0.640000	0.25910	0.872000	0.41544	0.1983:0.0854:0.0:0.7163	5.002	0.13615	516	0.74704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2160.98	38	chr1	26900049	.	T	C	2160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.750e-01;DP=880;ExcessHet=0.0000;FS=0.535;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=1.18;SOR=0.656	GT:AD:DP:GQ:PL	0/1:95,93:188:99:2175,0,2273	20	0	1	0
chr1	28150041	28150041	T	G	exonic	PTAFR	.	nonsynonymous SNV	PTAFR:NM_000952:exon2:c.A981C:p.E327D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.001	B	0.003	B	0.059	N	0.998	N	0	N	-0.58	T	-1.058	T	0.089	T	0.033	0.802	8.218	-8.42	-1.474	-2.394	2.021	0.032	0.0280112493903	.	.	8.271e-06	0	0	0	0	0	0	6.165e-05	6.5e-06	1	154602	rs764390869	5.473e-06	5.472e-06	2.723e-06	8.251e-06	0.0002	2.35e-06	1.7e-06	3.766e-05	2.662e-05	0	0	0	0	0	0.0002	0	0	8.116e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.16144	T	0.142	0.33330	T	0.001	0.07471	B	0.003	0.08700	B	0.058664	0.22384	N	0.473261	0.998016	0.22395	N	0.895	0.22405	L	-0.58	0.71425	T	-0.39	0.13611	N	0.076	0.07125	-1.0583	0.12184	T	0.089	0.34408	T	10	0.055066317	0.05959	T	0.028011	0.50746	D	0.032	0.07718	0.326	0.30873	0.482137172311	0.47843	0.21375789414222332	0.21291	0.449725329957	0.44755	0.326200455427	0.14360	T	0.084784	0.37355	T	-0.424829	0.01594	T	-0.64536	0.09283	T	0.0700087964966315	0.08653	T	0.39556	0.09932	T	0.028292391	0.02144	0.026674286	0.00770	0.028292391	0.02144	0.026674286	0.00770	-4.322	0.28484	T	.	.	0.071	0.03925	B	.;.;.	.;.;.	-1.390185	0.00367	0.007	0.89060397964612936	0.18478	0.04479	0.10092	N	AEFBI	0.130936	0.24969	N	-1.80557319889345	0.00532	0.02288944	-1.86457406788037	0.00574	0.02546874	0.999949104174323	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.38	-8.42	0.00836	-2.543000	0.01010	-9.454000	0.00819	-0.980000	0.01901	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.372:0.3133:0.1888:0.126	2.021	0.03295	379	0.83778	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1787.98	34	chr1	28150041	.	T	G	1787.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.581;DP=881;ExcessHet=0.0000;FS=5.760;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=-2.700e-01;SOR=1.127	GT:AD:DP:GQ:PL	0/1:89,77:166:99:1802,0,2206	20	0	1	0
chr1	31692796	31692796	C	T	exonic	COL16A1	.	nonsynonymous SNV	COL16A1:NM_001856:exon14:c.G1084A:p.V362I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.539	P	0.281	B	0.016	N	0.970	N	0.46	N	-3.01	D	-0.271	T	0.570	D	0.142	2.243	13.46	2.52	1.017	0.554	7.588	0.085	0.132693862981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.21801	T	0.511	0.26306	T	0.036	0.37887	B	0.008	0.40336	B	0.015947	0.28108	N	0.343937	0.970284	0.25712	N	1.75	0.45442	L	-3.24	0.93474	D	-0.31	0.14390	N	0.145	0.14622	-0.2713	0.75776	T	0.570	0.84417	D	10	0.09925678	0.18000	T	0.132694	0.81503	D	0.085	0.24743	0.23	0.15705	0.671101576718	0.66832	0.05500039619266151	0.05441	0.126106355353	0.14212	0.372536182404	0.21194	T	0.009	0.11871	T	-0.0242466	0.48246	T	-0.272605	0.47556	T	0.304183334112167	0.25176	T	0.532847	0.22604	T	0.0390064	0.05304	0.04399158	0.05599	0.0390064	0.05304	0.04399158	0.05599	-4.021	0.24117	T	.	.	0.074	0.06433	B	.;.;.	.;.;.	1.683441	0.21456	15.21	0.98679341149501476	0.44596	0.40091	0.26359	N	AEFDBI	0.091959	0.18621	N	-0.41088087360822	0.25087	1.359257	-0.295816324184276	0.28236	1.572739	0.996832028980828	0.35047	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.43	2.52	0.29514	0.449000	0.21459	0.632000	0.20237	0.599000	0.40250	0.006000	0.17386	0.997000	0.33255	0.988000	0.63387	0.0:0.7957:0.0:0.2043	7.588	0.27171	718	0.55760	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1243.98	38	chr1	31692796	.	C	T	1243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.069e+00;DP=844;ExcessHet=0.0000;FS=1.907;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=-1.280e+00;SOR=0.441	GT:AD:DP:GQ:PL	0/1:35,49:84:99:1258,0,967	20	0	1	0
chr1	32204797	32204797	A	G	exonic	CCDC28B	.	stoploss	CCDC28B:NM_001301011:exon5:c.A725G:p.X242W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	0.630	7.387	2.19	0.629	0.559	5.752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.461e-06	3.42e-06	1.375e-06	5.575e-06	5.88e-05	1.01e-06	7.4e-07	2.218e-05	1.447e-05	0	0	0	0	0	0	0	0	5.88e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.009	0.00081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.403473	0.02197	T	-0.817338	0.01507	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.565399	0.09340	6.120	0.7386189149156811	0.10482	0.09191	0.14996	N	AEFBCI	.	.	.	-0.535848858431295	0.20929	1.107001	-0.699716685968792	0.16967	0.9000775	0.999818187758987	0.43459	0.106106	0.02776	0	0.077846	0.01938	0	0.068591	0.01938	0	0.109871	0.03346	0	0.0679981	0.16100	3.37	2.19	0.26890	1.094000	0.30563	0.559000	0.19493	0.756000	0.94297	0.005000	0.17040	0.001000	0.17328	0.002000	0.04165	0.7618:0.0:0.0:0.2382	5.752	0.17420	440	0.80101	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	561.98	22	chr1	32204797	.	A	G	561.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.458e+00;DP=692;ExcessHet=0.0000;FS=2.846;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=0.00;SOR=0.330	GT:AD:DP:GQ:PL	0/1:16,25:41:99:576,0,375	20	0	1	0
chr1	34868752	34868752	G	A	exonic	DLGAP3	.	nonsynonymous SNV	DLGAP3:NM_001080418:exon9:c.C2338T:p.R780C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.959	D	0.000	D	1.000	D	1.04	L	1.68	T	-1.009	T	0.116	T	0.62	4.325	22.7	5.09	2.633	7.583	18.696	0.257	0.0138048100854	.	.	8.925e-06	0	0	0	0	1.623e-05	0	0	1.29e-05	2	154602	rs771794556	8.936e-06	1.231e-05	9.58e-06	8.287e-06	1.169e-05	4.99e-06	3.84e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	0	0	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.022	0.48642	D	0.059	0.45961	T	1.0	0.90584	D	0.959	0.70163	D	0.000110	0.50451	D	0.177929	1	0.81001	D	0.315	0.10303	N	1.68	0.27184	T	-2.98	0.62008	D	0.713	0.71587	-1.0093	0.27136	T	0.116	0.41075	T	10	0.5606619	0.64769	D	0.013805	0.33474	T	0.257	0.56827	0.436	0.48828	0.216943180021	0.21308	0.6757899540468842	0.67516	1.83058605032	0.92042	0.79072791338	0.80554	T	0.216	0.57842	T	-0.0270668	0.47842	T	-0.26117	0.48707	T	0.686613607220284	0.40091	D	0.935106	0.75644	D	0.18476574	0.39807	0.12597477	0.30345	0.18476574	0.39807	0.12597477	0.30344	-8.884	0.66946	D	.	.	0.233	0.49216	B	.;.	.;.	5.650607	0.92806	33	0.99920831399151633	0.98721	0.98850	0.87681	D	AEFDBI	0.956231	0.97462	D	0.674270305457179	0.77946	6.773831	0.684539695072562	0.81203	7.472527	0.999999994102083	0.74766	0.718356	0.82227	0	0.610034	0.51514	0	0.570548	0.19454	0	0.542086	0.14980	0	.	.	5.09	5.09	0.68647	7.695000	0.83490	9.801000	0.81695	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	18.696	0.91562	902	0.24074	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1274.98	35	chr1	34868752	.	G	A	1274.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=778;ExcessHet=0.0000;FS=0.852;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.74;ReadPosRankSum=-9.600e-02;SOR=0.527	GT:AD:DP:GQ:PL	0/1:34,47:81:99:1289,0,838	20	0	1	0
chr1	36171270	36171270	T	A	exonic	MAP7D1	.	nonsynonymous SNV	MAP7D1:NM_001286365:exon2:c.T346A:p.S116T	.	.	435	1086	0	1	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.9	P	0.366	B	0.019	N	1.000	D	1.15	L	3.47	T	-0.927	T	0.015	T	0.242	3.593	18.30	4.03	0.975	0.162	5.309	0.042	0.00991749520474	.	.	7.152e-05	0	0	0	0	1.585e-05	0	0.0006	5.17e-05	8	154602	rs752170476	5.217e-05	5.267e-05	3.315e-05	7.146e-05	0.0011	4.262e-05	3.888e-05	0.0005	0.0004	0	0	0	0	0	0.0011	1.181e-05	6.756e-05	0.0006	3.285e-05	3.281e-05	2.572e-05	4.031e-05	0.0006	1.261e-05	7.98e-06	0.0002	8.996e-05	0	0	0	0	0	0	0.0034	1.471e-05	0	0.0006	0.005	0.63226	D	0.193	0.54934	T	0.275	0.49598	B	0.037	0.43381	B	0.019230	0.27304	N	0.179595	0.979245	0.25195	N	1.995	0.54099	M	3.42	0.05507	T	-1.47	0.35991	N	0.272	0.30800	-0.9275	0.44502	T	0.015	0.05849	T	10	0.047278255	0.04026	T	0.009917	0.25833	T	0.042	0.11227	0.241	0.17371	0.082315109003	0.07666	0.27148604307034246	0.27061	0.374654094666	0.38927	0.505684018135	0.39620	T	0.013828	0.11884	T	-0.431899	0.01444	T	-0.543912	0.17914	T	0.108115449307731	0.13227	T	0.748625	0.50261	T	0.09514694	0.22385	0.08148963	0.18524	0.09514694	0.22385	0.08148963	0.18524	-4.105	0.26679	T	.	.	0.074	0.11076	B	.;.;.;.;.	.;.;.;.;.	1.862946	0.23667	16.10	0.99374258927740555	0.61585	0.28851	0.23665	N	AEFDGBI	0.149614	0.27373	N	-0.291989923545535	0.29455	1.633667	-0.234444869251623	0.30310	1.705539	0.999987466785034	0.51787	0.722319	0.85440	0	0.702456	0.74545	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.17	4.03	0.46115	0.408000	0.20787	1.989000	0.30069	0.651000	0.53179	0.815000	0.29920	0.995000	0.32472	0.984000	0.60418	0.0:0.0888:0.1805:0.7306	5.309	0.15126	191	0.92559	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	451.98	29	chr1	36171270	.	T	A	451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.975;DP=679;ExcessHet=0.0000;FS=2.700;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=0.949;SOR=0.518	GT:AD:DP:GQ:PL	0/1:28,17:45:99:466,0,792	20	0	1	0
chr1	39511904	39511905	GG	-	exonic;splicing	BMP8A;BMP8A	.	frameshift deletion	BMP8A:NM_181809:exon3:c.673delG:p.H226Tfs*40,	.	.	546	26	383	566	1	1516	0.966816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1284964917	3.274e-06	4.184e-06	2.207e-06	4.319e-06	3.209e-05	8.7e-07	2.4e-07	5.1e-07	1.9e-07	0	3.209e-05	0	0	0	0	3.046e-06	0	0	9.616e-06	1.344e-05	0	2.033e-05	0.0001	0	0	.	.	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	7775.32	8	chr1	39511903	.	CGG	TGG,C	7775.32	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=2.52;DP=302;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2724;MLEAC=32,1;MLEAF=0.762,0.024;MQ=26.98;MQRankSum=0.00;QD=26.63;ReadPosRankSum=0.072;SOR=3.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:3,12,0:15:50:.:.:334,0,50,343,86,429	0	12	8	0
chr1	43172316	43172316	C	T	exonic	EBNA1BP2	.	nonsynonymous SNV	EBNA1BP2:NM_001159936:exon1:c.G106A:p.G36R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	D	0	N	0.65	T	-0.924	T	0.102	T	0.28	2.822	15.40	4.84	2.521	2.163	13.308	0.071	0.0514270359175	.	.	0.0005	0	0	0	0	0	0	0.0011	7.12e-05	11	154602	rs774160507	8.146e-05	8.277e-05	4.653e-05	0.0001	0.0014	6.894e-05	6.415e-05	0.0012	0.0011	0	0	0	0	0	0	0	1.724e-05	0.0014	1.314e-05	1.313e-05	0	2.691e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.977998	0.81001	N	.	.	.	0.65	0.52642	T	-0.55	0.16799	N	0.346	0.38746	-0.9240	0.44999	T	0.102	0.37568	T	7	0.050123423	0.04699	T	0.051427	0.64655	D	0.071	0.20720	0.212	0.13066	0.479818277033	0.47611	0.022877723156652704	0.02239	0.857533634355	0.68814	0.475037336349	0.35374	T	0.005004	0.04428	T	-0.275063	0.11199	T	-0.213437	0.53366	T	0.597415566444397	0.36298	D	0.512749	0.16428	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.33755	B	.	.	3.395933	0.47037	22.4	0.99485399441032596	0.67124	0.91687	0.54051	D	ALL	0.490789	0.52812	N	0.0484777847887462	0.44072	2.688029	0.126571559258989	0.45912	2.846138	1.0	0.98316	0.006267	0.00052	3	0.374146	0.05931	1	0.47417	0.07244	0	0.241949	0.04745	2	.	.	4.84	4.84	0.62125	2.247000	0.42803	7.266000	0.57975	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.691000	0.33868	0.0:1.0:0.0:0.0	13.308	0.59800	444	0.79803	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2375.98	38	chr1	43172316	.	C	T	2375.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.85;DP=925;ExcessHet=0.0000;FS=1.237;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=0.143;SOR=0.580	GT:AD:DP:GQ:PL	0/1:77,91:168:99:2390,0,1656	20	0	1	0
chr1	43226992	43226992	A	G	exonic	CFAP57	.	nonsynonymous SNV	CFAP57:NM_001195831:exon18:c.A2875G:p.I959V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	.	.	.	.	.	.	1.000	D	.	.	3.71	T	-1.056	T	0.025	T	0.19	2.505	14.34	5.41	2.052	5.125	11.386	0.066	0.00671770417273	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1363162407	1.026e-05	9.577e-06	7.215e-06	1.341e-05	0.0002	5.95e-06	4.66e-06	5.54e-06	4.05e-06	0	0	0	0	0	0.0002	1.033e-05	0	2.762e-05	6.569e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.028	0.46129	D	0.101	0.38596	T	.	.	.	.	.	.	.	.	.	.	0.689929	0.33316	D	.	.	.	3.71	0.04046	T	-0.82	0.22508	N	0.124	0.16308	-1.0562	0.12724	T	0.025	0.10821	T	6	0.152028	0.28724	T	0.006718	0.17756	T	0.066	0.19193	0.392	0.41606	0.134241683229	0.13084	0.10957760849626556	0.10886	.	.	0.616982936859	0.55302	T	0.06198	0.35287	T	-0.234449	0.16064	T	-0.533826	0.18906	T	0.504824221134186	0.32806	D	0.80372	0.45098	T	0.13327476	0.31005	0.13503626	0.32343	0.13327476	0.31005	0.13503626	0.32342	-10.491	0.76796	D	.	.	0.359	0.57180	A	.;.	.;.	4.435679	0.68827	25.3	0.99703769775017481	0.80798	0.92450	0.55740	D	AEFGBCI	0.386904	0.46709	N	0.321123376008462	0.57233	3.889993	0.402599798097843	0.61726	4.37692	0.999991114397498	0.74766	0.656854	0.48797	0	0.69481	0.67340	0	0.491513	0.07944	0	0.638833	0.57524	0	.	.	5.41	5.41	0.78313	5.202000	0.65004	11.263000	0.91145	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.9272:0.0:0.0728:0.0	11.386	0.49026	453	0.79178	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	629.98	33	chr1	43226992	.	A	G	629.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.298e+00;DP=726;ExcessHet=0.0000;FS=1.242;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=0.054;SOR=0.487	GT:AD:DP:GQ:PL	0/1:29,24:53:99:644,0,922	20	0	1	0
chr1	45566635	45566635	G	A	exonic	AKR1A1	.	nonsynonymous SNV	AKR1A1:NM_153326:exon3:c.G151A:p.G51S	.	.	415	1099	8	0	0	8	0.00362647	.	.	696777	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.19	T	0.075	B	0.097	B	0.000	N	1.000	D	2.5	M	0.81	T	-0.914	T	0.118	T	0.34	2.723	15.07	5.21	1.607	5.401	8.333	0.160	.	0.0068	0.00399361	0.0071	0.0015	0.0037	0	0.0095	0.0100	0.0033	0.0041	0.0071539	1106	154602	rs61751012	0.0090	0.0090	0.0092	0.0089	0.0104	0.0089	0.0089	0.0103	0.0102	0.0014	0.0055	0.0034	5.038e-05	0.0078	0.0031	0.0104	0.0073	0.0043	0.0068	0.0068	0.0073	0.0063	0.0100	0.0065	0.0063	0.0094	0.0092	0.0018	0.0011	0.0095	0.0037	0	0.0081	0	0.0100	0.0085	0.0041	0.223	0.18757	T	0.354	0.42086	T	0.075	0.24198	B	0.097	0.30390	B	0.000233	0.47286	N	0.244901	0.99977	0.48980	D	2.66	0.77858	M	0.81	0.48460	T	-2.91	0.69835	D	0.137	0.14054	-0.9138	0.46377	T	0.118	0.41495	T	10	0.010595292	0.00235	T	.	.	.	0.160	0.41473	.	.	0.560605342602	0.55722	0.7305347047557689	0.72998	0.0670236021482	0.07481	0.408516973257	0.26252	T	0.231725	0.59811	T	-0.409309	0.02009	T	-0.350333	0.39167	T	0.033654112619179	0.02580	T	0.868713	0.58433	D	0.31890693	0.54548	0.2083932	0.45140	0.31890693	0.54548	0.2083932	0.45139	-7.085	0.54652	T	.	.	0.163	0.37969	B	.;.;.;.;.;.	.;.;.;.;.;.	3.467385	0.48358	22.6	0.98781711872794942	0.46143	0.96111	0.67583	D	AEFBI	0.852859	0.76978	D	0.170234547691658	0.49772	3.174034	0.299125608907104	0.55488	3.711858	0.997420749452303	0.35604	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.13	5.21	0.72005	5.555000	0.67005	5.881000	0.50644	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0966:0.0:0.75:0.1534	8.333	0.31361	201	0.92177	NADP-dependent oxidoreductase domain|Aldo/keto reductase, conserved site|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|Aldo/keto reductase, conserved site|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|Aldo/keto reductase, conserved site|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|Aldo/keto reductase, conserved site|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|Aldo/keto reductase, conserved site|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|Aldo/keto reductase, conserved site|NADP-dependent oxidoreductase domain	.	.	.	.	rs61751012	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1771.98	34	chr1	45566635	.	G	A	1771.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.871;DP=833;ExcessHet=0.0000;FS=1.438;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=1.20;SOR=0.896	GT:AD:DP:GQ:PL	0/1:57,68:125:99:1786,0,1389	20	0	1	0
chr1	46613215	46613215	G	C	exonic	MOB3C	.	nonsynonymous SNV	MOB3C:NM_145279:exon2:c.C107G:p.A36G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	3.025	M	.	.	0.264	D	0.557	D	0.741	5.819	36	5.31	2.490	9.817	17.964	0.582	0.0139583808919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.01	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	.	.	.	-3.89	0.72820	D	0.774	0.77132	0.264	0.86973	D	0.557	0.83845	D	9	0.6686675	0.70580	D	0.013958	0.33748	T	0.582	0.83193	0.642	0.77903	0.707347941332	0.70479	0.38905998175117595	0.38820	0.572858510513	0.53358	0.764638364315	0.76621	T	0.131582	0.46340	T	0.285581	0.81788	D	0.172441	0.81555	D	0.994002064544445	0.85055	D	0.990601	0.97065	D	0.75960207	0.81429	0.73670983	0.84438	0.75960207	0.81431	0.73670983	0.84440	-7.806	0.59740	D	.	.	0.649	0.77163	P	.;.;.	.;.;.	4.951349	0.81797	27.6	0.99793096647677015	0.87839	0.96467	0.69283	D	AEFDBHCI	0.898988	0.84287	D	0.950088505148483	0.93988	12.421	0.892121511922027	0.95220	13.41926	1.0	0.98316	0.660085	0.49399	0	0.662677	0.63036	0	0.735289	0.94003	0	0.683762	0.67416	0	.	.	5.31	5.31	0.75063	9.951000	0.98966	11.917000	0.99728	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.964	0.89013	173	0.93306	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	650.19	81	chr1	46613215	.	G	C	650.19	.	AC=3;AF=0.100;AN=30;BaseQRankSum=-2.295e+00;DP=2536;ExcessHet=0.3300;FS=133.457;InbreedingCoeff=-0.1712;MLEAC=4;MLEAF=0.133;MQ=60.00;MQRankSum=0.00;QD=1.27;ReadPosRankSum=1.21;SOR=10.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,38:165:99:0|1:46613214_G_C:123,0,3175:46613214	12	0	3	6
chr1	47439172	47439172	G	C	exonic	FOXD2	.	nonsynonymous SNV	FOXD2:NM_004474:exon1:c.G1037C:p.G346A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.001	B	0.001	B	0.206	N	1.000	N	0.205	N	-3.0	D	-0.445	T	0.515	D	0.138	0.116	4.625	1.73	1.902	0.411	6.518	0.256	0.976262266371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.14064	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.205977	0.03353	N	1.661150	1	0.08975	N	0.805	0.20218	L	-3.0	0.92158	D	0.06	0.06253	N	0.131	0.12627	-0.4446	0.70578	T	0.515	0.81830	D	10	0.25144333	0.42484	T	0.976262	0.99866	D	0.256	0.56694	0.306	0.27646	0.971106889586	0.97080	0.33045116139809383	0.32958	.	.	0.868490815163	0.92352	D	0.025614	0.19119	T	-0.0829024	0.39242	T	-0.35686	0.38415	T	0.0892492979764938	0.11128	T	0.492651	0.15191	T	0.08762064	0.20410	0.083875395	0.19254	0.08762064	0.20409	0.083875395	0.19254	-5.282	0.39764	T	.	.	0.085	0.10159	B	.	.	2.053571	0.26105	17.00	0.83724423146799842	0.14884	0.18505	0.20288	N	AEFDBCI	0.083780	0.16974	N	-0.688216476091839	0.16356	0.8325986	-0.57859329176684	0.20052	1.078604	0.999959230800535	0.48110	0.59774	0.34471	0	0.627178	0.54094	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.76	1.73	0.23565	0.285000	0.18642	6.061000	0.53172	0.566000	0.28629	0.007000	0.17678	1.000000	0.68203	0.678000	0.33484	0.1132:0.1895:0.6973:0.0	6.518	0.21453	707	0.57054	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05556	56.66	22	chr1	47439172	.	G	C	56.66	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-5.890e-01;DP=418;ExcessHet=0.0000;FS=25.206;InbreedingCoeff=-0.2074;MLEAC=2;MLEAF=0.111;MQ=60.00;MQRankSum=0.00;QD=3.15;ReadPosRankSum=1.29;SOR=4.974	GT:AD:DP:GQ:PL	0/1:8,10:18:64:64,0,125	8	0	1	12
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	13423.2	21	chr1	50419106	.	G	*,A	13423.2	.	AC=12,30;AF=0.286,0.714;AN=42;BaseQRankSum=-4.990e-01;DP=670;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=12,30;MLEAF=0.286,0.714;MQ=59.92;MQRankSum=0.00;QD=23.55;ReadPosRankSum=-7.700e-01;SOR=0.979	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,26:26:77:.:.:836,837,838,77,78,0	0	2	0	0
chr1	52357050	52357050	G	A	exonic	CC2D1B	.	nonsynonymous SNV	CC2D1B:NM_001330585:exon16:c.C1829T:p.A610V	.	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.059	B	0.016	B	0.000	N	1.000	D	1.905	M	1.59	T	-0.508	T	0.337	T	0.29	1.858	12.17	4.73	0.953	5.830	16.767	0.148	0.00965240391395	.	0.000199681	0.0013	0.0002	0.0011	0	0.0069	0.0008	0.0063	0.0023	0.0004981	77	154602	rs201266966	0.0004	0.0004	0.0004	0.0004	0.0026	0.0004	0.0004	0.0016	0.0013	6.012e-05	0.0006	3.886e-05	2.55e-05	0.0022	0.0026	0.0003	0.0004	0.0011	0.0004	0.0004	0.0002	0.0006	0.0004	0.0003	0.0003	0.0002	0.0002	4.817e-05	0	0.0002	0	0	0.0030	0.0034	0.0003	0.0005	0.0004	0.078	0.33923	T	0.112	0.37173	T	0.024	0.21357	B	0.008	0.17743	B	0.000082	0.51296	N	0.170245	0.981815	0.81001	D	2.11	0.58565	M	1.59	0.28836	T	-2.23	0.51646	N	0.322	0.36254	-0.5078	0.68367	T	0.337	0.70354	T	10	0.0074935555	0.00170	T	0.009652	0.25222	T	0.148	0.39182	.	.	0.420199648628	0.41636	0.389538318633259	0.38868	0.0301158641719	0.03106	0.444210350513	0.31153	T	0.007018	0.06441	T	-0.434223	0.01399	T	-0.442059	0.28579	T	0.0406082166850478	0.03802	T	0.742826	0.36203	T	0.09857615	0.23254	0.12281261	0.29620	0.09857615	0.23253	0.12281261	0.29619	-9.57	0.71294	D	.	.	0.136	0.29477	B	.;.	.;.	3.506498	0.49089	22.7	0.98450645900385969	0.41620	0.94527	0.61454	D	AEFDBCI	0.689668	0.65026	D	-0.120600201048397	0.36496	2.110374	-0.101077152105388	0.35348	2.043919	0.999613328366353	0.40981	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.65	4.73	0.59485	6.113000	0.71239	8.596000	0.77707	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.286000	0.24163	0.0692:0.0:0.9308:0.0	16.767	0.85387	355	0.85216	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	828.98	34	chr1	52357050	.	G	A	828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-8.530e-01;SOR=0.670	GT:AD:DP:GQ:PL	0/1:41,31:72:99:843,0,998	20	0	1	0
chr1	53514694	53514694	G	A	exonic	GLIS1	.	nonsynonymous SNV	GLIS1:NM_147193:exon7:c.C1289T:p.P430L	.	.	424	1092	5	1	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.384	B	0.078	B	0.056	N	0.991	D	0.975	L	2.76	T	-0.977	T	0.013	T	0.184	1.914	12.36	3.9	1.155	1.455	8.079	0.015	0.00989298788821	0.0045	0.000798722	0.0036	0.0016	0.0023	0	0.0043	0.0051	0.0045	0.0016	0.003771	583	154602	rs142735388	0.0056	0.0056	0.0056	0.0056	0.0066	0.0055	0.0054	0.0065	0.0064	0.0011	0.0023	7.657e-05	5.038e-05	0.0028	0.0050	0.0066	0.0050	0.0018	0.0034	0.0034	0.0035	0.0034	0.0060	0.0032	0.0031	0.0055	0.0053	0.0012	0	0.0006	0	0	0.0045	0.0034	0.0060	0.0014	0.0010	0.017	0.51248	D	0.41	0.17750	T	0.384	0.34453	B	0.078	0.28627	B	0.055930	0.22601	N	0.371944	0.990685	0.41213	D	2.35	0.67516	M	2.76	0.11515	T	-1.03	0.27052	N	0.388	0.42931	-0.9774	0.35593	T	0.013	0.05321	T	10	0.011166304	0.00245	T	0.009893	0.25766	T	0.015	0.02232	.	.	0.544303689236	0.54083	0.28315753184834025	0.28228	0.0651516796996	0.07277	0.3909920156	0.23809	T	0.162119	0.50665	T	-0.566044	0.00234	T	-0.57932	0.14605	T	0.0142208380277264	0.00281	T	0.763624	0.39028	T	0.046672173	0.07851	0.050360087	0.07889	0.046672173	0.07850	0.050360087	0.07889	-2.908	0.09223	T	.	.	0.096	0.23640	B	.;.	.;.	2.204857	0.28123	17.69	0.99580483660092889	0.72980	0.63360	0.32065	D	AEFBI	0.073231	0.14641	N	-0.252525661057595	0.31003	1.734149	-0.165473704700105	0.32816	1.870839	0.0013396931270503	0.08454	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.97	3.9	0.44240	1.863000	0.39097	4.254000	0.42773	-0.123000	0.13640	0.980000	0.35271	1.000000	0.68203	0.554000	0.30269	0.2267:0.0:0.7733:0.0	8.079	0.29895	471	0.78036	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1626.98	41	chr1	53514694	.	G	A	1626.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=916;ExcessHet=0.0000;FS=2.184;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=0.822;SOR=0.901	GT:AD:DP:GQ:PL	0/1:69,65:134:99:1641,0,1561	20	0	1	0
chr1	65630220	65630220	T	C	exonic	LEPR	.	nonsynonymous SNV	LEPR:NM_001198687:exon19:c.T2692C:p.F898L	Obesity, morbid, due to leptin receptor deficiency	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	.	.	0.46	T	-0.957	T	0.018	T	0.037	-0.565	1.449	.	0.000	0.364	.	0.032	0.00528436233475	.	.	.	.	.	.	.	.	.	.	.	.	.	rs896541635	1.073e-05	8.747e-05	1.343e-05	8.932e-06	2.645e-05	1.78e-06	6.7e-07	.	.	0	0	0	0	0	0	9.447e-06	0	2.645e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622	0.05278	T	0.606	0.07791	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.46	0.56281	T	0.52	0.02853	N	0.081	0.05670	-0.9568	0.39771	T	0.018	0.07282	T	6	0.06357351	0.08301	T	0.005284	0.13494	T	0.032	0.07718	0.301	0.26843	0.447219684837	0.44343	.	.	.	.	.	.	.	.	.	.	-0.315374	0.07283	T	-0.690789	0.06344	T	0.0257412766863031	0.01371	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-3.006	0.10245	T	.	.	0.384	0.58668	A	.	.	0.347376	0.07205	3.799	0.51466490877915394	0.04568	0.00327	0.01711	N	AEFDBI	0.129930	0.24829	N	-1.28480875884112	0.03858	0.1730912	-1.40131550784436	0.03239	0.1506921	0.120706388880266	0.16875	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.52698	0.09003	0	.	.	.	.	.	0.362000	0.20020	-0.663000	0.07971	.	.	0.206000	0.24378	0.033000	0.21346	.	.	.	.	.	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	61.47	19	chr1	65630220	.	T	C	61.47	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.842;DP=219;ExcessHet=0.0000;FS=3.979;InbreedingCoeff=-0.0330;MLEAC=1;MLEAF=0.025;MQ=52.92;MQRankSum=-1.645e+00;QD=12.29;ReadPosRankSum=-1.645e+00;SOR=2.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:65630220_T_C:75,0,120:65630220	19	0	1	1
chr1	65630223	65630223	G	A	exonic	LEPR	.	nonsynonymous SNV	LEPR:NM_001198687:exon19:c.G2695A:p.V899I	Obesity, morbid, due to leptin receptor deficiency	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.005	B	0.0	B	.	.	1.000	N	.	.	0.56	T	-1.013	T	0.039	T	0.051	-0.755	0.803	.	0.000	0.000	.	0.037	0.00663077938597	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1452549859	6.929e-05	8.747e-05	3.975e-05	8.917e-05	0.0003	4.06e-05	3.172e-05	3.561e-05	2.157e-05	0	7.366e-05	0.0001	0.0003	0	0	4.706e-05	0.0001	0.0001	1.977e-05	1.971e-05	3.864e-05	0	0.0001	5.26e-06	2.46e-06	2.268e-05	9.1e-06	2.422e-05	0	0.0001	0	0	0	0	0	0	0	0.492	0.07944	T	1.0	0.01155	T	0.005	0.12996	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.56	0.54540	T	0.09	0.05917	N	0.071	0.04426	-1.0127	0.26070	T	0.039	0.16935	T	6	0.06697029	0.09263	T	0.006631	0.17501	T	0.037	0.09474	0.549	0.66436	0.248133497653	0.24425	.	.	.	.	.	.	.	.	.	.	-0.321679	0.06761	T	-0.699846	0.05834	T	0.00863702805778517	0.00106	T	0.205379	0.02414	T	.	.	.	.	.	.	.	.	-2.705	0.07346	T	.	.	0.091	0.13221	B	.	.	0.480490	0.08498	5.261	0.6170055986567583	0.06775	0.00364	0.01860	N	AEFDBI	0.122044	0.23700	N	-1.10306947121235	0.06588	0.3037116	-1.25057888725197	0.05123	0.2433343	0.120706388880266	0.16875	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.52698	0.09003	0	.	.	.	.	.	0.000000	0.12910	-0.628000	0.08139	.	.	0.189000	0.24175	0.001000	0.17328	.	.	.	.	.	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	61.82	19	chr1	65630223	.	G	A	61.82	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=220;ExcessHet=0.0000;FS=3.979;InbreedingCoeff=-0.0459;MLEAC=1;MLEAF=0.026;MQ=52.92;MQRankSum=-1.645e+00;QD=12.36;ReadPosRankSum=-1.645e+00;SOR=2.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:65630220_T_C:75,0,120:65630220	18	0	1	2
chr1	74636325	74636325	T	A	exonic	ERICH3	.	nonsynonymous SNV	ERICH3:NM_001002912:exon6:c.A558T:p.R186S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.999	D	0.964	D	.	.	1.000	D	1.5	L	1.99	T	-1.137	T	0.055	T	0.346	2.125	13.06	3.02	0.979	2.870	10.020	0.145	0.0119124099734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.851e-07	6.84e-07	1.363e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.005	0.72224	D	0.999	0.77913	D	0.964	0.71005	D	.	.	.	.	0.906815	0.27590	N	2.52	0.73523	M	1.99	0.21666	T	-3.12	0.63782	D	0.31	0.34981	-1.1375	0.01454	T	0.055	0.23072	T	9	0.28409272	0.45991	T	0.011912	0.29998	T	0.145	0.38592	0.316	0.29258	0.202949470691	0.19918	0.3983524692414994	0.39750	0.143993551915	0.16260	.	.	.	0.156655	0.49893	T	-0.146028	0.28937	T	-0.447535	0.27969	T	0.969221234321594	0.68515	D	0.731927	0.34732	T	0.15137964	0.34416	0.21183683	0.45628	0.15137964	0.34416	0.21183683	0.45627	-3.714	0.19525	T	.	.	0.442	0.61816	A	.	.	3.367165	0.46514	22.3	0.99285562451083142	0.58078	0.89155	0.49451	D	AEFGI	0.355131	0.44697	N	0.0563613137277739	0.44436	2.71767	-0.0172800411652686	0.38934	2.301046	0.203273157130982	0.18150	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.65	3.02	0.33970	2.279000	0.43094	1.193000	0.24780	-0.120000	0.14102	0.999000	0.42656	1.000000	0.68203	0.308000	0.24690	0.0:0.1654:0.0:0.8346	10.020	0.41207	705	0.57330	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1328.98	35	chr1	74636325	.	T	A	1328.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.809;DP=800;ExcessHet=0.0000;FS=0.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=-1.216e+00;SOR=0.562	GT:AD:DP:GQ:PL	0/1:57,57:114:99:1343,0,1299	20	0	1	0
chr1	78659463	78659463	G	A	exonic	IFI44	.	nonsynonymous SNV	IFI44:NM_006417:exon6:c.G992A:p.R331Q,	.	.	428	1079	13	2	0	17	0.00781609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.962	D	0.421	B	0.001	N	1.000	N	2.025	M	1.38	T	-1.036	T	0.040	T	0.156	1.107	9.517	-0.37	-0.058	0.042	7.418	0.087	.	0.0057	0.00559105	0.0052	0.0097	0.0031	0.0004	0.0008	0.0039	0.0035	0.0135	0.0049611	767	154602	rs115887090	0.0055	0.0055	0.0052	0.0057	0.0140	0.0054	0.0053	0.0134	0.0131	0.0102	0.0032	0.0006	0	0.0009	0.0134	0.0053	0.0051	0.0140	0.0060	0.0060	0.0065	0.0056	0.0104	0.0057	0.0056	0.0092	0.0089	0.0100	0	0.0061	0.0006	0	0.0006	0.0102	0.0050	0.0043	0.0104	0.338	0.12796	T	0.249	0.23776	T	0.8	0.44988	P	0.068	0.27651	B	0.000573	0.43250	N	0.154695	0.999964	0.18878	N	2.225	0.63025	M	1.38	0.34050	T	-1.44	0.35399	N	0.263	0.29774	-1.0365	0.18388	T	0.040	0.17149	T	10	0.007916838	0.00180	T	.	.	.	0.087	0.25287	.	.	0.371157983038	0.36729	0.6071427518928081	0.60646	0.0386921261483	0.04117	0.307418256998	0.11517	T	0.134354	0.46556	T	-0.547272	0.00303	T	-0.547219	0.17593	T	0.0271038299505792	0.01559	T	0.730727	0.34650	T	0.07218077	0.16038	0.04563375	0.06183	0.07218077	0.16038	0.04563375	0.06182	-5.745	0.44092	T	.	.	0.110	0.21125	B	.	.	0.988490	0.13663	10.20	0.99522333036057031	0.69346	0.05488	0.11373	N	AEFGBI	0.041429	0.06297	N	-0.599083455652914	0.18972	0.9893579	-0.787204677070631	0.14809	0.7757163	0.999903051043015	0.45458	0.722319	0.85440	0	0.698795	0.70079	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.66	-0.37	0.11906	0.036000	0.13706	-0.184000	0.11104	-0.289000	0.06313	0.165000	0.23867	0.000000	0.08366	0.001000	0.02609	0.4021:0.0:0.5979:0.0	7.418	0.26229	594	0.68584	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	639.98	33	chr1	78659463	.	G	A	639.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.810e-01;DP=746;ExcessHet=0.0000;FS=2.226;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=1.85;SOR=0.951	GT:AD:DP:GQ:PL	0/1:29,28:57:99:654,0,681	20	0	1	0
chr1	86580219	86580225	ACCTACT	0	exonic	CLCA4	.	.	.	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:146,0,168,0:314:99:.:.:6561,7005,13087,0,6082,5576,7005,13087,6082,13087	0	12	6	0
chr1	86580225	86580225	-	CCTACT	exonic	CLCA4	.	nonframeshift insertion	CLCA4:NM_012128:exon14:c.2640_2641insCCTACT:p.P887_D888insTP,	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:146,0,168,0:314:99:.:.:6561,7005,13087,0,6082,5576,7005,13087,6082,13087	0	12	6	0
chr1	91976319	91976319	G	A	exonic	BRDT	.	nonsynonymous SNV	BRDT:NM_001242807:exon4:c.G361A:p.A121T	.	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.017	B	0.005	B	0.592	N	1.000	N	1.78	L	3.3	T	-0.965	T	0.016	T	0.115	1.256	10.09	2.01	0.598	0.400	4.195	0.024	0.00315846437966	0.0022	0.00299521	0.0024	0.0004	0.0003	0	0.0005	0.0028	0	0.0060	0.0024515	379	154602	rs112246679	0.0032	0.0032	0.0030	0.0034	0.0080	0.0031	0.0031	0.0062	0.0055	0.0009	0.0014	0.0012	5.057e-05	0.0002	0.0080	0.0033	0.0035	0.0061	0.0022	0.0022	0.0022	0.0022	0.0048	0.0020	0.0019	0.0035	0.0032	0.0005	0	0.0044	0.0009	0	9.445e-05	0.0102	0.0031	0.0024	0.0048	0.375	0.18308	T	0.581	0.10465	T	0.002	0.09854	B	0.002	0.06944	B	0.592195	0.05598	N	1.208290	1	0.08975	N	1.855	0.49169	L	3.22	0.19990	T	-0.59	0.18042	N	0.053	0.15187	-0.9652	0.38171	T	0.016	0.06569	T	10	0.0050364137	0.00108	T	0.003158	0.06906	T	0.024	0.04979	.	.	0.370789594751	0.36692	0.19710477496022719	0.19627	0.077418992824	0.08706	0.318214178085	0.13150	T	0.045437	0.27124	T	-0.642003	0.00081	T	-0.692079	0.06270	T	0.00285348042457545	0.00030	T	0.425557	0.18512	T	0.025702259	0.01537	0.038341336	0.03681	0.022582712	0.00931	0.04595521	0.06299	-3.169	0.12763	T	.	.	0.066	0.02548	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.479872	0.08493	5.254	0.79256083948807377	0.12660	0.03724	0.09016	N	AEFBI	0.067427	0.13255	N	-0.895336650903614	0.10953	0.5260278	-0.928036661307353	0.11433	0.5824682	0.0274020758775891	0.13771	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.99	2.01	0.25568	0.418000	0.20950	1.317000	0.25577	-0.161000	0.11593	0.000000	0.06391	0.028000	0.21151	0.014000	0.10232	0.1934:0.0:0.6227:0.1838	4.195	0.09899	623	0.65786	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1277.98	33	chr1	91976319	.	G	A	1277.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=838;ExcessHet=0.0000;FS=0.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=-7.900e-02;SOR=0.611	GT:AD:DP:GQ:PL	0/1:78,58:136:99:1292,0,1720	20	0	1	0
chr1	92074654	92074654	T	C	exonic	SETSIP	.	nonsynonymous SNV	SETSIP:NM_001287737:exon1:c.A788G:p.D263G,	.	.	438	1056	11	0	17	28	0.00518135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00658946	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs115437630	0.0090	0.0088	0.0088	0.0092	0.0177	0.0089	0.0088	0.0143	0.0131	0.0026	0.0095	0.0173	5.402e-05	0.0012	0.0177	0.0097	0.0097	0.0080	0.0063	0.0064	0.0060	0.0067	0.0155	0.0060	0.0059	0.0138	0.0132	0.0015	0	0.0155	0.0167	0	0.0003	0.0272	0.0077	0.0154	0.0088	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.05670	.	.	.	.	.	.	.	0.004269868	0.00086	T	.	.	.	.	.	.	.	0.104622674875	0.10061	0.015321900822497066	0.01488	.	.	.	.	.	0.023791	0.18095	T	-0.6197	0.00110	T	-0.652544	0.08776	T	.	.	.	0.256074	0.03980	T	0.12479316	0.29272	0.31616184	0.57598	0.12479316	0.29272	0.31616184	0.57597	-5.569	0.42508	T	.	.	0.092	0.14888	B	.;.	.;.	1.565202	0.20044	14.56	0.50367695279588387	0.04372	0.21124	0.21290	N	AEFI	.	.	.	.	.	.	.	.	.	1.64582801883009E-6	0.01202	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0889061	0.20082	.	.	.	0.114000	0.15353	0.115000	0.14837	0.131000	0.17656	0.985000	0.35982	0.070000	0.22201	0.115000	0.18958	.	.	.	853	0.34956	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1147.06	47	chr1	92074654	.	T	C,*	1147.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-2.040e-01;DP=922;ExcessHet=0.1072;FS=4.578;InbreedingCoeff=-0.0501;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=6.67;ReadPosRankSum=0.284;SOR=0.664	GT:AD:DP:GQ:PL	0/1:55,48,0:103:99:1161,0,1390,1381,1573,3461	19	0	1	0
chr1	92074654	92074654	T	0	exonic	SETSIP	.	.	.	.	.	438	1056	11	0	17	28	0.00518135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1147.06	47	chr1	92074654	.	T	C,*	1147.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-2.040e-01;DP=922;ExcessHet=0.1072;FS=4.578;InbreedingCoeff=-0.0501;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=6.67;ReadPosRankSum=0.284;SOR=0.664	GT:AD:DP:GQ:PL	0/1:55,48,0:103:99:1161,0,1390,1381,1573,3461	19	0	1	0
chr1	102962726	102962726	C	T	exonic	COL11A1	.	nonsynonymous SNV	COL11A1:NM_080630:exon37:c.G2603A:p.R868H	Fibrochondrogenesis 1, Autosomal recessive;Marshall syndrome, Autosomal dominant;Stickler syndrome, type II, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	1685765	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.996	D	0.000	D	1.000	D	2.625	M	-3.2	D	0.964	D	0.898	D	0.646	4.612	25.2	5.67	2.673	7.719	19.774	0.784	0.194993669092	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs147271219	9.577e-06	1.026e-05	5.445e-06	1.375e-05	5.974e-05	5.56e-06	4.35e-06	9.89e-06	3.7e-06	5.974e-05	4.472e-05	0	2.52e-05	0	0	5.396e-06	1.656e-05	2.319e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.004	0.65419	D	0.004	0.76473	D	0.999	0.90584	D	0.987	0.84481	D	0.000025	0.55875	D	0.115539	1	0.81001	D	1.935	0.51832	L	-3.21	0.93291	D	-4.26	0.77717	D	0.678	0.68863	0.964	0.96607	D	0.898	0.96615	D	10	0.82129383	0.81332	D	0.194994	0.86395	D	0.784	0.92827	.	.	0.902852253755	0.90188	0.21720161673046282	0.21636	0.146495811487	0.16535	0.833496212959	0.87099	D	0.73706	0.92686	D	0.130433	0.67403	D	0.125428	0.78593	D	0.879288375377655	0.52924	D	0.962304	0.85970	D	0.23872258	0.46753	0.21319602	0.45820	0.23872258	0.46753	0.21319602	0.45819	-11.349	0.82683	D	0.5946651012557155	0.66151	0.878	0.81325	P	.;.;.;.	.;.;.;.	5.017901	0.83372	28.0	0.9983409457044724	0.91542	0.98306	0.81462	D	AEFBI	0.942072	0.94616	D	0.893827443479501	0.91453	10.89179	0.864990643022795	0.93860	12.33182	0.999999693137499	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.67	5.67	0.87673	7.818000	0.84740	7.680000	0.65243	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.774	0.96381	870	0.31527	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1348.98	33	chr1	102962726	.	C	T	1348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.113;DP=775;ExcessHet=0.0000;FS=1.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.16;ReadPosRankSum=-7.830e-01;SOR=0.481	GT:AD:DP:GQ:PL	0/1:32,57:89:99:1363,0,620	20	0	1	0
chr1	108937248	108937248	C	T	exonic	CLCC1	.	nonsynonymous SNV	CLCC1:NM_001278203:exon5:c.G657A:p.M219I	.	.	.	.	.	.	.	.	.	.	.	941358	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.77	T	0.0	B	0.0	B	0.915	N	1.000	N	-1.5	N	0.95	T	-0.947	T	0.007	T	0.044	-2.351	0.004	-6.31	-1.173	-0.701	8.321	0.019	0.0123667437725	7.7e-05	.	5.771e-05	0.0005	0	0.0001	0	0	0	6.072e-05	7.76e-05	12	154602	rs111447204	4.652e-05	4.652e-05	5.445e-05	3.85e-05	0.0009	3.727e-05	3.411e-05	0.0006	0.0006	0.0009	0	0	0	0	0	0	0.0006	4.638e-05	0.0001	0.0001	0.0001	0.0001	0.0004	7.572e-05	6.277e-05	0.0003	0.0002	0.0004	0	0	0	0	0	0	0	0	0	0.47	0.10278	T	0.759	0.06598	T	0.0	0.02946	B	0.0	0.01387	B	0.914581	0.08530	N	0.957927	1	0.08975	N	-0.805	0.01590	N	0.95	0.43279	T	-0.37	0.14588	N	0.111	0.10911	-0.9469	0.41498	T	0.007	0.02399	T	10	0.021848857	0.00532	T	0.012367	0.30882	T	0.019	0.03383	0.423	0.46693	0.149567049428	0.14543	0.048632793796137955	0.04806	.	.	0.336975872517	0.15985	T	0.00389	0.03302	T	-0.615633	0.00117	T	-0.79209	0.02108	T	0.00890188861978279	0.00111	T	0.10379	0.00771	T	0.020051146	0.00550	0.031319845	0.01704	0.020051146	0.00550	0.031319845	0.01703	-3.481	0.18132	T	.	.	0.097	0.23219	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.577983	0.00251	0.004	0.54514869288369971	0.05153	0.04464	0.10072	N	AEFBI	0.039265	0.05679	N	-2.09451639798876	0.00132	0.005638222	-2.05168145328005	0.00237	0.01045207	0.251155555253594	0.18681	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	-6.31	0.01826	-0.636000	0.05562	-1.966000	0.04420	-1.426000	0.01121	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2958:0.3143:0.3899:0.0	8.321	0.31291	861	0.33516	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2237.98	33	chr1	108937248	.	C	T	2237.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.424;DP=838;ExcessHet=0.0000;FS=2.929;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.63;ReadPosRankSum=-6.340e-01;SOR=0.471	GT:AD:DP:GQ:PL	0/1:63,90:153:99:2252,0,1405	20	0	1	0
chr1	109250116	109250116	-	CGC	exonic	CELSR2	.	nonframeshift insertion	CELSR2:NM_001408:exon1:c.37_38insCGC:p.P16_L17insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	1/1:0,51,0:51:99:2239,153,0,2239,153,2239	1	11	8	0
chr1	109250114	109250116	CGC	-	exonic	CELSR2	.	nonframeshift deletion	CELSR2:NM_001408:exon1:c.35_37del:p.P16del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.599e-06	3.557e-05	7.286e-06	5.903e-06	3.316e-05	3.11e-06	2.25e-06	8.9e-07	6e-07	3.316e-05	0	0	2.792e-05	0	0	3.793e-06	3.555e-05	1.259e-05	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	1/1:0,51,0:51:99:2239,153,0,2239,153,2239	1	11	8	0
chr1	110222977	110222977	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C692G:p.A231G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.727	P	0.3	B	0.001	D	0.994	D	1.305	L	-4.19	D	0.589	D	0.723	D	0.404	2.090	12.95	4.88	2.425	3.659	11.857	0.456	0.0722916072849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0034	0.0008	0.0006	0.0008	0.0007	0.0006	0.0008	0.0008	0.0008	0	0.0003	0.0002	1.877e-05	0.0002	0.0008	0.0008	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.315	0.21144	T	0.051	0.42493	B	0.157	0.41053	B	0.000921	0.41028	D	0.275191	0.99437	0.42258	D	2.415	0.69758	M	-4.19	0.96908	D	-2.8	0.59226	D	0.438	0.47672	0.589	0.91750	D	0.723	0.90514	D	10	0.35339242	0.52146	T	0.072292	0.71493	D	0.456	0.75483	0.363	0.36874	0.993177892102	0.99310	0.7526387987383419	0.75210	1.08132311467	0.77145	0.672360956669	0.63174	T	0.667086	0.90076	D	0.175355	0.71615	D	0.0141088	0.71248	D	0.842766284942627	0.49555	D	0.923008	0.74652	D	0.2548791	0.48519	0.22605044	0.47570	0.2548791	0.48519	0.22605044	0.47569	-8.263	0.63102	D	.	.	0.237	0.47944	B	.;.;.	.;.;.	3.598856	0.50823	23.0	0.99047415397653182	0.51162	0.96210	0.68040	D	AEFDGBI	0.477094	0.52023	N	0.0886515093145786	0.45935	2.841749	0.218624017239798	0.50879	3.275622	0.993656479131254	0.33302	0.651	0.46895	0	0.588066	0.40923	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.88	4.88	0.63131	2.965000	0.48892	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9187:0.0:0.0813	11.857	0.51719	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2812	1718.31	106	chr1	110222977	.	C	G	1718.31	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-2.042e+00;DP=2418;ExcessHet=4.7172;FS=80.588;InbreedingCoeff=-0.3827;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.44;ReadPosRankSum=1.63;SOR=11.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:90,19:109:14:.:.:14,0,1353	7	0	9	5
chr1	110232447	110232447	G	C	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001377331:exon3:c.G1109C:p.G370A,	.	.	445	1067	10	0	0	10	0.00466418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985085514	0.0003	0.0003	0.0002	0.0003	0.0039	0.0002	0.0002	0.0025	0.0021	0.0002	0.0002	0	0	0.0003	0.0039	0.0001	0.0006	0.0018	0.0002	0.0002	5.139e-05	0.0003	0.0017	0.0001	9.696e-05	0.0008	0.0006	7.219e-05	0	0.0001	0	0	0	0.0034	0.0001	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	431.98	26	chr1	110232447	.	G	C	431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.931e+00;DP=612;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=0.525;SOR=0.452	GT:AD:DP:GQ:PL	0/1:15,18:33:99:446,0,501	20	0	1	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.019	B	0.006	B	0.000	N	1.000	D	0.55	N	1.89	T	-0.961	T	0.016	T	0.249	0.420	6.281	2.7	0.841	0.795	6.367	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1360.52	107	chr1	112913901	.	C	G,T	1360.52	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.601e+00;DP=1739;ExcessHet=4.7172;FS=69.726;InbreedingCoeff=-0.2738;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=0.901;SOR=9.894	GT:AD:DP:GQ:PL	0/1:104,19,3:126:36:36,0,2371,310,2403,2725	12	0	8	0
chr1	112913901	112913901	C	T	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493A:p.S498N	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.626	P	0.219	B	0.000	N	1.000	D	0.55	N	1.87	T	-1.064	T	0.021	T	0.104	1.964	12.53	2.7	0.841	0.795	6.367	0.041	0.0129096832338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.114	0.36765	T	0.626	0.40074	P	0.219	0.37734	B	0.000194	0.00507	N	3.613670	0.542923	0.32069	D	0.55	0.14455	N	1.87	0.24085	T	-0.51	0.15986	N	0.234	0.26354	-1.0643	0.10713	T	0.021	0.08686	T	10	0.10610628	0.19646	T	0.01291	0.31889	T	0.041	0.10877	0.121	0.02793	0.200294437569	0.19612	0.24899618109934885	0.24813	0.315069041011	0.33789	0.411491125822	0.26663	T	0.106424	0.41776	T	-0.242444	0.15039	T	-0.58603	0.14011	T	0.547992467880249	0.34402	D	.	.	.	0.096315265	0.22684	0.08850896	0.20641	0.096315265	0.22683	0.08850896	0.20641	-4.187	0.26563	T	.	.	0.102	0.18206	B	.;.	.;.	1.870468	0.23763	16.14	0.98071642327873421	0.38030	0.50322	0.28636	D	AEFBI	0.126630	0.24365	N	-0.162150398385312	0.34719	1.985187	-0.0858474992985718	0.35975	2.087787	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1360.52	107	chr1	112913901	.	C	G,T	1360.52	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.601e+00;DP=1739;ExcessHet=4.7172;FS=69.726;InbreedingCoeff=-0.2738;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=0.901;SOR=9.894	GT:AD:DP:GQ:PL	0/1:104,19,3:126:36:36,0,2371,310,2403,2725	12	0	8	0
chr1	113900251	113900251	G	A	exonic	AP4B1	.	nonsynonymous SNV	AP4B1:NM_001308312:exon2:c.C263T:p.T88I	Spastic paraplegia 47, autosomal recessive, Autosomal recessive	.	0	1499	23	0	0	23	0.00761337	.	.	215180	not_provided|not_specified|Hereditary_spastic_paraplegia|Inborn_genetic_diseases|AP4B1-related_disorder|Hereditary_spastic_paraplegia_47	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0013551,MedGen:C3279738,OMIM:614066,Orphanet:280763	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.67	T	0.083	B	0.089	B	0.000	D	0.997	D	0.075	N	2.86	T	-1.025	T	0.016	T	0.522	2.514	14.37	5.09	2.520	5.892	18.860	0.176	0.0105542815335	0.0011	0.00119808	0.0013	0.0004	0.0020	0	0	0.0015	0	0.0018	0.001313	203	154602	rs143286419	0.0013	0.0013	0.0013	0.0014	0.0342	0.0013	0.0013	0.0303	0.0288	0.0015	0.0029	0.0019	0	1.876e-05	0.0342	0.0011	0.0023	0.0018	0.0014	0.0015	0.0012	0.0017	0.0039	0.0013	0.0012	0.0031	0.0028	0.0008	0	0.0039	0.0003	0	0	0.0204	0.0014	0.0038	0.0025	0.446	0.09101	T	0.518	0.10536	T	0.014	0.16867	B	0.02	0.19048	B	0.000374	0.45194	D	0.259697	0.997088	0.43619	D	-0.19	0.04217	N	2.13	0.19588	T	0.72	0.02518	N	0.781	0.77789	-1.0251	0.22050	T	0.016	0.06329	T	10	0.009812593	0.00220	T	0.010554	0.27217	T	0.176	0.44373	.	.	0.480647642424	0.47694	0.22572069538325795	0.22487	0.135383223776	0.15262	0.529147326946	0.42913	T	0.061945	0.34700	T	-0.438873	0.01313	T	-0.407802	0.32480	T	0.0253416822341745	0.01318	T	0.918208	0.72634	D	0.18973304	0.40527	0.16205072	0.37662	0.18973304	0.40527	0.16205072	0.37661	-10.398	0.76259	D	0.2050978328686585	0.27353	0.28	0.52841	B	.;.;.;.;.;.	.;.;.;.;.;.	3.086434	0.41541	21.4	0.89591819392506655	0.18929	0.92439	0.55715	D	AEFDBI	0.635662	0.61510	D	-0.186115556344549	0.33712	1.915728	0.0515450848008477	0.42146	2.544233	0.999999897504337	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.09	5.09	0.68647	5.954000	0.70017	11.750000	0.95386	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.860	0.92236	574	0.70151	Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1834.98	33	chr1	113900251	.	G	A	1834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.799;DP=841;ExcessHet=0.0000;FS=0.598;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-4.100e-02;SOR=0.754	GT:AD:DP:GQ:PL	0/1:77,75:152:99:1849,0,1879	20	0	1	0
chr1	114587850	114587850	C	T	exonic	DENND2C	.	nonsynonymous SNV	DENND2C:NM_198459:exon16:c.G2363A:p.R788H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.986	D	0.000	D	0.999	N	2.44	M	0.82	T	-0.735	T	0.227	T	0.766	4.902	28.2	5.9	2.817	4.847	13.529	0.296	0.0241330380233	.	0.000199681	8.246e-06	9.628e-05	0	0	0	0	0	0	1.94e-05	3	154602	rs566142081	8.893e-06	8.893e-06	6.806e-06	1.1e-05	7.557e-05	4.96e-06	3.82e-06	2.194e-05	1.43e-05	5.974e-05	0	0	7.557e-05	0	0	2.698e-06	0	5.797e-05	1.314e-05	1.313e-05	0	2.688e-05	0.0002	2.18e-06	8.2e-07	.	.	2.408e-05	0	0	0	0	0	0	0	0	0.0002	0.005	0.63226	D	0.026	0.55759	D	0.952	0.90584	P	0.629	0.76916	P	0.000000	0.84330	D	0.000000	0.997913	0.45372	D	2.015	0.55033	M	0.82	0.48142	T	-4.23	0.75935	D	0.444	0.48227	-0.7350	0.58710	T	0.227	0.59208	T	10	0.3224287	0.49593	T	0.024133	0.47114	T	0.296	0.61616	.	.	0.696919445781	0.69430	0.3820348124590294	0.38118	0.158669264731	0.17909	0.651320695877	0.60173	T	0.043162	0.26414	T	-0.0756629	0.40416	T	-0.143807	0.59787	T	0.740192472934723	0.42747	D	0.956004	0.83854	D	0.3202223	0.54659	0.2053714	0.44704	0.3202223	0.54659	0.2053714	0.44703	-8.273	0.64673	D	.	.	0.149	0.46085	B	.;.;.	.;.;.	4.840499	0.79023	27.0	0.99947244098105692	0.99913	0.96833	0.71185	D	AEFDGBHI	0.793019	0.72114	D	0.754901039542857	0.83226	7.961649	0.755258522221502	0.86547	8.925014	0.999987352567253	0.51787	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.9	5.9	0.94952	3.023000	0.49350	4.833000	0.45216	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.992000	0.67800	0.0:0.929:0.0:0.071	13.529	0.61070	731	0.54177	.;Tripartite DENN domain|dDENN domain;Tripartite DENN domain|dDENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1736.98	35	chr1	114587850	.	C	T	1736.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.750e-01;DP=893;ExcessHet=0.0000;FS=1.247;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=0.943;SOR=0.677	GT:AD:DP:GQ:PL	0/1:79,78:157:99:1751,0,1730	20	0	1	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.033	B	0.015	B	0.000	D	0.999	D	-1.545	N	.	.	-0.951	T	0.015	T	0.585	0.535	6.895	5.89	2.787	4.426	15.011	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	6766.73	121	chr1	114732648	.	C	G	6766.73	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.661e+00;DP=3409;ExcessHet=54.0936;FS=245.736;InbreedingCoeff=-0.9995;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.26;ReadPosRankSum=1.31;SOR=12.755	GT:AD:DP:GQ:PL	0/1:100,65:174:99:477,0,1449	0	0	21	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	2354.68	101	chr1	145872713	.	C	G	2354.68	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-3.628e+00;DP=2761;ExcessHet=20.9642;FS=143.279;InbreedingCoeff=-0.5874;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.11;ReadPosRankSum=0.894;SOR=12.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,40:154:99:0|1:145872713_C_G:237,0,3224:145872713	5	0	16	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.35	2100.21	101	chr1	145872714	.	C	G	2100.21	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-4.135e+00;DP=2664;ExcessHet=14.4320;FS=138.726;InbreedingCoeff=-0.4963;MLEAC=14;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=1.14;ReadPosRankSum=0.919;SOR=11.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,40:154:99:0|1:145872713_C_G:237,0,3224:145872713	6	0	14	1
chr1	148115995	148115995	C	G	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon13:c.G1383C:p.E461D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.841	P	0.839	P	.	.	1.000	N	2.76	M	2.95	T	-1.091	T	0.037	T	0.208	-0.673	1.060	0.118	0.191	0.004	.	0.036	0.000687859755564	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1292662588	3.622e-06	1.311e-05	4.349e-06	2.895e-06	0.0001	1.06e-06	7.7e-07	4.528e-05	2.705e-05	0.0001	0	0	0	0	0	0	1.741e-05	0	0.0010	0.0025	0.0008	0.0011	0.0016	0.0008	0.0008	0.0009	0.0008	0.0010	0	0.0007	0.0009	0.0016	0.0002	0.0037	0.0011	0.0005	0.0007	.	.	.	0.09	0.51421	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	3.415	0.91848	M	.	.	.	.	.	.	0.092	0.10626	-1.0912	0.05335	T	0.037	0.15986	T	8	0.18447807	0.33823	T	6.88E-4	0.00418	T	.	.	0.362	0.36711	0.74206184359	0.73974	0.01487929977484634	0.01444	.	.	.	.	.	0.115703	0.43448	T	-0.145147	0.29075	T	-0.44627	0.28110	T	0.456752359867096	0.31046	T	0.69513	0.30474	T	0.1386144	0.32050	0.13419934	0.32163	0.1386144	0.32050	0.13419934	0.32162	-7.595	0.58276	D	.	.	0.186	0.45421	B	.;.;.;.	.;.;.;.	1.189406	0.15807	12.12	0.17923103723035594	0.00542	0.00373	0.01896	N	AEFI	0.043286	0.06824	N	-0.439477027746094	0.24099	1.298819	-0.76956715955876	0.15242	0.8006484	1.11536234223363E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	0.118	0.118	0.13972	-0.727000	0.05034	-10.754000	0.00669	-0.732000	0.03721	0.009000	0.18154	0.000000	0.08366	0.022000	0.11911	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	920.98	35	chr1	148115995	.	C	G	920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.984e+00;DP=777;ExcessHet=0.0000;FS=0.853;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.86;MQRankSum=-6.990e-01;QD=8.77;ReadPosRankSum=0.867;SOR=0.868	GT:AD:DP:GQ:PL	0/1:64,41:105:99:935,0,1663	20	0	1	0
chr1	149021111	149021111	A	G	exonic	PDE4DIP	.	nonsynonymous SNV	PDE4DIP:NM_001350520:exon33:c.A6529G:p.I2177V	.	.	591	902	27	2	0	31	0.0168937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.022	B	0.007	B	.	.	1.000	D	1.39	L	4.99	T	-1.000	T	0.084	T	0.295	2.376	13.90	3.51	1.948	2.165	4.269	0.050	0.00557351307489	.	.	.	.	.	.	.	.	.	.	.	.	.	rs145618115	0.0028	0.0028	0.0026	0.0029	0.0222	0.0027	0.0026	0.0177	0.0160	0.0010	0.0036	0.0041	0	0.0003	0.0222	0.0032	0.0039	0.0011	0.0028	0.0028	0.0028	0.0028	0.0051	0.0025	0.0025	0.0042	0.0038	0.0007	0	0.0051	0.0032	0	0.0004	0.0204	0.0040	0.0057	0.0013	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.56	0.00874	T	0.15	0.05310	N	0.299	0.35514	.	.	.	.	.	.	.	0.035420418	0.01790	T	.	.	.	.	.	.	.	.	.	0.22600125266837892	0.22515	.	.	.	.	.	0.00372	0.15341	T	.	.	.	.	.	.	.	.	.	0.780422	0.42944	T	.	.	.	.	.	.	.	.	-2.012	0.03226	T	.	.	0.196	0.41947	B	.;.;.;.;.	.;.;.;.;.	2.475599	0.31918	18.88	.	.	.	.	.	.	0.092468	0.18719	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.389000	0.44060	3.828000	0.39982	0.558000	0.28311	1.000000	0.71638	1.000000	0.68203	0.601000	0.31412	.	.	.	895	0.25842	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	655.0	16	chr1	149021111	.	A	G	655.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.854;DP=497;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0310;MLEAC=1;MLEAF=0.024;MQ=28.90;MQRankSum=2.12;QD=26.20;ReadPosRankSum=-1.754e+00;SOR=0.749	GT:AD:DP:GQ:PL	0/1:2,23:25:15:669,0,15	20	0	1	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C	.	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	.	.	.	.	.	.	1.000	N	.	.	4.24	T	-0.912	T	0.002	T	0.328	-0.960	0.324	0.43	-1.589	-0.069	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4762	30341.43	581	chr1	149075685	.	C	A	30341.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.56;DP=9689;ExcessHet=43.6797;FS=6.799;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=47.24;MQRankSum=-6.707e+00;QD=3.24;ReadPosRankSum=-1.735e+00;SOR=1.328	GT:AD:DP:GQ:PL	0/1:157,129:286:99:2906,0,3782	1	0	20	0
chr1	150949193	150949193	C	T	exonic	SETDB1	.	nonsynonymous SNV	SETDB1:NM_001145415:exon11:c.C1339T:p.P447S	.	.	.	.	.	.	.	.	.	.	.	731708	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.011	B	0.007	B	0.000	N	1.000	D	0.69	N	1.56	T	-0.685	T	0.267	T	0.139	2.387	13.94	4.39	1.240	1.113	9.985	0.081	0.0267127335484	0.0005	0.000998403	0.0002	0.0025	0	0	0	0	0	0	0.0002005	31	154602	rs114623995	4.994e-05	4.994e-05	6.262e-05	3.713e-05	0.0020	4.059e-05	3.734e-05	0.0016	0.0015	0.0020	4.472e-05	0	0	0	0.0002	0	4.968e-05	0	0.0004	0.0004	0.0004	0.0004	0.0013	0.0003	0.0003	0.0011	0.0010	0.0013	0	0.0002	0	0	0	0	0	0.0005	0	0.106	0.35918	T	0.56	0.54934	T	0.004	0.15914	B	0.003	0.12992	B	0.000002	0.62929	N	0.102864	0.957295	0.38017	D	1.39	0.34934	L	-2.2	0.86888	D	-0.24	0.15578	N	0.185	0.20129	-0.6855	0.61118	T	0.267	0.63887	T	10	0.005208373	0.00113	T	0.026713	0.49594	D	0.081	0.23632	.	.	0.507288889495	0.50368	0.32729181067152163	0.32642	0.622495851755	0.56515	0.475022166967	0.35373	T	0.059504	0.31133	T	-0.365973	0.03803	T	-0.305255	0.44166	T	0.023917089126357	0.01134	T	0.741926	0.36121	T	0.05351578	0.10138	0.064455956	0.12920	0.05351578	0.10137	0.064455956	0.12919	-5.763	0.44566	T	.	.	0.100	0.17189	B	.;.;.;.	.;.;.;.	2.946017	0.39182	20.9	0.99455227559694115	0.65479	0.14257	0.18307	N	AEFBCI	0.161353	0.28741	N	-0.289588131313683	0.29548	1.639653	-0.106364333660369	0.35133	2.028975	0.0221519290445821	0.13408	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	4.39	0.52211	2.856000	0.48040	3.269000	0.37146	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1381:0.7895:0.0:0.0724	9.985	0.41008	84	0.96491	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1279.98	33	chr1	150949193	.	C	T	1279.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.534e+00;DP=815;ExcessHet=0.0000;FS=1.496;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=-7.460e-01;SOR=0.864	GT:AD:DP:GQ:PL	0/1:60,54:114:99:1294,0,1563	20	0	1	0
chr1	151316420	151316420	G	C	exonic	PI4KB	.	nonsynonymous SNV	PI4KB:NM_001198774:exon2:c.C62G:p.P21R	.	.	435	1085	1	0	1	2	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.001	B	0.001	B	0.040	N	0.974	N	0	N	-0.26	T	-1.053	T	0.048	T	0.271	0.433	6.350	2.69	0.461	2.778	5.174	0.042	0.00822054158186	0.0025	0.00139776	0.0006	0.0071	0.0002	0	0	1.588e-05	0	0	0.0005369	83	154602	rs138899197	0.0002	0.0002	0.0002	0.0001	0.0063	0.0002	0.0001	0.0056	0.0053	0.0063	0.0003	0	0	0	0.0002	9.108e-07	0.0004	6.178e-05	0.0017	0.0017	0.0016	0.0017	0.0058	0.0015	0.0014	0.0052	0.0050	0.0058	0	0.0002	0	0	0	0	1.47e-05	0.0028	0	0.041	0.46910	D	0.427	0.13832	T	0.001	0.07471	B	0.001	0.04355	B	0.039622	0.24149	N	0.445406	0.974463	0.39107	D	1.245	0.31408	L	-0.26	0.67187	T	0.01	0.07590	N	0.332	0.50598	-1.0531	0.13547	T	0.048	0.20395	T	10	0.0055983365	0.00124	T	0.008221	0.21776	T	0.042	0.11227	.	.	0.382607109125	0.37878	0.30433151639222694	0.30346	0.446594921837	0.44532	0.445157051086	0.31282	T	0.123974	0.44870	T	-0.422489	0.01650	T	-0.376624	0.36116	T	0.0106167869188809	0.00148	T	0.882412	0.62800	D	0.04369393	0.06855	0.037043735	0.03275	0.04369393	0.06854	0.037043735	0.03275	-4.907	0.35814	T	.	.	0.081	0.09094	B	.;.;.;.;.	.;.;.;.;.	2.884595	0.38179	20.7	0.82130478145465557	0.14034	0.95834	0.66353	D	AEFDBI	0.234546	0.35729	N	-0.718993776172487	0.15489	0.7809895	-0.577714967987462	0.20075	1.079947	0.857419155618655	0.25160	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.53	2.69	0.30923	3.817000	0.55371	7.661000	0.64234	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	0.2237:0.0:0.6311:0.1452	5.174	0.14451	102	0.95784	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1758.98	40	chr1	151316420	.	G	C	1758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.864e+00;DP=904;ExcessHet=0.0000;FS=1.395;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=-8.550e-01;QD=12.84;ReadPosRankSum=-3.760e-01;SOR=0.556	GT:AD:DP:GQ:PL	0/1:59,78:137:99:1773,0,1491	20	0	1	0
chr1	152111160	152111160	G	C	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.C2057G:p.A686G,	.	.	.	.	.	.	.	.	.	.	.	706693	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.36	T	0.982	D	0.679	P	.	.	1.000	N	0.695	N	3.38	T	-0.906	T	0.007	T	0.032	1.855	12.16	0.34	0.212	0.337	7.785	0.037	.	0.0042	0.00459265	0.0013	0.0153	0.0006	0	0	0	0.0022	6.056e-05	0.0012872	199	154602	rs114824000	0.0005	0.0005	0.0006	0.0004	0.0186	0.0005	0.0005	0.0174	0.0169	0.0186	0.0009	0	0	0	0.0007	1.259e-05	0.0011	2.319e-05	0.0041	0.0041	0.0041	0.0041	0.0143	0.0038	0.0037	0.0134	0.0130	0.0143	0	0.0018	0	0	0	0	0	0.0014	0	0.0	0.91255	D	0.166	0.30828	T	0.982	0.60036	D	0.679	0.53442	P	.	.	.	.	1	0.08975	N	0.55	0.14455	N	3.38	0.05778	T	-0.92	0.24676	N	0.219	0.24510	-0.9061	0.47320	T	0.007	0.02439	T	9	0.0060623884	0.00136	T	.	.	.	0.037	0.09474	.	.	0.552822141497	0.54940	0.011036396210618938	0.01064	0.267143712673	0.29252	0.432920783758	0.29608	T	0.002044	0.01452	T	-0.671417	0.00054	T	-0.724896	0.04563	T	0.0375677139865913	0.03255	T	0.19558	0.02146	T	0.21041337	0.43336	0.23605268	0.48865	0.18964507	0.40515	0.25175208	0.50791	-3.484	0.16209	T	.	.	0.339	0.55835	B	.;.	.;.	2.390162	0.30693	18.52	0.87492978084751705	0.17266	0.16849	0.19576	N	AEFDBHCI	0.085550	0.17343	N	-0.490868132728884	0.22379	1.194585	-0.641786674535664	0.18424	0.984165	0.999898209343745	0.45129	0.582742	0.33608	0	0.541168	0.11318	0	0.378051	0.06126	2	0.603991	0.37454	0	.	.	4.3	0.34	0.15224	2.568000	0.45628	.	.	0.491000	0.22372	0.346000	0.25726	0.049000	0.21787	0.591000	0.31164	0.391:0.0:0.609:0.0	7.785	0.28251	480	0.77422	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	2556.98	66	chr1	152111160	.	G	C	2556.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.109e+00;DP=1426;ExcessHet=0.0000;FS=3.437;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=-7.930e-01;SOR=0.476	GT:AD:DP:GQ:PL	0/1:74,111:185:99:2571,0,1742	20	0	1	0
chr1	152112091	152112091	-	CTGCTCGCGCCTCTCCTCCTC	exonic	TCHH	.	nonframeshift insertion	TCHH:NM_007113:exon3:c.1125_1126insGAGGAGGAGAGGCGCGAGCAG:p.Q375_Q376insEEERREQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0019	0.0006	0	0	0.0001	0	0.0003	3.84e-05	1	26028	rs775651068	0.0004	0.0004	0.0004	0.0004	0.0059	0.0003	0.0003	0.0052	0.0049	0.0059	0.0008	0.0023	0.0010	0	0.0007	0.0001	0.0008	0.0005	6.43e-05	7.653e-05	7.043e-05	5.761e-05	0.0002	2.968e-05	2.114e-05	7.459e-05	4.827e-05	0.0002	0	9.549e-05	0.0003	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	30.31	43	chr1	152112091	.	G	GCTGCTCGCGCCTCTCCTCCTC	30.31	.	AC=1;AF=0.024;AN=42;DP=733;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.37;QD=2.53;SOR=0.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,0:12:99:1|0:152112049_TCAG_T:208,0,480:152112049	20	0	1	0
chr1	152216231	152216231	T	A	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.A5398T:p.T1800S,	.	.	431	1078	13	0	0	13	0.00599355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.0	B	.	.	1.000	N	-0.755	N	4.82	T	-0.970	T	0.001	T	0.065	0.777	8.104	-1.68	-0.779	0.003	4.774	0.006	0.00628436995336	.	.	0.0004	0.0026	0.0013	0.0004	0.0002	0.0002	0.0016	0.0003	3.84e-05	1	26028	rs747556761	4.199e-05	0.0013	4.316e-05	4.08e-05	0.0008	3.319e-05	2.987e-05	0.0003	0.0002	6.565e-05	9.376e-05	3.949e-05	0.0001	1.903e-05	0.0008	2.382e-05	0.0001	0.0001	0.0004	0.0044	0.0004	0.0004	0.0013	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0004	0	0.0013	0	0	9.062e-05	0	0.0005	0.723	0.03892	T	0.655	0.06621	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.565	0.00047	N	4.82	0.01504	T	0.52	0.02853	N	0.045	0.01740	-0.9701	0.37179	T	0.001	0.00188	T	9	0.012336522	0.00265	T	0.006284	0.16493	T	0.006	0.00375	.	.	0.206339911435	0.20273	0.015951484976090592	0.01551	.	.	0.614307284355	0.54924	T	0.014008	0.12005	T	-0.406332	0.02103	T	-0.821444	0.01423	T	0.00740461984777442	0.00085	T	0.105489	0.00786	T	0.023239922	0.01046	0.03235243	0.01958	0.023239922	0.01046	0.03235243	0.01958	-5.365	0.40582	T	.	.	0.077	0.06250	B	.	.	-0.434549	0.02086	0.194	0.73827392168679173	0.10470	0.00062	0.00453	N	AEFGBI	0.016420	0.00368	N	-1.6270208058138	0.01135	0.04932641	-1.60701516157953	0.01613	0.07318866	8.32860478702022E-5	0.04703	0.553676	0.25195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.94	-1.68	0.07773	-0.505000	0.06448	.	.	-0.810000	0.03076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2859:0.0:0.1033:0.6108	4.774	0.12542	569	0.70546	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	439.82	378	chr1	152216231	.	T	A	439.82	.	AC=2;AF=0.050;AN=40;BaseQRankSum=6.55;DP=5746;ExcessHet=0.1072;FS=71.508;InbreedingCoeff=-0.0640;MLEAC=2;MLEAF=0.050;MQ=29.65;MQRankSum=0.280;QD=1.16;ReadPosRankSum=-3.850e+00;SOR=6.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,21:192:99:0|1:152216231_T_A:301,0,7037:152216231	18	0	2	1
chr1	152216237	152216240	ATCC	-	exonic	HRNR	.	frameshift deletion	HRNR:NM_001009931:exon3:c.5389_5392del:p.G1797Lfs*193,	.	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	.	0.0001	0.0013	0	0.0002	0	4.393e-05	0.0016	0	7.68e-05	2	26028	rs754237366	2.14e-05	0.0006	2.335e-05	1.943e-05	0.0006	1.534e-05	1.336e-05	0.0002	8.597e-05	3.101e-05	4.55e-05	0	0.0001	1.891e-05	0.0006	9.053e-06	3.356e-05	9.367e-05	0.0002	0.0028	0.0002	0.0002	0.0010	0.0001	9.9e-05	0.0004	0.0003	0.0004	0	6.673e-05	0	0.0010	0	0	2.951e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	197.94	378	chr1	152216236	.	GATCC	G	197.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.705e+00;DP=5667;ExcessHet=0.0000;FS=36.875;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=29.62;MQRankSum=0.649;QD=1.04;ReadPosRankSum=-4.828e+00;SOR=5.103	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,18:190:99:0|1:152216231_T_A:212,0,7142:152216231	20	0	1	0
chr1	152216237	152216237	A	C	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.T5392G:p.S1798A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	T	0.005	B	0.005	B	.	.	1.000	N	1.32	L	4.61	T	-0.903	T	0.002	T	0.042	0.115	4.616	0.01	-0.102	0.210	6.046	0.030	0.00320718309653	.	.	3.976e-05	0.0003	0	0.0002	0.0002	0	0	0	3.84e-05	1	26028	rs200918497	4.864e-06	0.0003	1.382e-06	8.382e-06	3.182e-05	2.02e-06	1.3e-06	8.5e-07	5.8e-07	3.182e-05	2.306e-05	0	2.568e-05	0	0	3.642e-06	0	0	4.84e-05	0.0009	2.702e-05	7.083e-05	0.0001	2.209e-05	1.591e-05	5.326e-05	3.477e-05	0.0001	0	6.895e-05	0	0	0	0	1.492e-05	0	0	0.102	0.30235	T	0.564	0.08991	T	0.005	0.12996	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.905	0.50856	L	4.61	0.01851	T	-0.91	0.24460	N	0.062	0.03392	-0.9028	0.47694	T	0.002	0.00556	T	9	0.044402808	0.03392	T	0.003207	0.07057	T	0.030	0.07022	.	.	0.226586394389	0.22295	0.014213539113717704	0.01378	.	.	0.627296507359	0.56762	T	0.014355	0.12236	T	-0.383644	0.02954	T	-0.788855	0.02196	T	0.0236981678754091	0.01108	T	0.10279	0.00763	T	0.059813246	0.12200	0.046131834	0.06363	0.059813246	0.12199	0.046131834	0.06362	-7.573	0.58122	D	.	.	0.125	0.26294	B	.	.	0.147715	0.05405	1.881	0.31025658243923265	0.01727	0.02987	0.07842	N	AEFGBI	0.027282	0.02201	N	-1.63258280185297	0.01110	0.0482174	-1.65035894350604	0.01374	0.0620649	5.2093764113644E-5	0.04171	0.553676	0.25195	0	0.547309	0.14657	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.94	0.01	0.13403	0.193000	0.16921	.	.	-0.786000	0.03287	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6033:0.3077:0.089:0.0	6.046	0.18986	569	0.70546	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	86.06	378	chr1	152216237	.	A	C,*	86.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.81;DP=5668;ExcessHet=0.1072;FS=64.911;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=30.01;MQRankSum=0.061;QD=0.24;ReadPosRankSum=-4.736e+00;SOR=6.149	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:172,0,18:190:99:0|1:152216231_T_A:212,729,7925,0,7196,7142:152216231	19	0	1	0
chr1	152216237	152216237	A	0	exonic	HRNR	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	86.06	378	chr1	152216237	.	A	C,*	86.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.81;DP=5668;ExcessHet=0.1072;FS=64.911;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=30.01;MQRankSum=0.061;QD=0.24;ReadPosRankSum=-4.736e+00;SOR=6.149	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:172,0,18:190:99:0|1:152216231_T_A:212,729,7925,0,7196,7142:152216231	19	0	1	0
chr1	152216240	152216240	-	ATGTTGGCCACAG	exonic	HRNR	.	frameshift insertion	HRNR:NM_001009931:exon3:c.5388_5389insCTGTGGCCAACAT:p.G1797Lfs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1353813359	0	3.426e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.691e-05	0.0006	1.314e-05	4.135e-05	7.671e-05	8.29e-06	5.24e-06	2.034e-05	1.064e-05	7.671e-05	0	0	0	0	0	0	1.477e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	62.03	378	chr1	152216240	.	C	CATGTTGGCCACAG,*	62.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.982;DP=5553;ExcessHet=0.1072;FS=62.755;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=30.05;MQRankSum=0.582;QD=0.17;ReadPosRankSum=-4.845e+00;SOR=6.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:172,0,18:190:99:0|1:152216231_T_A:212,729,7925,0,7196,7142:152216231	19	0	1	0
chr1	152216240	152216240	C	0	exonic	HRNR	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	62.03	378	chr1	152216240	.	C	CATGTTGGCCACAG,*	62.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.982;DP=5553;ExcessHet=0.1072;FS=62.755;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=30.05;MQRankSum=0.582;QD=0.17;ReadPosRankSum=-4.845e+00;SOR=6.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:172,0,18:190:99:0|1:152216231_T_A:212,729,7925,0,7196,7142:152216231	19	0	1	0
chr1	152216244	152216244	-	ATGT	exonic	HRNR	.	frameshift insertion	HRNR:NM_001009931:exon3:c.5384_5385insACAT:p.E1796Hfs*5,	.	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.182e-05	0.0009	0	0	0	2.379e-05	0.0018	0	7.68e-05	2	26028	rs762457435	1.525e-05	0.0005	1.655e-05	1.393e-05	0.0004	9.98e-06	8.52e-06	7.162e-05	2.981e-05	3.141e-05	2.29e-05	0	0.0001	0	0.0004	3.634e-06	6.738e-05	7.061e-05	0.0001	0.0025	0.0002	9.858e-05	0.0010	8.528e-05	7.023e-05	0.0004	0.0003	0.0003	0	6.859e-05	0	0.0010	0	0	2.974e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	149.29	378	chr1	152216244	.	C	CATGT	149.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.444;DP=5496;ExcessHet=0.0000;FS=35.012;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=29.49;MQRankSum=0.948;QD=0.81;ReadPosRankSum=-4.435e+00;SOR=5.036	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:169,16:185:99:0|1:152216231_T_A:163,0,7048:152216231	19	0	1	1
chr1	152313392	152313392	C	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G1494C:p.E498D,	Ichthyosis vulgaris, Autosomal dominant	.	0	1519	2	1	0	4	0.00131492	.	.	1182788	not_provided|FLG-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.55	P	0.32	B	.	.	1.000	N	1.385	L	4.7	T	-0.934	T	0.002	T	0.039	0.626	7.365	-3.21	-0.335	0.628	1.148	0.097	.	0.0091	0.00678914	0.0024	0.0257	0.0010	0	0	8.99e-05	0.0022	6.056e-05	0.0022186	343	154602	rs13376095	0.0008	0.0008	0.0010	0.0007	0.0306	0.0008	0.0008	0.0291	0.0284	0.0306	0.0014	0	0	0	0.0021	3.328e-05	0.0015	4.637e-05	0.0074	0.0075	0.0077	0.0071	0.0261	0.0071	0.0069	0.0248	0.0243	0.0261	0	0.0023	0	0	0	0	1.471e-05	0.0043	0	0.104	0.29959	T	.	.	.	0.55	0.38124	P	0.32	0.41729	B	.	.	.	.	1	0.08975	N	1.52	0.38360	L	4.7	0.01673	T	-0.56	0.17003	N	0.106	0.09066	-0.9338	0.43575	T	0.002	0.00615	T	9	0.0029928088	0.00049	T	.	.	.	0.097	0.27909	0.14	0.04369	0.180583059064	0.17676	0.07340592082321702	0.07277	.	.	0.250814825296	0.03854	T	0.043806	0.26617	T	-0.756426	0.00016	T	-0.83838	0.01123	T	0.0160683168727286	0.00386	T	0.287571	0.05177	T	0.040496375	0.05791	0.052823875	0.08778	0.040496375	0.05790	0.052823875	0.08778	-8.267	0.62875	D	.	.	0.179	0.39012	B	.	.	-0.486927	0.01909	0.159	0.51324058698151331	0.04542	0.00865	0.03436	N	AEFBI	0.040450	0.06020	N	-1.10276389899643	0.06594	0.3039773	-1.28564853277061	0.04624	0.2185359	4.74699715789834E-5	0.03989	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.43	-3.21	0.04823	-2.932000	0.00753	.	.	-0.386000	0.05369	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.163:0.3004:0.3206:0.216	1.148	0.01671	588	0.69043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	5181.98	40	chr1	152313392	.	C	G	5181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.865e+00;DP=4589;ExcessHet=0.0000;FS=1.103;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=0.00;QD=11.89;ReadPosRankSum=-1.770e-01;SOR=0.618	GT:AD:DP:GQ:PL	0/1:241,195:436:99:5196,0,6660	20	0	1	0
chr1	152910506	152910506	C	0	exonic	IVL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	10818.93	25	chr1	152910506	.	C	CAGCAGCAGGAGGGGCAGCTGGAGCTCTCTG,G,*	10818.93	.	AC=18,2,2;AF=0.474,0.053,0.053;AN=38;BaseQRankSum=-2.960e-01;DP=998;ExcessHet=1.5433;FS=1.193;InbreedingCoeff=-0.0466;MLEAC=19,2,2;MLEAF=0.500,0.053,0.053;MQ=55.69;MQRankSum=0.00;QD=23.78;ReadPosRankSum=-1.521e+00;SOR=0.793	GT:AD:DP:GQ:PL	1/2:0,8,18,0:26:99:723,435,545,305,0,564,780,549,480,977	3	4	8	2
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.992	D	0.986	D	0.000	D	0.999	D	1.31	L	.	.	-0.865	T	0.172	T	0.819	4.131	21.3	2.28	0.340	1.167	8.751	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	2593.87	40	chr1	153760378	.	C	G	2593.87	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.650e+00;DP=2714;ExcessHet=17.4423;FS=282.183;InbreedingCoeff=-0.5203;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.34;ReadPosRankSum=0.949;SOR=11.919	GT:AD:DP:GQ:PL	0/1:83,59:142:99:369,0,876	6	0	15	0
chr1	154273376	154273378	GAT	-	exonic	HAX1	.	nonframeshift deletion	HAX1:NM_006118:exon2:c.94_96del:p.D34del,	Neutropenia, severe congenital 3, autosomal recessive, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	515091	Kostmann_syndrome	MONDO:MONDO:0012548,MedGen:C5235141,OMIM:610738,Orphanet:99749	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.000998403	0.0001	0.0016	8.649e-05	0	0	0	0	0	0.0001423	22	154602	rs560912060	4.31e-05	4.31e-05	4.628e-05	3.988e-05	0.0013	3.443e-05	3.129e-05	0.0010	0.0009	0.0013	6.708e-05	0	0	0	0	3.597e-06	0.0001	4.637e-05	0.0003	0.0003	0.0003	0.0004	0.0012	0.0003	0.0002	0.0009	0.0008	0.0012	0	0.0001	0	0	0	0	2.941e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1346.94	41	chr1	154273375	.	AGAT	A	1346.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=788;ExcessHet=0.0000;FS=2.137;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.52;ReadPosRankSum=-8.000e-02;SOR=1.024	GT:AD:DP:GQ:PL	0/1:34,35:69:99:1361,0,1300	20	0	1	0
chr1	154869726	154869726	-	GCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGC:p.Q80_P81insQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/2:0,3,43,0,0,0,0:46:24:2261,1529,1396,152,24,0,1985,1501,154,1890,1985,1501,154,1890,1890,1985,1501,154,1890,1890,1890,1985,1501,154,1890,1890,1890,1890	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746397332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/2:0,3,43,0,0,0,0:46:24:2261,1529,1396,152,24,0,1985,1501,154,1890,1985,1501,154,1890,1890,1985,1501,154,1890,1890,1890,1985,1501,154,1890,1890,1890,1890	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/2:0,3,43,0,0,0,0:46:24:2261,1529,1396,152,24,0,1985,1501,154,1890,1985,1501,154,1890,1890,1985,1501,154,1890,1890,1890,1985,1501,154,1890,1890,1890,1890	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGC:p.Q80_P81insQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/2:0,3,43,0,0,0,0:46:24:2261,1529,1396,152,24,0,1985,1501,154,1890,1985,1501,154,1890,1890,1985,1501,154,1890,1890,1890,1985,1501,154,1890,1890,1890,1890	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/2:0,3,43,0,0,0,0:46:24:2261,1529,1396,152,24,0,1985,1501,154,1890,1985,1501,154,1890,1890,1985,1501,154,1890,1890,1890,1985,1501,154,1890,1890,1890,1890	0	1	0	0
chr1	156815839	156815839	G	C	splicing	NTRK1	NM_001007792:exon1:c.9+1G>C	.	.	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	.	0.0001	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	N	.	.	.	.	.	.	.	.	.	0.675	7.612	1.31	0.316	-0.180	4.184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.214e-06	0.0002	1.09e-05	5.503e-06	2.988e-05	4.38e-06	3.46e-06	5.31e-06	3.88e-06	2.988e-05	0	0	0	0	0	9.899e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996889	0.22868	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.368844	0.03652	T	-0.767596	0.02848	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.462841	0.18854	13.96	0.7159568618309291	0.09682	0.05745	0.11673	N	AEFGBCI	.	.	.	-0.545425066812517	0.20627	1.088785	-0.702648580947352	0.16894	0.8958837	0.999991161713536	0.74766	0.125411	0.03135	0	0.10752	0.03338	0	0.127595	0.03524	0	0.057669	0.00882	0	0.11426	0.24032	4.23	1.31	0.20837	-0.173000	0.09844	0.057000	0.14080	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.102000	0.18378	0.2167:0.2117:0.5716:0.0	4.184	0.09851	721	0.55360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1192.72	73	chr1	156815839	.	G	C	1192.72	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-4.688e+00;DP=2417;ExcessHet=3.5521;FS=187.374;InbreedingCoeff=-0.2541;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=1.11;ReadPosRankSum=1.23;SOR=11.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:119,40:169:83:.:.:83,0,2364	12	0	8	1
chr1	158643343	158643343	C	T	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon31:c.G4421A:p.R1474Q,	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1686531	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.575	P	0.165	B	0.134	N	0.992	D	2.125	M	0.56	T	-0.970	T	0.097	T	0.347	3.488	17.84	4.32	1.452	5.416	12.687	0.198	0.0751559634797	.	.	6.64e-05	0	0.0002	0.0007	0	0	0	0	5.17e-05	8	154602	rs768582381	1.984e-05	1.984e-05	1.906e-05	2.063e-05	0.0003	1.392e-05	1.204e-05	6.105e-05	3.165e-05	0	6.716e-05	0	0.0001	0	0.0003	1.439e-05	3.313e-05	1.159e-05	1.973e-05	1.971e-05	3.856e-05	0	6.552e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	6.552e-05	0	0	0	0	2.941e-05	0	0	0.023	0.48186	D	0.053	0.47336	T	0.575	0.38708	P	0.165	0.35019	B	0.133932	0.18534	N	0.292977	0.991938	0.41512	D	2.61	0.76335	M	0.56	0.54540	T	-2.23	0.50012	N	0.424	0.46368	-0.9697	0.37262	T	0.097	0.36445	T	10	0.38039175	0.54149	T	0.075156	0.72218	D	0.198	0.48105	0.648	0.78542	0.729760035194	0.72735	0.3339383866842029	0.33306	0.0495021571329	0.05423	0.325248062611	0.14216	T	0.340016	0.70909	T	-0.279345	0.10737	T	-0.319026	0.42682	T	0.230231721218603	0.21962	T	0.768423	0.39759	T	0.18311456	0.39564	0.14187345	0.33771	0.18311456	0.39564	0.14187345	0.33771	-5.698	0.43676	T	0.6830194794183153	0.75965	0.088	0.11701	B	.;.	.;.	3.321473	0.45682	22.2	0.99891547995524443	0.96513	0.97503	0.75172	D	AEFBI	0.780037	0.71205	D	0.0804100134266155	0.45549	2.80961	0.0865320256324954	0.43868	2.679865	0.999997074734814	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.22	4.32	0.50899	5.677000	0.67810	0.113000	0.14809	0.599000	0.40250	1.000000	0.71638	0.001000	0.17328	0.698000	0.34080	0.0:0.9206:0.0:0.0794	12.687	0.56321	607	0.67291	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2401.98	39	chr1	158643343	.	C	T	2401.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.69;DP=928;ExcessHet=0.0000;FS=1.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=0.186;SOR=0.572	GT:AD:DP:GQ:PL	0/1:103,92:195:99:2416,0,2454	20	0	1	0
chr1	158678434	158678434	A	G	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon6:c.T779C:p.L260P,	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	27883	Elliptocytosis_2|not_provided	MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.024	N	1.000	A	3.42	M	-1.43	T	0.642	D	0.700	D	0.966	2.859	15.52	4.66	2.080	8.035	13.354	0.839	0.242826543064	.	.	2.488e-05	0.0003	0	0	0	0	0	0	1.94e-05	3	154602	rs121918634	6.842e-06	6.84e-06	5.446e-06	8.252e-06	0.0002	3.46e-06	2.52e-06	0.0001	8.684e-05	0.0002	0	0	0	0	0	0	3.313e-05	0	5.256e-05	5.253e-05	3.853e-05	6.725e-05	0.0002	2.557e-05	1.83e-05	9.563e-05	6.961e-05	0.0002	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	1.0	0.97372	D	0.024363	0.26274	N	0.000000	1	0.81001	A	3.555	0.93317	H	-1.43	0.80730	T	-6.32	0.90852	D	0.929	0.93370	0.642	0.92447	D	0.700	0.89672	D	9	0.9909502	0.99610	D	0.242827	0.88776	D	0.839	0.94952	0.908	0.98109	0.961458484432	0.96104	0.9090546975298317	0.90879	0.26085393997	0.28643	0.527930021286	0.42742	T	0.721158	0.92121	D	0.229597	0.76683	D	0.371459	0.91123	D	0.975009918212891	0.70747	D	0.565643	0.19997	T	0.9721399	0.98456	0.9374833	0.97601	0.9683769	0.98107	0.9529345	0.98574	-14.304	0.94003	D	0.769383698944818	0.85050	0.928	0.84870	P	.;.	.;.	3.496289	0.48898	22.7	0.99791721544089274	0.87750	0.95258	0.64026	D	AEFBCI	0.962700	0.98439	D	0.628944081631176	0.75013	6.231428	0.443688455940145	0.64311	4.684	0.99989123174347	0.45129	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.66	4.66	0.57857	8.481000	0.90279	11.256000	0.90911	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.167000	0.20881	1.0:0.0:0.0:0.0	13.354	0.60061	637	0.64373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	796.98	33	chr1	158678434	.	A	G	796.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.056;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.76;ReadPosRankSum=0.072;SOR=0.657	GT:AD:DP:GQ:PL	0/1:53,38:91:99:811,0,1259	20	0	1	0
chr1	160094907	160094907	C	T	exonic	IGSF8	.	nonsynonymous SNV	IGSF8:NM_001320247:exon2:c.G404A:p.R135H	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.914	P	0.413	B	0.289	N	0.978	N	1.32	L	3.47	T	-0.980	T	0.010	T	0.308	3.553	18.12	-1.29	-0.104	-0.605	6.247	0.054	0.014839502296	7.7e-05	0.000199681	0.0002	0	0	0	0	0.0002	0	0.0006	0.0001617	25	154602	rs200550632	0.0001	0.0001	0.0001	0.0002	0.0010	0.0001	0.0001	0.0005	0.0004	8.961e-05	4.472e-05	0	2.519e-05	0	0.0010	9.803e-05	0.0002	0.0006	7.894e-05	7.876e-05	0.0001	4.037e-05	0.0002	4.501e-05	3.516e-05	3.764e-05	2.576e-05	7.239e-05	0	6.551e-05	0	0	0	0.0034	8.826e-05	0	0.0002	0.029	0.48642	D	0.036	0.52060	D	0.914	0.50529	P	0.413	0.44885	B	0.289261	0.14799	N	0.619503	0.978279	0.25259	N	2.16	0.60381	M	3.47	0.10291	T	-2.89	0.61580	D	0.243	0.27435	-0.9802	0.34955	T	0.010	0.03582	T	10	0.0695855	0.10004	T	0.01484	0.35215	T	0.054	0.15330	.	.	0.209622950755	0.20551	0.27299928696337755	0.27212	0.17504778122	0.19705	0.219588875771	0.01286	T	0.258483	0.62964	T	-0.451286	0.01110	T	-0.549758	0.17350	T	0.207217581590296	0.20807	T	0.691931	0.30670	T	0.09813382	0.23142	0.07663439	0.16992	0.09813382	0.23142	0.07663439	0.16992	-5.711	0.43791	T	.	.	0.077	0.08033	B	.;.;.;.	.;.;.;.	1.950652	0.24774	16.52	0.99862121278883798	0.94093	0.15693	0.19036	N	AEFDBI	0.133961	0.25380	N	-0.269136141573587	0.30347	1.691248	-0.352715254382438	0.26424	1.459517	0.990305036735379	0.32108	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.655142	0.61905	0	.	.	4.89	-1.29	0.08805	-0.707000	0.05143	-2.063000	0.04269	-0.173000	0.11020	0.004000	0.16614	0.000000	0.08366	0.822000	0.38733	0.0:0.2743:0.1448:0.5809	6.247	0.20033	754	0.51307	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1300.98	37	chr1	160094907	.	C	T	1300.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.076e+00;DP=779;ExcessHet=0.0000;FS=2.049;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.13;ReadPosRankSum=-2.440e-01;SOR=0.488	GT:AD:DP:GQ:PL	0/1:37,49:86:99:1315,0,1008	20	0	1	0
chr1	160186343	160186343	C	T	exonic	ATP1A4	.	nonsynonymous SNV	ATP1A4:NM_001001734:exon4:c.C445T:p.L149F	.	.	418	1095	9	0	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.001	B	0.004	B	0.018	N	1.000	N	-0.15	N	-4.1	D	-0.374	T	0.401	T	0.062	1.982	12.58	-3.84	-0.535	0.087	6.978	0.227	.	0.0045	0.00778754	0.0021	0.0173	0.0015	0	0	0.0008	0.0045	0.0004	0.0021927	339	154602	rs114357990	0.0010	0.0010	0.0010	0.0010	0.0201	0.0009	0.0009	0.0188	0.0183	0.0201	0.0016	0.0067	0	0	0.0135	0.0002	0.0022	0.0004	0.0055	0.0055	0.0055	0.0054	0.0179	0.0052	0.0050	0.0168	0.0164	0.0179	0	0.0027	0.0060	0	0	0.0068	0.0002	0.0038	0.0004	0.416	0.09958	T	0.505	0.11004	T	0.001	0.07471	B	0.004	0.10090	B	0.017898	0.27612	N	0.317994	1	0.08975	N	0.075	0.08292	N	-4.1	0.96659	D	0.09	0.05917	N	0.199	0.24260	-0.3743	0.72830	T	0.401	0.75209	T	10	0.006792873	0.00154	T	.	.	.	0.227	0.52620	.	.	0.795181792715	0.79327	0.7139106149144214	0.71334	0.181752268557	0.20427	0.289408177137	0.08836	T	0.343357	0.71202	T	-0.414102	0.01867	T	-0.353325	0.38825	T	0.00236722522557901	0.00024	T	0.967103	0.88413	D	0.03802285	0.04986	0.051709294	0.08375	0.03802285	0.04986	0.051709294	0.08375	-4.125	0.25658	T	.	.	0.057	0.00806	B	.;.	.;.	-0.286163	0.02679	0.345	0.93657171018291085	0.23545	0.16134	0.19247	N	AEFDBI	0.075956	0.15269	N	-1.08198289900748	0.06975	0.3226638	-1.06589941659854	0.08378	0.4117222	0.0202234474717977	0.13237	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.95	-3.84	0.03976	0.201000	0.17074	-3.618000	0.02653	-0.188000	0.09543	0.327000	0.25564	0.000000	0.08366	0.191000	0.21631	0.0:0.4092:0.1159:0.4749	6.978	0.23868	363	0.84772	Cation-transporting P-type ATPase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1358.98	36	chr1	160186343	.	C	T	1358.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.012e+00;DP=839;ExcessHet=0.0000;FS=0.869;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.37;ReadPosRankSum=-1.700e+00;SOR=0.904	GT:AD:DP:GQ:PL	0/1:31,52:83:99:1373,0,800	20	0	1	0
chr1	160947939	160947939	T	C	exonic	ITLN2	.	nonsynonymous SNV	ITLN2:NM_080878:exon7:c.A815G:p.N272S,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.632	P	0.394	B	0.000	U	0.644	D	3.055	M	2.19	T	-1.000	T	0.060	T	0.212	2.804	15.34	4.4	1.726	5.586	11.855	0.148	0.00315166944981	.	0.000599042	0.0005	0	0	0	0	0	0	0.0039	0.0004334	67	154602	rs560960305	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0030	0.0029	0	0	0	0	0	0.0003	1.08e-05	0.0004	0.0033	6.567e-05	6.562e-05	5.14e-05	8.06e-05	0.0019	3.515e-05	2.615e-05	0.0010	0.0007	0	0	0	0	0	0	0	1.47e-05	0	0.0019	0.054	0.38633	T	0.078	0.42261	T	0.632	0.40232	P	0.271	0.39904	B	0.000079	0.52346	U	0.000000	0.644391	0.32905	D	3.51	0.92865	H	2.19	0.18724	T	-4.36	0.76980	D	0.43	0.46928	-0.9998	0.29973	T	0.060	0.25163	T	10	0.011669397	0.00254	T	0.003152	0.06876	T	0.148	0.39182	0.476	0.55342	0.266385636622	0.26244	0.26495099866577954	0.26408	0.352119681609	0.37051	0.708202242851	0.68333	T	0.148777	0.48748	T	-0.489732	0.00652	T	-0.476763	0.24791	T	0.291767872796815	0.24663	T	0.963754	0.86559	D	0.31491455	0.54208	0.16912967	0.38923	0.31491455	0.54208	0.16912967	0.38923	-5.482	0.41700	T	.	.	0.162	0.35849	B	.	.	2.848040	0.37596	20.5	0.99641765481040245	0.76695	0.94973	0.62978	D	AEFDBI	0.380717	0.46325	N	0.373545481109358	0.59991	4.183584	0.356216295056561	0.58882	4.061792	0.999989257257447	0.51787	0.632932	0.41330	0	0.59043	0.45803	0	0.601832	0.32385	0	0.663205	0.64265	0	.	.	4.4	4.4	0.52402	3.966000	0.56502	2.745000	0.34492	0.519000	0.23678	1.000000	0.71638	0.999000	0.35428	0.982000	0.59238	0.0:0.0:0.0:1.0	11.855	0.51708	628	0.65206	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1505.98	33	chr1	160947939	.	T	C	1505.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.24;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=0.739;SOR=0.664	GT:AD:DP:GQ:PL	0/1:83,63:146:99:1520,0,1956	20	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N	.	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.001	B	0.168	N	1.000	N	0.14	N	3.07	T	-0.940	T	0.010	T	0.017	-0.308	2.533	2.21	0.223	-1.239	2.806	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	5512.66	190	chr1	161048864	.	C	G	5512.66	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-5.721e+00;DP=4354;ExcessHet=20.9642;FS=217.040;InbreedingCoeff=-0.6084;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=1.61;ReadPosRankSum=1.77;SOR=13.867	GT:AD:DP:GQ:PL	0/1:183,46:239:99:197,0,3981	5	0	16	0
chr1	162374071	162374071	C	T	exonic	SPATA46	.	nonsynonymous SNV	SPATA46:NM_182581:exon3:c.G763A:p.G255S,	.	.	430	1065	27	0	0	27	0.0125174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.013	B	0.002	B	0.001	N	0.999	N	0	N	1.53	T	-1.034	T	0.018	T	0.055	-0.751	0.813	3.03	0.461	-0.105	7.747	0.062	.	0.0011	0.00399361	0.0047	9.829e-05	0.0014	0.0002	0.0003	0.0023	0.0082	0.0290	0.0039262	607	154602	rs142892903	0.0026	0.0026	0.0018	0.0034	0.0231	0.0026	0.0025	0.0222	0.0219	0.0001	0.0012	0.0186	2.523e-05	0.0001	0.0152	0.0009	0.0041	0.0231	0.0018	0.0018	0.0015	0.0020	0.0170	0.0016	0.0015	0.0140	0.0129	0.0002	0	0.0017	0.0196	0	0	0.0170	0.0011	0.0038	0.0170	0.0	0.91255	D	0.829	0.03728	T	0.013	0.16609	B	0.002	0.06944	B	0.000687	0.00666	N	22.652400	1	0.08975	N	.	.	.	1.53	0.30401	T	0.53	0.02808	N	0.077	0.05162	-1.0336	0.19300	T	0.018	0.07518	T	9	0.0026496649	0.00041	T	.	.	.	0.062	0.17934	.	.	0.0806252709748	0.07271	0.10077974902179522	0.10008	0.0254765122315	0.02602	.	.	.	0.00414	0.03552	T	-0.682564	0.00046	T	-0.734979	0.04105	T	0.0328674922105393	0.02448	T	0.330567	0.06924	T	0.06320382	0.13284	0.099307574	0.23706	0.06320382	0.13284	0.099307574	0.23705	-2.764	0.07856	T	.	.	0.078	0.06803	B	.	.	0.163990	0.05541	2.000	0.44099521468355862	0.03366	0.02574	0.07120	N	ALL	0.112465	0.22229	N	-1.13096102416399	0.06099	0.2798527	-1.09724414263715	0.07754	0.3784419	1.0	0.98316	0.486886	0.10167	0	0.586423	0.34054	0	0.315538	0.05692	2	0.562822	0.20929	0	.	.	4.95	3.03	0.34070	0.087000	0.14801	-0.034000	0.12756	-0.479000	0.05073	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7476:0.1629:0.0895	7.747	0.28043	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	767.98	49	chr1	162374071	.	C	T	767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.17;DP=888;ExcessHet=0.0000;FS=11.165;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.08;ReadPosRankSum=-1.253e+00;SOR=1.668	GT:AD:DP:GQ:PL	0/1:66,29:95:99:782,0,1756	20	0	1	0
chr1	165743215	165743215	G	C	exonic	TMCO1	.	nonsynonymous SNV	TMCO1:NM_001256164:exon6:c.C471G:p.D157E	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.36	B	0.433	B	0.000	D	1.000	D	1.135	L	.	.	-0.981	T	0.105	T	0.858	4.070	20.9	4.33	0.955	5.327	11.107	0.283	0.00561825470216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.32355	T	0.36	0.33860	B	0.366	0.43381	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.23	0.30720	L	.	.	.	.	.	.	0.873	0.94550	-0.9809	0.34794	T	0.105	0.38513	T	8	0.7058418	0.72732	D	0.005618	0.14530	T	0.283	0.60100	0.787	0.90993	0.162503812791	0.15892	0.8982099665768731	0.89791	0.898319418033	0.70545	0.813728034496	0.84064	D	0.273669	0.64613	T	0.317	0.84250	D	0.217429	0.84044	D	0.938554227352142	0.60927	D	0.90061	0.74830	D	0.30915323	0.53713	0.28407496	0.54403	0.30915323	0.53713	0.28407496	0.54403	.	.	.	.	.	0.877	0.81325	P	.;.;.;.;.;.	.;.;.;.;.;.	3.073706	0.41320	21.3	0.99659428855862664	0.77820	0.98300	0.81404	D	AEFGBI	0.671349	0.63812	D	-0.0328772314455231	0.40371	2.396296	0.0994292813719545	0.44519	2.732209	0.972625305894158	0.29387	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	6.17	4.33	0.51083	5.433000	0.66269	5.507000	0.48788	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1486:0.0:0.8514:0.0	11.107	0.47427	893	0.26510	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	218.51	112	chr1	165743215	.	G	C	218.51	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-3.149e+00;DP=1772;ExcessHet=1.7912;FS=225.654;InbreedingCoeff=-0.2159;MLEAC=6;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=0.715;SOR=11.634	GT:AD:DP:GQ:PL	0/1:72,24:96:12:12,0,1231	12	0	6	3
chr1	169543100	169543100	T	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon13:c.A1990G:p.T664A,	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.134	B	0.037	B	0.000	D	0.993	N	0.525	N	-6.53	D	0.619	D	0.851	D	0.172	0.816	8.282	4.83	1.058	3.319	3.632	0.458	0.307759462112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.412	0.10345	T	0.887	0.03161	T	0.134	0.27266	B	0.037	0.23121	B	0.000001	0.84330	D	0.056447	0.99511	0.23368	N	0.585	0.15399	N	-6.53	0.99718	D	-2.07	0.47344	N	0.066	0.03841	0.619	0.92143	D	0.851	0.95035	D	9	0.23049387	0.40002	T	0.307759	0.91088	D	0.458	0.75619	0.361	0.36548	0.795806671898	0.79390	0.5346686894296542	0.53391	0.454053783724	0.45095	0.441018134356	0.30716	T	0.047561	0.27759	T	0.0550242	0.58987	T	-0.158738	0.58465	T	0.641807854175568	0.38114	D	0.630137	0.24490	T	0.20635138	0.42806	0.17928055	0.40652	0.20635138	0.42806	0.17928055	0.40651	-4.938	0.36159	T	0.3944293350077439	0.48716	0.133	0.30211	B	.;.	.;.	3.106499	0.41883	21.4	0.91896358026124669	0.21216	0.62948	0.31937	D	AEFBI	0.114786	0.22596	N	-0.337745020614023	0.27725	1.523471	-0.157157798761181	0.33134	1.892204	0.00297471674067849	0.09841	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.98	4.83	0.61880	3.535000	0.53331	2.828000	0.35004	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.2913:0.1341:0.0:0.5746	3.632	0.07675	772	0.48957	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	940.98	37	chr1	169543100	.	T	C	940.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.402;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.68;ReadPosRankSum=-1.360e-01;SOR=0.601	GT:AD:DP:GQ:PL	0/1:24,36:60:99:955,0,558	20	0	1	0
chr1	169855940	169855940	C	T	exonic	SCYL3	.	nonsynonymous SNV	SCYL3:NM_181093:exon12:c.G1330A:p.V444I,	.	.	430	1069	23	0	0	23	0.0106432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.002	B	0.001	B	0.181	N	1.000	N	1.245	L	2.01	T	-1.003	T	0.013	T	0.014	-0.203	3.015	-0.504	-0.077	-1.026	2.905	0.007	0.00184080076979	0.0012	0.000998403	0.0012	0.0004	0.0018	0.0005	0	0.0013	0.0033	0.0015	0.001119	173	154602	rs140724273	0.0010	0.0010	0.0009	0.0011	0.0331	0.0010	0.0009	0.0293	0.0278	0.0007	0.0019	0.0047	0.0004	0	0.0331	0.0007	0.0020	0.0015	0.0011	0.0011	0.0010	0.0013	0.0037	0.0010	0.0009	0.0030	0.0027	0.0002	0	0.0037	0.0058	0	0	0.0408	0.0009	0.0024	0.0012	0.308	0.14111	T	0.735	0.05072	T	0.002	0.09854	B	0.001	0.04355	B	0.181091	0.03182	N	1.738610	1	0.08975	N	0.6	0.15550	N	2.01	0.21291	T	-0.22	0.10480	N	0.058	0.03175	-1.0030	0.29050	T	0.013	0.04938	T	10	0.0062609315	0.00141	T	0.001841	0.03193	T	0.007	0.00512	.	.	0.082315109003	0.07666	0.17223653139811007	0.17143	0.160143282942	0.18067	0.243769258261	0.03139	T	0.002075	0.01480	T	-0.726199	0.00025	T	-0.834926	0.01178	T	0.000307838108169289	0.00002	T	0.526647	0.17353	T	0.030046906	0.02601	0.024858981	0.00513	0.030046906	0.02601	0.024858981	0.00513	-3.436	0.15545	T	.	.	0.068	0.03026	B	.;.	.;.	0.865839	0.12382	8.921	0.84427287575378418	0.15285	0.01388	0.04719	N	AEFBI	0.029786	0.02875	N	-1.23491532840644	0.04503	0.2033349	-1.28465771817894	0.04637	0.2191971	0.652535881401227	0.22180	0.660377	0.49826	0	0.615513	0.52658	0	0.696353	0.63694	0	0.528226	0.09195	0	.	.	3.95	-0.504	0.11398	-1.019000	0.03733	-2.487000	0.03694	-0.278000	0.06506	0.000000	0.06391	0.000000	0.08366	0.478000	0.28520	0.1973:0.408:0.0:0.3947	2.905	0.05367	492	0.76569	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1163.98	37	chr1	169855940	.	C	T	1163.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.137e+00;DP=775;ExcessHet=0.0000;FS=2.045;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.32;ReadPosRankSum=0.174;SOR=0.448	GT:AD:DP:GQ:PL	0/1:27,49:76:99:1178,0,559	20	0	1	0
chr1	171014124	171014124	A	G	exonic	MROH9	.	nonsynonymous SNV	MROH9:NM_001163629:exon16:c.A1604G:p.N535S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.782	P	0.223	B	.	.	1.000	N	0.46	N	-0.12	T	-1.144	T	0.050	T	0.034	2.075	12.90	4.62	2.188	2.680	7.681	0.122	0.0199247147876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.153e-07	2.052e-06	0	1.45e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	0.17701	T	0.212	0.26549	T	.	.	.	.	.	.	.	.	.	.	0.995552	0.23261	N	.	.	.	-0.12	0.64630	T	-1.73	0.41046	N	0.165	0.17416	-1.1441	0.01212	T	0.050	0.21222	T	9	0.23847875	0.40970	T	0.019925	0.42414	T	0.122	0.33800	0.353	0.35246	0.754112680692	0.75189	0.11310028042508319	0.11238	0.175275092821	0.19731	0.543920516968	0.44999	T	.	.	.	-0.241217	0.15194	T	-0.584268	0.14166	T	0.610220324395081	0.36809	D	0.634137	0.24845	T	.	.	.	.	.	.	.	.	-3.147	0.11843	T	.	.	0.112	0.22024	B	.	.	2.062943	0.26232	17.04	0.99319194411595824	0.59317	0.74227	0.36309	D	AEFGI	0.289672	0.40125	N	0.0136313926209575	0.42475	2.559888	0.143934554698299	0.46820	2.921949	0.00254346581181869	0.09519	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.74	4.62	0.56946	2.800000	0.47595	5.283000	0.48186	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.9077:0.0:0.0923:0.0	7.681	0.27682	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1063.98	35	chr1	171014124	.	A	G	1063.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.320e-01;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=-1.417e+00;SOR=0.684	GT:AD:DP:GQ:PL	0/1:35,44:79:99:1078,0,852	20	0	1	0
chr1	172589284	172589284	C	G	exonic	SUCO	.	nonsynonymous SNV	SUCO:NM_001282751:exon16:c.C494G:p.T165S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.087	B	0.03	B	0.000	D	1.000	D	1.825	L	.	.	-0.897	T	0.150	T	0.308	2.794	15.30	5.39	2.517	2.836	17.705	0.049	0.00309354572859	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169757940	3.421e-06	3.42e-06	1.362e-06	5.502e-06	0.0007	1e-06	7.3e-07	0.0002	0.0001	0	0	0	0	0	0.0007	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	0.362	0.32675	T	0.028	0.19712	B	0.021	0.19346	B	0.000205	0.47681	D	0.212749	0.999995	0.58761	D	2.595	0.75868	M	.	.	.	-1.06	0.27669	N	0.174	0.18784	-0.8973	0.48264	T	0.150	0.47787	T	9	0.10396212	0.19141	T	0.003094	0.06696	T	0.049	0.13647	.	.	0.215869574891	0.21205	0.200472564064436	0.19964	0.1463930963	0.16524	0.377857744694	0.21952	T	0.202687	0.56093	T	-0.0956576	0.37142	T	-0.274552	0.47359	T	0.358395308256149	0.27347	T	0.677732	0.28664	T	0.076841146	0.17404	0.07832228	0.17532	0.076841146	0.17403	0.07832228	0.17532	-2.494	0.06649	T	.	.	0.128	0.27373	B	.;.;.;.	.;.;.;.	2.020220	0.25669	16.85	0.99098328994493301	0.52396	0.86134	0.45358	D	ALL	0.462452	0.51179	N	0.0717457059724461	0.45148	2.776259	0.228670724764287	0.51444	3.326884	0.999999999999126	0.74766	0.730579	0.87903	0	0.698795	0.70079	0	0.724815	0.87919	0	0.648885	0.59868	0	.	.	5.39	5.39	0.77615	2.897000	0.48363	1.450000	0.26598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.705	0.88213	487	0.76954	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2605.98	34	chr1	172589284	.	C	G	2605.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.180e-01;DP=939;ExcessHet=0.0000;FS=3.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=-1.211e+00;SOR=0.550	GT:AD:DP:GQ:PL	0/1:112,104:216:99:2620,0,2883	20	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	21772.6	79	chr1	175160810	.	C	T,*	21772.6	.	AC=20,9;AF=0.476,0.214;AN=42;BaseQRankSum=0.238;DP=1529;ExcessHet=1.3217;FS=0.603;InbreedingCoeff=-0.0027;MLEAC=20,9;MLEAF=0.476,0.214;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=1.92;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,46,0:75:99:1|0:175160788_C_CCTT:1306,0,1012,1393,1150,2543:175160788	2	5	6	0
chr1	177939725	177939725	G	A	exonic	CRYZL2P-SEC16B;SEC16B	.	nonsynonymous SNV	SEC16B:NM_001356500:exon17:c.C1157T:p.S386L	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.047	B	0.004	B	0.154	N	1.000	N	0.895	L	2.4	T	-1.026	T	0.009	T	0.03	0.473	6.566	-4.96	-0.840	-0.358	2.779	0.047	.	0.0008	0.00359425	0.0007	0.0061	0.0008	0	0	0.0001	0	0	0.0004592	71	154602	rs12074076	0.0003	0.0003	0.0003	0.0002	0.0065	0.0002	0.0002	0.0058	0.0055	0.0065	0.0006	0	0	0	0.0021	5.532e-05	0.0007	0.0001	0.0016	0.0016	0.0015	0.0016	0.0049	0.0014	0.0013	0.0044	0.0041	0.0049	0	0.0014	0	0	0	0	7.351e-05	0.0033	0.0002	0.173	0.22573	T	0.497	0.11299	T	0.003	0.11197	B	0.001	0.04355	B	0.153702	0.02983	N	1.657110	1	0.08975	N	1.295	0.32453	L	2.4	0.15608	T	-1.29	0.32387	N	0.063	0.03502	-1.0258	0.21821	T	0.009	0.03271	T	10	0.0039038062	0.00074	T	.	.	.	0.047	0.12962	.	.	0.167679373172	0.16340	0.14825459161405144	0.14747	0.0361349943124	0.03815	0.272900462151	0.06523	T	0.007829	0.07211	T	-0.740504	0.00020	T	-0.836055	0.01160	T	0.00180212191713534	0.00018	T	0.488951	0.15001	T	0.03250671	0.03290	0.044676922	0.05841	0.03250671	0.03290	0.044676922	0.05841	-4.376	0.29230	T	.	.	0.065	0.01859	B	.	.	0.221157	0.06035	2.477	0.71654630811542386	0.09703	0.01237	0.04368	N	AEFBI	0.136291	0.25691	N	-1.16447069612799	0.05545	0.2530986	-1.25518267453229	0.05054	0.2399495	0.757080638561288	0.23451	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.07	-4.96	0.02812	-0.292000	0.08368	-0.467000	0.09002	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.53:0.1263:0.2079:0.1358	2.779	0.05027	843	0.36859	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	507.98	33	chr1	177939725	.	G	A	507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.70;ReadPosRankSum=-2.490e-01;SOR=0.807	GT:AD:DP:GQ:PL	0/1:43,23:66:99:522,0,1020	20	0	1	0
chr1	179903964	179903964	A	C	splicing	TOR1AIP1	NM_001267578:exon6:c.743-2A>C;NM_015602:exon6:c.740-2A>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.879	D	.	.	.	.	.	.	.	.	.	0.905	8.680	3.14	1.963	2.159	6.691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.878549	0.35703	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.256537	0.13309	T	-0.606274	0.12289	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	4.233948	0.64133	24.7	0.80054460604190703	0.13023	0.68779	0.33932	D	AEFBI	.	.	.	0.627468078035172	0.74919	6.21507	0.341725435525886	0.58011	3.969298	0.389250930296501	0.20031	0.295142	0.05270	0	0.30413	0.05452	0	0.060301	0.00762	0	0.089874	0.02613	0	0.187005	0.29800	4.36	3.14	0.35196	2.145000	0.41830	4.074000	0.41688	0.756000	0.94297	0.987000	0.36337	0.918000	0.28264	0.821000	0.38685	0.7895:0.0:0.0:0.2105	6.691	0.22360	418	0.81602	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	528.34	34	chr1	179903964	.	A	C	528.34	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.394e+00;DP=1049;ExcessHet=1.7912;FS=123.470;InbreedingCoeff=-0.1775;MLEAC=6;MLEAF=0.150;MQ=59.88;MQRankSum=0.00;QD=1.26;ReadPosRankSum=1.52;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,18:73:7:0|1:179903957_A_C:7,0,1481:179903957	14	0	6	1
chr1	180014239	180014239	G	C	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon10:c.G1786C:p.V596L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.991	D	0.000	D	1.000	D	2.24	M	-2.57	D	0.672	D	0.818	D	0.871	5.044	29.9	5.6	2.788	9.092	19.577	0.565	0.138735317183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.131	0.34596	T	0.997	0.70673	D	0.933	0.66815	D	0.000494	0.43931	D	0.000000	1	0.81001	D	2.515	0.73286	M	-2.57	0.89692	D	-1.93	0.44852	N	0.804	0.79986	0.672	0.92822	D	0.818	0.93855	D	9	0.7784072	0.77650	D	0.138735	0.82122	D	0.565	0.82232	0.251	0.18912	0.933423527662	0.93273	0.2305698346646848	0.22971	0.406491481352	0.41524	0.817128300667	0.84587	D	0.124088	0.44888	T	0.411747	0.90578	D	0.353669	0.90461	D	0.993486225605011	0.84301	D	0.907609	0.67324	D	0.52510554	0.68551	0.5940318	0.76435	0.52510554	0.68552	0.5940318	0.76436	-8.814	0.66492	D	.	.	0.957	0.87648	P	.	.	4.238175	0.64232	24.7	0.99861407413495462	0.94002	0.99292	0.94053	D	AEFGBI	0.815095	0.73715	D	0.861085333927434	0.89729	10.09338	0.856523218067628	0.93392	12.01194	0.999999999986871	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	9.516000	0.97042	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.577	0.95445	185	0.92771	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	351.91	104	chr1	180014239	.	G	C	351.91	.	AC=5;AF=0.179;AN=28;BaseQRankSum=-3.051e+00;DP=1895;ExcessHet=1.1607;FS=246.725;InbreedingCoeff=-0.2543;MLEAC=7;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=0.66;ReadPosRankSum=0.125;SOR=11.993	GT:AD:DP:GQ:PL	0/1:68,31:99:91:91,0,1289	9	0	5	7
chr1	196994163	196994163	A	C	exonic	CFHR5	.	nonsynonymous SNV	CFHR5:NM_030787:exon4:c.A514C:p.K172Q,	Nephropathy due to CFHR5 deficiency, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.544	P	0.461	P	.	.	1.000	N	1.045	L	-0.16	T	-0.924	T	0.156	T	0.091	1.229	9.983	-2.35	-0.335	-0.234	6.32	0.148	0.0294204703868	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372940881	2.737e-06	2.736e-06	5.447e-06	0	0.0005	6.4e-07	4.3e-07	0.0001	7.557e-05	0	0	0	0	0	0.0005	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.23095	T	0.176	0.29843	T	0.544	0.37968	P	0.461	0.46460	P	.	.	.	.	1	0.08975	N	1.225	0.30651	L	-0.16	0.65378	T	-2.17	0.49018	N	0.156	0.16168	-0.9240	0.44999	T	0.156	0.48738	T	9	0.22522396	0.39347	T	0.02942	0.51930	D	0.148	0.39182	0.619	0.75347	0.575246599268	0.57192	0.3101897282239527	0.30931	0.0171167164253	0.01654	0.339355170727	0.16342	T	0.007847	0.07229	T	-0.227788	0.16943	T	-0.564978	0.15912	T	0.130843167558003	0.15460	T	0.622538	0.23960	T	0.08998769	0.21043	0.08713962	0.20234	0.08998769	0.21043	0.08713962	0.20234	-7.619	0.58443	D	0.20663825124974744	0.27599	0.117	0.23605	B	.	.	0.905543	0.12797	9.313	0.93912788512203904	0.23949	0.02529	0.07038	N	AEFIJ	0.072821	0.14545	N	-0.794305285712096	0.13458	0.6630912	-0.902107573547979	0.12044	0.6172991	2.2055023166973E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.98	-2.35	0.06302	-0.048000	0.11898	0.025000	0.13648	0.573000	0.29008	0.181000	0.24076	0.116000	0.22850	0.070000	0.16646	0.3023:0.5373:0.0:0.1604	6.32	0.20419	256	0.89942	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	796.98	34	chr1	196994163	.	A	C	796.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.794e+00;DP=769;ExcessHet=0.0000;FS=1.848;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=0.876;SOR=0.452	GT:AD:DP:GQ:PL	0/1:41,39:80:99:811,0,989	20	0	1	0
chr1	201209798	201209798	-	GCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4905_4906insGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA:p.G1647_I1648insMGSGSKASFRDGLGGSGEMGSVNEAGYRKDLGAPKG,	.	.	682	662	104	2	72	180	0.075419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0	0	0	0	0.0021	0	0	.	.	.	.	0.0018	0.0016	0.0018	0.0018	0.0119	0.0017	0.0016	0.0084	0.0073	0.0119	0.0021	0.0016	0.0109	0.0043	0	0.0013	0.0023	0.0021	0.0006	0.0094	0.0010	0.0002	0.0037	0.0003	0.0002	0.0001	7.467e-05	0.0004	0	0.0007	0	0.0037	0.0015	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	21447.27	257	chr1	201209798	.	G	GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA	21447.27	.	AC=8;AF=0.667;AN=12;BaseQRankSum=-9.710e-01;DP=6247;ExcessHet=0.0045;FS=0.524;InbreedingCoeff=0.2535;MLEAC=17;MLEAF=1.00;MQ=53.84;MQRankSum=-7.397e+00;QD=23.83;ReadPosRankSum=-9.608e+00;SOR=0.772	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,45:153:99:0|1:201209798_G_GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA:834,0,4280:201209798	1	3	2	15
chr1	201209836	201209836	-	GGGTTC	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4943_4944insGGGTTC:p.I1648delinsMGS,	.	.	422	1070	28	0	2	30	0.0129151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0003	0	0	3.84e-05	1	26028	rs764283275	9.788e-06	0.0002	1.337e-05	6.108e-06	5.809e-05	5.46e-06	4.21e-06	9.62e-06	3.6e-06	0	0	0	5.809e-05	0	0	9.653e-06	1.805e-05	0	6.799e-06	0.0002	1.327e-05	0	.	0	0	.	.	0	0	0	0	0	9.775e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	8560.35	257	chr1	201209836	.	T	TGGGTTC	8560.35	.	AC=4;AF=0.100;AN=40;BaseQRankSum=2.74;DP=6643;ExcessHet=0.7148;FS=1.833;InbreedingCoeff=0.0162;MLEAC=4;MLEAF=0.100;MQ=52.22;MQRankSum=-7.702e+00;QD=5.90;ReadPosRankSum=-4.416e+00;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:283,133:416:99:1|0:201209798_G_GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA:2182,0,8351:201209798	16	0	4	1
chr1	201209837	201209837	-	GGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4944_4945insGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG:p.S1650_G1651insKASFRDGLGGSGEMGSVNEAGYRKDLGAPKGMGS,	.	.	516	555	409	0	42	451	0.269256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0008	0	0	.	.	.	.	1.544e-05	0.0005	2.273e-05	7.867e-06	0.0002	7.64e-06	4.8e-06	6.16e-06	3.39e-06	0	0	0	0.0002	0	0	1.436e-05	5.053e-05	0	5.356e-05	0.0009	5.097e-05	5.641e-05	5.625e-05	8.87e-06	3.32e-06	.	.	0	0	0	0	0	0.0004	0	5.625e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14067.83	177	chr1	201209837	.	A	G,AGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG	14067.83	.	AC=3,4;AF=0.214,0.286;AN=14;BaseQRankSum=1.99;DP=7537;ExcessHet=3.1160;FS=2.726;InbreedingCoeff=-0.4173;MLEAC=5,7;MLEAF=0.357,0.500;MQ=52.14;MQRankSum=-6.885e+00;QD=7.29;ReadPosRankSum=-1.433e+01;SOR=0.720	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:283,0,133:416:99:1|0:201209798_G_GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA:2180,3005,11750,0,8745,8353:201209798	0	0	3	14
chr1	203229627	203229627	A	T	exonic	CHIT1	.	nonsynonymous SNV	CHIT1:NM_001256125:exon1:c.T10A:p.S4T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.062	B	0.062	B	0.315	N	1.000	N	0.715	N	3.51	T	-0.946	T	0.014	T	0.179	-0.447	1.925	0.212	0.317	-0.001	2.676	0.008	0.00198599384781	7.7e-05	.	8.502e-06	0	8.861e-05	0	0	0	0	0	6.5e-06	1	154602	rs145118297	5.473e-06	5.472e-06	6.806e-06	4.125e-06	6.708e-05	2.35e-06	1.7e-06	1.779e-05	8.93e-06	0	6.708e-05	7.653e-05	0	0	0	1.799e-06	1.656e-05	0	1.974e-05	1.971e-05	1.286e-05	2.695e-05	6.556e-05	5.25e-06	2.46e-06	8.01e-06	3e-06	4.835e-05	0	6.556e-05	0	0	0	0	0	0	0	0.125	0.45039	T	0.362	0.16865	T	0.019	0.17989	B	0.002	0.06944	B	0.315493	0.04041	N	1.609480	1	0.08975	N	1.24	0.30952	L	3.51	0.05847	T	-0.47	0.15178	N	0.184	0.19995	-0.9460	0.41648	T	0.014	0.05417	T	10	0.105682075	0.19546	T	0.001986	0.03562	T	0.008	0.00669	.	.	0.252681307341	0.24864	0.3557633417982046	0.35490	0.0842505692678	0.09510	0.410255253315	0.26491	T	0.208292	0.56818	T	-0.352297	0.04583	T	-0.660961	0.08201	T	0.0268602497841166	0.01525	T	0.343166	0.07474	T	0.036112312	0.04381	0.040909223	0.04529	0.036112312	0.04381	0.040909223	0.04529	-3.697	0.19481	T	.	.	0.075	0.06617	B	.;.	.;.	-0.152982	0.03340	0.587	0.31704998997086975	0.01800	0.02249	0.06516	N	AEFDBI	0.033364	0.03942	N	-1.02367635526443	0.08114	0.3793379	-1.08835883395043	0.07928	0.3876804	0.986803919430407	0.31129	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.25	0.212	0.14516	-0.004000	0.12813	0.938000	0.22831	-0.093000	0.16093	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	0.532:0.2639:0.204:0.0	2.676	0.04765	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2302.98	33	chr1	203229627	.	A	T	2302.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.600e-02;DP=928;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=-1.295e+00;SOR=0.719	GT:AD:DP:GQ:PL	0/1:112,97:209:99:2317,0,2789	20	0	1	0
chr1	203710948	203710948	G	A	exonic	ATP2B4	.	nonsynonymous SNV	ATP2B4:NM_001001396:exon12:c.G1871A:p.R624H	.	.	.	.	.	.	.	.	.	.	.	2719525	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.043	B	0.018	B	0.081	N	0.969	D	0.195	N	-3.89	D	-0.067	T	0.635	D	0.181	2.242	13.45	3.46	0.735	1.345	6.969	0.192	0.0769708542405	.	.	4.131e-05	0	0	0.0002	0	3.002e-05	0	6.081e-05	3.88e-05	6	154602	rs754998537	2.873e-05	2.873e-05	2.314e-05	3.438e-05	0.0003	2.151e-05	1.908e-05	6.092e-05	2.521e-05	0	0	0	5.039e-05	0	0.0003	2.968e-05	4.968e-05	2.319e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.144	0.25255	T	0.148	0.33442	T	0.043	0.21573	B	0.017	0.18140	B	0.080851	0.20900	N	0.418622	0.968684	0.38677	D	0.825	0.20901	L	-3.89	0.95984	D	-2.73	0.58085	D	0.324	0.36464	-0.0672	0.80841	T	0.635	0.87215	D	10	0.11718908	0.22126	T	0.076971	0.72659	D	0.192	0.47115	0.406	0.43902	0.561549812431	0.55816	0.39269514926052435	0.39184	0.54344270268	0.51422	0.309565871954	0.11842	T	.	.	.	-0.112806	0.34305	T	-0.174113	0.57067	T	0.193137779831886	0.20028	T	0.861914	0.55630	D	.	.	.	.	.	.	.	.	-7.944	0.60687	D	.	.	0.089	0.16275	B	.;.;.	.;.;.	1.839390	0.23369	15.99	0.9948578066955106	0.67124	0.31569	0.24370	N	AEFBI	0.067691	0.13319	N	-0.614182626627507	0.18518	0.9620239	-0.512822111473284	0.21804	1.181301	0.972610177901701	0.29386	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.33	3.46	0.38718	1.053000	0.30052	-0.942000	0.06844	0.665000	0.62972	0.020000	0.19661	0.000000	0.08366	0.985000	0.61073	0.384:0.0:0.616:0.0	6.969	0.23816	590	0.68897	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2417.98	38	chr1	203710948	.	G	A	2417.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=1003;ExcessHet=0.0000;FS=1.584;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.16;ReadPosRankSum=2.45;SOR=0.578	GT:AD:DP:GQ:PL	0/1:133,105:238:99:2432,0,2995	20	0	1	0
chr1	210418270	210418270	G	T	exonic	HHAT	.	nonsynonymous SNV	HHAT:NM_001170564:exon5:c.G390T:p.M130I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.018	B	0.016	B	0.000	D	1.000	D	0.805	L	-0.59	T	-0.854	T	0.198	T	0.333	0.135	4.728	5.1	2.371	2.087	11.574	0.166	0.0231787025383	.	.	8.339e-06	0	0	0	0	0	0	6.467e-05	6.5e-06	1	154602	rs767706148	2.601e-05	2.599e-05	2.179e-05	3.027e-05	0.0043	1.933e-05	1.693e-05	0.0030	0.0026	0	0	0	0	0	0.0043	7.196e-06	6.628e-05	1.162e-05	1.314e-05	1.312e-05	0	2.688e-05	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0068	0	0	0	0.632	0.06824	T	0.235	0.24767	T	0.018	0.17786	B	0.016	0.17743	B	0.000007	0.62929	D	0.168937	0.994279	0.42222	D	0.695	0.17993	N	-0.59	0.71543	T	-0.14	0.09135	N	0.14	0.22998	-0.8539	0.51696	T	0.198	0.55286	T	10	0.16517398	0.30881	T	0.023179	0.46126	T	0.166	0.42578	0.483	0.56462	0.648984209542	0.64607	0.6179684237340695	0.61729	0.123474915224	0.13901	0.322386682034	0.13782	T	0.143052	0.47896	T	-0.134718	0.30735	T	-0.330659	0.41395	T	0.189078173136445	0.19791	T	0.835616	0.52437	T	0.14326644	0.32935	0.11282552	0.27224	0.14326644	0.32934	0.11282552	0.27224	-7.528	0.57808	D	.	.	0.312	0.53921	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.791814	0.22780	15.76	0.78062643411778099	0.12139	0.76277	0.37398	D	AEFBI	0.288820	0.40062	N	-0.313568165145005	0.28633	1.580869	-0.16078290716029	0.32994	1.882831	0.999978429730218	0.50053	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.1	5.1	0.68917	2.446000	0.44566	8.390000	0.77084	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.263000	0.23594	0.0865:0.0:0.9135:0.0	11.574	0.50109	668	0.61153	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1238.98	33	chr1	210418270	.	G	T	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.600e-01;DP=825;ExcessHet=0.0000;FS=1.479;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.32;ReadPosRankSum=0.656;SOR=0.891	GT:AD:DP:GQ:PL	0/1:69,51:120:99:1253,0,1827	20	0	1	0
chr1	212100361	212100361	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C558G:p.D186E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	1.0	D	0.996	D	0.000	D	0.989	D	1.795	L	-0.53	T	-0.381	T	0.393	T	0.433	3.843	19.52	3.55	0.781	1.239	11.901	0.311	0.0329555447533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.37e-05	0.0014	5.667e-05	3.064e-05	5.487e-05	3.491e-05	3.173e-05	4.337e-05	3.902e-05	3.026e-05	0	3.843e-05	0	0	0	5.487e-05	1.673e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.171	0.31936	T	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.058592	0.989147	0.40895	D	2.25	0.63811	M	-0.6	0.71662	T	-0.8	0.22294	N	0.349	0.39052	-0.3807	0.72629	T	0.393	0.74685	T	10	0.3230481	0.49647	T	0.032956	0.54641	D	0.311	0.63269	0.299	0.26522	0.740948349148	0.73862	0.17433452095652613	0.17352	0.336806597811	0.35678	0.457547277212	0.32974	T	0.149432	0.48844	T	0.025508	0.55121	T	-0.201136	0.54540	T	0.753782212734222	0.43497	D	0.759324	0.38363	T	0.3453272	0.56701	0.20157085	0.44143	0.3453272	0.56701	0.20157085	0.44142	-3.559	0.17267	T	.	.	0.298	0.52841	B	.;.	.;.	3.620151	0.51223	23.1	0.99649687588057234	0.77192	0.89840	0.50569	D	AEFGBI	0.335728	0.43407	N	0.202993589347586	0.51343	3.316385	0.188628048828177	0.49223	3.128123	0.997589750058845	0.35786	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	3.55	0.39770	1.268000	0.32665	1.684000	0.28029	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8588:0.0:0.1412	11.901	0.51966	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2105	1408.15	87	chr1	212100361	.	C	G	1408.15	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.253e+00;DP=2254;ExcessHet=3.5521;FS=100.771;InbreedingCoeff=-0.2600;MLEAC=8;MLEAF=0.211;MQ=60.00;MQRankSum=0.00;QD=1.54;ReadPosRankSum=1.61;SOR=10.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:113,34:147:99:.:.:275,0,2658	11	0	8	2
chr1	220074013	220074013	G	A	exonic	BPNT1	.	nonsynonymous SNV	BPNT1:NM_001286149:exon2:c.C14T:p.S5F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.954	D	0.000	D	1.000	D	1.975	M	0.6	T	-0.423	T	0.324	T	0.434	5.220	33	5.46	2.579	8.461	18.965	0.232	0.0154197554854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.78490	D	0.011	0.66756	D	0.976	0.73220	D	0.656	0.69447	P	0.000211	0.47681	D	0.219548	0.999952	0.52396	D	1.88	0.49984	L	0.6	0.53731	T	-2.97	0.67477	D	0.277	0.45142	-0.4230	0.71293	T	0.324	0.69229	T	10	0.43486527	0.57728	T	0.01542	0.36141	T	0.232	0.53354	0.559	0.67821	0.389750110748	0.38591	0.5169334974436691	0.51616	1.08208159744	0.77162	0.426841616631	0.28777	T	0.301469	0.74289	T	0.0152297	0.53736	T	-0.2159	0.53131	T	0.982898235321045	0.74768	D	0.950605	0.94694	D	0.48621652	0.66276	0.29615304	0.55647	0.48621652	0.66276	0.29615304	0.55646	-6.095	0.52752	T	.	.	0.301	0.53557	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.250497	0.88155	29.5	0.99866309272931864	0.94457	0.98053	0.79201	D	AEFBI	0.917709	0.88573	D	0.72359014131207	0.81179	7.461924	0.748747437073254	0.86064	8.771071	0.99999998547948	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	5.46	0.80021	9.014000	0.93156	11.727000	0.94923	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.965	0.92670	824	0.40336	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2188	396.55	55	chr1	220074013	.	G	A	396.55	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-3.491e+00;DP=1720;ExcessHet=2.5830;FS=279.111;InbreedingCoeff=-0.3038;MLEAC=9;MLEAF=0.281;MQ=60.00;MQRankSum=0.00;QD=0.59;ReadPosRankSum=0.665;SOR=11.761	GT:AD:DP:GQ:PL	0/1:66,29:104:78:78,0,1287	9	0	7	5
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S,	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.918	P	0.243	B	0.000	D	0.990	D	0.83	L	1.55	T	-1.120	T	0.056	T	0.262	3.544	18.08	5.73	2.861	6.815	20.260	0.141	0.00874835817134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	5.199e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.709	0.05544	T	0.918	0.50838	P	0.243	0.38752	B	0.000001	0.62929	D	0.097802	0.989506	0.40966	D	1.965	0.53209	M	1.55	0.29866	T	-1.19	0.30346	N	0.147	0.14905	-1.1200	0.02331	T	0.056	0.23715	T	10	0.2658563	0.44086	T	0.008748	0.23099	T	0.141	0.37795	0.358	0.36060	0.223474106383	0.21959	0.16981700195601018	0.16901	0.592570687533	0.54640	0.739543437958	0.72906	T	0.027942	0.20352	T	-0.137119	0.30348	T	-0.434738	0.29399	T	0.899769723415375	0.55214	D	0.762924	0.38892	T	0.1383725	0.32004	0.21677402	0.46317	0.1383725	0.32004	0.21677402	0.46316	-2.787	0.08064	T	0.07926114128440298	0.03886	0.096	0.15475	B	.	.	3.368266	0.46533	22.3	0.99285218365232031	0.58043	0.98279	0.81205	D	AEFBI	0.720452	0.67101	D	0.402651685043986	0.61569	4.359683	0.526830799331264	0.69803	5.412558	0.999690459879266	0.41870	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	6.424000	0.73282	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.260	0.98443	533	0.73433	Rab3GAP regulatory subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2619	372.12	113	chr1	220154029	.	G	C	372.12	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-2.626e+00;DP=1942;ExcessHet=7.7275;FS=214.208;InbreedingCoeff=-0.3437;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=0.39;ReadPosRankSum=-8.540e-01;SOR=12.523	GT:AD:DP:GQ:PL	0/1:70,33:107:37:37,0,1098	10	0	11	0
chr1	224434204	224434204	-	GGAGGAGGA	exonic	WDR26	.	nonframeshift insertion	WDR26:NM_001379403:exon1:c.201_202insTCCTCCTCC:p.S67_V68insSSS,	.	.	.	.	.	.	.	.	.	.	.	2816080	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs144531645	0.0027	0.0024	0.0027	0.0027	0.0043	0.0026	0.0026	0.0038	0.0037	0.0008	0.0018	0.0046	0.0001	0.0012	0.0025	0.0028	0.0026	0.0043	0.0019	0.0019	0.0020	0.0018	0.0047	0.0017	0.0017	0.0032	0.0027	0.0008	0	0.0021	0.0041	0	0.0018	0	0.0025	0.0005	0.0047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	5424.84	16	chr1	224434204	.	C	CGGA,CGGAGGAGGA	5424.84	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.270;DP=500;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4485;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=18.97;ReadPosRankSum=-1.880e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/1:9,19,0:28:99:697,0,321,724,378,1102	8	0	12	0
chr1	225514708	225514708	G	A	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995T:p.A332V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.97	D	0.003	N	1.000	D	1.995	M	1.96	T	0.348	D	0.643	D	0.677	4.366	23.0	5.21	2.430	8.082	18.735	0.233	0.112320486811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.797e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.048	0.50514	D	0.997	0.70673	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999596	0.58761	D	2.275	0.64647	M	-0.04	0.63240	T	-1.67	0.39887	N	0.63	0.64393	0.348	0.88309	D	0.643	0.87528	D	10	0.4695522	0.59778	T	0.11232	0.79042	D	0.233	0.53499	0.104	0.01698	0.612357999405	0.60923	0.16674359625552354	0.16594	0.92458102789	0.71591	0.674778223038	0.63520	T	0.277514	0.65013	T	0.133822	0.67732	D	-0.0455502	0.67325	D	0.946237564086914	0.62427	D	0.848015	0.53747	T	0.17252353	0.37948	0.16418302	0.38047	0.17252353	0.37948	0.16418302	0.38046	-10.699	0.78566	D	.	.	0.227	0.48510	B	.;.;.	.;.;.	4.298915	0.65622	24.9	0.99888774019022097	0.96359	0.99573	0.97585	D	AEFDBI	0.882683	0.81099	D	0.729987147899231	0.81600	7.559994	0.719044094803892	0.83827	8.124527	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4118	1135.81	96	chr1	225514708	.	G	A,C	1135.81	.	AC=12,2;AF=0.353,0.059;AN=34;BaseQRankSum=-2.271e+00;DP=1826;ExcessHet=14.4320;FS=241.820;InbreedingCoeff=-0.6100;MLEAC=13,2;MLEAF=0.382,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.733;SOR=12.218	GT:AD:DP:GQ:PL	0/1:80,36,0:116:90:90,0,1097,308,1190,1498	3	0	12	4
chr1	225514708	225514708	G	C	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995G:p.A332G	.	.	425	1069	28	0	0	28	0.0129271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.994	D	0.97	D	0.003	N	1.000	D	2.545	M	1.97	T	0.305	D	0.679	D	0.661	4.523	24.4	5.21	2.430	8.082	18.735	0.251	0.134379640135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0006	0.0002	0.0001	0.0002	0.0002	0.0001	0.0002	0.0002	9.689e-05	2.258e-05	3.953e-05	2.59e-05	0	0	0.0002	0.0001	7.146e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.183	0.39340	T	0.994	0.66517	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999496	0.58761	D	2.62	0.76659	M	-0.04	0.63240	T	-1.88	0.43906	N	0.603	0.62950	0.305	0.87637	D	0.679	0.88907	D	10	0.44018695	0.58051	T	0.13438	0.81681	D	0.251	0.56024	0.122	0.02867	0.652436559791	0.64954	0.11579549220610402	0.11507	0.929717523318	0.71774	0.644413113594	0.59191	T	0.218669	0.58146	T	0.124294	0.66801	D	-0.0592364	0.66386	T	0.932058036327362	0.59784	D	0.871513	0.63166	D	0.18916725	0.40447	0.18597509	0.41743	0.18916725	0.40446	0.18597509	0.41742	-9.88	0.74330	D	.	.	0.252	0.51900	B	.;.;.	.;.;.	4.037834	0.59751	24.1	0.99785765454140729	0.87219	0.99631	0.98164	D	AEFDBI	0.890935	0.82643	D	0.742122182897517	0.82390	7.750937	0.716777429846324	0.83653	8.078442	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	1135.81	96	chr1	225514708	.	G	A,C	1135.81	.	AC=12,2;AF=0.353,0.059;AN=34;BaseQRankSum=-2.271e+00;DP=1826;ExcessHet=14.4320;FS=241.820;InbreedingCoeff=-0.6100;MLEAC=13,2;MLEAF=0.382,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.733;SOR=12.218	GT:AD:DP:GQ:PL	0/1:80,36,0:116:90:90,0,1097,308,1190,1498	3	0	12	4
chr1	225519349	225519349	-	TCCAGGCGTTCCTGCCGC	exonic	ENAH	.	nonframeshift insertion	ENAH:NM_001008493:exon5:c.650_651insGCGGCAGGAACGCCTGGA:p.L222_D223insERQERL	.	.	438	957	106	11	10	138	0.0626836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	5434.36	33	chr1	225519331	.	ATCCAGGCGTTCCTGCCGC	ATCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCGC,A	5434.36	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-4.580e-01;DP=1490;ExcessHet=0.3300;FS=3.132;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.11;ReadPosRankSum=-1.450e+00;SOR=0.531	GT:AD:DP:GQ:PL	0/2:64,0,61:125:99:2301,2493,5103,0,2610,2409	18	0	1	0
chr1	225988203	225988203	T	C	exonic	SDE2	.	nonsynonymous SNV	SDE2:NM_152608:exon6:c.A827G:p.H276R,	.	.	427	1042	52	1	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	0.148	N	1.000	N	0	N	1.02	T	-1.064	T	0.031	T	0.039	-0.345	2.370	-5.89	-1.523	-0.801	3.857	0.004	.	0.0086	0.00579073	0.0077	0.0053	0.0058	0	0.0018	0.0090	0.0122	0.0117	0.007529	1164	154602	rs41268719	0.0088	0.0088	0.0086	0.0089	0.0321	0.0086	0.0086	0.0283	0.0268	0.0077	0.0067	0.0189	5.038e-05	0.0022	0.0321	0.0088	0.0102	0.0124	0.0078	0.0078	0.0079	0.0077	0.0101	0.0074	0.0073	0.0081	0.0079	0.0065	0.0088	0.0093	0.0222	0	0.0011	0.0238	0.0087	0.0137	0.0101	0.307	0.14159	T	0.548	0.09489	T	0.0	0.02946	B	0.0	0.01387	B	0.147789	0.02938	N	1.557430	1	0.08975	N	0	0.06538	N	1.02	0.40749	T	0.2	0.04861	N	0.061	0.03283	-1.0637	0.10855	T	0.031	0.13330	T	10	0.002553016	0.00039	T	.	.	.	0.004	0.00165	.	.	0.101711395817	0.09552	0.047153908634088824	0.04658	0.218815070265	0.24419	0.195133239031	0.00329	T	0.001554	0.00995	T	-0.708939	0.00032	T	-0.780087	0.02450	T	0.002145647428267	0.00022	T	0.120588	0.00931	T	0.019646542	0.00500	0.022527758	0.00275	0.019646542	0.00500	0.022527758	0.00275	-2.56	0.06205	T	.	.	0.060	0.00890	B	.	.	-0.802183	0.01102	0.050	0.10180873463326895	0.00122	0.07098	0.13124	N	AEFDBCI	0.035649	0.04624	N	-2.26443823681653	0.00055	0.002349059	-2.25596343358124	0.00084	0.003677418	0.999806860516576	0.43304	0.706548	0.73137	0	0.779548	0.99637	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.57	-5.89	0.02093	-0.785000	0.04735	-1.633000	0.05020	-1.597000	0.00898	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.243:0.2402:0.4357:0.0811	3.857	0.08487	754	0.51307	.	H3F3A	Colon_Transverse	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4596.11	33	chr1	225988203	.	T	C	4596.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.331e+00;DP=1034;ExcessHet=0.1072;FS=0.378;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=1.04;SOR=0.662	GT:AD:DP:GQ:PL	0/1:99,102:201:99:2469,0,2520	19	0	2	0
chr1	228022872	228022872	G	A	exonic	WNT3A	.	nonsynonymous SNV	WNT3A:NM_033131:exon2:c.G277A:p.D93N,	.	.	.	.	.	.	.	.	.	.	.	1903869	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.5	T	0.007	B	0.007	B	0.024	N	0.990	D	0.23	N	-0.92	T	-1.024	T	0.166	T	0.042	1.372	10.51	-0.973	-0.370	1.006	11.926	0.098	0.0198545680158	.	.	0.0006	0	8.666e-05	0	0.0075	0.0002	0.0034	0	0.0004334	67	154602	rs201274685	0.0003	0.0003	0.0003	0.0003	0.0002	0.0003	0.0003	2.986e-05	1.805e-05	0	8.95e-05	0	0	0.0079	0.0002	1.35e-05	0.0001	0	0.0006	0.0006	0.0003	0.0010	6.539e-05	0.0005	0.0005	.	.	0	0	6.539e-05	0	0	0.0088	0	1.47e-05	0.0005	0	0.226	0.18562	T	0.252	0.23570	T	0.001	0.07471	B	0.007	0.12992	B	0.023949	0.26349	N	0.285265	0.990039	0.41073	D	-0.095	0.04716	N	-0.92	0.75108	T	0.04	0.06488	N	0.221	0.24758	-1.0240	0.22410	T	0.166	0.50356	T	10	0.008612722	0.00195	T	0.019855	0.42327	T	0.098	0.28162	.	.	0.229543500084	0.22568	0.3403874034364735	0.33951	0.724429857465	0.62389	0.327184975147	0.14508	T	0.547053	0.84595	D	-0.371235	0.03531	T	-0.574058	0.15080	T	0.0209881426536999	0.00800	T	0.89491	0.63503	D	0.046253562	0.07711	0.04741659	0.06826	0.046253562	0.07710	0.04741659	0.06826	-1.942	0.02970	T	.	.	0.096	0.15251	B	.	.	0.703164	0.10717	7.411	0.97136924631118327	0.32525	0.48643	0.28253	N	AEFDBCI	0.141950	0.26426	N	-0.968642335815988	0.09279	0.4384892	-0.874975271222525	0.12689	0.6541455	9.07333825192041E-4	0.07987	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.47	-0.973	0.09771	0.841000	0.27267	1.501000	0.26956	-0.194000	0.09177	0.559000	0.27417	0.740000	0.26476	0.210000	0.22183	0.3083:0.0:0.6917:0.0	11.926	0.52102	712	0.56465	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1457.98	35	chr1	228022872	.	G	A	1457.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.820;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.51;ReadPosRankSum=-9.830e-01;SOR=0.682	GT:AD:DP:GQ:PL	0/1:39,55:94:99:1472,0,897	20	0	1	0
chr1	228338918	228338918	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon69:c.G17150A:p.S5717N	.	.	1	1511	10	0	0	10	0.00329815	.	.	799198	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.012	B	0.016	B	0.000	D	0.948	N	0.145	N	0.03	T	-0.997	T	0.104	T	0.074	4.590	25.0	2.99	1.323	0.621	5.974	0.071	0.0130428366387	8.4e-05	0.000399361	0.0007	0	0.0027	0	0	0.0008	0	0.0008	0.0002264	35	154602	rs376194851	0.0003	0.0003	0.0002	0.0003	0.0074	0.0002	0.0002	0.0057	0.0050	0.0002	0.0008	0.0004	0	0.0004	0.0074	0.0002	0.0005	0.0007	0.0002	0.0002	0.0003	0.0002	0.0014	0.0002	0.0001	0.0007	0.0005	0.0001	0	0.0003	0	0	9.406e-05	0	0.0002	0.0014	0.0014	0.014	0.55530	D	0.039	0.51112	D	0.01	0.16265	B	0.009	0.17743	B	0.000341	0.45440	D	0.192664	0.948424	0.26569	N	0.685	0.16464	N	0.03	0.62183	T	-1.58	0.41046	N	0.406	0.44666	-0.9967	0.30838	T	0.104	0.38243	T	10	0.00957787	0.00216	T	0.013043	0.32127	T	0.071	0.20720	.	.	0.591526896791	0.58829	0.13457952748991803	0.13381	0.0917990224253	0.10363	0.404391646385	0.25680	T	0.051877	0.29003	T	-0.459886	0.00985	T	-0.528457	0.19441	T	0.0159476293540028	0.00378	T	0.771423	0.40183	T	0.12906231	0.30156	0.14025399	0.33438	0.12906231	0.30156	0.14025399	0.33438	-6.91	0.55503	T	.	.	0.104	0.18869	B	.;.;.;.;.	.;.;.;.;.	1.988530	0.25265	16.70	0.98582845668533114	0.43258	0.52928	0.29249	D	AEFBCI	0.210226	0.33614	N	-0.435526316726677	0.24234	1.307065	-0.277289459965985	0.28848	1.611648	0.94741776455265	0.27752	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.562822	0.20929	0	.	.	4.97	2.99	0.33673	0.419000	0.20967	1.004000	0.23282	0.618000	0.50648	0.058000	0.21700	0.451000	0.24953	0.921000	0.45669	0.1911:0.2412:0.5677:0.0	5.974	0.18604	436	0.80373	.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	838.98	33	chr1	228338918	.	G	A	838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.000e-01;DP=757;ExcessHet=0.0000;FS=2.017;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=-7.200e-02;SOR=0.434	GT:AD:DP:GQ:PL	0/1:32,37:69:99:853,0,721	20	0	1	0
chr1	232986232	232986232	C	T	exonic	PCNX2	.	nonsynonymous SNV	PCNX2:NM_014801:exon33:c.G6100A:p.G2034S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	1.0	D	1.0	D	0.000	D	1.000	D	2.075	M	2.79	T	-0.936	T	0.154	T	0.478	4.590	25.0	4.77	1.352	7.476	16.485	0.266	0.0279594816213	.	.	4.58e-05	0	0	0	0.0021	0	0	0	1.29e-05	2	154602	rs766004010	8.527e-06	8.893e-06	8.422e-06	8.634e-06	0.0002	4.55e-06	3.59e-06	8.938e-05	6.294e-05	0	2.729e-05	0	0.0002	8.074e-05	0	0	0	0	3.939e-05	3.937e-05	1.285e-05	6.712e-05	4.81e-05	1.714e-05	1.129e-05	7.97e-06	2.98e-06	4.81e-05	0	0	0	0	0.0003	0	1.47e-05	0	0	0.0	0.91255	D	0.564	0.08991	T	1.0	0.90584	D	0.999	0.97372	D	0.000110	0.50451	D	0.132116	0.999957	0.52396	D	2.685	0.78553	M	2.79	0.24841	T	-1.96	0.47683	N	0.684	0.69037	-0.9360	0.43241	T	0.154	0.48412	T	10	0.18673205	0.34151	T	0.027959	0.50703	D	0.266	0.57999	0.249	0.18602	0.683650843934	0.68095	0.5283847047543918	0.52762	0.650214371269	0.58310	0.823736429214	0.85601	D	0.003025	0.02422	T	-0.0211076	0.48696	T	-0.268096	0.48013	T	0.898600935935974	0.55074	D	0.875412	0.59504	D	0.2776126	0.50818	0.3324777	0.59096	0.2776126	0.50818	0.3324777	0.59095	-3.27	0.13353	T	.	.	0.402	0.65749	A	.;.	.;.	4.858353	0.79476	27.1	0.99849432001396754	0.92925	0.95130	0.63548	D	AEFDBCI	0.890400	0.82539	D	0.626911727360111	0.74884	6.209	0.597015693941314	0.74726	6.186145	0.999999964721815	0.74766	0.634777	0.41761	0	0.550933	0.16991	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	5.71	4.77	0.60425	7.557000	0.81197	5.938000	0.51432	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.854000	0.40426	0.0:0.8689:0.1311:0.0	16.485	0.84027	932	0.16191	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1097.98	38	chr1	232986232	.	C	T	1097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=919;ExcessHet=0.0000;FS=3.064;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.84;ReadPosRankSum=0.330;SOR=0.521	GT:AD:DP:GQ:PL	0/1:35,39:74:99:1112,0,815	20	0	1	0
chr1	240207634	240207634	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1	144	3	1	77	82	0.0170648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	10864.06	96	chr1	240207634	.	G	C,*	10864.06	.	AC=9,1;AF=0.225,0.025;AN=40;BaseQRankSum=0.439;DP=1592;ExcessHet=1.5138;FS=0.581;InbreedingCoeff=-0.0794;MLEAC=9,1;MLEAF=0.225,0.025;MQ=59.94;MQRankSum=0.00;QD=12.25;ReadPosRankSum=-1.210e-01;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,86,0:86:99:1|1:240207634_G_C:3755,260,0,2331,281,2263:240207634	11	1	7	1
chr1	240207641	240207641	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	570	612	17	0	323	340	0.0136986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	12956.77	99	chr1	240207641	.	T	C,*	12956.77	.	AC=10,2;AF=0.238,0.048;AN=42;BaseQRankSum=0.528;DP=1591;ExcessHet=3.2961;FS=0.558;InbreedingCoeff=-0.1667;MLEAC=10,2;MLEAF=0.238,0.048;MQ=59.90;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.299;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,86,0:86:99:1|1:240207634_G_C:3758,261,0,2348,296,2376:240207634	10	1	8	0
chr1	240207647	240207647	-	CCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	exonic	FMN2	.	nonframeshift insertion	FMN2:NM_020066:exon5:c.2835_2836insCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:p.P946_P947insLLPGAGIPLPP	Mental retardation, autosomal recessive 47, Autosomal recessive	.	34	191	0	1	0	2	0.00520833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	0.0017	0.0041	0.0016	0.0018	0.0052	0.0016	0.0016	0.0046	0.0043	0.0015	0.0015	0.0070	0.0052	0.0020	0.0034	0.0014	0.0030	0.0011	0.0026	0.0080	0.0026	0.0026	0.0038	0.0022	0.0021	0.0028	0.0026	0.0015	0.0027	0.0038	0.0037	0.0015	0.0003	0	0.0034	0.0015	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	530.07	66	chr1	240207647	.	G	GCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	530.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.660e-01;DP=1545;ExcessHet=0.1072;FS=3.693;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.24;MQRankSum=0.00;QD=6.54;ReadPosRankSum=-2.083e+00;SOR=1.072	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,11:15:64:0|1:240207647_G_GCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:182,0,64:240207647	19	0	2	0
chr1	240207812	240207812	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1181	328	2	3	8	16	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	5214.49	31	chr1	240207812	.	G	T,A,*	5214.49	.	AC=11,3,1;AF=0.306,0.083,0.028;AN=36;BaseQRankSum=0.227;DP=776;ExcessHet=1.2994;FS=0.000;InbreedingCoeff=0.0004;MLEAC=12,3,1;MLEAF=0.333,0.083,0.028;MQ=50.73;MQRankSum=1.59;QD=13.61;ReadPosRankSum=-1.507e+00;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,9,0,0:11:20:0|1:240207812_G_T:338,0,20,343,47,391,343,47,391,391:240207812	6	1	7	3
chr1	243164788	243164788	T	C	exonic	CEP170	.	nonsynonymous SNV	CEP170:NM_001042404:exon12:c.A2878G:p.T960A	.	.	437	1081	4	0	0	4	0.00184672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.033	B	0.027	B	0.004	N	1.000	D	0.145	N	0.93	T	-1.088	T	0.041	T	0.143	1.532	11.08	2.61	0.758	1.301	2.307	0.040	0.00337698216408	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.116	0.36497	T	0.003	0.12183	B	0.003	0.12133	B	0.003501	0.34874	N	0.314636	0.852511	0.28476	N	0.625	0.15840	N	0.93	0.44461	T	-1.18	0.30140	N	0.129	0.17966	-1.0880	0.05873	T	0.041	0.17700	T	10	0.057254195	0.06548	T	0.003377	0.07572	T	0.040	0.10527	0.086	0.00867	0.226586394389	0.22295	0.19417212300299	0.19335	.	.	0.350310444832	0.17967	T	0.022317	0.17228	T	-0.217121	0.18388	T	-0.549656	0.17358	T	0.118821117053901	0.14315	T	.	.	.	0.0282115	0.02124	0.029842814	0.01368	0.0282115	0.02124	0.029842814	0.01368	-3.706	0.19407	T	.	.	0.068	0.02861	B	.;.;.	.;.;.	1.981023	0.25168	16.66	0.87074863913847245	0.16971	0.78391	0.38668	D	AEFDGBI	0.213461	0.33904	N	-0.525461134752241	0.21260	1.126911	-0.331187252672746	0.27097	1.50124	0.0023660332368525	0.09356	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.15	2.61	0.30255	1.302000	0.33063	1.205000	0.24865	0.660000	0.55035	1.000000	0.71638	0.923000	0.28366	0.996000	0.76049	0.1556:0.0902:0.1615:0.5927	2.307	0.03922	803	0.44167	CEP170, C-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1948.98	35	chr1	243164788	.	T	C	1948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.49;DP=982;ExcessHet=0.0000;FS=2.067;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.97;MQRankSum=0.418;QD=13.08;ReadPosRankSum=-7.410e-01;SOR=0.886	GT:AD:DP:GQ:PL	0/1:81,68:149:99:1963,0,2217	20	0	1	0
chr2	15946035	15946035	G	A	exonic	MYCN	.	nonsynonymous SNV	MYCN:NM_001293231:exon2:c.G700A:p.E234K	Feingold syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.132	B	0.028	B	0.000	D	1.000	D	1.505	L	-2.42	D	0.003	D	0.558	D	0.34	3.921	19.95	4.18	2.553	5.538	14.550	0.376	0.0371175029411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.143	0.33219	T	0.132	0.27209	B	0.028	0.21332	B	0.000000	0.84330	D	0.050805	0.999712	0.48481	D	2.165	0.60562	M	-2.42	0.88611	D	-2.93	0.61284	D	0.395	0.43610	0.003	0.82319	D	0.558	0.83878	D	10	0.42321265	0.57002	T	0.037118	0.57417	D	0.376	0.69443	0.462	0.53079	0.464345556596	0.46058	0.34298800821073144	0.34211	1.4418905105	0.85993	0.5704870224	0.48746	T	0.771374	0.93883	D	0.0693368	0.60769	D	-0.138179	0.60276	T	0.985668301582336	0.76591	D	0.89791	0.64303	D	0.49792138	0.66973	0.32286474	0.58223	0.49792138	0.66974	0.32286474	0.58222	-5.292	0.39864	T	0.17675244821506744	0.22570	0.407	0.59970	A	.;.	.;.	4.100857	0.61141	24.3	0.99891360116435712	0.96513	0.96317	0.68548	D	AEFDBI	0.684090	0.64655	D	0.108999754952485	0.46882	2.921902	0.256105054277514	0.52996	3.471008	0.999999589771732	0.74766	0.645754	0.44609	0	0.563428	0.19063	0	0.696144	0.63334	0	0.586402	0.36253	0	.	.	5.08	4.18	0.48473	5.660000	0.67687	6.441000	0.55653	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.750000	0.35786	0.0751:0.0:0.9249:0.0	14.550	0.67646	961	0.08552	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	909.98	34	chr2	15946035	.	G	A	909.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.980e-01;DP=837;ExcessHet=0.0000;FS=2.383;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.11;ReadPosRankSum=-1.904e+00;SOR=0.487	GT:AD:DP:GQ:PL	0/1:84,44:128:99:924,0,2175	20	0	1	0
chr2	28590033	28590033	G	A	exonic	PLB1	.	nonsynonymous SNV	PLB1:NM_001170585:exon28:c.G2012A:p.R671H	.	.	426	1085	10	1	0	12	0.00549954	.	.	719830	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.001	B	0.003	B	0.180	N	1.000	N	-0.84	N	0.85	T	-0.986	T	0.028	T	0.378	0.402	6.181	-2.81	-0.615	-0.490	10.582	0.018	0.00505523124409	0.0012	0.00119808	0.0017	0.0005	0.0019	0	0	0.0015	0.0044	0.0048	0.0016753	259	154602	rs142897830	0.0019	0.0019	0.0018	0.0019	0.0046	0.0018	0.0018	0.0042	0.0040	0.0007	0.0014	0.0008	7.557e-05	7.489e-05	0.0033	0.0019	0.0020	0.0046	0.0014	0.0014	0.0014	0.0014	0.0052	0.0013	0.0012	0.0036	0.0031	0.0005	0	0.0012	0.0009	0	9.443e-05	0.0136	0.0021	0.0009	0.0052	0.251	0.23541	T	0.366	0.16668	T	0.0	0.02946	B	0.0	0.01387	B	0.179947	0.03174	N	1.544840	1	0.08975	N	-0.64	0.02118	N	0.85	0.47130	T	0.04	0.07444	N	0.18	0.19459	-0.9862	0.33542	T	0.028	0.11882	T	10	0.0034700632	0.00061	T	0.005055	0.12784	T	0.050	0.13987	.	.	0.221734844693	0.21761	0.15005884500736516	0.14927	0.0476105944955	0.05199	0.207062631845	0.00693	T	0.003579	0.06799	T	-0.530214	0.00383	T	-0.534126	0.18876	T	0.00130452338867979	0.00013	T	0.0860914	0.00631	T	0.021170365	0.00706	0.026839256	0.00797	0.021170365	0.00706	0.026839256	0.00796	-2.571	0.06286	T	.	.	0.063	0.03301	B	.;.;.	.;.;.	-0.562218	0.01677	0.120	0.61099216046395033	0.06625	0.00097	0.00633	N	AEFBI	0.032781	0.03768	N	-1.26402117559714	0.04117	0.185223	-1.32978890712622	0.04050	0.1902271	0.99984645876185	0.43971	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.61	-2.81	0.05459	-0.589000	0.05861	-0.912000	0.06951	-1.768000	0.00668	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.527:0.0:0.473:0.0	10.582	0.44449	670	0.60992	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2785.08	35	chr2	28590033	.	G	A	2785.08	.	AC=2;AF=0.048;AN=42;DP=842;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.01;SOR=0.778	GT:AD:DP:GQ:PL	1/1:0,96:96:99:2813,288,0	20	1	0	0
chr2	28851264	28851264	G	A	exonic	TRMT61B	.	nonsynonymous SNV	TRMT61B:NM_017910:exon5:c.C1120T:p.R374C,	.	.	.	.	.	.	.	.	.	.	.	2343809	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.078	B	0.015	B	0.023	N	0.557	D	2.945	M	1.71	T	-0.309	T	0.322	T	0.577	1.959	12.51	2.38	0.639	1.880	7.096	0.201	0.0138474791075	.	.	0.0001	0	8.72e-05	0	0	0.0002	0	0	9.06e-05	14	154602	rs781061232	7.119e-05	7.114e-05	7.9e-05	6.33e-05	7.647e-05	5.984e-05	5.592e-05	6.324e-05	5.826e-05	0	6.729e-05	7.661e-05	0	0.0001	0	7.647e-05	9.945e-05	1.163e-05	6.572e-05	6.567e-05	0.0001	2.69e-05	0.0001	3.517e-05	2.617e-05	5.842e-05	4.239e-05	2.414e-05	0	6.549e-05	0	0	0	0	0.0001	0	0	0.044	0.41096	D	0.002	0.79402	D	0.078	0.24389	B	0.015	0.17295	B	0.023133	0.26501	N	0.334215	0.556525	0.32177	D	2.485	0.72352	M	1.71	0.26737	T	-5.68	0.87223	D	0.367	0.40864	-0.3091	0.74730	T	0.322	0.69108	T	10	0.65512806	0.69829	D	0.013847	0.33560	T	0.201	0.48592	0.757	0.88648	0.481099667738	0.47738	0.6214351026367593	0.62076	0.137929739633	0.15554	0.220098525286	0.01316	T	0.204985	0.56391	T	-0.248708	0.14258	T	-0.3306	0.41403	T	0.414670139551163	0.29492	T	0.80242	0.44873	T	0.18174703	0.39360	0.28452078	0.54450	0.18174703	0.39360	0.28452078	0.54449	-11.479	0.82220	D	.	.	0.108	0.20352	B	.	.	3.361248	0.46405	22.3	0.98348633005718311	0.40517	0.78316	0.38620	D	AEFBI	0.164939	0.29138	N	0.141401827465532	0.48405	3.053206	0.0896790874463549	0.44027	2.692556	4.80497177445814E-4	0.07095	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.33	2.38	0.28415	1.706000	0.37497	2.536000	0.33191	0.676000	0.76740	0.996000	0.39380	0.995000	0.32472	0.992000	0.67800	0.146:0.0:0.7142:0.1398	7.096	0.24492	706	0.57215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	736.98	29	chr2	28851264	.	G	A	736.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.152;DP=725;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.04;ReadPosRankSum=0.845;SOR=0.673	GT:AD:DP:GQ:PL	0/1:20,29:49:99:751,0,473	20	0	1	0
chr2	42763251	42763251	G	A	exonic	OXER1	.	nonsynonymous SNV	OXER1:NM_148962:exon1:c.C929T:p.P310L,	.	.	420	1091	10	1	0	12	0.00546946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	U	1.000	D	2.215	M	-1.31	T	0.227	D	0.615	D	0.688	4.865	27.8	2.85	0.763	5.573	11.027	0.633	0.0440997057121	0.0002	0.000399361	0.0009	0	0.0003	0	0	0.0003	0	0.0045	0.000608	94	154602	rs140761723	0.0004	0.0004	0.0003	0.0005	0.0044	0.0004	0.0003	0.0040	0.0039	2.988e-05	0.0001	0	0	0	0.0035	0.0001	0.0006	0.0044	0.0002	0.0002	0.0001	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	0	0	0	0	0	0	0	0.0002	0.0005	0.0027	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000009	0.62929	U	0.000000	0.99998	0.54805	D	2.875	0.83380	M	-1.31	0.79666	T	-9.83	0.98692	D	0.494	0.52740	0.227	0.86371	D	0.615	0.86376	D	10	0.023899913	0.00640	T	0.044	0.61317	D	0.633	0.85924	.	.	0.8773146778	0.87611	0.6474852452316898	0.64683	0.276129031246	0.30092	0.503885567188	0.39368	T	0.098885	0.40315	T	-0.122885	0.32652	T	0.050837	0.73639	D	0.192853459509187	0.20011	T	0.612239	0.23293	T	0.83476204	0.86236	0.6400364	0.78972	0.83476204	0.86237	0.6400364	0.78973	-13.306	0.90584	D	.	.	0.702	0.73041	P	.	.	3.820152	0.55160	23.6	0.99801246182642378	0.88639	0.91991	0.54704	D	AEFDBCI	0.606030	0.59652	D	0.366437057763865	0.59614	4.142145	0.204075311470157	0.50073	3.203232	0.999999909180412	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.74	2.85	0.32333	3.904000	0.56038	3.511000	0.38840	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.1899:0.8101:0.0	11.027	0.46965	788	0.46569	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1424.98	38	chr2	42763251	.	G	A	1424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.92;DP=1425;ExcessHet=0.0000;FS=0.669;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-1.406e+00;SOR=0.742	GT:AD:DP:GQ:PL	0/1:71,54:125:99:1439,0,1822	20	0	1	0
chr2	48582144	48582144	T	G	exonic	STON1;STON1-GTF2A1L	.	nonsynonymous SNV	STON1-GTF2A1L:NM_001198594:exon1:c.T1511G:p.F504C	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.765	M	0.87	T	-0.360	T	0.300	T	0.983	3.116	16.41	5.3	2.235	7.858	15.419	0.865	0.0857001824122	.	.	2.471e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs775733027	9.577e-06	9.577e-06	2.722e-06	1.65e-05	0.0002	5.56e-06	4.35e-06	8.885e-05	7.053e-05	0	0	0	0	0	0	0	1.656e-05	0.0002	1.971e-05	1.97e-05	1.284e-05	2.689e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	3.16	0.88528	M	0.87	0.46412	T	-7.96	0.96342	D	0.938	0.94904	-0.3596	0.73275	T	0.300	0.67157	T	10	0.938961	0.93223	D	0.086	0.74586	D	0.865	0.95912	0.801	0.92017	0.669162189216	0.66637	0.8057261779074985	0.85287	0.0109615481323	0.01019	0.641445636749	0.58769	T	0.17117	0.51919	T	0.148949	0.69171	D	0.212847	0.83811	D	0.982244908809662	0.74377	D	0.921408	0.71494	D	0.84484917	0.86957	0.7693355	0.86379	0.84484917	0.86959	0.7693355	0.86380	-9.288	0.69532	D	0.8925097708775046	0.94669	0.899	0.84705	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.549972	0.71601	25.7	0.99310135568564784	0.58980	0.98871	0.87966	D	AEFBI	0.903392	0.85242	D	0.817584777367441	0.87192	9.134089	0.752905422107579	0.86373	8.868697	0.99999969610079	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.3	5.3	0.74745	8.008000	0.88114	7.869000	0.71860	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.761000	0.36181	0.0:0.0:0.0:1.0	15.419	0.74714	527	0.73864	Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;.;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2135.98	88	chr2	48582144	.	T	G	2135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.480e-01;DP=1756;ExcessHet=0.0000;FS=1.025;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.86;ReadPosRankSum=-1.393e+00;SOR=0.598	GT:AD:DP:GQ:PL	0/1:151,90:241:99:2150,0,4161	20	0	1	0
chr2	53853799	53853799	C	T	exonic	GPR75	.	nonsynonymous SNV	GPR75:NM_006794:exon2:c.G958A:p.V320M,	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	1.0	D	0.000	D	1.000	D	.	.	-0.75	T	0.152	D	0.602	D	0.845	3.567	18.18	5.4	2.811	7.231	19.359	0.515	.	.	0.00319489	0.0016	0	8.645e-05	0	0	1.498e-05	0.0011	0.0117	0.0014101	218	154602	rs202215281	0.0007	0.0007	0.0004	0.0010	0.0104	0.0006	0.0006	0.0098	0.0096	8.961e-05	2.236e-05	0	2.519e-05	0	0.0003	1.529e-05	0.0007	0.0104	0.0004	0.0004	0.0002	0.0007	0.0120	0.0003	0.0003	0.0095	0.0087	0.0001	0	0	0	0	0	0	1.47e-05	0	0.0120	0.198	0.20532	T	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.695	0.17993	N	-0.75	0.73311	T	-0.09	0.08340	N	0.879	0.87699	0.152	0.85093	D	0.602	0.85855	D	9	0.012266368	0.00264	T	.	.	.	0.515	0.79279	0.749	0.87988	0.578293158758	0.57498	0.6835034547256448	0.68289	0.538872960254	0.51133	0.577518284321	0.49736	T	0.032261	0.22409	T	-0.0801441	0.39693	T	0.12249	0.78399	D	0.0635962845462071	0.07721	T	0.932107	0.74696	D	0.22125143	0.44698	0.18389909	0.41408	0.22125143	0.44698	0.18389909	0.41407	-3.61	0.18002	T	.	.	0.264	0.49826	B	.	.	4.321352	0.66145	24.9	0.99825659326381155	0.90764	0.95198	0.63800	D	AEFBCI	0.813814	0.73619	D	0.74247045569979	0.82414	7.756495	0.748853517288713	0.86073	8.773519	0.999999871573587	0.74766	0.660377	0.49826	0	0.379588	0.06130	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	7.296000	0.78134	7.576000	0.60835	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.359	0.94417	779	0.47767	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1368.98	38	chr2	53853799	.	C	T	1368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.693;DP=874;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.01;ReadPosRankSum=1.35;SOR=0.702	GT:AD:DP:GQ:PL	0/1:109,62:171:99:1383,0,2707	20	0	1	0
chr2	54928320	54928320	A	G	exonic	EML6	.	nonsynonymous SNV	EML6:NM_001039753:exon26:c.A3683G:p.H1228R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.41	B	0.184	B	.	.	0.904	D	-0.295	N	3.68	T	-0.724	T	0.009	T	0.353	1.301	10.26	5.78	2.333	3.380	16.405	0.104	0.00627287944009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.23007	T	0.148	0.32675	T	0.41	0.35064	B	0.184	0.35999	B	.	.	.	.	0.904093	0.36243	D	0.895	0.22405	L	3.68	0.04151	T	-3.98	0.73788	D	0.148	0.15046	-0.7244	0.59244	T	0.009	0.03448	T	9	0.19582486	0.35450	T	0.006273	0.16464	T	0.104	0.29647	0.44	0.49484	0.206339911435	0.20273	0.5437685339188704	0.54302	0.204652363038	0.22886	0.784029603004	0.79537	T	0.174467	0.52370	T	-0.181692	0.23483	T	-0.498764	0.22477	T	0.494912177324295	0.32444	T	0.813119	0.46553	T	0.29780096	0.52706	0.3663138	0.61963	0.29780096	0.52706	0.3663138	0.61963	-7.37	0.56693	T	.	.	0.118	0.24054	B	.	.	2.578010	0.33423	19.33	0.92104708333972818	0.21457	0.93645	0.58787	D	AEFBI	0.466757	0.51427	N	-0.208963543092238	0.32765	1.851541	-0.0404640894266926	0.37906	2.225838	0.999998085265378	0.74766	0.549168	0.22868	0	0.547309	0.14657	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	5.78	5.78	0.91418	3.348000	0.51923	6.132000	0.53930	0.691000	0.84096	0.997000	0.40164	1.000000	0.68203	0.223000	0.22544	1.0:0.0:0.0:0.0	16.405	0.83500	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	351.98	36	chr2	54928320	.	A	G	351.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.790;DP=699;ExcessHet=0.0000;FS=6.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=-1.144e+00;SOR=2.129	GT:AD:DP:GQ:PL	0/1:23,14:37:99:366,0,621	20	0	1	0
chr2	55025878	55025878	C	T	exonic	RTN4	.	nonsynonymous SNV	RTN4:NM_001321859:exon3:c.G1603A:p.D535N	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.958	D	0.395	B	0.025	N	1.000	N	2.045	M	2.16	T	-0.989	T	0.059	T	0.1	2.571	14.56	5.55	2.587	1.678	10.058	0.072	0.00703845217314	0.0004	0.000399361	0.0008	9.848e-05	0.0003	0	0.0002	0.0004	0.0033	0.0033	0.0006339	98	154602	rs139542847	0.0004	0.0004	0.0003	0.0005	0.0029	0.0004	0.0003	0.0026	0.0025	0	0.0003	0.0004	2.52e-05	3.748e-05	0.0010	0.0002	0.0003	0.0029	0.0004	0.0004	0.0003	0.0005	0.0023	0.0003	0.0003	0.0013	0.0010	7.215e-05	0.0143	0.0002	0.0012	0	0	0	0.0005	0	0.0023	0.002	0.78490	D	0.041	0.52727	D	0.958	0.54977	D	0.395	0.44317	B	0.025235	0.26124	N	0.368624	1	0.81001	D	2.395	0.69210	M	2.15	0.19311	T	-1.15	0.29525	N	0.212	0.23758	-0.9890	0.32853	T	0.059	0.24760	T	10	0.0074137747	0.00169	T	0.007038	0.18649	T	0.072	0.21020	.	.	0.301122078929	0.29733	0.12608950571984048	0.12534	0.0695607986047	0.07787	0.431584775448	0.29425	T	0.133553	0.46430	T	-0.538868	0.00340	T	-0.550187	0.17309	T	0.0668692827382266	0.08205	T	0.829317	0.49436	T	0.13502544	0.31352	0.10702573	0.25758	0.13502544	0.31351	0.10702573	0.25757	-4.144	0.25936	T	.	.	0.149	0.35204	B	.;.;.;.;.	.;.;.;.;.	3.457299	0.48168	22.6	0.99783255176942276	0.86955	0.73037	0.35732	D	AEFDBI	0.105695	0.21112	N	0.450632373206082	0.64239	4.673958	0.490324203198416	0.67348	5.071843	0.999999660890378	0.74766	0.660377	0.49826	0	0.596877	0.49441	0	0.696353	0.63694	0	0.322989	0.05693	1	.	.	5.55	5.55	0.83298	1.727000	0.37717	7.733000	0.67792	0.599000	0.40250	0.990000	0.36992	1.000000	0.68203	1.000000	0.97212	0.0:0.7736:0.15:0.0764	10.058	0.41431	625	0.65529	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2165.98	34	chr2	55025878	.	C	T	2165.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.165e+00;DP=882;ExcessHet=0.0000;FS=1.197;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=0.818;SOR=0.725	GT:AD:DP:GQ:PL	0/1:86,83:169:99:2180,0,2270	20	0	1	0
chr2	61188284	61188284	C	G	exonic	USP34	.	nonsynonymous SNV	USP34:NM_014709:exon80:c.G10459C:p.D3487H,	.	.	.	.	.	.	.	.	.	.	.	719926	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.38	B	0.135	B	0.000	D	1.000	D	0.695	N	3.81	T	-0.928	T	0.150	T	0.331	3.229	16.82	5.52	2.748	2.278	19.804	0.120	.	0.0047	0.00319489	0.0011	0.0122	0.0008	0	0	1.499e-05	0	0	0.001009	156	154602	rs143842551	0.0004	0.0004	0.0005	0.0003	0.0158	0.0004	0.0004	0.0147	0.0142	0.0158	0.0005	0	0	0	0.0007	4.496e-06	0.0008	3.478e-05	0.0042	0.0042	0.0045	0.0040	0.0147	0.0040	0.0039	0.0137	0.0133	0.0147	0	0.0014	0	0	0	0	5.88e-05	0.0033	0	0.005	0.63226	D	0.071	0.92824	T	0.38	0.34363	B	0.135	0.33210	B	0.000035	0.55875	D	0.122835	0.999693	0.48338	D	0.55	0.14455	N	3.81	0.03754	T	-1.6	0.42001	N	0.344	0.38541	-0.9285	0.44357	T	0.150	0.47787	T	10	0.0050117373	0.00108	T	.	.	.	0.120	0.33359	.	.	0.0675242888579	0.06100	0.4683699994929505	0.46755	.	.	0.682400524616	0.64613	T	0.029304	0.21028	T	-0.496044	0.00602	T	-0.474278	0.25056	T	0.0226588667352599	0.00984	T	0.932107	0.74696	D	0.21788193	0.44282	0.23402828	0.48609	0.21788193	0.44282	0.23402828	0.48608	-3.782	0.20536	T	.	.	0.280	0.51323	B	.;.	.;.	3.619823	0.51223	23.1	0.99454489067735019	0.65479	0.91092	0.52844	D	AEFBCI	0.309135	0.41553	N	0.230537505063279	0.52683	3.441033	0.350221540407581	0.58519	4.023061	0.999998913127785	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.52	5.52	0.82153	2.262000	0.42941	7.600000	0.61533	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.804	0.96517	271	0.89373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2299.98	34	chr2	61188284	.	C	G	2299.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.609e+00;DP=902;ExcessHet=0.0000;FS=8.828;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=-1.029e+00;QD=13.14;ReadPosRankSum=-7.350e-01;SOR=0.336	GT:AD:DP:GQ:PL	0/1:91,84:175:99:2314,0,2669	20	0	1	0
chr2	65071662	65071662	C	G	exonic	CEP68	.	nonsynonymous SNV	CEP68:NM_001319100:exon3:c.C566G:p.S189C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.948	P	0.443	B	0.392	N	1.000	N	0.55	N	2.43	T	-0.983	T	0.036	T	0.114	2.735	15.10	1.95	0.575	1.329	9.133	0.072	0.00693883964409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.61437	D	0.004	0.74150	D	0.699	0.47190	P	0.35	0.45803	B	0.391600	0.04480	N	1.409480	1	0.18612	N	0.69	0.16971	N	2.42	0.15376	T	-1.97	0.45769	N	0.133	0.15328	-0.9834	0.34211	T	0.036	0.15726	T	10	0.11459336	0.21565	T	0.006939	0.18374	T	0.072	0.21020	0.264	0.20946	0.259761712551	0.25597	0.13873945403852525	0.13796	0.210216258061	0.23503	0.262213468552	0.05157	T	0.040711	0.25618	T	-0.295174	0.09122	T	-0.661774	0.08147	T	0.33893919628058	0.26581	T	0.607039	0.22875	T	0.2900767	0.51999	0.10595651	0.25481	0.2900767	0.51999	0.10595651	0.25480	-5.569	0.42508	T	.	.	0.082	0.10449	B	.;.	.;.	1.521330	0.19533	14.31	0.98204718716872874	0.39158	0.32620	0.24630	N	AEFDBHCI	0.070621	0.14027	N	-0.455312818497417	0.23559	1.266076	-0.567081469198086	0.20354	1.096224	0.999999991997938	0.74766	0.722319	0.85440	0	0.552637	0.17590	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	1.95	0.25130	0.036000	0.13706	-0.384000	0.09521	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6357:0.2776:0.0867	9.133	0.36018	905	0.23532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2092.98	34	chr2	65071662	.	C	G	2092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.758;DP=943;ExcessHet=0.0000;FS=1.983;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.958;SOR=0.877	GT:AD:DP:GQ:PL	0/1:88,81:169:99:2107,0,2373	20	0	1	0
chr2	68386549	68386549	C	T	exonic	PLEK	.	nonsynonymous SNV	PLEK:NM_002664:exon5:c.C520T:p.R174C,	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.983	D	0.000	D	1.000	D	2.62	M	1.26	T	-0.548	T	0.206	T	0.805	4.538	24.5	5.38	2.517	4.799	19.136	0.427	0.0590445808428	0.0016	0.000998403	0.0022	0.0004	8.679e-05	0	0.0026	0.0032	0.0033	0.0013	0.002031	314	154602	rs140933780	0.0020	0.0020	0.0021	0.0020	0.0022	0.0020	0.0020	0.0022	0.0021	0.0001	0.0002	0.0005	2.519e-05	0.0045	0.0002	0.0022	0.0019	0.0014	0.0016	0.0016	0.0016	0.0015	0.0024	0.0014	0.0013	0.0021	0.0019	0.0003	0	0.0007	0.0009	0	0.0036	0	0.0024	0.0028	0.0017	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.971	0.72444	D	0.000000	0.84330	D	0.047916	1	0.81001	D	2.675	0.78361	M	1.26	0.36330	T	-5.14	0.83292	D	0.83	0.82559	-0.5482	0.66855	T	0.206	0.56444	T	10	0.060203493	0.07359	T	0.059045	0.67528	D	0.427	0.73445	.	.	0.784722066252	0.78273	0.8448214561971074	0.84443	0.389638434514	0.40197	0.587208330631	0.51101	T	0.449741	0.79112	T	-0.174496	0.24559	T	-0.0274193	0.68540	D	0.0754928767894532	0.09401	T	0.964504	0.86839	D	0.7284972	0.79639	0.5726318	0.75248	0.7284972	0.79640	0.5726318	0.75249	-8.572	0.64904	D	.	.	0.511	0.65060	A	.	.	5.208958	0.87404	29.2	0.99935918726773798	0.99621	0.94581	0.61632	D	AEFDGBHCI	0.882009	0.80980	D	0.800551090566323	0.86140	8.790908	0.757816976293164	0.86738	8.987032	0.999999999999977	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.38	5.38	0.77279	4.869000	0.62723	7.584000	0.61047	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.136	0.93413	563	0.71062	DEP domain|DEP domain|DEP domain|Pleckstrin 1, DEP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1249.98	35	chr2	68386549	.	C	T	1249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.58;DP=819;ExcessHet=0.0000;FS=3.406;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=-1.450e+00;SOR=0.987	GT:AD:DP:GQ:PL	0/1:69,49:118:99:1264,0,1571	20	0	1	0
chr2	68646218	68646218	G	A	exonic	PROKR1	.	nonsynonymous SNV	PROKR1:NM_138964:exon2:c.G397A:p.G133S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.988	D	0.000	D	1.000	D	1.78	L	1.04	T	-0.722	T	0.234	T	0.99	3.771	19.15	5.21	2.890	9.479	16.671	0.553	0.0180688021447	.	0.000199681	7.523e-05	0	0	0	0	0.0001	0	6.545e-05	7.76e-05	12	154602	rs201334198	5.615e-05	5.609e-05	6.13e-05	5.094e-05	6.571e-05	4.614e-05	4.24e-05	5.34e-05	4.912e-05	2.988e-05	2.238e-05	0	2.521e-05	1.873e-05	0	6.571e-05	4.973e-05	2.323e-05	9.847e-05	9.842e-05	0.0001	5.37e-05	0.0002	6.001e-05	4.876e-05	0.0001	7.894e-05	7.218e-05	0	0	0	0	0	0	0.0002	0	0	0.102	0.30235	T	0.016	0.60972	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.043732	1	0.81001	D	2.505	0.72935	M	1.04	0.40218	T	-4.09	0.74821	D	0.974	0.98657	-0.7220	0.59364	T	0.234	0.60051	T	10	0.8755444	0.86843	D	0.018069	0.40007	T	0.553	0.81544	.	.	0.52468985305	0.52114	0.642854335533403	0.64220	0.655251772955	0.58571	0.649167180061	0.59868	T	0.576296	0.86054	D	0.101489	0.64454	D	0.12334	0.78456	D	0.766633689403534	0.44239	D	0.965203	0.87125	D	0.48192245	0.66017	0.4175482	0.65805	0.48192245	0.66018	0.4175482	0.65805	-3.806	0.20894	T	.	.	0.460	0.65274	A	.;.	.;.	4.496819	0.70292	25.5	0.99847031416941212	0.92663	0.96409	0.68996	D	AEFGBCI	0.913929	0.87661	D	0.725524272527681	0.81305	7.491309	0.674412346247828	0.80439	7.299355	0.999999999999356	0.74766	0.625279	0.40028	0	0.563428	0.19063	0	0.687403	0.62504	0	0.530356	0.10902	0	.	.	5.21	5.21	0.72005	9.879000	0.98499	11.793000	0.96431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.185000	0.21450	0.0:0.0:1.0:0.0	16.671	0.85124	833	0.38804	.;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3133.98	42	chr2	68646218	.	G	A	3133.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.527;DP=938;ExcessHet=0.0000;FS=1.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=-9.620e-01;SOR=0.566	GT:AD:DP:GQ:PL	0/1:100,119:219:99:3148,0,2555	20	0	1	0
chr2	70921265	70921265	C	A	exonic	VAX2	.	nonsynonymous SNV	VAX2:NM_012476:exon2:c.C415A:p.L139M,	.	.	10	1450	61	1	0	63	0.0212622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.055	M	-4.79	D	1.084	D	0.963	D	0.824	3.925	19.97	3.63	0.671	3.055	9.833	0.843	.	0.0018	0.00599042	0.0045	0.0006	0.0012	0.0001	0.0005	0.0023	0.0080	0.0223	0.0040168	621	154602	rs56075602	0.0034	0.0034	0.0028	0.0040	0.0218	0.0033	0.0033	0.0209	0.0206	0.0003	0.0007	0.0008	2.528e-05	0.0005	0.0073	0.0024	0.0038	0.0218	0.0019	0.0019	0.0015	0.0022	0.0199	0.0017	0.0016	0.0167	0.0155	0.0005	0	0.0010	0.0009	0	0.0008	0.0102	0.0020	0.0009	0.0199	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	0.999999	0.58761	D	3.28	0.90206	M	-4.79	0.98155	D	-1.87	0.43717	N	0.835	0.83066	1.084	0.99011	D	0.963	0.98797	D	10	0.012894422	0.00275	T	.	.	.	0.843	0.95101	.	.	0.994496113608	0.99443	0.48373213927814934	0.48293	0.291920001814	0.31603	0.739147901535	0.72847	T	0.708417	0.91663	D	0.072921	0.61203	D	0.349555	0.90297	D	0.0772881118984215	0.09637	T	0.910909	0.68443	D	0.5141345	0.67921	0.46391258	0.68881	0.5141345	0.67922	0.46391258	0.68881	-8.698	0.65733	D	.	.	0.829	0.78671	P	.	.	3.820018	0.55149	23.6	0.99643519408860837	0.76819	0.93748	0.59079	D	AEFBI	0.639393	0.61746	D	0.61188462827725	0.73923	6.046364	0.513243209958108	0.68880	5.281514	0.999775004554386	0.42865	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.43	3.63	0.40741	3.127000	0.50178	2.656000	0.33848	-0.172000	0.11096	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	0.0:0.8331:0.0:0.1669	9.833	0.40121	723	0.55174	Homeobox domain|Homeobox domain, metazoa|Helix-turn-helix motif|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1542.98	42	chr2	70921265	.	C	A	1542.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.742;DP=986;ExcessHet=0.0000;FS=2.348;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=-1.047e+00;SOR=0.957	GT:AD:DP:GQ:PL	0/1:63,62:125:99:1557,0,1466	20	0	1	0
chr2	73385912	73385912	-	GGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGA:p.E28_A29insE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/2:0,20,29,0,0,0:49:99:1983,1200,1140,807,0,911,2008,1212,910,2097,2008,1212,910,2097,2097,2008,1212,910,2097,2097,2097	0	4	5	0
chr2	73385907	73385912	GGAGGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.39_44del:p.E27_E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/2:0,20,29,0,0,0:49:99:1983,1200,1140,807,0,911,2008,1212,910,2097,2008,1212,910,2097,2097,2008,1212,910,2097,2097,2097	0	4	5	0
chr2	73385910	73385912	GGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.42_44del:p.E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/2:0,20,29,0,0,0:49:99:1983,1200,1140,807,0,911,2008,1212,910,2097,2008,1212,910,2097,2097,2008,1212,910,2097,2097,2097	0	4	5	0
chr2	73385912	73385912	-	GGAGGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGAGGA:p.E28_A29insEE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/2:0,20,29,0,0,0:49:99:1983,1200,1140,807,0,911,2008,1212,910,2097,2008,1212,910,2097,2097,2008,1212,910,2097,2097,2097	0	4	5	0
chr2	73491483	73491483	C	T	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon10:c.C9524T:p.P3175L	Alstrom syndrome, Autosomal recessive	.	0	225	1	0	0	1	0.00221729	.	.	2081872	Cardiovascular_phenotype|Alstrom_syndrome	MedGen:CN230736|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.985	D	0.012	N	1.000	D	1.525	L	3.09	T	-1.206	T	0.049	T	0.375	3.264	16.95	4.25	2.669	3.297	12.507	0.188	0.0026243708428	.	.	8.377e-06	0	0	0	0	0	0	6.105e-05	6.5e-06	1	154602	rs768943180	6.841e-06	6.84e-06	4.084e-06	9.627e-06	8.117e-05	3.46e-06	2.52e-06	3.766e-05	2.662e-05	0	0	0	0	0	0	2.698e-06	0	8.117e-05	6.573e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.011954	0.29343	N	0.163582	0.993438	0.41939	D	.	.	.	.	.	.	.	.	.	0.319	0.37197	-1.2061	0.00110	T	0.049	0.21065	T	10	0.29135394	0.46715	T	0.002624	0.05320	T	.	.	.	.	0.420199648628	0.41636	0.19321962186226635	0.19239	.	.	0.364694237709	0.20067	T	0.095463	0.39627	T	-0.108006	0.35098	T	-0.292289	0.45535	T	0.893869638442993	0.54516	D	0.758124	0.38180	T	0.12392936	0.29090	0.12296282	0.29654	0.12392936	0.29090	0.12296282	0.29654	-3.13	0.11644	T	0.5746673774759329	0.64168	0.102	0.17785	B	.;.;.	.;.;.	3.339062	0.46004	22.2	0.99879545252583946	0.95572	0.77328	0.38008	D	AEFBI	0.138792	0.26019	N	0.47547473466943	0.65663	4.850715	0.410173100630806	0.62197	4.431264	0.0530671325069116	0.14926	0.615465	0.37627	0	0.667123	0.63270	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.25	4.25	0.49658	1.120000	0.30885	2.460000	0.32851	0.597000	0.34315	0.061000	0.21800	0.954000	0.29108	0.904000	0.43992	0.0:1.0:0.0:0.0	12.507	0.55333	658	0.62094	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	776.98	40	chr2	73491483	.	C	T	776.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.400e-01;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=-2.620e-01;SOR=0.631	GT:AD:DP:GQ:PL	0/1:41,31:72:99:791,0,1123	20	0	1	0
chr2	79158731	79158731	G	T	exonic	REG3A	.	nonsynonymous SNV	REG3A:NM_138938:exon2:c.C115A:p.R39S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.0	B	0.037	N	1.000	N	-2.015	N	2.64	T	-0.935	T	0.007	T	0.056	-0.932	0.374	2.66	0.771	1.092	7.457	0.022	0.00112225708441	.	.	2.493e-05	0	0	0	0	4.524e-05	0	0	1.94e-05	3	154602	rs141740162	3.437e-06	0.0007	1.366e-06	5.532e-06	3.554e-05	1.01e-06	7.3e-07	9.44e-06	4.62e-06	0	2.28e-05	0	0	0	0	9.017e-07	0	3.554e-05	6.645e-06	0.0009	0	1.361e-05	1.481e-05	0	0	.	.	0	0	0	0	0	0	0	1.481e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.037403	0.24405	N	0.400827	1	0.08975	N	-2.765	0.00026	N	2.64	0.12780	T	3.27	0.00108	N	0.061	0.03502	-0.9351	0.43379	T	0.007	0.02244	T	10	0.08776298	0.15048	T	0.001122	0.01360	T	0.022	0.04323	.	.	0.0401082797425	0.02173	0.23763958079538905	0.23677	0.0547631763429	0.06061	0.20862942934	0.00754	T	0.021425	0.16689	T	-0.398869	0.02355	T	-0.810724	0.01649	T	0.0314632799417354	0.02220	T	0.0610939	0.00444	T	0.24203835	0.47127	0.078462504	0.17576	0.24203835	0.47126	0.078462504	0.17575	-1.334	0.01457	T	.	.	0.132	0.28778	B	.;.;.	.;.;.	0.622617	0.09910	6.670	0.71659157753313818	0.09704	0.00024	0.00244	N	AEFGI	0.042367	0.06565	N	-1.53127221375122	0.01647	0.07204684	-1.40102100368093	0.03242	0.1508413	1.10306997856234E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.83	2.66	0.30672	1.142000	0.31152	-0.207000	0.10889	-0.832000	0.02862	0.480000	0.26800	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.2961:0.7039	7.457	0.26440	956	0.09877	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	148.11	42	chr2	79158731	.	G	T	148.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.81;DP=1262;ExcessHet=0.1072;FS=31.424;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.16;MQRankSum=-1.265e+01;QD=0.33;ReadPosRankSum=-5.185e+00;SOR=4.955	GT:AD:DP:GQ:PL	0/1:198,17:215:71:71,0,8076	19	0	2	0
chr2	84745150	84745150	C	A	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon63:c.C10413A:p.H3471Q,	.	.	441	1080	1	0	0	1	0.000462749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.0	B	0.0	B	0.000	N	1.000	N	0.145	N	1.88	T	-1.050	T	0.021	T	0.038	-0.062	3.697	0.041	0.195	-0.760	1.340	0.049	0.00451918755425	0.0024	0.00219649	0.0008	0.0079	0	0	0	0	0	0	0.0002393	37	154602	rs61731722	0.0002	0.0002	0.0003	0.0002	0.0093	0.0002	0.0002	0.0084	0.0081	0.0093	0.0003	0	0	0	0.0002	6.497e-06	0.0005	0	0.0028	0.0028	0.0030	0.0025	0.0099	0.0025	0.0025	0.0091	0.0088	0.0099	0	0.0003	0	0	0	0	2.941e-05	0.0009	0.0002	0.349	0.12345	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.000001	0.00162	N	9.780560	1	0.08975	N	-1.04	0.01097	N	1.88	0.23884	T	-0.66	0.19085	N	0.047	0.03392	-1.0496	0.14509	T	0.021	0.08686	T	10	0.0058279037	0.00130	T	0.004519	0.11125	T	0.049	0.13647	0.288	0.24761	0.0666544352282	0.05500	0.08516813317625908	0.08450	0.0811084518359	0.09126	0.331215023994	0.15118	T	0.001338	0.00808	T	-0.728399	0.00024	T	-0.809676	0.01673	T	0.0154781509797788	0.00349	T	0.243776	0.03556	T	0.05396424	0.10287	0.0348504	0.02627	0.05396424	0.10286	0.0348504	0.02627	-2.265	0.04368	T	.	.	0.093	0.14155	B	.;.	.;.	-0.321161	0.02526	0.301	0.4491477882664181	0.03487	0.01687	0.05379	N	AEFI	0.058828	0.11065	N	-1.21223617863128	0.04821	0.2184189	-1.23591555235071	0.05343	0.2543362	7.81911135387466E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.45	0.041	0.13530	-0.475000	0.06678	-2.533000	0.03639	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.255:0.4119:0.2018:0.1313	1.340	0.02022	612	0.66786	Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	656.98	38	chr2	84745150	.	C	A	656.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.480;DP=759;ExcessHet=0.0000;FS=0.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.39;ReadPosRankSum=-1.929e+00;SOR=0.861	GT:AD:DP:GQ:PL	0/1:40,30:70:99:671,0,940	20	0	1	0
chr2	85343319	85343319	C	T	exonic	RETSAT	.	nonsynonymous SNV	RETSAT:NM_017750:exon11:c.G1756A:p.A586T,	.	.	407	1094	21	0	0	21	0.00950656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.526	P	0.127	B	0.021	N	0.886	D	0.955	L	1.87	T	-1.051	T	0.022	T	0.395	1.493	10.94	2.79	1.239	0.516	5.069	0.041	.	0.0089	.	0.0086	0.0052	0.0056	0	0.0086	0.0119	0.0198	0.0030	0.0078524	1214	154602	rs143283662	0.0081	0.0095	0.0081	0.0081	0.0296	0.0080	0.0079	0.0260	0.0246	0.0051	0.0044	0.0146	2.519e-05	0.0085	0.0296	0.0088	0.0092	0.0023	0.0079	0.0087	0.0082	0.0077	0.0109	0.0076	0.0074	0.0102	0.0100	0.0045	0.0044	0.0069	0.0168	0.0002	0.0054	0.0340	0.0109	0.0128	0.0037	0.359	0.11957	T	0.435	0.13518	T	0.392	0.34646	B	0.06	0.26717	B	0.021399	0.26843	N	0.378221	0.886002	0.35849	D	1.145	0.29067	L	1.85	0.24472	T	-0.13	0.08971	N	0.027	0.00571	-1.0511	0.14092	T	0.022	0.09330	T	10	0.0038142502	0.00072	T	.	.	.	0.041	0.10877	.	.	0.0806252709748	0.07271	0.34702988945191915	0.34616	0.0721809193313	0.08090	0.345627218485	0.17275	T	0.003362	0.02768	T	-0.485256	0.00690	T	-0.462848	0.26288	T	0.00579000855353255	0.00063	T	0.782822	0.41925	T	0.0648611	0.13805	0.06569235	0.13352	0.0648611	0.13805	0.06569235	0.13352	-6.015	0.46406	T	.	.	0.074	0.05145	B	.	.	2.508222	0.32389	19.03	0.97707709646145702	0.35477	0.14533	0.18453	N	AEFDGBI	0.082621	0.16731	N	-0.468265707214611	0.23126	1.23968	-0.422141506085331	0.24348	1.332844	0.905570000125748	0.26208	0.631515	0.41029	0	0.697927	0.68747	0	0.606735	0.37207	0	0.741806	0.99463	0	.	.	5.02	2.79	0.31792	0.546000	0.22991	0.355000	0.17517	0.505000	0.23025	0.159000	0.23783	0.026000	0.21063	0.654000	0.32802	0.0:0.6331:0.0:0.3669	5.069	0.13935	888	0.27761	.	.	.	.	.	chr2:85570442	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	624.98	36	chr2	85343319	.	C	T	624.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=830;ExcessHet=0.0000;FS=1.687;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.88;ReadPosRankSum=2.30;SOR=0.879	GT:AD:DP:GQ:PL	0/1:97,31:128:99:639,0,2485	20	0	1	0
chr2	85754845	85754845	C	T	exonic	ATOH8	.	nonsynonymous SNV	ATOH8:NM_032827:exon1:c.C656T:p.A219V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.628	P	0.137	B	0.023	N	0.943	N	0	N	-3.44	D	-0.299	T	0.506	D	0.044	2.704	15.00	2.91	1.186	2.410	5.503	0.202	0.269168828589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.424e-06	4.788e-06	2.726e-06	4.13e-06	2.988e-05	1e-06	7.3e-07	.	.	2.988e-05	0	0	0	0	0	8.994e-07	4.97e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.293	0.20811	T	0.146	0.27821	B	0.026	0.20792	B	0.023199	0.26489	N	0.362333	0.94286	0.26738	N	0.805	0.20218	L	-3.44	0.94428	D	-1.89	0.44094	N	0.079	0.05414	-0.2986	0.75023	T	0.506	0.81401	D	10	0.1365661	0.25983	T	0.269169	0.89812	D	0.202	0.48754	0.205	0.12076	0.189391138174	0.18552	0.48405535922803766	0.48325	0.58505323944	0.54161	0.56286072731	0.47672	T	0.135526	0.46739	T	-0.0367742	0.46426	T	-0.2906	0.45711	T	0.465727116118099	0.31375	T	0.69563	0.30512	T	0.11841787	0.27901	0.24083182	0.49466	0.11841787	0.27901	0.24083182	0.49465	-5.036	0.37228	T	.	.	0.110	0.21011	B	.	.	3.935949	0.57556	23.9	0.99719752957968288	0.81984	0.46395	0.27750	N	ALL	0.438561	0.49790	N	-0.319124114559646	0.28422	1.567527	-0.19253508772832	0.31810	1.803716	0.999999999423133	0.74766	0.443343	0.08805	1	0.606814	0.50340	0	0.666236	0.60216	0	0.372554	0.06265	0	.	.	3.79	2.91	0.32903	2.870000	0.48150	6.063000	0.53189	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.686:0.2037:0.1103	5.503	0.16127	470	0.78111	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1707.98	39	chr2	85754845	.	C	T	1707.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.506e+00;DP=920;ExcessHet=0.0000;FS=2.182;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=0.713;SOR=0.945	GT:AD:DP:GQ:PL	0/1:63,74:137:99:1722,0,1533	20	0	1	0
chr2	88175306	88175306	T	A	exonic	THNSL2	.	startloss	THNSL2:NM_001244678:exon2:c.T2A:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.371	B	0.188	B	0.163	N	0.949	N	0.895	L	-4.1	D	0.421	D	0.794	D	0.62	2.610	14.69	5.63	2.148	7.007	15.022	0.626	0.121767540814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.83351	D	0.371	0.34093	B	0.088	0.36237	B	0.163205	0.17598	N	0.611355	0.948642	0.26562	N	1.75	0.45442	L	2.4	0.96659	T	-4.56	0.78636	D	0.646	0.71055	0.421	0.89419	D	0.794	0.93025	D	10	0.91986036	0.91341	D	0.121768	0.80260	D	0.626	0.85563	0.81	0.92650	0.880059284943	0.87888	0.865175554662152	0.86482	0.189735641114	0.21295	0.335973978043	0.15835	T	0.674026	0.90356	D	0.264457	0.79939	D	0.142097	0.79681	D	0.962074458599091	0.66262	D	0.9	0.65058	D	0.91978294	0.93227	0.8802182	0.93577	0.91978294	0.93228	0.8802182	0.93577	-14.059	0.93246	D	.	.	0.743	0.74773	P	.;.;.;.	.;.;.;.	3.878359	0.56357	23.7	0.96594604218718427	0.30383	0.97216	0.73376	D	AEFDBI	0.840456	0.75774	D	0.0636729413697054	0.44772	2.745344	0.206091314201626	0.50185	3.213247	0.999999338528988	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.63	5.63	0.86108	6.994000	0.76013	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.0:1.0	15.022	0.71301	952	0.10565	.;.;.;Pyridoxal-phosphate dependent enzyme	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1396.98	34	chr2	88175306	.	T	A	1396.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=849;ExcessHet=0.0000;FS=6.182;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.31;ReadPosRankSum=-7.480e-01;SOR=0.553	GT:AD:DP:GQ:PL	0/1:91,59:150:99:1411,0,2266	20	0	1	0
chr2	88576644	88576644	G	A	exonic	EIF2AK3	.	nonsynonymous SNV	EIF2AK3:NM_001313915:exon12:c.C1493T:p.P498L	Wolcott-Rallison syndrome, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1419605	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.999	D	0.000	D	1.000	D	2.54	M	1.69	T	-0.754	T	0.197	T	0.725	4.575	24.8	5.48	2.565	6.488	19.341	0.455	0.081945916687	.	.	1.649e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs752306602	1.437e-05	1.436e-05	1.225e-05	1.65e-05	0.0002	9.23e-06	7.84e-06	0.0001	9.45e-05	2.987e-05	0	0	0	0	0	2.698e-06	1.656e-05	0.0002	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	0.005	0.63226	D	0.046	0.49120	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.88	0.83451	M	1.69	0.27032	T	-4.57	0.78721	D	0.85	0.84609	-0.7537	0.57742	T	0.197	0.55215	T	10	0.81030935	0.80322	D	0.081946	0.73794	D	0.455	0.75415	0.763	0.89133	0.846449383411	0.84497	0.8522391688266304	0.85185	0.710764796044	0.61698	0.77463966608	0.78120	T	0.431	0.77947	T	-0.1053	0.35547	T	-0.129353	0.61027	T	0.838449895381927	0.49201	D	0.953905	0.82456	D	0.35898674	0.57759	0.35219693	0.60802	0.35898674	0.57759	0.35219693	0.60801	-11.657	0.83140	D	.	.	0.192	0.41141	B	.;.;.	.;.;.	5.404019	0.90485	31	0.99892754348136192	0.96666	0.97850	0.77597	D	AEFBI	0.679481	0.64349	D	0.800846810237405	0.86157	8.796839	0.76607262895648	0.87352	9.192693	0.999998745440762	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	6.597000	0.73999	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.341	0.94330	841	0.37094	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	749.98	33	chr2	88576644	.	G	A	749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=771;ExcessHet=0.0000;FS=0.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.62;ReadPosRankSum=-1.730e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/1:46,32:78:99:764,0,1048	20	0	1	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G	.	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.919	D	0.000	D	1.000	D	3.26	M	3.93	T	-1.109	T	0.045	T	0.571	3.511	17.94	2.43	1.049	4.806	10.548	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	33671.17	300	chr2	94876618	.	C	G	33671.17	.	AC=17;AF=0.425;AN=40;BaseQRankSum=-2.098e+00;DP=6579;ExcessHet=25.1139;FS=1.453;InbreedingCoeff=-0.7143;MLEAC=18;MLEAF=0.450;MQ=57.19;MQRankSum=-1.858e+01;QD=5.73;ReadPosRankSum=-2.736e+00;SOR=0.866	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:332,29:361:99:0|1:94876601_A_G:218,0,13853:94876601	3	0	17	1
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C	.	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.048	B	0.017	B	0.105	N	1.000	D	1.645	L	4.19	T	-0.957	T	0.009	T	0.649	1.193	9.848	1.05	1.049	0.077	6.095	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.45	45706.22	343	chr2	94876632	.	C	T	45706.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-3.939e+00;DP=7445;ExcessHet=30.0624;FS=0.645;InbreedingCoeff=-0.7872;MLEAC=19;MLEAF=0.475;MQ=56.72;MQRankSum=-1.920e+01;QD=6.73;ReadPosRankSum=-7.690e-01;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:347,36:383:99:0|1:94876601_A_G:467,0,14432:94876601	2	0	18	1
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V	.	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.967	D	0.77	P	0.000	D	1.000	D	2.675	M	3.8	T	-1.154	T	0.035	T	0.579	2.768	15.22	2.43	0.866	3.036	8.354	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4524	58582.68	398	chr2	94876671	.	A	G	58582.68	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-7.281e+00;DP=8408;ExcessHet=36.0830;FS=0.633;InbreedingCoeff=-0.8261;MLEAC=19;MLEAF=0.452;MQ=56.56;MQRankSum=-2.037e+01;QD=7.10;ReadPosRankSum=4.57;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:381,44:425:99:0|1:94876670_C_T:701,0,15773:94876670	2	0	19	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T	.	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.003	B	0.013	B	0.040	N	0.984	N	3.03	M	4.15	T	-0.940	T	0.013	T	0.4	0.667	7.574	-2.21	-0.321	0.130	6.926	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4524	58619.68	400	chr2	94876674	.	G	A	58619.68	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-6.968e+00;DP=8442;ExcessHet=36.0830;FS=0.632;InbreedingCoeff=-0.8261;MLEAC=19;MLEAF=0.452;MQ=56.55;MQRankSum=-2.055e+01;QD=7.10;ReadPosRankSum=4.91;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:381,44:425:99:0|1:94876670_C_T:701,0,15733:94876670	2	0	19	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C	.	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.572	P	0.148	B	0.002	N	1.000	D	1.87	L	4.11	T	-0.879	T	0.010	T	0.568	2.034	12.76	2.43	1.049	0.890	10.548	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.4048	26857.9	353	chr2	94876731	.	C	T	26857.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.609e+00;DP=7291;ExcessHet=25.1139;FS=3.279;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=57.21;MQRankSum=-2.034e+01;QD=3.85;ReadPosRankSum=-1.165e+00;SOR=0.996	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:372,37:409:99:0|1:94876731_C_T:414,0,15180:94876731	4	0	17	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T	.	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	1.0	D	0.000	D	1.000	D	2.125	M	4.16	T	-1.119	T	0.028	T	0.662	3.703	18.81	2.43	1.049	3.135	10.548	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	9909.42	357	chr2	94876737	.	C	A	9909.42	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.994e+00;DP=5582;ExcessHet=9.6308;FS=1.817;InbreedingCoeff=-0.4000;MLEAC=12;MLEAF=0.286;MQ=56.98;MQRankSum=-1.456e+01;QD=2.02;ReadPosRankSum=-2.106e+00;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:363,36:399:99:0|1:94876731_C_T:419,0,14992:94876731	9	0	12	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P	.	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.125	B	0.085	B	0.131	N	1.000	N	2.43	M	4.2	T	-0.996	T	0.012	T	0.464	1.473	10.87	1.2	0.866	-1.017	2.624	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	10071.42	352	chr2	94876740	.	A	C	10071.42	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-1.875e+00;DP=5568;ExcessHet=9.6308;FS=1.912;InbreedingCoeff=-0.4000;MLEAC=12;MLEAF=0.286;MQ=57.10;MQRankSum=-1.500e+01;QD=2.08;ReadPosRankSum=-2.492e+00;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:358,36:394:99:0|1:94876731_C_T:434,0,14868:94876731	9	0	12	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S,	.	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	.	.	.	.	.	.	1.000	N	1.32	L	2.56	T	-0.945	T	0.020	T	0.057	1.140	9.645	-5.28	-1.321	0.150	0.771	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5	31056.74	205	chr2	95855390	.	T	C	31056.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.80;DP=5080;ExcessHet=54.0936;FS=20.631;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.44;MQRankSum=-1.119e+01;QD=6.32;ReadPosRankSum=-6.536e+00;SOR=2.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:192,72:264:99:.:.:1517,0,5328	0	0	21	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H,	.	.	432	686	404	0	0	404	0.227477	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	.	.	.	.	.	.	1.000	N	0.235	N	2.59	T	-0.942	T	0.018	T	0.062	0.675	7.614	-0.833	0.028	1.770	6.110	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7228.38	236	chr2	95855406	.	C	G	7228.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=1.43;DP=5612;ExcessHet=17.4423;FS=6.424;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=53.45;MQRankSum=-6.363e+00;QD=1.79;ReadPosRankSum=-3.638e+00;SOR=1.400	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:267,34:301:93:.:.:93,0,7651	6	0	15	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S,	.	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	.	.	1.000	N	-0.55	N	2.62	T	-0.930	T	0.011	T	0.014	-2.217	0.005	-0.838	-0.224	0.602	6.069	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5	75221.74	386	chr2	95855549	.	T	C	75221.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.304e+00;DP=7464;ExcessHet=54.0936;FS=12.010;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=44.23;MQRankSum=-1.248e+01;QD=10.32;ReadPosRankSum=0.574;SOR=1.209	GT:AD:DP:GQ:PL	0/1:221,204:425:99:4729,0,5939	0	0	21	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T,	.	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	.	.	.	.	.	.	1.000	N	1.175	L	2.41	T	-1.026	T	0.039	T	0.224	1.957	12.50	2.11	1.218	0.837	8.115	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	63179.74	326	chr2	95855576	.	A	G	63179.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.434e+00;DP=6464;ExcessHet=54.0936;FS=27.969;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=46.08;MQRankSum=-1.255e+01;QD=10.07;ReadPosRankSum=-2.075e+00;SOR=1.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:234,138:372:99:.:.:3843,0,6465	0	0	21	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V,	.	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	.	.	.	.	.	.	1.000	N	0.625	N	2.59	T	-0.961	T	0.019	T	0.071	-0.386	2.186	-2.48	-0.579	0.734	3.442	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8954.51	309	chr2	95855586	.	T	C	8954.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=0.765;DP=6041;ExcessHet=30.0624;FS=14.124;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=46.89;MQRankSum=-6.696e+00;QD=1.78;ReadPosRankSum=-2.125e+00;SOR=2.133	GT:AD:DP:GQ:PL	0/1:289,54:343:99:707,0,11082	3	0	18	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R,	.	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	.	.	.	.	.	.	1.000	N	0.67	N	2.4	T	-0.978	T	0.023	T	0.059	-0.264	2.731	0.82	0.218	1.729	2.541	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.5	49926.74	306	chr2	95855588	.	T	C	49926.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.094e+00;DP=5999;ExcessHet=54.0936;FS=32.611;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=47.18;MQRankSum=-1.171e+01;QD=8.52;ReadPosRankSum=-4.041e+00;SOR=2.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:223,111:334:99:.:.:3003,0,6107	0	0	21	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A,	.	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.33	T	-0.992	T	0.020	T	0.208	-0.096	3.531	1.85	1.110	0.669	7.648	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.3333	5668.45	83	chr2	95859895	.	T	C	5668.45	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.500e-02;DP=1947;ExcessHet=14.4320;FS=1.573;InbreedingCoeff=-0.4994;MLEAC=14;MLEAF=0.333;MQ=58.17;MQRankSum=-2.110e+00;QD=4.01;ReadPosRankSum=0.759;SOR=0.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:102,25:127:99:.:.:631,0,4202	7	0	14	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4,	.	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28198.39	155	chr2	95859969	.	A	AT	28198.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.047e+00;DP=3277;ExcessHet=43.6797;FS=2.014;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.97;MQRankSum=-9.329e+00;QD=8.84;ReadPosRankSum=0.032;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,58:200:99:0|1:95859969_A_AT:1988,0,5736:95859969	1	0	20	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M,	.	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.053	B	0.021	B	.	.	0.994	N	-1.7	N	2.42	T	-0.981	T	0.008	T	0.245	-3.330	0.001	-3.7	-1.374	-0.833	3.712	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	28168.43	155	chr2	95859970	.	G	T	28168.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.065;DP=3274;ExcessHet=43.6797;FS=2.014;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.99;MQRankSum=-9.404e+00;QD=8.80;ReadPosRankSum=0.078;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,58:200:99:0|1:95859969_A_AT:1988,0,5736:95859969	1	0	20	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q,	.	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.055	B	0.007	B	.	.	1.000	N	-1.355	N	2.42	T	-0.947	T	0.010	T	0.097	-0.493	1.736	0.634	0.138	0.540	5.605	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	27722.43	155	chr2	95859975	.	C	T	27722.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.800e-02;DP=3242;ExcessHet=43.6797;FS=2.825;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.97;MQRankSum=-9.484e+00;QD=8.72;ReadPosRankSum=-1.190e-01;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,58:201:99:0|1:95859969_A_AT:2005,0,5758:95859969	1	0	20	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G,	.	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.618	P	0.296	B	.	.	1.000	P	0.345	N	2.35	T	-1.040	T	0.022	T	0.211	-0.948	0.346	1.85	1.110	0.027	3.593	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	24477.43	159	chr2	95859988	.	T	C	24477.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.265;DP=3203;ExcessHet=43.6797;FS=2.880;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.88;MQRankSum=-9.614e+00;QD=7.83;ReadPosRankSum=-7.870e-01;SOR=0.923	GT:AD:DP:GQ:PL	0/1:138,57:195:99:1873,0,3603	1	0	20	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L,	.	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.898	P	0.775	P	.	.	1.000	P	1.965	M	2.2	T	-0.998	T	0.066	T	0.49	0.033	4.184	-0.873	-0.207	1.019	2.065	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	17994.43	154	chr2	95860002	.	T	A	17994.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.989;DP=3061;ExcessHet=43.6797;FS=3.053;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.84;MQRankSum=-9.029e+00;QD=6.03;ReadPosRankSum=-1.082e+00;SOR=0.963	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:144,39:183:99:.:.:606,0,5629	1	0	20	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E,	.	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.886	P	0.685	P	.	.	1.000	P	1.1	L	2.36	T	-1.031	T	0.037	T	0.093	0.511	6.772	0.608	0.161	0.077	4.768	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	21658.43	153	chr2	95860007	.	A	T	21658.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.16;DP=2998;ExcessHet=43.6797;FS=3.057;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.82;MQRankSum=-8.906e+00;QD=7.38;ReadPosRankSum=-1.059e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:132,49:181:99:.:.:1659,0,5306	1	0	20	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I,	.	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.0	B	0.0	B	.	.	1.000	P	-1.385	N	2.38	T	-0.937	T	0.010	T	0.175	-3.138	0.001	0.635	0.138	3.039	5.605	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	18382.43	145	chr2	95860020	.	G	A	18382.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.556;DP=2780;ExcessHet=43.6797;FS=4.214;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.76;MQRankSum=-8.652e+00;QD=6.86;ReadPosRankSum=-1.267e+00;SOR=1.096	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,45:161:99:0|1:95860020_G_A:1539,0,4673:95860020	1	0	20	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X,	.	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	.	.	.	.	.	.	0.000	P	.	.	.	.	.	.	.	.	.	15.302	49	-0.698	-0.207	0.666	5.748	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	17446.43	144	chr2	95860023	.	A	C	17446.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.97;DP=2699;ExcessHet=43.6797;FS=5.438;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.71;MQRankSum=-8.809e+00;QD=6.58;ReadPosRankSum=-1.356e+00;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,46:162:99:0|1:95860020_G_A:1561,0,4670:95860020	1	0	20	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N,	.	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	P	-1.59	N	2.33	T	-0.964	T	0.008	T	0.055	-3.899	0.001	-2.51	-0.641	0.852	0.839	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	11608.43	114	chr2	95860046	.	C	A	11608.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.094;DP=2166;ExcessHet=43.6797;FS=7.428;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.39;MQRankSum=-9.225e+00;QD=5.60;ReadPosRankSum=-1.053e+00;SOR=1.366	GT:AD:DP:GQ:PL	0/1:96,27:123:99:810,0,2590	1	0	20	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24,	.	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	19293.39	162	chr2	95927222	.	G	GAT	19293.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=2.91;DP=3244;ExcessHet=43.6797;FS=41.935;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.80;MQRankSum=-9.777e+00;QD=6.04;ReadPosRankSum=-5.428e+00;SOR=4.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,37:177:99:0|1:95927222_G_GAT:1132,0,5757:95927222	1	0	20	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18,	.	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28849.39	181	chr2	95927226	.	GTT	G	28849.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=3.24;DP=3663;ExcessHet=43.6797;FS=12.728;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.66;MQRankSum=-1.068e+01;QD=7.97;ReadPosRankSum=-5.292e+00;SOR=1.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,47:199:99:0|1:95927222_G_GAT:1516,0,6231:95927222	1	0	20	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G,	.	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	N	2.045	M	-1.11	T	-0.526	T	0.427	T	0.17	0.495	6.683	0.578	0.482	1.675	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	39187.43	200	chr2	95927234	.	T	C	39187.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.176e+00;DP=4058;ExcessHet=43.6797;FS=7.313;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.37;MQRankSum=-1.145e+01;QD=9.76;ReadPosRankSum=-5.766e+00;SOR=1.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,64:220:99:0|1:95927222_G_GAT:2218,0,6358:95927222	1	0	20	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T,	.	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	.	.	.	.	.	.	1.000	N	2.175	M	-1.08	T	-0.803	T	0.326	T	0.253	0.721	7.838	-1.16	-0.580	0.588	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	71909.43	290	chr2	95927252	.	A	G	71909.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-5.880e-01;DP=5309;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.50;MQRankSum=-1.377e+01;QD=13.66;ReadPosRankSum=-5.061e+00;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,106:278:99:0|1:95927222_G_GAT:3933,0,6903:95927222	1	0	20	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y,	.	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	2.175	M	-1.1	T	-0.487	T	0.446	T	0.443	1.148	9.675	0.578	0.573	0.559	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	99348.43	354	chr2	95927268	.	C	A	99348.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-5.669e+00;DP=6340;ExcessHet=43.6797;FS=3.258;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=52.67;MQRankSum=-1.545e+01;QD=15.78;ReadPosRankSum=-3.350e+00;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,153:339:99:0|1:95927222_G_GAT:5804,0,7345:95927222	1	0	20	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N,	.	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	P	2.135	M	-1.07	T	-0.030	T	0.463	T	0.042	2.046	12.80	0.578	0.573	1.620	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	100976.43	370	chr2	95927277	.	C	T	100976.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-6.195e+00;DP=6692;ExcessHet=43.6797;FS=2.488;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=52.63;MQRankSum=-1.581e+01;QD=15.46;ReadPosRankSum=-7.660e-01;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,162:352:99:0|1:95927222_G_GAT:5987,0,7373:95927222	1	0	20	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G,	.	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	P	.	.	-1.41	T	-0.324	T	0.401	T	0.195	1.779	11.91	0.871	0.621	1.851	3.983	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	41574.43	202	chr2	95929092	.	T	C	41574.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.846;DP=3927;ExcessHet=43.6797;FS=3.785;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=47.18;MQRankSum=-9.680e+00;QD=10.76;ReadPosRankSum=-3.033e+00;SOR=1.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,55:206:99:0|1:95929092_T_C:1822,0,5999:95929092	1	0	20	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T,	.	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	N	.	.	-1.17	T	-0.746	T	0.297	T	0.219	0.645	7.463	-0.637	-0.224	0.734	2.815	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	51819.43	236	chr2	95929110	.	A	G	51819.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=9.99;DP=4508;ExcessHet=43.6797;FS=8.254;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=45.41;MQRankSum=-9.797e+00;QD=11.60;ReadPosRankSum=-2.111e+00;SOR=1.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,73:238:99:0|1:95929092_T_C:2569,0,6684:95929092	1	0	20	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y,	.	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	1.000	N	.	.	-0.96	T	-0.705	T	0.302	T	0.375	1.013	9.136	0.871	0.742	0.666	5.051	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	67411.43	272	chr2	95929126	.	C	A	67411.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=3.03;DP=5235;ExcessHet=43.6797;FS=15.425;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=44.20;MQRankSum=-1.062e+01;QD=12.98;ReadPosRankSum=-1.058e+00;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,93:278:99:0|1:95929092_T_C:3348,0,7488:95929092	1	0	20	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E,	.	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	-0.99	T	-0.983	T	0.120	T	0.057	0.583	7.149	-0.054	-0.059	0.169	4.774	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	71752.43	282	chr2	95929130	.	G	C	71752.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=5.49;DP=5406;ExcessHet=43.6797;FS=17.088;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=43.89;MQRankSum=-1.053e+01;QD=13.38;ReadPosRankSum=-8.420e-01;SOR=1.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,99:284:99:0|1:95929092_T_C:3600,0,7470:95929092	1	0	20	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N,	.	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	.	.	.	.	.	.	1.000	N	.	.	-1.0	T	-0.975	T	0.178	T	0.032	1.786	11.93	-0.087	-0.070	0.689	3.151	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	75077.43	291	chr2	95929135	.	C	T	75077.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=6.83;DP=5658;ExcessHet=43.6797;FS=16.868;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=43.43;MQRankSum=-1.046e+01;QD=13.67;ReadPosRankSum=-5.410e-01;SOR=1.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,109:297:99:0|1:95929092_T_C:3931,0,7464:95929092	1	0	20	0
chr2	95935513	95935513	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon24:c.A1676G:p.E559G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	N	.	.	-1.01	T	-0.738	T	0.302	T	0.165	0.650	7.488	-0.475	-0.150	0.438	2.894	0.140	0.00585696595162	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1469992917	0	3.899e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.572e-06	0.0008	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.037	0.51737	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.01	0.76168	T	-1.23	0.31170	N	0.064	0.03613	-0.7380	0.58555	T	0.302	0.67270	T	6	0.08810061	0.15139	T	0.005857	0.15251	T	0.140	0.37593	0.09	0.01023	0.400756358115	0.39691	0.009955425089387095	0.00957	.	.	.	.	.	0.008014	0.07373	T	-0.101221	0.36222	T	-0.383173	0.35351	T	0.0671235467810128	0.08241	T	0.256474	0.04006	T	0.05429329	0.10395	0.05104347	0.08136	0.05429329	0.10395	0.05104347	0.08135	-4.443	0.30136	T	.	.	0.179	0.39081	B	.	.	2.409138	0.30961	18.60	0.97634589533471039	0.35040	0.00238	0.01325	N	AEFGI	0.027612	0.02287	N	-0.768067868878245	0.14148	0.7023926	-1.01064641307123	0.09551	0.4758001	3.88709385771713E-5	0.03775	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	0.967	-0.475	0.11501	0.413000	0.20869	-0.216000	0.10808	0.319000	0.19345	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5785:0.0:0.0:0.4215	2.894	0.05335	253	0.90069	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	269.98	119	chr2	95935513	.	T	C	269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.357e+00;DP=1864;ExcessHet=0.0000;FS=2.511;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.01;MQRankSum=-4.002e+00;QD=2.70;ReadPosRankSum=1.82;SOR=0.405	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,13:100:99:0|1:95935513_T_C:284,0,3579:95935513	20	0	1	0
chr2	95935514	95935514	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon24:c.G1675A:p.E559K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	.	.	.	.	.	.	1.000	N	.	.	-0.91	T	-0.960	T	0.183	T	0.128	-1.469	0.018	-1.17	-0.520	0.308	3.944	0.118	0.00397110332458	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338337164	0	4.036e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.572e-06	0.0008	1.287e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.358	0.11994	T	0.035	0.52389	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.91	0.75001	T	-0.77	0.21429	N	0.089	0.06720	-0.9604	0.39106	T	0.183	0.53179	T	6	0.07079291	0.10347	T	0.003971	0.09400	T	0.118	0.32913	0.146	0.04941	0.204665344411	0.20097	0.017772539031449545	0.01732	.	.	.	.	.	0.005847	0.05296	T	-0.178901	0.23900	T	-0.494755	0.22893	T	0.0322858666561489	0.02352	T	0.380262	0.09172	T	0.039784376	0.05556	0.040323198	0.04332	0.039784376	0.05556	0.040323198	0.04332	-3.942	0.22933	T	.	.	0.195	0.41557	B	.	.	0.404989	0.07760	4.445	0.26374342797202815	0.01260	0.00096	0.00628	N	AEFGI	0.020597	0.00829	N	-0.888716651160662	0.11110	0.5344097	-1.13048874623997	0.07123	0.3453139	5.37430573471838E-5	0.04171	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	0.967	-1.17	0.09152	-0.014000	0.12594	-2.601000	0.03561	0.290000	0.18761	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4722:0.0:0.5278	3.944	0.08838	253	0.90069	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	269.98	119	chr2	95935514	.	C	T	269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.912e+00;DP=1865;ExcessHet=0.0000;FS=2.511;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.08;MQRankSum=-4.002e+00;QD=2.70;ReadPosRankSum=1.85;SOR=0.405	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,13:100:99:0|1:95935513_T_C:284,0,3579:95935513	20	0	1	0
chr2	96842402	96842402	C	T	exonic	ANKRD23	.	nonsynonymous SNV	ANKRD23:NM_144994:exon2:c.G137A:p.R46Q,	.	.	375	1121	24	2	0	28	0.0123348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.003	B	0.001	B	0.866	N	0.984	D	0.46	N	-0.08	T	-1.074	T	0.079	T	0.057	0.799	8.206	-6.83	-1.283	-1.378	6.77	0.033	0.0136136329658	0.0044	0.00319489	0.0043	0.0018	0.0029	0.0016	0.0005	0.0052	0.0033	0.0064	0.0010673	165	154602	rs143372458	0.0053	0.0053	0.0052	0.0055	0.0336	0.0052	0.0052	0.0298	0.0283	0.0034	0.0040	0.0056	0.0012	0.0009	0.0336	0.0055	0.0061	0.0065	0.0047	0.0047	0.0049	0.0046	0.0071	0.0044	0.0043	0.0066	0.0064	0.0015	0.0351	0.0035	0.0058	0.0014	0.0005	0.0442	0.0071	0.0062	0.0052	0.298	0.14894	T	0.508	0.10893	T	0.003	0.11197	B	0.001	0.04355	B	0.866014	0.08859	N	0.907894	0.999879	0.19925	N	1.525	0.38595	L	-0.29	0.67712	T	0.28	0.05503	N	0.113	0.21449	-1.0743	0.08493	T	0.079	0.31466	T	10	0.004486352	0.00092	T	0.013614	0.33144	T	0.033	0.08068	.	.	0.384252928164	0.38032	0.11811522296144829	0.11738	0.174969425487	0.19695	0.191902413964	0.00260	T	0.011947	0.10582	T	-0.598926	0.00148	T	-0.630342	0.10389	T	0.00180462947194861	0.00018	T	0.49795	0.15494	T	0.025929948	0.01587	0.0338767	0.02356	0.025929948	0.01586	0.0338767	0.02356	-2.884	0.12776	T	.	.	0.093	0.15115	B	.;.;.	.;.;.	-0.280197	0.02706	0.354	0.82545391951555647	0.14248	0.03294	0.08346	N	AEFBCI	0.036542	0.04886	N	-1.64690095529547	0.01048	0.04547421	-1.63492810835428	0.01456	0.0658473	0.999567174860757	0.40425	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	5.07	-6.83	0.01532	-1.346000	0.02741	-3.498000	0.02741	-1.699000	0.00759	0.090000	0.22578	0.000000	0.08366	0.103000	0.18424	0.2379:0.1705:0.0:0.5916	6.77	0.22775	120	0.95183	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2305.11	41	chr2	96842402	.	C	T	2305.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.09;DP=960;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=0.998;SOR=0.714	GT:AD:DP:GQ:PL	0/1:53,45:98:99:1034,0,1319	19	0	2	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V,	.	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	66907.47	297	chr2	97513220	.	G	A	66907.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-8.080e-01;DP=4067;ExcessHet=51.1880;FS=3.353;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=36.93;MQRankSum=-3.978e+00;QD=16.47;ReadPosRankSum=0.728;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,94:174:99:0|1:97513219_T_C:3706,0,3076:97513219	0	0	20	1
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E,	.	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	72691.47	317	chr2	97513227	.	T	C	72691.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.090e-01;DP=4346;ExcessHet=51.1880;FS=3.354;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.18;MQRankSum=-4.153e+00;QD=17.02;ReadPosRankSum=0.711;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,101:184:99:0|1:97513219_T_C:3932,0,3174:97513219	0	0	20	1
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q,	.	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	88962.47	372	chr2	97513244	.	G	T	88962.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.332e+00;DP=4960;ExcessHet=51.1880;FS=2.480;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.54;MQRankSum=-4.334e+00;QD=17.98;ReadPosRankSum=0.505;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,116:205:99:0|1:97513244_G_T:4603,0,3344:97513244	0	0	20	1
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A,	.	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	94248.47	391	chr2	97513253	.	A	G	94248.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.477e+00;DP=5204;ExcessHet=51.1880;FS=3.201;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.63;MQRankSum=-4.517e+00;QD=18.31;ReadPosRankSum=-7.500e-02;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:90,117:218:99:.:.:4840,0,3373	0	0	20	1
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M,	.	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	94578.47	389	chr2	97513254	.	C	T	94578.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.107e+00;DP=5218;ExcessHet=51.1880;FS=3.233;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.64;MQRankSum=-4.596e+00;QD=18.37;ReadPosRankSum=8.000e-03;SOR=0.948	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,129:219:99:0|1:97513244_G_T:5139,0,3371:97513244	0	0	20	1
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K,	.	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	103442.47	407	chr2	97513268	.	C	T	103442.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-9.430e-01;DP=5451;ExcessHet=51.1880;FS=3.211;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.99;MQRankSum=-5.011e+00;QD=19.09;ReadPosRankSum=-6.100e-01;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,142:239:99:0|1:97513268_C_T:5671,0,3625:97513268	0	0	20	1
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X,	.	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	89883.47	410	chr2	97513270	.	A	C	89883.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-5.910e-01;DP=5493;ExcessHet=51.1880;FS=3.209;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.11;MQRankSum=-4.823e+00;QD=16.38;ReadPosRankSum=-7.770e-01;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,144:241:99:0|1:97513268_C_T:5739,0,3619:97513268	0	0	20	1
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C,	.	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	104689.47	413	chr2	97513271	.	T	C	104689.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-5.750e-01;DP=5492;ExcessHet=51.1880;FS=3.187;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.14;MQRankSum=-5.077e+00;QD=19.08;ReadPosRankSum=-6.500e-01;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,144:241:99:0|1:97513268_C_T:5739,0,3619:97513268	0	0	20	1
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K,	.	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	105794.47	411	chr2	97513281	.	C	T	105794.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.198e+00;DP=5582;ExcessHet=51.1880;FS=2.445;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.48;MQRankSum=-5.580e+00;QD=19.09;ReadPosRankSum=-8.110e-01;SOR=0.890	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,149:243:99:0|1:97513268_C_T:5836,0,3499:97513268	0	0	20	1
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M,	.	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	27196.47	224	chr2	97513354	.	T	C	27196.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=1.66;DP=3353;ExcessHet=51.1880;FS=1.191;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=39.44;MQRankSum=-3.474e+00;QD=8.44;ReadPosRankSum=0.663;SOR=0.624	GT:AD:DP:GQ:PL	0/1:76,58:134:99:1237,0,1742	0	0	20	1
chr2	104855597	104855597	T	0	exonic	POU3F3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	4762.41	11	chr2	104855597	.	T	C,*	4762.41	.	AC=25,1;AF=0.658,0.026;AN=38;BaseQRankSum=-6.230e-01;DP=340;ExcessHet=0.0665;FS=7.060;InbreedingCoeff=0.2714;MLEAC=26,1;MLEAF=0.684,0.026;MQ=60.00;MQRankSum=0.00;QD=16.71;ReadPosRankSum=0.298;SOR=0.767	GT:AD:DP:GQ:PL	1/1:0,5,0:5:15:132,15,0,132,15,132	3	9	6	2
chr2	107838873	107838873	G	T	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon4:c.G314T:p.C105F,	.	.	354	1158	9	1	0	11	0.00472712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.91	P	0.374	B	.	.	0.816	N	2.005	M	1.29	T	-0.943	T	0.075	T	0.368	0.660	7.539	2.48	1.379	6.456	11.902	0.203	.	0.0064	.	0.0083	0.0012	0.0032	0.0001	0.0002	0.0135	0.0072	0.0051	0.0004226	11	26028	rs201257819	0.0068	0.0076	0.0068	0.0067	0.0113	0.0066	0.0066	0.0084	0.0076	0.0016	0.0026	0.0054	2.689e-05	0.0006	0.0113	0.0078	0.0064	0.0041	0.0009	0.0037	0.0009	0.0008	0.0014	0.0007	0.0006	0.0011	0.0010	0.0004	0	0.0003	0.0006	0	0.0004	0.0085	0.0014	0.0011	0	0.003	0.68238	D	0.1	0.38742	T	0.91	0.50240	P	0.374	0.43683	B	.	.	.	.	0.815926	0.28943	N	1.795	0.47270	L	1.29	0.35775	T	-5.66	0.87063	D	0.756	0.75466	-0.9425	0.42218	T	0.075	0.30303	T	9	0.013834447	0.00292	T	.	.	.	0.203	0.48915	.	.	0.26547132957	0.26150	0.055147581009005346	0.05455	.	.	0.735643208027	0.72332	T	0.129151	0.45725	T	-0.41153	0.01941	T	-0.360603	0.37984	T	0.0675463819058475	0.08302	T	0.922608	0.71859	D	0.68219423	0.77088	0.79595137	0.88016	0.68219423	0.77089	0.79595137	0.88017	-3.589	0.17698	T	.	.	0.385	0.58733	A	.	.	4.411628	0.68252	25.2	0.91849717677320597	0.21162	0.80262	0.39946	D	AEFI	0.401190	0.47578	N	0.157169927235108	0.49153	3.118827	0.0835817840959671	0.43722	2.66822	2.53260807916806E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.48	2.48	0.29194	6.634000	0.74149	11.785000	0.96215	0.309000	0.19094	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	11.902	0.51974	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	391.98	47	chr2	107838873	.	G	T	391.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.340e-01;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=27.96;MQRankSum=-5.420e-01;QD=8.17;ReadPosRankSum=1.50;SOR=0.680	GT:AD:DP:GQ:PL	0/1:27,21:48:99:406,0,550	20	0	1	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	55301.27	201	chr2	108259015	.	G	T,*	55301.27	.	AC=18,12;AF=0.429,0.286;AN=42;BaseQRankSum=2.01;DP=3832;ExcessHet=0.0944;FS=0.000;InbreedingCoeff=0.3000;MLEAC=18,12;MLEAF=0.429,0.286;MQ=60.00;MQRankSum=0.00;QD=15.51;ReadPosRankSum=-1.780e-01;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,252,0:253:99:.:.:7945,749,0,7948,756,7955	3	5	3	0
chr2	109615372	109615372	G	C	exonic	SOWAHC	.	nonsynonymous SNV	SOWAHC:NM_023016:exon1:c.G883C:p.V295L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.0	B	0.003	B	0.391	N	0.999	N	0.665	N	-0.46	T	-1.020	T	0.124	T	0.109	0.345	5.873	1.25	0.124	-0.102	5.221	0.046	0.0321532723157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457	0.08813	T	0.81	0.03945	T	0.0	0.02946	B	0.003	0.08700	B	0.390621	0.13260	N	0.673875	0.999496	0.21100	N	0.885	0.21608	L	-0.46	0.70014	T	-0.45	0.14782	N	0.052	0.02366	-1.0201	0.23682	T	0.124	0.42862	T	10	0.039845437	0.02505	T	0.032153	0.54058	D	0.046	0.12618	0.376	0.38994	0.117506650769	0.11410	0.2759558592074775	0.27508	.	.	0.389648318291	0.23620	T	0.004975	0.04396	T	-0.190219	0.22226	T	-0.511013	0.21210	T	0.0227400045841932	0.00993	T	0.576042	0.20701	T	0.057212465	0.11356	0.036430426	0.03089	0.057212465	0.11356	0.036430426	0.03089	-2.993	0.10106	T	.	.	0.100	0.17016	B	.	.	0.727846	0.10969	7.633	0.74783274851863524	0.10825	0.17298	0.19776	N	AEFDGBCI	0.184798	0.31212	N	-0.995158984346343	0.08706	0.4092657	-0.908716342160993	0.11888	0.6083993	0.999999998190183	0.74766	0.72623	0.87236	0	0.586065	0.33999	0	0.594344	0.31042	0	0.627883	0.49187	0	.	.	4.22	1.25	0.20475	-0.165000	0.09957	0.769000	0.21380	-0.227000	0.07798	0.001000	0.13787	0.913000	0.28170	0.374000	0.26200	0.162:0.0:0.3902:0.4478	5.221	0.14691	860	0.33753	Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1867.98	36	chr2	109615372	.	G	C	1867.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.790e-01;DP=932;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=1.21;SOR=0.677	GT:AD:DP:GQ:PL	0/1:74,78:152:99:1882,0,1876	20	0	1	0
chr2	110963643	110963643	G	A	exonic	ACOXL	.	nonsynonymous SNV	ACOXL:NM_001371254:exon13:c.G1079A:p.R360Q,	.	.	442	1059	21	0	0	21	0.00981767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.956	P	0.727	P	0.000	N	1.000	D	.	.	-0.49	T	-0.524	T	0.353	T	0.212	3.510	17.94	3.71	0.701	0.936	10.345	0.015	0.0508755829006	0.0015	0.000599042	0.0040	0.0002	0.0009	0	0.0062	0.0043	0.0055	0.0085	0.0035252	545	154602	rs139505303	0.0026	0.0026	0.0023	0.0029	0.0084	0.0026	0.0025	0.0079	0.0077	0.0002	0.0010	0.0298	0.0001	0.0074	0.0061	0.0015	0.0042	0.0084	0.0027	0.0027	0.0027	0.0028	0.0082	0.0025	0.0024	0.0061	0.0054	0.0005	0	0.0010	0.0277	0.0002	0.0061	0	0.0025	0.0047	0.0082	0.006	0.61437	D	0.168	0.30631	T	0.956	0.54666	P	0.727	0.55167	P	0.000411	0.44736	N	0.090426	0.999637	0.47961	D	.	.	.	-0.49	0.70365	T	-2.67	0.57110	D	0.393	0.43417	-0.5241	0.67763	T	0.353	0.71658	T	9	0.01575613	0.00331	T	0.050876	0.64425	D	0.424	0.73226	.	.	0.711869458959	0.70935	.	.	.	.	.	.	.	0.319685	0.69095	T	-0.430201	0.01478	T	-0.38504	0.35133	T	0.0545219980913479	0.06277	T	0.733627	0.34942	T	0.14852482	0.33903	0.17239508	0.39491	0.14852482	0.33903	0.17239508	0.39490	-10.485	0.76761	D	.	.	0.152	0.33687	B	.	.	1.055996	0.14373	10.95	0.99910469386507339	0.98022	0.36896	0.25638	N	AEFBI	0.074308	0.14891	N	-0.0684011976285561	0.38785	2.276946	-0.105230951388771	0.35180	2.032186	0.682221993288881	0.22493	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.5	3.71	0.41733	0.981000	0.29124	0.069000	0.14235	-0.716000	0.03877	0.710000	0.28722	0.000000	0.08366	0.599000	0.31363	0.1615:0.0:0.8385:0.0	10.345	0.43086	699	0.57969	Acyl-CoA dehydrogenase/oxidase C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1260.98	40	chr2	110963643	.	G	A	1260.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.630e-01;DP=891;ExcessHet=0.0000;FS=10.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=0.669;SOR=0.299	GT:AD:DP:GQ:PL	0/1:59,55:114:99:1275,0,1350	20	0	1	0
chr2	113499665	113499665	A	T	exonic	FOXD4L1	.	nonsynonymous SNV	FOXD4L1:NM_012184:exon1:c.A409T:p.I137F,	.	.	44	1470	8	0	0	8	0.0027137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.004	U	1.000	D	2.565	M	-4.32	D	0.850	D	0.904	D	0.551	3.932	20.1	2.57	1.190	8.575	8.653	0.803	.	0.0017	.	0.0019	0.0077	0.0006	0.0138	0	0.0002	0.0011	0.0006	3.84e-05	1	26028	rs146009388	0.0002	0.0018	0.0002	0.0002	0.0052	0.0002	0.0002	0.0045	0.0043	0.0052	0.0003	7.673e-05	0.0012	0	0.0007	3.33e-05	0.0007	0.0003	0.0001	0.0007	0.0001	0.0002	0.0006	9.465e-05	7.887e-05	0.0002	0.0002	0.0004	0	0	0	0.0006	0	0	2.972e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.004022	0.34196	U	0.000000	1	0.81001	D	2.585	0.75554	M	-4.32	0.97218	D	-3.99	0.73893	D	0.651	0.66187	0.850	0.95031	D	0.904	0.96812	D	10	0.030663997	0.01195	T	.	.	.	0.803	0.93582	.	.	0.995984178291	0.99593	0.5104773059824431	0.50969	.	.	0.823074102402	0.85500	D	0.469011	0.80271	T	-0.047313	0.44854	T	0.155897	0.80554	D	0.104640679583574	0.12859	T	0.977702	0.92108	D	0.9487797	0.96142	0.93180746	0.97219	0.9487797	0.96142	0.93180746	0.97219	-14.975	0.95793	D	.	.	0.949	0.86783	P	.	.	5.393143	0.90339	31	0.98898733811997108	0.48145	0.97263	0.73660	D	AEFBHI	0.714513	0.66697	D	0.558385490242087	0.70593	5.524516	0.430113875637802	0.63450	4.578927	0.0140351200148914	0.12544	0.59774	0.34471	0	0.547309	0.14657	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	2.57	2.57	0.29928	8.637000	0.90778	10.723000	0.83627	0.351000	0.19951	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	1.0:0.0:0.0:0.0	8.653	0.33208	546	0.72524	Fork head domain|Fork head domain|Fork head domain|Fork head domain|Fork head domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	111.98	34	chr2	113499665	.	A	T	111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.311e+00;DP=1624;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.15;MQRankSum=-3.995e+00;QD=0.39;ReadPosRankSum=2.58;SOR=0.646	GT:AD:DP:GQ:PL	0/1:248,40:288:99:126,0,6134	20	0	1	0
chr2	113719262	113719262	A	C	exonic	SLC35F5	.	nonsynonymous SNV	SLC35F5:NM_001330314:exon14:c.T1370G:p.F457C	.	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.41	B	0.257	B	0.000	D	1.000	D	0.55	N	0.9	T	-1.094	T	0.044	T	0.422	3.530	18.02	5.59	2.124	9.079	15.765	0.230	.	0.0038	0.00399361	0.0014	0.0091	0.0030	0	0	0.0006	0.0023	0	0.0012354	191	154602	rs146995908	0.0007	0.0007	0.0007	0.0006	0.0121	0.0006	0.0006	0.0111	0.0107	0.0121	0.0033	0.0042	0	0	0.0029	0.0002	0.0021	1.197e-05	0.0038	0.0039	0.0039	0.0038	0.0114	0.0036	0.0035	0.0106	0.0102	0.0114	0	0.0042	0.0023	0	0	0.0068	0.0004	0.0057	0	0.013	0.53900	D	0.066	0.44501	T	0.41	0.35064	B	0.257	0.39298	B	0.000136	0.49741	D	0.139354	0.999759	0.48800	D	0.55	0.14455	N	0.9	0.45248	T	-1.34	0.33401	N	0.703	0.70702	-1.0944	0.04839	T	0.044	0.18906	T	10	0.009230107	0.00209	T	.	.	.	0.233	0.53499	.	.	0.674874776785	0.67211	0.5800144336966416	0.57930	0.376021169568	0.39046	0.576419830322	0.49582	T	0.023627	0.20648	T	-0.397016	0.02422	T	-0.333668	0.41060	T	0.0380692179423604	0.03345	T	0.808619	0.45852	T	0.13930005	0.32182	0.14959599	0.35314	0.13930005	0.32182	0.14959599	0.35314	-9.645	0.71759	D	.	.	0.074	0.04932	B	.;.	.;.	4.141719	0.62054	24.4	0.98742839769302493	0.45527	0.99605	0.97912	D	AEFBI	0.950480	0.96416	D	0.218598318226088	0.52100	3.386464	0.369016232884326	0.59662	4.145891	0.99999990895671	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.59	5.59	0.84677	9.325000	0.96006	9.214000	0.79255	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.765	0.77890	762	0.50290	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	776.98	33	chr2	113719262	.	A	C	776.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.851;DP=750;ExcessHet=0.0000;FS=1.091;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=0.498;SOR=0.521	GT:AD:DP:GQ:PL	0/1:21,30:51:99:791,0,468	20	0	1	0
chr2	119562095	119562095	A	G	exonic	CFAP221	.	nonsynonymous SNV	CFAP221:NM_001271049:exon6:c.A508G:p.N170D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.006	B	0.005	B	.	.	1.000	N	.	.	1.59	T	-0.979	T	0.030	T	0.088	0.455	6.468	-1.2	-0.091	1.420	9.779	0.045	0.00245808140774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.237e-06	7.525e-06	1.143e-05	2.933e-06	1.264e-05	3.66e-06	2.67e-06	3.19e-06	2.31e-06	0	0	0	0	0	0	7.426e-06	1.729e-05	1.264e-05	6.568e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.807	0.03060	T	0.908	0.03286	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	0.905	0.23240	L	1.59	0.28836	T	-0.2	0.10136	N	0.143	0.14905	-0.9790	0.35231	T	0.030	0.12892	T	8	0.06801224	0.09557	T	0.002458	0.04868	T	0.045	0.12272	.	.	0.0716867268079	0.06686	0.14198583770290552	0.14121	0.0218213112497	0.02180	0.423444211483	0.28311	T	0.006	0.17826	T	-0.29918	0.08738	T	-0.667528	0.07767	T	0.0334779592315054	0.02551	T	0.70113	0.32694	T	0.03857513	0.05166	0.07334665	0.15927	0.03857513	0.05166	0.07334665	0.15927	-6.279	0.48556	T	.	.	0.047	0.00647	B	.;.;.	.;.;.	1.335097	0.17408	13.15	0.85185796213197273	0.15737	0.28258	0.23504	N	AEFGI	0.095570	0.19306	N	-0.582049872545701	0.19490	1.020468	-0.472431153001972	0.22917	1.247126	0.00272683508629376	0.09662	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.25	-1.2	0.09062	1.546000	0.35787	2.449000	0.32805	0.565000	0.28586	0.998000	0.41325	0.927000	0.28453	0.997000	0.79791	0.4293:0.0:0.5707:0.0	9.779	0.39806	869	0.31655	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2193.08	34	chr2	119562095	.	A	G	2193.08	.	AC=2;AF=0.048;AN=42;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.46;SOR=1.002	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2221,216,0	20	1	0	0
chr2	128268395	128268395	G	A	exonic	HS6ST1	.	nonsynonymous SNV	HS6ST1:NM_004807:exon2:c.C1003T:p.R335W,	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	D	0.765	P	0.000	D	1.000	D	1.955	M	-0.98	T	-0.176	T	0.435	T	0.453	4.010	20.6	3.52	2.203	4.312	13.458	0.482	0.185943923533	0.0002	0.000199681	0.0001	0.0001	0	0.0003	0.0002	6.053e-05	0.0011	0.0001	8.41e-05	13	154602	rs373944145	7.528e-05	7.524e-05	8.171e-05	6.878e-05	0.0002	6.384e-05	5.941e-05	6.785e-05	6.284e-05	2.988e-05	2.237e-05	3.827e-05	7.557e-05	9.421e-05	0.0002	8.185e-05	4.969e-05	4.638e-05	4.595e-05	4.593e-05	6.423e-05	2.685e-05	4.811e-05	2.107e-05	1.526e-05	1.171e-05	6.25e-06	4.811e-05	0	0	0	0	0.0002	0	4.409e-05	0	0	0.031	0.45039	D	0.005	0.72224	D	0.997	0.70673	D	0.765	0.56630	P	0.000003	0.62929	D	0.061138	0.999901	0.50806	D	1.3	0.32576	L	-0.98	0.75789	T	-3.94	0.73378	D	0.388	0.42931	-0.1762	0.78276	T	0.435	0.77529	T	9	0.33984923	0.51064	T	0.185944	0.85844	D	0.482	0.77206	.	.	0.670052482717	0.66726	0.7258059656286547	0.72524	.	.	0.400226473808	0.25100	T	0.738386	0.92733	D	-0.1243	0.32423	T	-0.190623	0.55531	T	0.495518565177917	0.32466	T	0.876112	0.58827	D	0.3309961	0.55552	0.26186198	0.51970	0.3309961	0.55552	0.26186198	0.51969	-11.047	0.79915	D	0.21201775948534224	0.28439	0.123	0.25656	B	.	.	4.808738	0.78206	26.9	0.99890164696914774	0.96436	0.94260	0.60603	D	AEFGBI	0.797996	0.72467	D	0.473465521976047	0.65546	4.836101	0.446896946989069	0.64516	4.70877	0.997658021259632	0.35867	0.706298	0.61202	0	0.709663	0.81188	0	0.493711	0.08198	1	0.714379	0.83352	0	.	.	4.48	3.52	0.39415	4.523000	0.60261	7.429000	0.58777	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8428:0.1572	13.458	0.60660	411	0.82069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2974.98	34	chr2	128268395	.	G	A	2974.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=941;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.47;MQRankSum=2.01;QD=12.34;ReadPosRankSum=-5.740e-01;SOR=0.722	GT:AD:DP:GQ:PL	0/1:123,118:241:99:2989,0,3029	20	0	1	0
chr2	130120179	130120179	T	0	exonic	POTEF	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	88519.64	228	chr2	130120179	.	T	C,*	88519.64	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=-4.490e-01;DP=4771;ExcessHet=0.1361;FS=7.097;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=44.81;MQRankSum=-1.564e+01;QD=20.24;ReadPosRankSum=1.33;SOR=1.210	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:160,151,0:311:99:.:.:3581,0,4258,4061,4712,8772	4	10	6	0
chr2	130657279	130657279	G	A	exonic	POTEJ	.	nonsynonymous SNV	POTEJ:NM_001277083:exon15:c.G2519A:p.R840H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	0.982	N	2.985	M	-3.57	D	0.452	D	0.861	D	0.152	1.668	11.54	0.736	0.132	6.561	6.920	0.332	0.00343446669036	.	.	0.0006	0	0	0	0	0.0004	0	0.0011	3.84e-05	1	26028	rs759119194	0.0001	0.0002	0.0001	0.0001	0.0004	0.0001	0.0001	0.0003	0.0002	0	0.0003	0	0.0004	0	0.0002	0.0001	0.0002	0.0002	0.0001	0.0002	5.406e-05	0.0002	0.0004	6.319e-05	5.127e-05	7.594e-05	3.514e-05	8.12e-05	0	6.795e-05	0	0.0002	0	0	0.0001	0.0005	0.0004	0.005	0.63226	D	0.057	0.46406	T	.	.	.	.	.	.	.	.	.	.	0.982429	0.24964	N	2.43	0.70455	M	-3.57	0.94904	D	-3.76	0.71276	D	0.301	0.34012	0.452	0.89867	D	0.861	0.95387	D	7	0.20084238	0.36146	T	0.003434	0.07725	T	0.332	0.65424	.	.	0.522182809586	0.51864	0.13714566336491427	0.13638	.	.	.	.	.	0.588267	0.86622	D	-0.172122	0.24915	T	-0.135587	0.60498	T	0.155782556167183	0.17554	T	0.746125	0.36682	T	0.12615234	0.29556	0.08978622	0.21016	0.12615234	0.29556	0.08978622	0.21015	-7.443	0.57208	T	.	.	0.105	0.19114	B	.	.	1.887185	0.23973	16.22	0.99502387920646362	0.68089	0.65867	0.32882	D	AEFI	0.489445	0.52734	N	-0.170767959699	0.34356	1.959945	-0.396850724001854	0.25090	1.377786	0.00202939160945885	0.09096	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.736	0.736	0.17456	6.898000	0.75496	.	.	0.218000	0.18051	1.000000	0.71638	0.998000	0.33993	0.015000	0.10482	1.0E-4:0.0:0.9999:0.0	6.920	0.23561	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	963.98	68	chr2	130657279	.	G	A	963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.32;DP=1270;ExcessHet=0.0000;FS=1.138;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=29.40;MQRankSum=5.84;QD=16.91;ReadPosRankSum=0.574;SOR=0.498	GT:AD:DP:GQ:PL	0/1:24,33:57:99:978,0,534	20	0	1	0
chr2	132782070	132782070	C	T	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.G4741A:p.G1581S,	.	.	434	1087	1	0	0	1	0.00045977	.	.	2349309	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.196	B	0.012	B	0.829	N	1.000	N	0.345	N	2.98	T	-0.967	T	0.017	T	0.05	-0.349	2.351	3.41	0.703	1.334	7.909	0.030	0.00293836299847	.	.	0.0001	0.0001	8.639e-05	0.0002	0	2.997e-05	0.0022	0.0004	9.7e-05	15	154602	rs760973428	6.431e-05	6.43e-05	3.812e-05	9.077e-05	0.0006	5.362e-05	4.977e-05	0.0004	0.0004	5.974e-05	0.0001	0	0.0001	3.745e-05	0	2.159e-05	0.0001	0.0006	3.943e-05	3.94e-05	2.57e-05	5.38e-05	0.0006	1.715e-05	1.129e-05	0.0002	8.992e-05	4.826e-05	0	0	0	0.0002	0	0	0	0	0.0006	0.254	0.16903	T	0.817	0.03863	T	0.196	0.29532	B	0.012	0.16012	B	0.829203	0.09119	N	0.873109	1	0.19486	N	1.15	0.29295	L	2.98	0.09356	T	-0.7	0.19933	N	0.038	0.02088	-0.9669	0.37834	T	0.017	0.06855	T	10	0.027691096	0.00911	T	0.002938	0.06250	T	0.030	0.07022	0.096	0.01287	0.082315109003	0.07666	0.057400907836167546	0.05681	0.0436608756249	0.04704	0.215401664376	0.01061	T	0.007792	0.07174	T	-0.632494	0.00092	T	-0.775225	0.02601	T	0.0182025957141403	0.00541	T	0.687731	0.29668	T	0.033099946	0.03462	0.045465168	0.06123	0.033099946	0.03461	0.045465168	0.06122	-2.466	0.05553	T	.	.	0.073	0.04640	B	.;.	.;.	0.411886	0.07828	4.522	0.63961440082837462	0.07364	0.26510	0.23014	N	AEFI	0.151781	0.27633	N	-0.767949321795897	0.14150	0.702576	-0.748105950077695	0.15769	0.8309694	0.00119372091143487	0.08324	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.33	3.41	0.38145	1.589000	0.36253	.	.	-0.238000	0.07553	0.347000	0.25734	0.000000	0.08366	0.003000	0.05239	0.0:0.7892:0.0:0.2108	7.909	0.28941	976	0.04745	Nck-associated protein 5, C-terminal;Nck-associated protein 5, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3062.98	72	chr2	132782070	.	C	T	3062.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.77;DP=1523;ExcessHet=0.0000;FS=2.802;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=-1.008e+00;SOR=0.877	GT:AD:DP:GQ:PL	0/1:127,119:246:99:3077,0,2865	20	0	1	0
chr2	140994107	140994107	T	C	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon16:c.A2532G:p.I844M,	.	.	427	1063	30	2	0	34	0.0157407	.	.	697039	not_provided|LRP1B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.26	T	0.001	B	0.003	B	0.847	N	1.000	N	0	N	-2.83	D	-0.736	T	0.362	T	0.129	2.060	12.85	-6.16	-0.880	-0.470	2.222	0.195	.	0.0028	0.0117812	0.0063	0.0007	0.0021	0.0001	0	0.0024	0.0077	0.0341	0.0058343	902	154602	rs147402550	0.0049	0.0049	0.0040	0.0059	0.0345	0.0048	0.0048	0.0335	0.0331	0.0007	0.0016	0.0007	0.0001	0.0001	0.0096	0.0033	0.0054	0.0345	0.0028	0.0028	0.0025	0.0031	0.0371	0.0026	0.0025	0.0327	0.0310	0.0007	0	0.0022	0.0009	0.0002	0	0.0034	0.0026	0.0028	0.0371	0.152	0.24468	T	0.011	0.64786	D	0.001	0.07471	B	0.003	0.08700	B	0.847102	0.07035	N	1.087950	0.999963	0.18878	N	0	0.06538	N	-2.83	0.91249	D	1.04	0.01332	N	0.099	0.08088	-0.7360	0.58658	T	0.362	0.72354	T	10	0.0046260953	0.00096	T	.	.	.	0.195	0.47612	.	.	0.182106788282	0.17826	0.11120296238086644	0.11049	0.231434023854	0.25697	0.361388236284	0.19588	T	0.082083	0.36747	T	-0.453682	0.01074	T	-0.399392	0.33455	T	0.00324615327500798	0.00034	T	0.60284	0.22604	T	0.057276886	0.11379	0.057300694	0.10391	0.057276886	0.11378	0.057300694	0.10391	-3.998	0.23774	T	.	.	0.081	0.08272	B	.	.	0.184167	0.05711	2.158	0.96061534495411727	0.28593	0.04186	0.09688	N	AEFI	0.071648	0.14272	N	-1.18149815456394	0.05280	0.2403164	-1.18537793561606	0.06153	0.2952971	0.00345728987212099	0.10124	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.76	-6.16	0.01919	-0.732000	0.05008	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.909000	0.44452	0.1881:0.173:0.4111:0.2277	2.222	0.03731	558	0.71484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2689.98	34	chr2	140994107	.	T	C	2689.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.612;DP=1051;ExcessHet=0.0000;FS=3.849;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=-4.270e-01;SOR=0.469	GT:AD:DP:GQ:PL	0/1:113,113:226:99:2704,0,2731	20	0	1	0
chr2	151379533	151379533	A	-	exonic	TNFAIP6	.	nonframeshift deletion	TNFAIP6:NM_007115:exon6:c.834delA:p.X278X,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	0/1:15,21,0,0:36:99:410,0,265,455,327,782,455,327,782,782	1	6	10	0
chr2	151379533	151379533	-	A	exonic	TNFAIP6	.	nonframeshift insertion	TNFAIP6:NM_007115:exon6:c.834dupA:p.X278delinsX,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	0/1:15,21,0,0:36:99:410,0,265,455,327,782,455,327,782,782	1	6	10	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.753	P	0.241	B	0.000	D	1.000	N	1.04	L	.	.	-1.008	T	0.064	T	0.589	2.522	14.39	4.94	1.467	2.498	9.504	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4167	1342.85	104	chr2	157321525	.	C	G	1342.85	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.190e+00;DP=3903;ExcessHet=17.4423;FS=278.896;InbreedingCoeff=-0.6111;MLEAC=16;MLEAF=0.444;MQ=60.00;MQRankSum=0.00;QD=0.51;ReadPosRankSum=0.851;SOR=12.437	GT:AD:DP:GQ:PL	0/1:131,56:198:96:96,0,2312	3	0	15	3
chr2	164939509	164939509	A	G	exonic	SLC38A11	.	nonsynonymous SNV	SLC38A11:NM_001351539:exon3:c.T112C:p.S38P	.	.	444	1074	4	0	0	4	0.00185874	.	.	2434660	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.269	B	0.431	B	0.001	D	0.996	D	1.78	L	4.37	T	-0.998	T	0.013	T	0.684	3.140	16.50	3.29	0.980	1.303	6.204	0.154	0.0107506147271	0.0003	.	0.0003	9.682e-05	0.0003	0	0	0.0004	0.0022	0.0002	0.0002911	45	154602	rs138491284	0.0003	0.0003	0.0002	0.0003	0.0050	0.0002	0.0002	0.0036	0.0031	0.0001	0.0003	0.0035	0	0	0.0050	0.0002	0.0007	0.0002	0.0003	0.0003	0.0003	0.0004	0.0011	0.0003	0.0002	0.0007	0.0006	9.649e-05	0	0.0011	0.0040	0	0	0	0.0002	0.0005	0.0004	0.185	0.32929	T	0.116	0.56640	T	0.228	0.31731	B	0.305	0.45421	B	0.000545	0.43413	D	0.273195	0.993092	0.42998	D	2.19	0.61577	M	4.37	0.02277	T	-2.15	0.54382	N	0.755	0.76760	-0.9981	0.30451	T	0.013	0.05225	T	10	0.07626912	0.11892	T	0.010751	0.27641	T	0.154	0.40340	.	.	0.0920862733494	0.08535	0.881095751847942	0.88077	0.37277209944	0.38762	0.485611915588	0.36831	T	0.05322	0.29381	T	-0.277027	0.10986	T	-0.32973	0.41498	T	0.369832158088684	0.27791	T	0.815518	0.47040	T	0.7433151	0.80482	0.7608945	0.85873	0.7433151	0.80484	0.7608945	0.85874	-10.354	0.87543	D	.	.	0.672	0.72197	P	.;.;.;.	.;.;.;.	2.920864	0.38776	20.8	0.99848558492442641	0.92838	0.87534	0.47104	D	AEFBI	0.598210	0.59169	D	-0.0698936984524735	0.38719	2.27201	-0.0174612701281529	0.38927	2.300438	0.924054684441534	0.26766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.87	3.29	0.36801	0.779000	0.26407	4.341000	0.43058	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.813000	0.38311	0.5919:0.2619:0.0:0.1462	6.204	0.19805	785	0.46916	.;Amino acid transporter, transmembrane domain;Amino acid transporter, transmembrane domain;Amino acid transporter, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1768.11	33	chr2	164939509	.	A	G	1768.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.192e+00;DP=797;ExcessHet=0.1072;FS=2.201;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=-2.460e-01;SOR=0.502	GT:AD:DP:GQ:PL	0/1:29,42:71:99:910,0,674	19	0	2	0
chr2	172472843	172472843	G	-	exonic	ITGA6	.	frameshift deletion	ITGA6:NM_001316306:exon5:c.371delG:p.E125Sfs*9,	Epidermolysis bullosa, junctional, with pyloric stenosis, Autosomal recessive	.	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0001	0	0.0010	0.0001552	24	154602	rs753926926	0.0001	0.0001	5.588e-05	0.0001	0.0011	8.857e-05	8.342e-05	0.0009	0.0008	0	8.945e-05	0	0	0	0.0007	3.599e-05	0.0001	0.0011	5.256e-05	5.253e-05	6.422e-05	4.035e-05	0.0006	2.557e-05	1.83e-05	0.0002	8.992e-05	0	0	0.0001	0	0	0	0	4.409e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2058.94	38	chr2	172472842	.	CG	C	2058.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=858;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.60;ReadPosRankSum=-5.860e-01;SOR=0.686	GT:AD:DP:GQ:PL	0/1:62,70:132:99:2073,0,1802	20	0	1	0
chr2	176117099	176117099	G	A	exonic	HOXD10	.	nonsynonymous SNV	HOXD10:NM_002148:exon1:c.G266A:p.R89Q,	Charcot-Marie-Tooth disease, foot deformity of, Autosomal dominant;Vertical talus, congenital, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	285876	not_provided|Congenital_vertical_talus	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001835,Human_Phenotype_Ontology:HP:0001838,Human_Phenotype_Ontology:HP:0004693,Human_Phenotype_Ontology:HP:0010218,MONDO:MONDO:0008652,MedGen:C0240912,OMIM:192950,Orphanet:178382	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	0.991	D	0.557	P	0.000	D	1.000	D	2.94	M	1.43	T	-0.726	T	0.167	T	0.854	4.294	22.5	5.73	2.699	9.476	19.490	0.413	0.053365571699	7.7e-05	.	8.237e-05	9.612e-05	0	0	0	0.0001	0	0	7.12e-05	11	154602	rs374700658	7.525e-05	7.524e-05	7.214e-05	7.838e-05	0.0024	6.382e-05	5.938e-05	0.0015	0.0012	2.987e-05	4.472e-05	0	0	0	0.0024	7.554e-05	6.623e-05	5.797e-05	5.91e-05	5.905e-05	5.14e-05	6.715e-05	0.0002	3.076e-05	2.209e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0.0005	0.0002	0.001	0.78490	D	0.003	0.76473	D	0.991	0.64070	D	0.557	0.49454	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.06	0.86941	M	1.43	0.32958	T	-3.03	0.62747	D	0.822	0.81758	-0.7256	0.59184	T	0.167	0.50599	T	10	0.8372341	0.82879	D	0.053366	0.65439	D	0.413	0.72404	.	.	0.720936860749	0.71847	0.6714783670957326	0.67085	0.417033127101	0.42332	0.682498157024	0.64628	T	0.702251	0.91437	D	0.0625562	0.59934	T	0.077783	0.75430	D	0.919317245483398	0.57797	D	0.988551	0.96078	D	0.6491992	0.75321	0.6710455	0.80698	0.6491992	0.75323	0.6710455	0.80699	-4.442	0.30122	T	.	.	0.287	0.51925	B	.	.	6.722911	0.95643	35	0.99935724241445467	0.99579	0.99220	0.93002	D	AEFDBI	0.926660	0.90811	D	0.853128558413981	0.89286	9.909679	0.856946960097362	0.93417	12.02764	0.999999999999639	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	5.73	5.73	0.89730	9.602000	0.97623	11.836000	0.97677	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.490	0.95038	719	0.55657	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2969.98	39	chr2	176117099	.	G	A	2969.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.830e-01;DP=950;ExcessHet=0.0000;FS=3.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=0.094;SOR=0.506	GT:AD:DP:GQ:PL	0/1:115,121:236:99:2984,0,2823	20	0	1	0
chr2	178650756	178650756	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon163:c.C32402G:p.P10801R	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1461	59	2	0	63	0.0211055	.	.	56094	Tibial_muscular_dystrophy|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiovascular_phenotype|Cardiomyopathy|Dilated_cardiomyopathy_1G	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.01	B	0.01	B	.	.	0.037	P	0	N	-0.03	T	-1.086	T	0.001	T	0.283	2.225	13.40	3.08	0.572	0.745	11.644	0.104	.	0.0027	0.0393371	0.0306	0.0011	0.0060	0.1733	0.0345	0.0093	0.0292	0.0519	0.0160865	2487	154602	rs72650066	0.0092	0.0093	0.0082	0.0102	0.1324	0.0091	0.0090	0.1294	0.1281	0.0010	0.0021	0.0204	0.1324	0.0248	0.0181	0.0019	0.0140	0.0379	0.0096	0.0096	0.0080	0.0112	0.1243	0.0092	0.0090	0.1164	0.1132	0.0013	0.0044	0.0020	0.0196	0.1243	0.0241	0.0068	0.0029	0.0104	0.0377	0.22	0.30515	T	.	.	.	0.01	0.15535	B	0.01	0.14941	B	.	.	.	.	0.999584	0.38299	P	1.935	0.51832	L	-0.03	0.64630	T	-2.03	0.75297	N	0.088	0.14622	-1.0863	0.06173	T	0.001	0.00287	T	8	0.003309399	0.00057	T	.	.	.	0.104	0.29647	.	.	.	.	.	.	0.0905780317128	0.10218	0.281594097614	0.07715	T	.	.	.	-0.518947	0.00446	T	-0.388388	0.34741	T	0.00381521306306221	0.00040	T	0.206579	0.08622	T	.	.	.	.	.	.	.	.	-8.184	0.64469	D	.	.	0.096	0.28807	B	.;.;.;.;.	.;.;.;.;.	2.490476	0.32130	18.95	0.90375552909682755	0.19638	0.34615	0.25109	N	AEFDBI	0.164300	0.29068	N	-0.915212809601297	0.10486	0.5013117	-0.84299206343616	0.13457	0.6981461	0.232525281216098	0.18481	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.91	3.08	0.34576	2.103000	0.41430	.	.	-0.110000	0.15115	0.095000	0.22689	1.000000	0.68203	0.149000	0.20271	0.0:0.1349:0.7247:0.1404	11.644	0.50508	441	0.80015	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1301.98	34	chr2	178650756	.	G	C	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.461e+00;DP=803;ExcessHet=0.0000;FS=1.482;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-9.390e-01;SOR=0.856	GT:AD:DP:GQ:PL	0/1:54,61:115:99:1316,0,1229	20	0	1	0
chr2	178709578	178709578	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon96:c.A25009G:p.I8337V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	YES	0	1519	3	0	0	3	0.000986518	.	.	173342	Dilated_cardiomyopathy_1G|TTN-related_disorder|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Supraventricular_tachycardia|Tibial_muscular_dystrophy	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|.|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|Human_Phenotype_Ontology:HP:0004755,MedGen:C0039240|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.0	B	0.002	B	.	.	1.000	D	-1.025	N	1.23	T	-1.067	T	0.032	T	0.267	0.374	6.030	-0.833	-0.355	0.340	12.287	0.066	0.0104756147227	0.0002	.	0.0002	0	8.772e-05	0	0	0.0002	0.0011	0	0.0001294	20	154602	rs371826762	0.0002	0.0002	0.0002	0.0002	0.0056	0.0002	0.0002	0.0041	0.0036	0	0.0002	0.0025	7.596e-05	0	0.0056	0.0001	0.0003	3.487e-05	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	6.803e-05	5.087e-05	2.405e-05	0	0	0.0023	0.0002	0	0.0238	0.0001	0.0005	0	0.583	0.05936	T	.	.	.	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.81001	D	.	.	.	1.23	0.36872	T	-0.28	0.11547	N	0.113	0.10769	-1.0668	0.10131	T	0.032	0.13811	T	9	0.0077707767	0.00177	T	0.010476	0.27066	T	0.066	0.19193	.	.	0.119812018005	0.11559	.	.	0.0706562436126	0.07918	0.250583171844	0.03830	T	.	.	.	-0.358762	0.04200	T	-0.527412	0.19545	T	0.00681246974402369	0.00077	T	0.631037	0.28129	T	.	.	.	.	.	.	.	.	-1.64	0.02518	T	.	.	0.058	0.00670	B	.;.;.;.	.;.;.;.	0.402988	0.07739	4.423	0.6451002309517706	0.07513	0.03339	0.08418	N	AEFBI	0.124991	0.24131	N	-1.26632090298818	0.04088	0.1838568	-1.19982553831079	0.05914	0.2831301	0.00256020339293704	0.09527	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.9	-0.833	0.10237	0.338000	0.19599	.	.	-0.123000	0.13640	0.036000	0.20778	0.023000	0.20922	0.382000	0.26379	0.0:0.5554:0.0:0.4446	12.287	0.54114	369	0.84396	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1104.98	33	chr2	178709578	.	T	C	1104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.360e-01;DP=775;ExcessHet=0.0000;FS=0.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-5.470e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1119,0,1223	20	0	1	0
chr2	178724331	178724331	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon69:c.C17312T:p.A5771V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1469	50	2	0	54	0.0180481	.	.	55845	Tibial_muscular_dystrophy|not_provided|Dilated_cardiomyopathy_1G|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.096	B	0.089	B	.	.	1.000	D	0.96	L	-0.33	T	-1.127	T	0.002	T	0.391	2.328	13.74	6.02	2.865	1.712	16.243	0.243	.	0.0026	0.0357428	0.0165	0.0012	0.0025	0.1206	0.0234	0.0040	0.0201	0.0283	0.0150904	2333	154602	rs72648960	0.0081	0.0081	0.0075	0.0088	0.1315	0.0080	0.0080	0.1285	0.1273	0.0011	0.0015	0.0107	0.1315	0.0249	0.0165	0.0016	0.0128	0.0263	0.0089	0.0089	0.0075	0.0104	0.1238	0.0085	0.0084	0.1159	0.1127	0.0017	0.0044	0.0019	0.0109	0.1238	0.0243	0.0034	0.0025	0.0104	0.0257	0.074	0.34621	T	.	.	.	0.096	0.25489	B	0.089	0.29769	B	.	.	.	.	1	0.81001	D	.	.	.	-0.33	0.68329	T	-2.43	0.53258	N	0.144	0.19861	-1.1269	0.01936	T	0.002	0.00738	T	9	0.0019120276	0.00026	T	.	.	.	0.243	0.54921	.	.	.	.	.	.	0.103848864121	0.11752	0.359437406063	0.19304	T	.	.	.	-0.453742	0.01073	T	-0.294725	0.45280	T	0.0290006924244436	0.01838	T	0.756924	0.39714	T	.	.	.	.	.	.	.	.	-5.853	0.45033	T	.	.	0.121	0.25265	B	.;.;.;.	.;.;.;.	3.504248	0.49039	22.7	0.96988817785172754	0.31892	0.91942	0.54598	D	AEFBI	0.709002	0.66323	D	0.0698934415565155	0.45062	2.769151	0.266236103342934	0.53580	3.526084	0.999691923627461	0.41870	0.553676	0.25195	0	0.588015	0.36545	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	0.757000	0.26098	.	.	0.676000	0.76740	0.946000	0.32893	1.000000	0.68203	0.990000	0.65344	0.0:0.168:0.832:0.0	16.243	0.82250	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2379.98	40	chr2	178724331	.	G	A	2379.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.150e-01;DP=991;ExcessHet=0.0000;FS=2.348;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=1.36;SOR=0.816	GT:AD:DP:GQ:PL	0/1:116,97:213:99:2394,0,2937	20	0	1	0
chr2	178776739	178776739	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon27:c.C4987G:p.L1663V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	.	.	0.990	N	2.115	M	-0.66	T	0.020	D	0.536	D	0.304	1.130	9.606	5.34	2.522	6.604	19.049	0.414	0.0147726489888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.56456	D	0.0	0.92824	D	0.999	0.90584	D	0.998	0.88582	D	.	.	.	.	0.989898	0.41045	D	.	.	.	-0.66	0.72348	T	-2.23	0.58896	N	0.345	0.64052	0.020	0.82663	D	0.536	0.82820	D	9	0.36435875	0.52983	T	0.014773	0.35101	T	0.414	0.72479	0.465	0.53566	0.662473173981	0.65964	.	.	0.465770963553	0.46000	0.717854857445	0.69733	T	.	.	.	-0.0103844	0.50212	T	-0.252693	0.49552	T	0.333222288417017	0.26354	T	0.916808	0.71149	D	.	.	.	.	.	.	.	.	-8.213	0.66927	D	.	.	0.608	0.69190	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.539940	0.49714	22.8	0.88723039728343223	0.18203	0.98108	0.79665	D	AEFBI	0.903450	0.85255	D	0.794725804563912	0.85775	8.677712	0.768167274864971	0.87509	9.246127	0.999999279517527	0.74766	0.516011	0.20929	0	0.546412	0.12157	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.34	5.34	0.75982	6.709000	0.74487	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	19.049	0.93018	345	0.85689	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	87.98	36	chr2	178776739	.	G	C	87.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.187e+00;DP=1109;ExcessHet=0.0000;FS=95.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.58;ReadPosRankSum=1.65;SOR=6.592	GT:AD:DP:GQ:PL	0/1:120,31:151:99:102,0,2733	20	0	1	0
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.482	17.82	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59e-06	3.296e-05	1.582e-06	1.598e-06	1.463e-05	2.6e-07	1e-07	.	.	0	0	0	0	2.117e-05	0	0	0	1.463e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36496	0.87625	D	0.286463	0.87465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.078213	0.96114	35	0.99490046545528399	0.67403	0.99024	0.90115	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,14,15:48:5:.:.:62,0,231,5,165,241	0	0	8	4
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.361	17.33	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,14,15:48:5:.:.:62,0,231,5,165,241	0	0	8	4
chr2	189805814	189805814	-	A	exonic	PMS1	.	frameshift insertion	PMS1:NM_001321049:exon4:c.478dupA:p.L164Vfs*4,	.	.	439	771	31	0	281	312	0.0197076	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2849.26	33	chr2	189805813	.	TA	TAA,T	2849.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-9.480e-01;DP=1006;ExcessHet=1.7912;FS=0.538;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=6.80;ReadPosRankSum=-3.040e-01;SOR=0.630	GT:AD:DP:GQ:PL	0/1:32,30,0:62:99:585,0,688,681,777,1458	15	0	5	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	D	1.000	D	-1.67	N	.	.	-0.977	T	0.034	T	0.646	1.588	11.27	5.02	1.896	6.225	14.399	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5227.32	96	chr2	197523648	.	T	C	5227.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-1.034e+00;DP=1714;ExcessHet=36.0830;FS=391.571;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=60.00;MQRankSum=0.00;QD=3.31;ReadPosRankSum=0.282;SOR=12.797	GT:AD:DP:GQ:PL	0/1:57,38:95:99:251,0,769	0	0	19	2
chr2	199819527	199819527	-	A	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441dupT:p.*148delinsLNLRSPL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/2:39,4,12,0:55:99:114,175,1128,0,774,860,260,1099,886,1181	2	0	4	0
chr2	199819527	199819527	-	AA	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441_442insTT:p.*148delinsFKLEVPFMSHTLLMQEEL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/2:39,4,12,0:55:99:114,175,1128,0,774,860,260,1099,886,1181	2	0	4	0
chr2	206305194	206305194	C	A	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.C666A:p.N222K	.	.	432	1061	27	2	0	31	0.0143985	.	.	2109272	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.08	T	0.447	B	0.146	B	0.027	N	1.000	N	1.5	L	2.34	T	-1.016	T	0.029	T	0.137	4.129	21.3	2.23	0.153	0.774	1.398	0.037	0.0115230301471	0.0002	0.00159744	0.0017	0.0001	0.0022	0	0	0.0006	0.0034	0.0084	0.0014942	231	154602	rs200044367	0.0009	0.0009	0.0006	0.0012	0.0094	0.0009	0.0008	0.0088	0.0086	5.974e-05	0.0010	0.0013	5.038e-05	1.873e-05	0.0080	0.0003	0.0011	0.0094	0.0006	0.0006	0.0004	0.0008	0.0070	0.0005	0.0004	0.0052	0.0045	2.405e-05	0	0.0010	0.0009	0.0002	0	0.0068	0.0004	0.0009	0.0070	0.023	0.48186	D	0.158	0.31629	T	0.447	0.36006	B	0.146	0.33945	B	0.027166	0.25800	N	0.188694	1	0.08975	N	1.75	0.45442	L	2.34	0.16351	T	-3.28	0.65627	D	0.327	0.37197	-1.0159	0.25045	T	0.029	0.12278	T	10	0.0061847568	0.00139	T	0.011523	0.29227	T	0.037	0.09474	0.177	0.08379	0.194818534648	0.19098	0.08912010333343588	0.08845	0.162359928004	0.18315	0.281682133675	0.07728	T	0.049049	0.39302	T	-0.6015	0.00143	T	-0.630675	0.10364	T	0.0336020536051496	0.02571	T	.	.	.	0.13841118	0.32012	0.12605263	0.30363	0.13841118	0.32012	0.12605263	0.30362	-2.662	0.06989	T	.	.	0.216	0.47816	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.613284	0.20610	14.83	0.99684880871400117	0.79507	0.42900	0.26980	N	AEFBI	0.062519	0.12022	N	-0.231030919698507	0.31868	1.791223	-0.199562780340314	0.31554	1.78676	0.00761789160899349	0.11507	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.11	2.23	0.27189	-0.024000	0.12382	0.521000	0.19165	0.599000	0.40250	0.004000	0.16614	0.805000	0.26985	0.961000	0.51904	0.308:0.3827:0.1422:0.167	1.398	0.02128	885	0.28214	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3987.11	193	chr2	206305194	.	C	A	3987.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.39;DP=1806;ExcessHet=0.1072;FS=1.810;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-5.960e-01;SOR=0.600	GT:AD:DP:GQ:PL	0/1:84,50:134:99:1269,0,2223	19	0	2	0
chr2	216099952	216099952	G	A	exonic	TMEM169	.	nonsynonymous SNV	TMEM169:NM_001142311:exon3:c.G304A:p.V102I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.995	D	0.000	D	1.000	D	2.095	M	.	.	-0.316	T	0.408	T	0.53	5.077	31	4.93	2.550	9.554	17.308	0.343	.	.	0.00279553	0.0018	9.61e-05	0	0.0015	0	0	0	0.0125	0.0015394	238	154602	rs147230933	0.0007	0.0007	0.0004	0.0010	0.0111	0.0007	0.0007	0.0105	0.0103	0.0002	0	0	0.0010	0	0.0002	2.068e-05	0.0007	0.0111	0.0004	0.0004	0.0002	0.0006	0.0093	0.0003	0.0003	0.0072	0.0064	4.816e-05	0	0	0	0.0029	0	0	1.47e-05	0	0.0093	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.215	0.62545	M	.	.	.	-1.0	0.26422	N	0.523	0.56317	-0.3164	0.74523	T	0.408	0.75734	T	9	0.010059208	0.00225	T	.	.	.	0.343	0.66488	.	.	0.0666544352282	0.05500	0.17372362409669934	0.17292	0.518702503951	0.49715	0.574131965637	0.49261	T	0.123157	0.44732	T	-0.226783	0.17075	T	-0.0881465	0.64301	T	0.0743589451656015	0.09250	T	0.906009	0.68297	D	0.15495268	0.35046	0.12847947	0.30910	0.15495268	0.35045	0.12847947	0.30909	-4.289	0.28023	T	.	.	0.343	0.56091	A	.;.;.;.;.	.;.;.;.;.	4.938919	0.81495	27.6	0.99874061118010182	0.95160	0.99535	0.97177	D	AEFDBI	0.883233	0.81198	D	0.816409756359597	0.87123	9.109999	0.787813241486978	0.88934	9.772601	0.999999999993477	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.93	4.93	0.64394	9.671000	0.97894	11.724000	0.94868	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	17.308	0.87088	876	0.30350	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	660.98	34	chr2	216099952	.	G	A	660.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.769;DP=741;ExcessHet=0.0000;FS=1.185;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=1.10;SOR=0.465	GT:AD:DP:GQ:PL	0/1:32,26:58:99:675,0,829	20	0	1	0
chr2	219270327	219270327	C	T	exonic	TUBA4B	.	nonsynonymous SNV	TUBA4B:NM_001355221:exon3:c.C184T:p.R62W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs569466001	2.92e-05	3.021e-05	2.629e-05	3.164e-05	0.0002	1.778e-05	1.453e-05	2.29e-05	1.787e-05	0.0001	0	0	0	0	0.0002	3.929e-05	0	1.534e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	2.939e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.415e-05	0.0011	0	0	0	0	0	2.939e-05	0	0	.	.	.	0.017	0.60337	D	0.031	0.20130	B	0.019	0.18783	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.13858974	0.26357	T	.	.	.	.	.	.	.	.	.	0.5933426054626444	0.59264	.	.	0.217527538538	0.01172	T	0.408546	0.76384	T	.	.	.	.	.	.	.	.	.	0.878612	0.59406	D	0.11802175	0.27814	0.082768425	0.18916	0.11802175	0.27814	0.082768425	0.18916	-6.949	0.53661	T	.	.	0.096	0.15251	B	.	.	1.406547	0.18215	13.61	0.59186468833260597	0.06165	0.78593	0.38798	D	AEFGBHCI	.	.	.	.	.	.	.	.	.	0.999838759412974	0.43792	0.07523	0.01759	0	0.109994	0.03358	0	0.060301	0.00762	0	0.075334	0.01956	0	0.145805	0.27098	4.0	0.145	0.14124	1.325000	0.33330	-1.625000	0.05036	-1.295000	0.01250	0.827000	0.30089	0.000000	0.08366	0.001000	0.02609	0.0:0.707:0.0:0.293	9.169	0.36229	411	0.82069	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2153.98	34	chr2	219270327	.	C	T	2153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.563;DP=885;ExcessHet=0.0000;FS=0.562;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=0.556;SOR=0.646	GT:AD:DP:GQ:PL	0/1:80,88:168:99:2168,0,1826	20	0	1	0
chr2	219629236	219629236	C	T	exonic	SLC4A3	.	nonsynonymous SNV	SLC4A3:NM_001326559:exon4:c.C310T:p.R104W	.	.	403	1118	1	0	0	1	0.000447027	.	.	3203252	SLC4A3-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.007	B	0.005	B	0.000	D	0.999	D	0.695	N	1.41	T	-1.089	T	0.045	T	0.332	3.864	19.63	3.19	0.677	2.035	6.387	0.038	0.0229362471112	.	0.00159744	0.0008	0	8.773e-05	0.0029	0	0	0.0023	0.0039	0.0006727	104	154602	rs184135231	0.0004	0.0004	0.0003	0.0005	0.0043	0.0003	0.0003	0.0038	0.0036	2.987e-05	2.237e-05	0	0.0043	0	0.0003	1.709e-05	0.0005	0.0036	0.0002	0.0002	0.0001	0.0003	0.0035	0.0001	0.0001	0.0022	0.0018	0	0	0	0	0.0019	0	0	1.47e-05	0	0.0035	0.003	0.78490	D	0.004	0.74150	D	0.002	0.14184	B	0.001	0.11217	B	0.000407	0.44736	D	0.139009	0.999005	0.45857	D	1.445	0.36358	L	1.41	0.33412	T	-2.89	0.60665	D	0.265	0.32148	-1.0888	0.05735	T	0.045	0.19478	T	10	0.006428659	0.00146	T	0.022936	0.45870	T	0.038	0.09825	.	.	0.424670345773	0.42081	0.4741634323785609	0.47335	.	.	0.601410865784	0.53103	T	0.452589	0.79286	T	-0.434829	0.01387	T	-0.398851	0.33517	T	0.139198071556149	0.16206	T	0.827917	0.52582	T	0.14824572	0.33852	0.13913119	0.33206	0.14824572	0.33851	0.13913119	0.33205	-6.334	0.49416	T	.	.	0.144	0.31608	B	.;.;.;.	.;.;.;.	4.746310	0.76591	26.5	0.99904138594829217	0.97502	0.75339	0.36883	D	AEFDBCI	0.659693	0.63052	D	-0.304947394254415	0.28960	1.601791	-0.146897060780928	0.33528	1.918787	0.999984912399873	0.51787	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.01	3.19	0.35720	1.734000	0.37790	0.595000	0.19862	0.599000	0.40250	1.000000	0.71638	0.548000	0.25452	0.799000	0.37691	0.4025:0.5106:0.0:0.0869	6.387	0.20769	156	0.93906	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	832.98	33	chr2	219629236	.	C	T	832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.89;DP=781;ExcessHet=0.0000;FS=4.206;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.57;ReadPosRankSum=-3.390e-01;SOR=1.017	GT:AD:DP:GQ:PL	0/1:53,34:87:99:847,0,1207	20	0	1	0
chr2	225042287	225042287	C	T	exonic	DOCK10	.	nonsynonymous SNV	DOCK10:NM_014689:exon1:c.G88A:p.A30T,	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.998	D	0.957	D	0.050	U	1.000	N	0	N	2.14	T	-1.085	T	0.050	T	0.176	2.952	15.84	2.07	0.542	2.235	8.598	0.068	0.60700838713	.	.	0.0026	0	0	0	.	0	0	0.0035	4.53e-05	7	154602	rs567526383	7.146e-05	0.0001	5.415e-05	8.965e-05	0.0006	5.91e-05	5.445e-05	0.0004	0.0004	0	0.0001	0	0	0	0	4.713e-05	0.0002	0.0006	0.0001	0.0001	9.009e-05	0.0001	0.0008	7.1e-05	5.755e-05	0.0003	0.0002	0	0	0.0004	0	0	0	0	0.0001	0	0.0008	0.006	0.61437	D	0.052	0.47581	T	0.807	0.45251	P	0.071	0.27960	B	0.049674	0.23140	U	0.186095	0.975214	0.25447	N	1.04	0.26193	L	2.14	0.19450	T	-0.29	0.11728	N	0.23	0.25867	-1.0851	0.06389	T	0.050	0.21339	T	10	0.03242448	0.01393	T	0.607008	0.96557	D	0.068	0.19811	0.225	0.14960	0.211220785272	0.20719	.	.	0.647601083312	0.58136	0.88123601675	0.94126	D	0.01471	0.12475	T	-0.207547	0.19726	T	-0.535904	0.18701	T	0.156501810136125	0.17609	T	0.548145	0.18826	T	0.11373567	0.26858	0.19248968	0.42765	0.11373567	0.26857	0.19248968	0.42765	-5.333	0.40268	T	.	.	0.227	0.45895	B	.	.	3.512567	0.49200	22.7	0.99614411198196562	0.74992	0.37522	0.25781	N	ALL	0.076776	0.15453	N	-0.0520123475377632	0.39512	2.331316	-0.0435506932398152	0.37770	2.21604	0.999999999686143	0.74766	0.455138	0.09556	0	0.484254	0.07192	0	0.378051	0.06126	2	0.56751	0.32155	0	.	.	3.0	2.07	0.26004	1.842000	0.38891	6.996000	0.57179	0.579000	0.29447	0.998000	0.41325	1.000000	0.68203	0.974000	0.55675	0.4115:0.5885:0.0:0.0	8.598	0.32887	781	0.47532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	194.01	15	chr2	225042287	.	C	T	194.01	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.645e+00;DP=304;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0784;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.40;ReadPosRankSum=-6.740e-01;SOR=0.307	GT:AD:DP:GQ:PL	0/1:1,9:10:12:208,0,12	20	0	1	0
chr2	227290872	227290872	C	T	exonic	COL4A3	.	nonsynonymous SNV	COL4A3:NM_000091:exon37:c.C3196T:p.P1066S,	Alport syndrome, autosomal dominant, Autosomal dominant;Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, benign familial, Autosomal dominant	.	1	1516	4	1	0	6	0.00197498	.	.	288058	Alport_syndrome|not_provided	MONDO:MONDO:0018965,MedGen:C1567741,OMIM:PS301050,Orphanet:63|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.44	T	0.176	B	0.066	B	0.089	N	0.696	N	1.365	L	-5.05	D	0.543	D	0.855	D	0.232	1.650	11.47	3.81	0.892	1.196	4.522	0.266	0.100680383274	0.0002	.	0.0002	0	0	0	0	0.0003	0	0	0.0001294	20	154602	rs377003650	9.86e-05	9.919e-05	0.0001	8.811e-05	3.958e-05	8.519e-05	7.989e-05	3e-05	2.672e-05	0	0	0.0032	0	0	0	3.958e-05	0.0003	0	7.891e-05	7.881e-05	5.142e-05	0.0001	1.47e-05	4.5e-05	3.515e-05	.	.	0	0	0	0.0032	0	0	0	1.47e-05	0	0	0.589	0.05826	T	0.713	0.36765	T	0.028	0.19712	B	0.031	0.21939	B	0.089220	0.20439	N	0.460721	0.695861	0.30148	N	1.475	0.37068	L	-5.05	0.98611	D	-0.51	0.19509	N	0.274	0.31027	0.543	0.91139	D	0.855	0.95162	D	10	0.026106924	0.00786	T	0.10068	0.77311	D	0.266	0.57999	.	.	0.840862361774	0.83934	0.30361999458357675	0.30274	0.19039271064	0.21358	0.289572954178	0.08860	T	0.326946	0.69750	T	-0.0413054	0.45756	T	-0.140743	0.60053	T	0.0438442861480149	0.04392	T	0.70483	0.52677	T	0.0459505	0.07608	0.039696567	0.04121	0.0459505	0.07607	0.039696567	0.04121	-6.294	0.48674	T	0.2295226341873325	0.31048	0.080	0.27523	B	.;.	.;.	2.237211	0.28564	17.84	0.94940569818923792	0.25834	0.61775	0.31583	D	AEFDI	0.144575	0.26757	N	-0.262669229027256	0.30601	1.707796	-0.113735026000875	0.34835	2.008361	0.00469315482775008	0.10676	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.65	3.81	0.43020	0.708000	0.25393	0.798000	0.21632	0.599000	0.40250	0.814000	0.29906	0.987000	0.30940	0.957000	0.51019	0.1585:0.6072:0.1531:0.0812	4.522	0.11370	887	0.27948	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1701.98	34	chr2	227290872	.	C	T	1701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=871;ExcessHet=0.0000;FS=2.093;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=-9.750e-01;SOR=0.925	GT:AD:DP:GQ:PL	0/1:72,74:146:99:1716,0,1594	20	0	1	0
chr2	227379186	227379186	A	G	exonic	TM4SF20	.	nonsynonymous SNV	TM4SF20:NM_024795:exon1:c.T83C:p.I28T,	.	.	420	1096	5	1	0	7	0.00318327	.	.	1643702	not_provided|TM4SF20-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.15	T	0.015	B	0.048	B	0.294	N	1.000	N	1.85	L	1.35	T	-1.002	T	0.090	T	0.172	1.471	10.86	4.62	1.014	2.861	7.196	0.090	0.00840708997818	0.0018	0.00159744	0.0014	0	0.0014	0	0.0017	0.0021	0	6.056e-05	0.0014165	219	154602	rs138536526	0.0017	0.0017	0.0018	0.0017	0.0020	0.0017	0.0017	0.0019	0.0019	0.0003	0.0018	0.0008	0	0.0012	0.0019	0.0020	0.0019	0.0002	0.0017	0.0017	0.0018	0.0016	0.0025	0.0015	0.0015	0.0022	0.0021	0.0003	0	0.0025	0.0014	0	0.0019	0.0068	0.0025	0.0028	0.0004	0.286	0.15201	T	0.008	0.67890	D	0.015	0.17086	B	0.048	0.24975	B	0.294432	0.14709	N	0.653406	1	0.08975	N	2.045	0.56016	M	1.35	0.34648	T	-2.32	0.51478	N	0.276	0.31253	-1.0015	0.29488	T	0.090	0.34518	T	10	0.016111732	0.00339	T	0.008407	0.22257	T	0.090	0.26093	.	.	0.238096912614	0.23440	0.4702324768199751	0.46942	0.0117463660798	0.01108	0.544604420662	0.45096	T	0.013163	0.11438	T	-0.535146	0.00358	T	-0.546403	0.17672	T	0.0388704127529429	0.03488	T	0.609739	0.23084	T	0.087726615	0.20439	0.09108261	0.21396	0.087726615	0.20439	0.09108261	0.21396	-5.286	0.39804	T	.	.	0.306	0.53425	B	.	.	1.356227	0.17643	13.29	0.80408421072147973	0.13189	0.10069	0.15675	N	AEFDGBHCI	0.153685	0.27859	N	-0.577957018991248	0.19615	1.027989	-0.585679621263008	0.19866	1.067808	0.999999438124585	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.77	4.62	0.56946	2.865000	0.48111	6.100000	0.53542	0.691000	0.84096	0.042000	0.21073	0.728000	0.26397	0.090000	0.17789	0.829:0.0:0.171:0.0	7.196	0.25032	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2254.98	35	chr2	227379186	.	A	G	2254.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.770e-01;DP=868;ExcessHet=0.0000;FS=0.560;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=-7.300e-02;SOR=0.626	GT:AD:DP:GQ:PL	0/1:79,95:174:99:2269,0,1911	20	0	1	0
chr2	232847516	232847519	CACA	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	43047.11	33	chr2	232847516	.	CACA	C,*	43047.11	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=-2.081e+00;DP=2385;ExcessHet=2.1081;FS=4.230;InbreedingCoeff=-0.0572;MLEAC=17,2;MLEAF=0.405,0.048;MQ=60.00;MQRankSum=0.00;QD=21.31;ReadPosRankSum=0.139;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,99,0:183:99:0|1:232847516_CACA_C:3630,0,2969,3882,3266,7148:232847516	6	3	10	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	2757.23	33	chr2	232847517	.	A	*,AG	2757.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=-8.110e-01;DP=2381;ExcessHet=1.0911;FS=4.374;InbreedingCoeff=0.0455;MLEAC=19,1;MLEAF=0.452,0.024;MQ=60.00;MQRankSum=0.00;QD=1.42;ReadPosRankSum=-1.791e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,99,0:183:99:0|1:232847516_CACA_C:3630,0,2969,3882,3266,7148:232847516	6	4	10	0
chr2	233462650	233462650	A	G	exonic	DGKD	.	nonsynonymous SNV	DGKD:NM_001377259:exon24:c.A2702G:p.N901S	.	.	406	1104	11	1	0	13	0.00585322	.	.	3205201	DGKD-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.93	T	0.0	B	0.001	B	0.046	N	0.982	N	0.01	N	-1.0	T	-0.963	T	0.138	T	0.011	-1.213	0.066	-1.44	-0.346	0.323	4.868	0.135	.	.	0.00319489	0.0030	0	0.0006	0	0	8.996e-05	0.0077	0.0210	0.0025614	396	154602	rs201384247	0.0012	0.0012	0.0006	0.0018	0.0189	0.0011	0.0011	0.0182	0.0178	2.987e-05	4.473e-05	0	0	0	0.0016	7.195e-06	0.0013	0.0189	0.0006	0.0006	0.0003	0.0009	0.0172	0.0005	0.0004	0.0142	0.0131	2.406e-05	0	0	0	0	0	0	0	0	0.0172	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.046294	0.23454	N	0.439500	0.981593	0.25027	N	-0.14	0.04484	N	-1.0	0.78199	T	0.16	0.05217	N	0.059	0.03069	-0.9630	0.38606	T	0.138	0.45545	T	10	0.004060954	0.00079	T	.	.	.	0.135	0.36572	0.256	0.19689	0.407223025684	0.40337	0.06614763545967561	0.06553	0.388573688024	0.40119	0.328598856926	0.14722	T	0.05319	0.29372	T	-0.380252	0.03105	T	-0.608135	0.12136	T	0.00399687234021469	0.00042	T	.	.	.	0.021439802	0.00746	0.025286177	0.00569	0.021439802	0.00746	0.025286177	0.00569	-1.101	0.01118	T	.	.	0.067	0.02927	B	.;.	.;.	0.526691	0.08954	5.735	0.20337870859659538	0.00727	0.59331	0.30886	D	AEFBCI	0.070745	0.14055	N	-1.04244424391411	0.07736	0.3604049	-0.910491983081611	0.11846	0.6059977	0.696190951250509	0.22644	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.08	-1.44	0.08391	0.137000	0.15816	-0.179000	0.11150	-0.054000	0.16847	0.736000	0.28985	0.000000	0.08366	0.676000	0.33425	0.4875:0.278:0.2345:0.0	4.868	0.12976	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1167.98	33	chr2	233462650	.	A	G	1167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.735;DP=818;ExcessHet=0.0000;FS=2.416;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=1.26;SOR=0.964	GT:AD:DP:GQ:PL	0/1:68,49:117:99:1182,0,1756	20	0	1	0
chr2	237387870	237387870	C	T	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057165:exon3:c.G406A:p.V136M	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	0	1514	8	0	0	8	0.00263505	.	.	100801	Bethlem_myopathy_1A|not_provided|not_specified|COL6A3-related_disorder|Collagen_6-related_myopathy	MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0100225,MedGen:CN117976	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.94	D	0.018	U	0.936	N	1.845	L	-1.68	D	-0.297	T	0.504	D	0.356	2.204	13.33	5.17	2.405	1.665	6.726	0.271	0.132658850597	0.0006	0.000798722	0.0007	0.0002	0.0007	0.0003	0.0012	0.0009	0	0.0003	0.000718	111	154602	rs111402193	0.0006	0.0006	0.0006	0.0006	0.0140	0.0006	0.0006	0.0116	0.0107	0.0007	0.0011	0.0026	0.0002	0.0007	0.0140	0.0005	0.0009	0.0005	0.0008	0.0008	0.0007	0.0009	0.0040	0.0007	0.0006	0.0032	0.0029	0.0001	0	0.0040	0.0014	0	0.0013	0.0170	0.0004	0.0005	0.0012	0.059	0.38407	T	0.036	0.61642	D	0.999	0.77913	D	0.94	0.67560	D	0.018249	0.27526	U	0.169199	0.936	0.37133	D	2.045	0.56016	M	-1.68	0.82897	D	-0.58	0.25118	N	0.254	0.28732	-0.2973	0.75060	T	0.504	0.81320	D	10	0.013223261	0.00281	T	0.132659	0.81500	D	0.271	0.58633	.	.	0.810604063057	0.80882	0.28349017118580144	0.28262	0.62513862552	0.56697	0.433833181858	0.29733	T	0.271864	0.64422	T	-0.274477	0.11262	T	-0.223392	0.52408	T	0.0227698465535153	0.00997	T	0.89771	0.66351	D	0.04972746	0.08875	0.06005353	0.11374	0.049461026	0.08786	0.060145333	0.11405	-4.736	0.35611	T	.	.	0.107	0.37652	B	.;.;.;.;.;.	.;.;.;.;.;.	3.319845	0.45653	22.2	0.99659378707997359	0.77820	0.15977	0.19172	N	AEFBI	0.216180	0.34145	N	0.206430879554537	0.51510	3.331681	0.124960835640577	0.45830	2.839207	0.999996933667115	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	1.699000	0.37423	3.313000	0.37480	0.599000	0.40250	0.005000	0.17040	0.098000	0.22634	0.951000	0.49849	0.0:0.7814:0.0:0.2186	6.726	0.22547	933	0.16026	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1740.98	34	chr2	237387870	.	C	T	1740.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=2.67;SOR=0.743	GT:AD:DP:GQ:PL	0/1:71,66:137:99:1755,0,1660	20	0	1	0
chr2	240757426	240757426	-	TCC	exonic	KIF1A	.	nonframeshift insertion	KIF1A:NM_001379632:exon26:c.2699_2700insGGA:p.E900_D901insE	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878988727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	45978.09	90	chr2	240757423	.	ATCC	A,ATCCTCC	45978.09	.	AC=22,1;AF=0.524,0.024;AN=42;BaseQRankSum=-5.170e-01;DP=2530;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=22,1;MLEAF=0.524,0.024;MQ=60.00;MQRankSum=0.00;QD=29.32;ReadPosRankSum=0.110;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:52,49,0:103:99:.:.:1828,0,1950,2015,2140,4271	5	7	8	0
chr2	241317537	241317537	T	-	exonic	SEPTIN2	.	frameshift deletion	SEPTIN2:NM_001349287:exon3:c.112delT:p.C43Vfs*23,	.	.	3	4	19	0	200	219	0.703704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	9867.71	78	chr2	241317535	.	ATT	A,AT	9867.71	.	AC=2,20;AF=0.048,0.476;AN=42;BaseQRankSum=0.729;DP=1727;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=1,20;MLEAF=0.024,0.476;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=0.074;SOR=0.692	GT:AD:DP:GQ:PL	0/2:37,6,23:78:99:431,309,1589,0,731,703	0	0	1	0
chr3	3140570	3140570	C	T	exonic	TRNT1	.	nonsynonymous SNV	TRNT1:NM_001302946:exon4:c.C403T:p.H135Y	Retinitis pigmentosa and erythrocytic microcytosis, Autosomal recessive;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1042133	Congenital_sideroblastic_anemia-B-cell_immunodeficiency-periodic_fever-developmental_delay_syndrome	MONDO:MONDO:0014487,MedGen:C4015172,OMIM:616084,Orphanet:369861	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.932	P	0.817	P	0.000	D	1.000	D	2.93	M	0.85	T	-0.319	T	0.341	T	0.751	5.512	35	5.71	2.687	7.642	19.858	0.400	0.0406413520802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45756	D	0.032	0.53426	D	0.932	0.51990	P	0.817	0.58928	P	0.000001	0.62929	D	0.109289	1	0.81001	D	2.08	0.57402	M	0.81	0.48460	T	-5.39	0.85027	D	0.806	0.80180	-0.3192	0.74444	T	0.341	0.70680	T	10	0.76575863	0.76690	D	0.040641	0.59486	D	0.400	0.71401	0.538	0.64874	0.526027142273	0.52249	0.8721265256206102	0.87178	0.0174109686577	0.01692	0.742881536484	0.73397	T	0.714136	0.91869	D	0.0971508	0.63984	D	-0.098226	0.63535	T	0.963108956813812	0.66561	D	0.981302	0.93576	D	0.76220375	0.81583	0.76489645	0.86112	0.76220375	0.81585	0.76489645	0.86113	-9.135	0.69513	D	0.5217730490530577	0.59393	0.315	0.63609	B	.;.	.;.	4.801140	0.78012	26.8	0.9982263207090486	0.90502	0.98868	0.87925	D	AEFBI	0.877775	0.80262	D	0.755510373084729	0.83265	7.971913	0.771041356260216	0.87717	9.320068	0.999999999999962	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	7.729000	0.83815	7.514000	0.59661	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.858	0.96769	946	0.12043	Poly A polymerase, head domain|Poly A polymerase, head domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1448.98	34	chr3	3140570	.	C	T	1448.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.190e-01;DP=847;ExcessHet=0.0000;FS=0.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=0.897;SOR=0.756	GT:AD:DP:GQ:PL	0/1:75,67:142:99:1463,0,1694	20	0	1	0
chr3	9932685	9932685	A	C	exonic	IL17RC	.	nonsynonymous SNV	IL17RC:NM_001203265:exon15:c.A1369C:p.K457Q	Candidiasis, familial, 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.808	P	0.216	B	0.595	N	1.000	N	1.67	L	1.78	T	-0.972	T	0.120	T	0.349	1.870	12.21	1.69	0.167	0.710	8.266	0.041	0.0128505700454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.104e-06	4.104e-06	5.445e-06	2.75e-06	0.0010	1.48e-06	9.7e-07	0.0005	0.0003	0	0	0	0	0	0.0010	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.53172	D	0.05	0.54541	T	0.13	0.45299	B	0.075	0.37572	B	0.594784	0.05612	N	1.216020	1	0.08975	N	1.385	0.34509	L	1.78	0.50459	T	-1.39	0.39314	N	0.258	0.33250	-0.9723	0.36712	T	0.120	0.41865	T	10	0.09664804	0.17352	T	0.012851	0.31779	T	0.041	0.10877	0.349	0.34598	0.124217242631	0.12060	0.40649871090723494	0.40565	0.424901746232	0.42907	0.339967280626	0.16433	T	0.178366	0.52899	T	-0.111218	0.34567	T	-0.397533	0.33671	T	0.10174333393571	0.12548	T	0.784022	0.42156	T	0.13790832	0.31914	0.10143562	0.24282	0.13790832	0.31913	0.10143562	0.24281	-6.727	0.71430	T	.	.	0.119	0.27069	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.587378	0.20305	14.69	0.97617779221024381	0.34943	0.04194	0.09699	N	AEFDGBHCI	0.111232	0.22029	N	-0.664952179719967	0.17027	0.8726481	-0.76244541854088	0.15417	0.8107225	0.999999966287827	0.74766	0.652421	0.48094	0	0.218748	0.04544	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	4.19	1.69	0.23290	1.255000	0.32512	2.616000	0.33606	0.735000	0.85950	0.190000	0.24188	0.989000	0.31174	0.254000	0.23365	0.5477:0.4523:0.0:0.0	8.266	0.30975	631	0.64944	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	794.98	33	chr3	9932685	.	A	C	794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.383;DP=787;ExcessHet=0.0000;FS=1.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.14;ReadPosRankSum=0.126;SOR=0.809	GT:AD:DP:GQ:PL	0/1:52,35:87:99:809,0,1287	20	0	1	0
chr3	27297207	27297207	T	C	exonic	NEK10	.	nonsynonymous SNV	NEK10:NM_152534:exon15:c.A1202G:p.N401S	.	.	433	1052	34	3	0	40	0.0186567	.	.	698020	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.11	T	0.011	B	0.014	B	0.006	N	1.000	D	1.155	L	0.83	T	-1.047	T	0.084	T	0.084	2.971	15.91	5.45	2.194	5.746	15.800	0.082	.	0.0094	0.00359425	0.0088	0.0036	0.0071	0.0002	0.0006	0.0133	0.0101	0.0023	0.0079559	1230	154602	rs141057699	0.0095	0.0096	0.0095	0.0095	0.0363	0.0094	0.0093	0.0322	0.0307	0.0030	0.0090	0.0556	0.0002	0.0009	0.0363	0.0096	0.0135	0.0026	0.0077	0.0077	0.0084	0.0070	0.0097	0.0074	0.0072	0.0088	0.0086	0.0029	0	0.0097	0.0602	0.0006	0.0002	0.0238	0.0094	0.0161	0.0029	0.121	0.27783	T	0.029	0.57104	D	0.011	0.15914	B	0.014	0.16862	B	0.005918	0.32413	N	0.344209	0.955034	0.37906	D	1.78	0.46185	L	0.83	0.47815	T	-2.22	0.49846	N	0.348	0.38950	-1.0467	0.15332	T	0.084	0.32900	T	10	0.005595118	0.00124	T	.	.	.	0.082	0.23913	.	.	0.677678353351	0.67494	0.3220118445769102	0.32114	0.186626053331	0.20973	0.480120301247	0.36073	T	0.003156	0.02556	T	-0.573194	0.00212	T	-0.585099	0.14094	T	0.0215633066248969	0.00860	T	0.79872	0.44736	T	0.03760478	0.04853	0.10064199	0.24069	0.03760478	0.04852	0.10064199	0.24068	-8.166	0.65063	D	.	.	0.096	0.15251	B	.;.	.;.	2.527921	0.32681	19.11	0.99135401927465194	0.53383	0.93977	0.59744	D	AEFBHCI	0.718791	0.66988	D	-0.00275865169944812	0.41732	2.501382	0.182280641476564	0.48875	3.09781	0.999984651320607	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.615948	0.41167	0	0.567892	0.33627	0	.	.	5.45	5.45	0.79688	5.711000	0.68052	1.498000	0.26936	-0.690000	0.04136	1.000000	0.71638	0.973000	0.29867	0.551000	0.30197	0.0:0.0:0.0:1.0	15.800	0.78216	518	0.74548	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3745.08	33	chr3	27297207	.	T	C	3745.08	.	AC=2;AF=0.048;AN=42;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.96;SOR=0.882	GT:AD:DP:GQ:PL	1/1:0,125:125:99:3773,375,0	20	1	0	0
chr3	37329075	37329075	A	T	exonic	GOLGA4	.	nonsynonymous SNV	GOLGA4:NM_002078:exon16:c.A6174T:p.R2058S	.	.	455	1036	27	4	0	35	0.0166113	.	.	166001	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.41	T	0.29	B	0.159	B	0.001	N	1.000	D	2.125	M	1.81	T	-1.066	T	0.038	T	0.193	1.783	11.92	5.7	2.175	2.732	11.071	0.103	.	0.0076	0.00938498	0.0070	0.0156	0.0036	0.0001	0.0002	0.0039	0.0090	0.0229	0.0066041	1021	154602	rs11924014	0.0056	0.0056	0.0049	0.0063	0.0344	0.0055	0.0054	0.0304	0.0289	0.0181	0.0038	0.0026	5.072e-05	0.0003	0.0344	0.0042	0.0061	0.0238	0.0079	0.0079	0.0078	0.0080	0.0224	0.0075	0.0074	0.0189	0.0177	0.0162	0	0.0063	0.0026	0.0004	0.0003	0.0374	0.0041	0.0076	0.0224	0.004	0.65419	D	0.006	0.70582	D	0.236	0.30770	B	0.11	0.31460	B	0.001272	0.39594	N	0.000000	0.936566	0.81001	D	2.045	0.56016	M	1.72	0.26588	T	-2.48	0.54059	N	0.445	0.48319	-1.0659	0.10339	T	0.038	0.16246	T	10	0.006607026	0.00150	T	.	.	.	0.103	0.29403	0.112	0.02175	0.346992582518	0.34303	0.341532120676236	0.34066	0.120382308291	0.13557	0.363515198231	0.19897	T	0.165586	0.51149	T	-0.498331	0.00584	T	-0.470341	0.25479	T	0.0281765396883818	0.01713	T	0.928407	0.73561	D	0.18168189	0.39350	0.18456519	0.41516	0.18168189	0.39350	0.18456519	0.41516	-3.646	0.20387	T	.	.	0.486	0.66824	A	.;.;.	.;.;.	3.224906	0.43955	21.8	0.98689621179436293	0.44738	0.92446	0.55731	D	AEFBI	0.554194	0.56514	D	-0.04092981129833	0.40009	2.368753	0.0529901764038133	0.42217	2.549674	0.999893492540626	0.45129	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.7	5.7	0.88690	2.706000	0.46803	8.014000	0.76202	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.928:0.0:0.072:0.0	11.071	0.47220	227	0.91186	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2783.08	39	chr3	37329075	.	A	T	2783.08	.	AC=2;AF=0.048;AN=42;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.69;SOR=1.044	GT:AD:DP:GQ:PL	1/1:0,97:97:99:2811,291,0	20	1	0	0
chr3	40462038	40462038	-	CTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTG:p.A159_K160insAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	4/4:2,0,0,0,59,0,0:61:99:1913,1922,1969,1922,1969,1969,1922,1969,1969,1969,130,177,177,177,0,1922,1969,1969,1969,177,1969,1922,1969,1969,1969,177,1969,1969	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTG:p.A159_K160insAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	4/4:2,0,0,0,59,0,0:61:99:1913,1922,1969,1922,1969,1969,1922,1969,1969,1969,130,177,177,177,0,1922,1969,1969,1969,177,1969,1922,1969,1969,1969,177,1969,1969	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTG:p.A159_K160insAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	4/4:2,0,0,0,59,0,0:61:99:1913,1922,1969,1922,1969,1969,1922,1969,1969,1969,130,177,177,177,0,1922,1969,1969,1969,177,1969,1922,1969,1969,1969,177,1969,1969	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTG:p.A159_K160insAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	4/4:2,0,0,0,59,0,0:61:99:1913,1922,1969,1922,1969,1969,1922,1969,1969,1969,130,177,177,177,0,1922,1969,1969,1969,177,1969,1922,1969,1969,1969,177,1969,1969	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTGCTG:p.A159_K160insAAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	4/4:2,0,0,0,59,0,0:61:99:1913,1922,1969,1922,1969,1969,1922,1969,1969,1969,130,177,177,177,0,1922,1969,1969,1969,177,1969,1922,1969,1969,1969,177,1969,1969	1	2	2	0
chr3	42210088	42210088	-	GGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGA:p.E624_G625insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	1/1:0,65,0,0,0:69:99:2879,197,0,2896,208,2967,2896,208,2967,2967,2896,208,2967,2967,2967	1	3	1	0
chr3	42210088	42210088	-	GGAGGAGGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGAGGAGGA:p.E624_G625insEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	1/1:0,65,0,0,0:69:99:2879,197,0,2896,208,2967,2896,208,2967,2967,2896,208,2967,2967,2967	1	3	1	0
chr3	42210088	42210088	-	GGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGA:p.E624_G625insE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	1/1:0,65,0,0,0:69:99:2879,197,0,2896,208,2967,2896,208,2967,2967,2896,208,2967,2967,2967	1	3	1	0
chr3	46687004	46687004	G	T	exonic	ALS2CL	.	nonsynonymous SNV	ALS2CL:NM_001190707:exon5:c.C513A:p.S171R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.001	B	0.003	B	0.005	N	1.000	D	0.55	N	2.32	T	-1.019	T	0.021	T	0.406	0.852	8.445	1.2	0.539	-0.099	4.183	0.084	0.00210560055768	.	.	1.947e-05	0	0	0	0	3.391e-05	0	0	1.29e-05	2	154602	rs781336907	2.139e-05	2.531e-05	2.747e-05	1.526e-05	0.0031	1.533e-05	1.336e-05	0.0020	0.0017	0	0	0	0	2.187e-05	0.0031	3.605e-06	0.0001	0	1.316e-05	1.314e-05	2.571e-05	0	6.546e-05	2.19e-06	8.2e-07	.	.	0	0	6.546e-05	0	0	0	0	1.471e-05	0	0	0.147	0.24955	T	0.404	0.14818	T	0.001	0.07471	B	0.003	0.08700	B	0.005304	0.32910	N	0.264465	0.863438	0.28320	N	1.145	0.29067	L	2.32	0.16640	T	-0.55	0.16799	N	0.273	0.31365	-1.0188	0.24106	T	0.021	0.08639	T	10	0.14291042	0.27139	T	0.002106	0.03882	T	0.084	0.24469	0.377	0.39156	0.0920862733494	0.08535	0.1565877613015919	0.15579	0.129854084997	0.14643	0.331693798304	0.15190	T	0.033368	0.22885	T	-0.1941	0.21658	T	-0.516588	0.20640	T	0.0580311380326748	0.06855	T	0.644036	0.25562	T	0.057877537	0.11573	0.06285069	0.12361	0.057877537	0.11572	0.06285069	0.12361	-3.002	0.10202	T	.	.	0.141	0.31658	B	.;.	.;.	0.997249	0.13754	10.30	0.97034709862321622	0.32084	0.60931	0.31337	D	AEFDBI	0.179015	0.30630	N	-0.760988316449529	0.14336	0.7133154	-0.642062896578149	0.18417	0.9837625	0.999949446724112	0.47345	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	4.3	1.2	0.20181	-0.122000	0.10602	0.733000	0.21101	-0.242000	0.07441	0.949000	0.33028	0.999000	0.35428	0.804000	0.37906	0.0953:0.1565:0.588:0.1602	4.183	0.09848	310	0.87484	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1099.98	39	chr3	46687004	.	G	T	1099.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.520e-01;DP=784;ExcessHet=0.0000;FS=2.851;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-7.120e-01;SOR=0.452	GT:AD:DP:GQ:PL	0/1:36,49:85:99:1114,0,761	20	0	1	0
chr3	46709586	46709586	-	AAG	exonic	TMIE	.	nonframeshift insertion	TMIE:NM_001370524:exon4:c.210_211insAAG:p.K78_D79insK	Deafness, autosomal recessive 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	36052.73	62	chr3	46709583	.	TAAG	T,TAAGAAG	36052.73	.	AC=25,1;AF=0.595,0.024;AN=42;BaseQRankSum=-3.730e-01;DP=1535;ExcessHet=4.5793;FS=0.569;InbreedingCoeff=-0.2115;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;MQRankSum=0.00;QD=28.75;ReadPosRankSum=0.200;SOR=0.670	GT:AD:DP:GQ:PL	0/1:25,41,0:68:99:1638,0,926,1722,1061,2838	2	7	11	0
chr3	48576767	48576767	C	T	exonic	COL7A1	.	nonsynonymous SNV	COL7A1:NM_000094:exon68:c.G5609A:p.R1870H,	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	2126274	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.414	B	0.038	B	0.148	N	1.000	N	0.78	N	-3.39	D	-0.404	T	0.566	D	0.06	2.313	13.69	-11.9	-2.750	-2.097	15.983	0.245	0.0282404372092	.	.	0.0002	0	0	0.0008	0	0.0002	0	0.0003	0.0001423	22	154602	rs756690615	0.0001	0.0001	0.0001	0.0001	0.0005	9.405e-05	8.887e-05	0.0002	0.0002	2.988e-05	4.483e-05	0.0002	0.0004	0.0002	0.0005	8.635e-05	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0006	8.665e-05	7.257e-05	0.0002	8.387e-05	4.825e-05	0	0.0002	0.0003	0.0006	9.416e-05	0	0.0001	0.0005	0	0.675	0.04495	T	0.547	0.09522	T	0.414	0.35185	B	0.038	0.23361	B	0.147769	0.02938	N	1.840270	1	0.20372	N	1.65	0.42232	L	-3.39	0.94210	D	-0.13	0.08971	N	0.093	0.07262	-0.4036	0.71914	T	0.566	0.84258	D	10	0.020556033	0.00476	T	0.02824	0.50944	D	0.245	0.55201	.	.	0.53787198782	0.53439	0.7921411625777206	0.79166	0.308530585448	0.33167	0.270037353039	0.06146	T	0.24246	0.61120	T	-0.396686	0.02434	T	-0.408709	0.32375	T	0.021591553891096	0.00864	T	0.639136	0.25234	T	0.0182563	0.00347	0.03693297	0.03242	0.0182563	0.00347	0.03693297	0.03241	-8.957	0.67420	D	0.20026338926010548	0.26573	0.067	0.02458	B	.	.	-0.377669	0.02298	0.242	0.86104010121582442	0.16316	0.05813	0.11751	N	AEFGBCI	0.092182	0.18665	N	-1.66683024781728	0.00966	0.04186543	-1.80300104372907	0.00749	0.03341359	0.999999988765417	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.93	-11.9	0.00018	-2.659000	0.00924	-1.943000	0.04458	-1.577000	0.00925	0.000000	0.06391	0.000000	0.08366	0.413000	0.27073	0.0:0.6195:0.2714:0.1091	15.983	0.79920	12	0.98946	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2056.98	36	chr3	48576767	.	C	T	2056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=887;ExcessHet=0.0000;FS=0.567;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=-7.020e-01;SOR=0.645	GT:AD:DP:GQ:PL	0/1:88,79:167:99:2071,0,2144	20	0	1	0
chr3	49357432	49357432	G	A	exonic	GPX1	.	nonsynonymous SNV	GPX1:NM_001329455:exon2:c.C430T:p.P144S,	Hemolytic anemia due to glutathione peroxidase deficiency, Autosomal recessive	.	2	1514	5	0	1	6	0.00164853	.	.	2367512	Gluthathione_peroxidase_deficiency|not_specified	MONDO:MONDO:0013601,MedGen:C0398747,OMIM:614164|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.055	B	0.005	B	0.742	N	0.876	D	0.83	L	3.84	T	-0.896	T	0.007	T	0.186	0.559	7.024	-1.95	-0.031	0.539	8.102	0.035	.	.	.	0.0001	0.0001	0	0	0	0.0001	0	0.0003	3.84e-05	1	26028	rs777715410	0.0001	0.0001	9.263e-05	0.0001	0.0011	9.61e-05	9.089e-05	0.0005	0.0003	8.963e-05	0.0003	0.0002	0	0.0001	0.0011	8.727e-05	0.0002	0.0002	0.0003	0.0003	0.0002	0.0003	0.0015	0.0002	0.0002	0.0010	0.0009	7.218e-05	0	0.0015	0.0003	0	9.423e-05	0.0034	0.0001	0	0	0.434	0.09430	T	0.984	0.02471	T	0.055	0.22733	B	0.005	0.11217	B	0.741591	0.09772	N	0.877132	0.876088	0.35657	D	0.415	0.12483	N	3.84	0.03675	T	-0.21	0.10308	N	0.133	0.12913	-0.8956	0.48427	T	0.007	0.02360	T	10	0.027851105	0.00925	T	.	.	.	0.035	0.08770	0.31	0.28289	0.0846915920261	0.08053	.	.	0.652490442327	0.58438	0.310011893511	0.11908	T	0.015677	0.13101	T	-0.461966	0.00956	T	-0.603799	0.12494	T	0.00947188779281449	0.00122	T	0.689031	0.35642	T	0.1167374	0.27529	0.061179016	0.11772	0.1167374	0.27529	0.061179016	0.11772	.	.	.	.	.	0.107	0.22717	B	.;.;.	.;.;.	2.120886	0.26994	17.31	0.89409051306305587	0.18771	0.36175	0.25473	N	AEFGBCI	0.564856	0.57148	D	-0.963104113492769	0.09401	0.4447446	-0.917437660833921	0.11683	0.5966925	0.999999776486528	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	5.1	-1.95	0.07135	0.819000	0.26965	2.430000	0.32726	0.672000	0.70159	0.627000	0.27974	1.000000	0.68203	0.975000	0.56047	0.0749:0.5016:0.3245:0.099	8.102	0.30026	1	0.99630	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	939.98	42	chr3	49357432	.	G	A	939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.013;DP=924;ExcessHet=0.0000;FS=1.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.20;MQRankSum=1.33;QD=14.03;ReadPosRankSum=-1.031e+00;SOR=0.919	GT:AD:DP:GQ:PL	0/1:31,36:67:99:954,0,821	20	0	1	0
chr3	49358244	49358246	GCC	-	exonic	GPX1	.	nonframeshift deletion	GPX1:NM_001329455:exon1:c.33_35del:p.A13del,	Hemolytic anemia due to glutathione peroxidase deficiency, Autosomal recessive	.	33	116	273	343	757	1716	0.805206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	62247.2	96	chr3	49358240	.	GGCCGCC	G,GGCC	62247.2	.	AC=20,13;AF=0.476,0.310;AN=42;BaseQRankSum=0.442;DP=2322;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=20,13;MLEAF=0.476,0.310;MQ=56.82;MQRankSum=-5.003e+00;QD=32.09;ReadPosRankSum=-2.300e-01;SOR=0.702	GT:AD:DP:GQ:PL	0/2:56,0,55:111:99:2142,2310,4619,0,2309,2143	0	4	6	0
chr3	51993843	51993843	-	CCTTGG	exonic	RPL29	.	nonframeshift insertion	RPL29:NM_000992:exon4:c.385_386insCCAAGG:p.K130_D131insAK,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	9890.36	23	chr3	51993837	.	TCCTTGG	TCCTTGGCCTTGG,T	9890.36	.	AC=10,8;AF=0.250,0.200;AN=40;BaseQRankSum=0.471;DP=604;ExcessHet=4.5531;FS=11.809;InbreedingCoeff=-0.2121;MLEAC=10,8;MLEAF=0.250,0.200;MQ=57.96;MQRankSum=0.00;QD=24.85;ReadPosRankSum=-3.600e-02;SOR=1.183	GT:AD:DP:GQ:PL	0/2:23,0,16:39:99:603,672,1628,0,956,908	5	0	8	1
chr3	52370511	52370511	G	A	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon40:c.G6293A:p.R2098H,	.	.	434	1087	1	0	0	1	0.00045977	.	.	452953	Spermatogenic_failure_18|Ciliary_dyskinesia,_primary,_37|DNAH1-related_disorder|not_provided|Primary_ciliary_dyskinesia	MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576|MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577|.|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.22	T	0.002	B	0.002	B	0.018	N	1.000	N	0.35	N	1.87	T	-1.038	T	0.035	T	0.11	0.352	5.909	3.72	1.130	2.996	10.301	0.027	0.00399438843683	0.0002	.	0.0003	0.0001	0.0003	0	0	0.0004	0	0.0001	0.000194	30	154602	rs373906923	0.0002	0.0002	0.0002	0.0002	0.0045	0.0002	0.0002	0.0032	0.0027	0.0002	0.0003	0.0021	0	0	0.0045	0.0001	0.0004	8.115e-05	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	9.233e-05	7.907e-05	5.993e-05	2.406e-05	0	0.0001	0.0023	0	0	0	0.0001	0.0014	0	0.282	0.15406	T	0.19	0.28482	T	.	.	.	.	.	.	0.018330	0.27508	N	0.257589	0.999988	0.18198	N	.	.	.	1.87	0.24085	T	-1.8	0.42384	N	0.209	0.23253	-1.0375	0.18078	T	0.035	0.15117	T	10	0.020444632	0.00471	T	0.003994	0.09462	T	0.027	0.05988	.	.	0.229924730088	0.22615	0.3147806881512615	0.31391	0.15590108407	0.17597	0.288566231728	0.08715	T	.	.	.	-0.47583	0.00783	T	-0.619552	0.11221	T	0.0214011054486036	0.00843	T	0.771723	0.40231	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.16538	B	.	.	2.673364	0.34861	19.74	0.81713927501707229	0.13823	0.73185	0.35802	D	AEFGBI	0.176379	0.30358	N	-0.494394326367777	0.22264	1.187572	-0.372375048052936	0.25824	1.422546	0.881710019106949	0.25637	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.61	3.72	0.41857	3.904000	0.56038	4.976000	0.46431	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.278000	0.23967	0.1686:0.0:0.8314:0.0	10.301	0.42831	72	0.96948	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2280.98	36	chr3	52370511	.	G	A	2280.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.868;DP=864;ExcessHet=0.0000;FS=1.181;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-8.290e-01;SOR=0.802	GT:AD:DP:GQ:PL	0/1:82,91:173:99:2295,0,1863	20	0	1	0
chr3	52386735	52386735	A	C	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon56:c.A8885C:p.K2962T,	.	.	427	1091	4	0	0	4	0.00182983	.	.	452976	Spermatogenic_failure_18|Ciliary_dyskinesia,_primary,_37|not_provided|DNAH1-related_disorder	MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576|MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.984	D	0.907	P	0.007	N	1.000	D	3.045	M	-0.87	T	0.349	D	0.599	D	0.478	4.334	22.8	4.16	1.754	7.096	13.384	0.515	0.135071693243	0.0007	.	0.0010	0.0003	0.0011	0	0	0.0017	0.0035	0.0002	0.0003881	60	154602	rs199602894	0.0004	0.0004	0.0004	0.0004	0.0070	0.0004	0.0003	0.0053	0.0047	0.0010	0.0008	0.0020	0	3.876e-05	0.0070	0.0003	0.0009	0.0001	0.0005	0.0005	0.0004	0.0005	0.0017	0.0004	0.0004	0.0012	0.0010	0.0002	0	0.0017	0.0023	0	9.418e-05	0	0.0004	0.0019	0	0.005	0.63226	D	0.076	0.42614	T	.	.	.	.	.	.	0.006766	0.31811	N	0.215153	0.999997	0.58761	D	.	.	.	-0.87	0.74583	T	-5.37	0.84882	D	0.499	0.53181	0.349	0.88329	D	0.599	0.85705	D	10	0.07671729	0.12018	T	0.135072	0.81752	D	0.515	0.79279	.	.	0.617178876719	0.61408	0.7006252848366341	0.70003	0.598721334752	0.55030	0.737116992474	0.72548	T	.	.	.	-0.14962	0.28370	T	-0.0963179	0.63681	T	0.104490758152325	0.12843	T	0.927507	0.73308	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.553	0.66910	A	.	.	4.130966	0.61814	24.4	0.99746767877117237	0.83927	0.98649	0.85128	D	AEFI	0.768303	0.70391	D	0.699202303297942	0.79581	7.107781	0.611464249342642	0.75770	6.369918	0.999992688431181	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.16	4.16	0.48138	7.299000	0.78160	5.461000	0.48672	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	13.384	0.60227	70	0.97015	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1437.98	40	chr3	52386735	.	A	C	1437.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.940e-01;DP=814;ExcessHet=0.0000;FS=0.725;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=0.833;SOR=0.609	GT:AD:DP:GQ:PL	0/1:45,62:107:99:1452,0,990	20	0	1	0
chr3	56619786	56619786	A	-	exonic	CCDC66	.	frameshift deletion	CCDC66:NM_001353151:exon16:c.2546delA:p.K850Nfs*20	.	.	436	1081	5	0	0	5	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	.	0.0002	9.63e-05	0.0003	0	0	0.0003	0.0011	0.0002	0.000194	30	154602	rs764896167	0.0002	0.0002	0.0002	0.0002	0.0085	0.0002	0.0002	0.0066	0.0059	0.0001	0.0002	0.0014	0	0	0.0085	0.0001	0.0005	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0	0	6.545e-05	0.0009	0	0	0.0102	0.0002	0.0024	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1910.94	34	chr3	56619785	.	CA	C	1910.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.241;DP=805;ExcessHet=0.0000;FS=0.793;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.11;ReadPosRankSum=-2.700e-01;SOR=0.537	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,50:100:99:0|1:56619785_CA_C:1925,0,1916:56619785	20	0	1	0
chr3	56619792	56619792	G	C	exonic	CCDC66	.	nonsynonymous SNV	CCDC66:NM_001353151:exon16:c.G2552C:p.R851P	.	.	436	1081	5	0	0	5	0.00230734	.	.	3295906	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.0	B	0.001	B	0.269	N	1.000	N	1.175	L	1.65	T	-1.038	T	0.047	T	0.373	1.297	10.25	-1.11	-0.106	0.145	5.647	0.099	0.00691342597739	.	.	0.0002	9.621e-05	0.0003	0	0	0.0003	0.0011	0.0002	0.000194	30	154602	rs146236480	0.0002	0.0002	0.0002	0.0002	0.0085	0.0002	0.0002	0.0066	0.0059	0.0001	0.0002	0.0014	0	0	0.0085	0.0001	0.0005	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0	0	6.539e-05	0.0009	0	0	0.0102	0.0002	0.0024	0.0004	0.019	0.50132	D	0.02	0.58613	D	0.0	0.02946	B	0.001	0.04355	B	0.269297	0.15159	N	0.595021	1	0.08975	N	1.32	0.33002	L	1.64	0.27822	T	-0.9	0.24244	N	0.328	0.39457	-1.0380	0.17924	T	0.047	0.20195	T	10	0.028132677	0.00949	T	0.006913	0.18289	T	0.099	0.28413	0.134	0.03833	0.110078149338	0.10416	0.20748871332900903	0.20664	0.0545315573649	0.06029	0.208719193935	0.00758	T	0.232915	0.59959	T	-0.396879	0.02427	T	-0.511673	0.21143	T	0.0473136437796111	0.05021	T	0.684632	0.29288	T	0.19841063	0.41743	0.15912203	0.37126	0.19841063	0.41743	0.15912203	0.37126	-3.822	0.21134	T	.	.	0.132	0.32827	B	.;.	.;.	0.961981	0.13387	9.891	0.79770417554119111	0.12893	0.11637	0.16764	N	AEFGBI	0.131063	0.24985	N	-1.26419210663798	0.04115	0.1851172	-1.32125975948523	0.04156	0.1954348	0.0116148913261676	0.12211	0.660377	0.49826	0	0.546412	0.12157	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	4.22	-1.11	0.09336	0.023000	0.13424	0.035000	0.13787	-0.704000	0.03997	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.399:0.2109:0.39:0.0	5.647	0.16871	285	0.88719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1904.98	34	chr3	56619792	.	G	C	1904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.68;ReadPosRankSum=-3.330e-01;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,50:102:99:0|1:56619785_CA_C:1919,0,1959:56619785	20	0	1	0
chr3	69216325	69216325	G	C	exonic	FRMD4B	.	nonsynonymous SNV	FRMD4B:NM_015123:exon11:c.C814G:p.L272V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.994	D	0.000	D	1.000	D	1.59	L	-3.0	D	0.524	D	0.713	D	0.603	4.122	21.3	5.44	2.546	7.127	18.039	0.743	.	0.0039	0.00439297	0.0025	0.0224	0.0007	0	0	0	0	0.0001	0.0010284	159	154602	rs146672127	0.0005	0.0005	0.0005	0.0004	0.0179	0.0004	0.0004	0.0167	0.0162	0.0179	0.0005	0	0	0	0	2.773e-06	0.0009	2.455e-05	0.0050	0.0050	0.0054	0.0047	0.0177	0.0047	0.0046	0.0166	0.0162	0.0177	0	0.0013	0	0	0	0	4.413e-05	0.0028	0	0.055	0.38407	T	0.0	0.92824	D	0.972	0.57405	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.49	0.37298	L	-3.0	0.92158	D	-1.98	0.49846	N	0.861	0.85766	0.524	0.90883	D	0.713	0.90159	D	10	0.012909919	0.00276	T	.	.	.	0.743	0.91112	.	.	0.839248863978	0.83771	0.5091908434849498	0.50841	0.335228643753	0.35531	0.633434653282	0.57632	T	0.353528	0.72081	T	-0.141925	0.29583	T	0.0369833	0.72731	D	0.0208648163053774	0.00787	T	0.985201	0.94902	D	0.36877158	0.58494	0.31114182	0.57122	0.36877158	0.58494	0.31114182	0.57121	-10.21	0.75159	D	.	.	0.532	0.66003	A	.;.	.;.	5.232401	0.87830	29.4	0.99808399335234654	0.89264	0.97743	0.76812	D	AEFBI	0.848464	0.76529	D	0.731054339870126	0.81668	7.576509	0.738120285851666	0.85266	8.52986	0.999999999999028	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.653264	0.51672	0	0.735409	0.98432	0	.	.	5.44	5.44	0.79348	9.343000	0.96451	11.726000	0.94905	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.039	0.89238	560	0.71333	FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain;FERM domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1410.98	50	chr3	69216325	.	G	C	1410.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.831e+00;DP=1124;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=1.20;SOR=0.734	GT:AD:DP:GQ:PL	0/1:52,62:114:99:1425,0,1239	20	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S,	.	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	49921.47	133	chr3	75730451	.	T	G	49921.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.927e+00;DP=2763;ExcessHet=51.1880;FS=6.167;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=54.60;MQRankSum=-6.357e+00;QD=18.50;ReadPosRankSum=1.68;SOR=0.393	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,86:169:99:0|1:75730450_C_T:3320,0,3206:75730450	0	0	20	1
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*	.	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	13057.87	155	chr3	75736884	.	G	GA	13057.87	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.070e-01;DP=3250;ExcessHet=25.1139;FS=1.336;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=56.86;MQRankSum=-7.182e+00;QD=4.87;ReadPosRankSum=0.148;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:160,27:187:99:.:.:221,0,6180	4	0	17	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F	.	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.024	B	0.002	B	.	.	1.000	N	0	N	3.37	T	-0.932	T	0.010	T	0.477	1.695	11.63	-0.734	-0.244	-0.140	5.509	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	30918.43	158	chr3	75736891	.	G	A	30918.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.300e-01;DP=3330;ExcessHet=43.6797;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=57.04;MQRankSum=-9.187e+00;QD=9.77;ReadPosRankSum=0.205;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,59:196:99:0|1:75736891_G_A:2001,0,5506:75736891	1	0	20	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D	.	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.111	B	0.006	B	.	.	1.000	N	0	N	3.39	T	-0.948	T	0.010	T	0.567	0.479	6.601	-0.249	-0.078	-0.941	3.115	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28820.74	164	chr3	75736920	.	C	A	28820.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.130e-01;DP=3467;ExcessHet=54.0936;FS=2.025;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.55;MQRankSum=-8.791e+00;QD=8.35;ReadPosRankSum=0.030;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,50:199:99:0|1:75736891_G_A:1651,0,6106:75736891	0	0	21	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I	.	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.219	B	0.007	B	.	.	1.000	N	0	N	3.47	T	-0.947	T	0.008	T	0.512	0.877	8.556	0.364	0.148	-0.065	3.729	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28464.74	166	chr3	75736928	.	C	T	28464.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.43;DP=3516;ExcessHet=54.0936;FS=0.608;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.92;MQRankSum=-9.076e+00;QD=8.18;ReadPosRankSum=-5.000e-02;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,49:201:99:0|1:75736891_G_A:1600,0,6214:75736891	0	0	21	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R	.	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.02	B	0.004	B	.	.	1.000	N	0	N	5.46	T	-0.923	T	0.002	T	0.494	-0.366	2.277	-0.78	-0.138	-1.375	1.651	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	17679.81	152	chr3	75736981	.	T	C	17679.81	.	AC=17;AF=0.500;AN=34;BaseQRankSum=-2.640e-01;DP=3565;ExcessHet=25.1139;FS=0.572;InbreedingCoeff=-0.8248;MLEAC=19;MLEAF=0.559;MQ=52.43;MQRankSum=-7.792e+00;QD=6.08;ReadPosRankSum=-1.711e+00;SOR=0.773	GT:AD:DP:GQ:PL	0/1:153,21:174:18:18,0,5177	0	0	17	4
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K	.	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.049	B	0.048	B	.	.	1.000	N	-0.705	N	2.16	T	-0.957	T	0.015	T	0.509	0.585	7.159	-0.008	0.009	-2.650	2.041	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	25498.56	170	chr3	75737012	.	C	T	25498.56	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-8.280e-01;DP=3725;ExcessHet=36.0830;FS=0.550;InbreedingCoeff=-0.8529;MLEAC=19;MLEAF=0.475;MQ=53.26;MQRankSum=-5.813e+00;QD=7.76;ReadPosRankSum=-2.080e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/1:144,37:181:99:380,0,4468	1	0	19	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P	.	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.178	B	0.056	B	.	.	1.000	N	2.8	M	3.15	T	-1.043	T	0.033	T	0.597	1.732	11.75	1.59	1.020	-3.336	7.316	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	33734.43	171	chr3	75737060	.	A	G	33734.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.003e+00;DP=4296;ExcessHet=43.6797;FS=0.535;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.79;MQRankSum=-5.923e+00;QD=8.57;ReadPosRankSum=1.41;SOR=0.754	GT:AD:DP:GQ:PL	0/1:148,86:234:99:1918,0,5817	1	0	20	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y	.	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	.	.	1.000	N	3.55	H	-1.94	D	-0.050	T	0.770	D	0.423	2.226	13.40	0.518	0.202	3.803	5.69	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	66693.74	186	chr3	75737092	.	C	T	66693.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.370e+00;DP=4347;ExcessHet=54.0936;FS=3.268;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.30;MQRankSum=-9.287e+00;QD=15.47;ReadPosRankSum=0.780;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,87:247:99:0|1:75737092_C_T:3171,0,6456:75737092	0	0	21	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S	.	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.003	B	.	.	0.811	N	0.185	N	2.5	T	-0.966	T	0.015	T	0.48	0.761	8.026	-1.65	-0.344	-3.350	0.098	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	66461.74	187	chr3	75737094	.	T	A	66461.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.054e+00;DP=4329;ExcessHet=54.0936;FS=4.136;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.41;MQRankSum=-9.552e+00;QD=15.42;ReadPosRankSum=0.880;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,87:246:99:0|1:75737092_C_T:3174,0,6414:75737092	0	0	21	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X	.	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.506	37	1.59	1.020	2.954	7.316	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	64403.74	176	chr3	75737105	.	T	A	64403.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.795e+00;DP=4269;ExcessHet=54.0936;FS=5.083;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.87;MQRankSum=-1.015e+01;QD=15.17;ReadPosRankSum=0.373;SOR=1.023	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,86:245:99:0|1:75737092_C_T:3133,0,6418:75737092	0	0	21	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q	.	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.738	P	0.672	P	.	.	1.000	N	3.595	H	-2.18	D	0.069	D	0.747	D	0.504	1.222	9.956	0.372	0.124	0.275	4.797	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	54907.74	170	chr3	75737127	.	A	C	54907.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.246e+00;DP=4011;ExcessHet=54.0936;FS=5.236;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.48;MQRankSum=-1.090e+01;QD=13.78;ReadPosRankSum=0.018;SOR=1.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,72:233:99:0|1:75737092_C_T:2539,0,6544:75737092	0	0	21	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del	.	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	31686.7	129	chr3	75737163	.	CCTACATTCT	C	31686.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.49;DP=3384;ExcessHet=54.0936;FS=14.269;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.84;MQRankSum=-1.107e+01;QD=9.48;ReadPosRankSum=-6.730e-01;SOR=1.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,39:195:99:0|1:75737092_C_T:1168,0,6395:75737092	0	0	21	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S	.	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.588	P	0.118	B	.	.	1.000	N	0.78	N	3.45	T	-0.962	T	0.011	T	0.402	2.344	13.80	0.281	0.088	6.618	6.406	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	84334.74	182	chr3	75737519	.	G	A	84334.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.22;DP=4534;ExcessHet=54.0936;FS=3.213;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.20;MQRankSum=-6.820e+00;QD=19.56;ReadPosRankSum=0.348;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:133,143:276:99:.:.:5395,0,5107	0	0	21	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T	.	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.011	B	0.007	B	.	.	1.000	N	-0.05	N	3.17	T	-0.913	T	0.010	T	0.467	-0.210	2.980	-2.35	-0.437	-5.897	5.111	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	93431.74	214	chr3	75737590	.	A	G	93431.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.450e-01;DP=4965;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.17;MQRankSum=-1.228e+01;QD=19.03;ReadPosRankSum=0.838;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,143:302:99:0|1:75737590_A_G:5503,0,6232:75737590	0	0	21	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R	.	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.003	B	0.003	B	.	.	1.000	N	-0.66	N	3.16	T	-0.950	T	0.008	T	0.327	0.845	8.413	-3.14	-1.861	-0.144	4.750	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	99264.74	227	chr3	75737608	.	T	C	99264.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.102;DP=5151;ExcessHet=54.0936;FS=0.516;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=52.90;MQRankSum=-1.341e+01;QD=19.33;ReadPosRankSum=0.322;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,151:314:99:0|1:75737590_A_G:5850,0,6390:75737590	0	0	21	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S	.	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.89	P	0.451	P	.	.	1.000	N	2.965	M	2.96	T	-1.054	T	0.045	T	0.468	1.519	11.03	0.405	0.127	-1.802	5.213	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	101560.74	248	chr3	75737622	.	T	A	101560.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.388e+00;DP=5296;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.40;MQRankSum=-1.311e+01;QD=19.29;ReadPosRankSum=-1.560e-01;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,156:323:99:0|1:75737590_A_G:6048,0,6543:75737590	0	0	21	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C	.	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.994	D	0.387	B	.	.	1.000	N	1.355	L	5.42	T	-0.871	T	0.003	T	0.447	0.648	7.478	0.774	0.291	-3.025	2.500	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	104187.74	246	chr3	75737651	.	G	A	104187.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.82;DP=5303;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.27;MQRankSum=-1.184e+01;QD=19.78;ReadPosRankSum=-8.750e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,147:309:99:0|1:75737590_A_G:5685,0,6360:75737590	0	0	21	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X	.	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.220	37	1.71	1.073	0.059	3.984	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	99202.74	235	chr3	75737676	.	A	T	99202.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.21;DP=4967;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.83;MQRankSum=-9.816e+00;QD=20.18;ReadPosRankSum=-1.028e+00;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,122:264:99:0|1:75737590_A_G:4695,0,5595:75737590	0	0	21	0
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R	.	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.035	B	0.038	B	.	.	1.000	N	4.015	H	-2.18	D	0.078	D	0.691	D	0.467	1.068	9.361	0.513	0.158	2.178	5.415	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	26024.74	185	chr3	75737881	.	T	C	26024.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.184e+00;DP=4449;ExcessHet=54.0936;FS=19.179;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.45;MQRankSum=-7.835e+00;QD=6.19;ReadPosRankSum=-4.722e+00;SOR=1.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:217,53:270:99:0|1:75737881_T_C:1250,0,8758:75737881	0	0	21	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	19918.7	193	chr3	75737891	.	G	GAAAT	19918.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.779;DP=4144;ExcessHet=54.0936;FS=22.520;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.28;MQRankSum=-8.489e+00;QD=4.94;ReadPosRankSum=-4.220e+00;SOR=2.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,35:253:99:0|1:75737881_T_C:738,0,9003:75737881	0	0	21	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del	.	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18824.7	191	chr3	75737893	.	A	ACTT	18824.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.081;DP=4075;ExcessHet=54.0936;FS=23.299;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.20;MQRankSum=-8.682e+00;QD=4.74;ReadPosRankSum=-3.534e+00;SOR=2.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:219,33:252:99:0|1:75737881_T_C:676,0,9031:75737881	0	0	21	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K	.	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.236	B	0.014	B	.	.	1.000	N	0.635	N	3.2	T	-0.977	T	0.011	T	0.371	1.043	9.260	-3.59	-1.049	-1.278	0.971	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4167	9964.28	257	chr3	75738008	.	C	T	9964.28	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-1.381e+00;DP=4529;ExcessHet=17.4423;FS=5.547;InbreedingCoeff=-0.6412;MLEAC=16;MLEAF=0.444;MQ=57.21;MQRankSum=-1.159e+01;QD=2.93;ReadPosRankSum=3.26;SOR=1.304	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:265,32:297:99:0|1:75737994_T_C:515,0,10874:75737994	3	0	15	3
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F	.	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.888	P	0.346	B	.	.	1.000	N	1.18	L	3.18	T	-1.017	T	0.014	T	0.416	0.583	7.147	-3.58	-1.068	-1.364	4.138	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3611	6970.11	234	chr3	75738053	.	C	A	6970.11	.	AC=13;AF=0.361;AN=36;BaseQRankSum=-2.270e+00;DP=4323;ExcessHet=11.8493;FS=4.208;InbreedingCoeff=-0.5294;MLEAC=14;MLEAF=0.389;MQ=57.15;MQRankSum=-1.006e+01;QD=2.47;ReadPosRankSum=-1.315e+00;SOR=1.290	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:246,22:268:99:0|1:75738051_G_T:183,0,10263:75738051	5	0	13	3
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E	.	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.981	D	0.792	P	.	.	1.000	N	1.63	L	1.0	T	-1.005	T	0.128	T	0.5	0.800	8.209	0.059	0.039	0.285	5.008	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4524	5856.69	126	chr3	75739165	.	C	T	5856.69	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-8.800e-02;DP=2841;ExcessHet=36.0830;FS=16.853;InbreedingCoeff=-0.8321;MLEAC=19;MLEAF=0.452;MQ=57.03;MQRankSum=-7.844e+00;QD=2.33;ReadPosRankSum=-1.424e+00;SOR=1.267	GT:AD:DP:GQ:PL	0/1:120,24:144:99:379,0,3500	2	0	19	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K	.	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.588	P	0.118	B	.	.	1.000	N	0.805	L	0.91	T	-1.039	T	0.052	T	0.501	-1.711	0.011	-0.13	-0.008	-0.013	8.996	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	13994.74	75	chr3	75739283	.	G	T	13994.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.485e+00;DP=2154;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.74;MQRankSum=-4.923e+00;QD=6.68;ReadPosRankSum=0.840;SOR=0.744	GT:AD:DP:GQ:PL	0/1:68,42:110:99:879,0,1856	0	0	21	0
chr3	98132879	98132879	T	C	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.T182C:p.L61S,	.	.	440	1076	5	1	0	7	0.00324224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.447	B	0.128	B	0.195	N	1.000	N	1.255	L	7.21	T	-0.884	T	0.001	T	0.555	0.581	7.135	3.57	1.481	2.533	10.101	0.129	0.00213903153302	0.0002	.	0.0002	0	8.72e-05	0	0	0.0004	0	0.0001	7.68e-05	2	26028	rs374301921	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	2.989e-05	0.0003	0.0005	0	0	0.0014	0.0002	0.0004	0.0001	0.0003	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	4.815e-05	0	0.0008	0.0003	0	0	0	0.0003	0.0014	0	0.048	0.40068	D	0.042	0.50226	D	0.447	0.36006	B	0.128	0.32786	B	0.195283	0.16740	N	0.440664	0.999953	0.19072	N	1.195	0.30194	L	7.21	0.00433	T	-4.18	0.75537	D	0.451	0.48872	-0.8839	0.49448	T	0.001	0.00408	T	10	0.05077949	0.04862	T	0.002139	0.03989	T	0.129	0.35316	.	.	0.389904358541	0.38601	0.2927559015561627	0.29188	0.380299228091	0.39395	0.236000180244	0.02442	T	0.008446	0.07757	T	-0.361617	0.04039	T	-0.451238	0.27561	T	0.105943620204926	0.12998	T	0.690631	0.30012	T	0.3050177	0.53351	0.32545573	0.58461	0.3050177	0.53351	0.32545573	0.58460	-6.408	0.49572	T	.	.	0.388	0.58913	A	.;.	.;.	2.687056	0.35067	19.80	0.98003586155743949	0.37498	0.22861	0.21887	N	AEFI	0.119934	0.23385	N	-0.395874126374815	0.25616	1.391831	-0.410365089986413	0.24693	1.353641	2.96292211136304E-4	0.06406	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	3.57	0.40014	2.210000	0.42455	.	.	0.430000	0.20916	0.029000	0.20367	0.000000	0.08366	0.012000	0.09680	0.0:0.0:0.0:1.0	10.101	0.41677	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5824.98	84	chr3	98132879	.	T	C	5824.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.97;DP=2100;ExcessHet=0.0000;FS=1.102;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.53;MQRankSum=-2.886e+00;QD=13.52;ReadPosRankSum=0.316;SOR=0.820	GT:AD:DP:GQ:PL	0/1:215,216:431:99:5839,0,5821	20	0	1	0
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.217	B	0.064	B	0.130	N	1.000	N	0.69	N	2.23	T	-0.991	T	0.069	T	0.165	-0.071	3.653	-1.84	-0.269	-0.189	9.015	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4048	2827.45	43	chr3	100775333	.	T	C	2827.45	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-7.940e-01;DP=858;ExcessHet=25.1139;FS=205.111;InbreedingCoeff=-0.6641;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=4.20;ReadPosRankSum=0.283;SOR=11.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,25:43:99:0|1:100775333_T_C:502,0,276:100775333	4	0	17	0
chr3	101726726	101726726	G	A	exonic	CEP97	.	nonsynonymous SNV	CEP97:NM_001303401:exon2:c.G176A:p.R59Q	.	.	443	1058	20	1	0	22	0.01029	.	.	697731	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.11	T	0.05	B	0.005	B	0.086	N	1.000	N	-0.08	N	2.25	T	-1.027	T	0.020	T	0.136	1.306	10.28	1.21	0.001	0.305	8.439	0.011	.	0.0062	0.00359425	0.0049	0.0018	0.0032	0	0.0021	0.0070	0.0068	0.0032	0.0049029	758	154602	rs111912421	0.0055	0.0055	0.0054	0.0055	0.0149	0.0054	0.0053	0.0123	0.0113	0.0009	0.0047	0.0101	0	0.0023	0.0149	0.0059	0.0055	0.0038	0.0043	0.0043	0.0045	0.0040	0.0061	0.0040	0.0039	0.0057	0.0055	0.0012	0	0.0055	0.0092	0	0.0018	0.0170	0.0061	0.0099	0.0041	0.488	0.08042	T	0.399	0.17217	T	0.0	0.22331	B	0.001	0.11217	B	0.086353	0.20592	N	0.522230	0.999948	0.19238	N	0.26	0.09897	N	1.85	0.24472	T	-0.43	0.15782	N	0.169	0.19190	-1.0270	0.21429	T	0.020	0.08220	T	10	0.0071690083	0.00163	T	.	.	.	0.011	0.01250	.	.	0.126345400529	0.12197	0.15193629144885137	0.15115	0.154575907448	0.17459	0.223914563656	0.01548	T	0.025059	0.18811	T	-0.608585	0.00129	T	-0.641839	0.09536	T	0.00445689653772084	0.00048	T	0.712229	0.32360	T	0.028845077	0.02286	0.029281542	0.01249	0.023598185	0.01112	0.029281542	0.01249	-8.115	0.61852	D	0.14944447779688108	0.17476	0.059	0.02927	B	.;.	.;.	1.445491	0.18657	13.86	0.96849303875392245	0.31335	0.40495	0.26449	N	AEFGBI	0.054901	0.10023	N	-0.747383033918041	0.14705	0.7347482	-0.603242862989842	0.19408	1.041218	0.999128319930685	0.38507	0.651	0.46895	0	0.685571	0.66316	0	0.65145	0.50148	0	0.563494	0.21769	0	.	.	4.82	1.21	0.20240	0.393000	0.20543	-0.639000	0.08086	-0.113000	0.14837	0.855000	0.30528	0.000000	0.08366	0.976000	0.56436	0.5956:0.0:0.4044:0.0	8.439	0.31967	788	0.46569	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1029.98	34	chr3	101726726	.	G	A	1029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=768;ExcessHet=0.0000;FS=0.889;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=0.265;SOR=0.846	GT:AD:DP:GQ:PL	0/1:39,40:79:99:1044,0,932	20	0	1	0
chr3	113283465	113283465	C	G	exonic	BOC	.	nonsynonymous SNV	BOC:NM_001301861:exon16:c.C2489G:p.P830R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.017	B	0.014	B	0.000	D	1.000	D	1.67	L	0.18	T	-0.923	T	0.151	T	0.459	0.969	8.954	4.07	0.820	0.741	9.152	0.176	0.0315843737034	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1299900806	6.843e-07	6.84e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.55530	D	0.043	0.49942	D	0.005	0.14655	B	0.006	0.16862	B	0.000076	0.52346	D	0.169981	0.908865	0.36358	D	1.845	0.48678	L	0.18	0.60361	T	-1.51	0.36787	N	0.3	0.35620	-0.9231	0.45126	T	0.151	0.47926	T	10	0.24385002	0.41606	T	0.031584	0.53633	D	0.176	0.44373	0.355	0.35571	0.682699284585	0.67999	0.6543970513681344	0.65375	0.249889110604	0.27567	0.392149984837	0.23972	T	0.412583	0.76670	T	-0.0597547	0.42946	T	-0.32361	0.42176	T	0.345845639705658	0.26855	T	0.506749	0.16047	T	0.061679024	0.12799	0.0811567	0.18421	0.061679024	0.12798	0.0811567	0.18420	-4.681	0.33173	T	.	.	0.114	0.23430	B	.;.;.	.;.;.	1.230956	0.16258	12.42	0.96691339663774234	0.30737	0.73331	0.35872	D	AEFDBI	0.209376	0.33537	N	-0.803040013380249	0.13232	0.6504248	-0.770046517314544	0.15230	0.7999831	0.999144063120877	0.38563	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.85	4.07	0.46726	0.864000	0.27581	0.620000	0.20121	-0.189000	0.09497	0.040000	0.20979	0.004000	0.18990	0.034000	0.13613	0.3128:0.6167:0.0:0.0704	9.152	0.36129	563	0.71062	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	581.98	34	chr3	113283465	.	C	G	581.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.222e+00;DP=740;ExcessHet=0.0000;FS=6.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=-3.210e-01;SOR=0.186	GT:AD:DP:GQ:PL	0/1:24,27:51:99:596,0,677	20	0	1	0
chr3	113657270	113657272	TGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4412del:p.Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/4:0,30,0,0,39,0:69:99:2672,1555,1632,2720,1647,2808,2720,1647,2808,2808,1187,0,1208,1208,1094,2720,1647,2808,2808,1208,2808	0	4	0	0
chr3	113657267	113657272	TGCTGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4415del:p.Q1477_Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/4:0,30,0,0,39,0:69:99:2672,1555,1632,2720,1647,2808,2720,1647,2808,2808,1187,0,1208,1208,1094,2720,1647,2808,2808,1208,2808	0	4	0	0
chr3	113657272	113657272	-	TGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCA:p.Q1478_A1479insQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/4:0,30,0,0,39,0:69:99:2672,1555,1632,2720,1647,2808,2720,1647,2808,2808,1187,0,1208,1208,1094,2720,1647,2808,2808,1208,2808	0	4	0	0
chr3	113657272	113657272	-	TGCTGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCAGCA:p.Q1478_A1479insQQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/4:0,30,0,0,39,0:69:99:2672,1555,1632,2720,1647,2808,2720,1647,2808,2808,1187,0,1208,1208,1094,2720,1647,2808,2808,1208,2808	0	4	0	0
chr3	114299647	114299647	G	A	exonic	TIGIT	.	nonsynonymous SNV	TIGIT:NM_173799:exon3:c.G442A:p.A148T,	.	.	.	.	.	.	.	.	.	.	.	3335919	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.8	T	0.003	B	0.0	B	0.133	N	1.000	N	0.46	N	0.51	T	-1.000	T	0.073	T	0.253	-1.340	0.030	-8.19	-2.557	-2.907	8.674	0.068	0.00701679178193	7.7e-05	.	2.476e-05	0	8.648e-05	0	0	3.001e-05	0	0	2.59e-05	4	154602	rs369133784	9.719e-05	9.713e-05	0.0001	8.805e-05	0.0002	8.381e-05	7.919e-05	9.204e-05	8.612e-05	0.0001	4.472e-05	0	0	1.898e-05	0.0002	0.0001	0.0002	2.319e-05	4.601e-05	4.597e-05	6.424e-05	2.691e-05	7.244e-05	2.11e-05	1.527e-05	1.972e-05	1.124e-05	7.244e-05	0	0	0	0	0	0	5.879e-05	0	0	1.0	0.00964	T	0.966	0.02509	T	0.003	0.11197	B	0.0	0.01387	B	0.133134	0.02825	N	1.743640	1	0.08975	N	0.41	0.12415	N	0.51	0.56446	T	0.42	0.03579	N	0.105	0.11340	-0.9997	0.30002	T	0.073	0.29419	T	10	0.031862438	0.01327	T	0.007017	0.18594	T	0.068	0.19811	.	.	0.0482279557977	0.04254	0.29680220329941315	0.29593	0.0999092227238	0.11286	0.230759099126	0.02025	T	0.009739	0.21560	T	-0.348724	0.04808	T	-0.562848	0.16111	T	0.0323108326455219	0.02357	T	0.430757	0.11694	T	0.018187964	0.00340	0.04456372	0.05802	0.018187964	0.00340	0.04456372	0.05802	-5.379	0.40717	T	.	.	0.070	0.04517	B	.;.;.;.;.	.;.;.;.;.	-1.394029	0.00364	0.007	0.77371945262846054	0.11848	0.01552	0.05086	N	AEFDGBHCI	0.028899	0.02629	N	-1.99056846167888	0.00222	0.009499896	-2.09058998873111	0.00195	0.008597989	0.999999999999684	0.74766	0.55562	0.30534	0	0.491513	0.07743	0	0.68496	0.61776	0	0.636	0.56748	0	.	.	4.09	-8.19	0.00922	-2.928000	0.00756	-0.640000	0.08082	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1485:0.0:0.5321:0.3194	8.674	0.33329	759	0.50631	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1281.98	33	chr3	114299647	.	G	A	1281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.398e+00;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=-1.740e-01;SOR=0.618	GT:AD:DP:GQ:PL	0/1:29,55:84:99:1296,0,616	20	0	1	0
chr3	115676196	115676196	G	C	exonic	GAP43	.	nonsynonymous SNV	GAP43:NM_002045:exon2:c.G214C:p.A72P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.771	P	0.383	B	0.026	N	1.000	N	1.61	L	0.81	T	-0.975	T	0.114	T	0.339	1.198	9.869	3.74	1.291	2.358	6.183	0.066	0.0138723661589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.164e-06	0.0001	6.814e-06	5.506e-06	0.0002	2.9e-06	2.1e-06	2.62e-06	1.69e-06	0	0	0	0	0	0.0002	6.304e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.48186	D	0.116	0.48594	T	0.371	0.34093	B	0.27	0.39872	B	0.026388	0.25927	N	0.380184	1	0.08975	N	1.935	0.51832	L	0.81	0.48460	T	-1.44	0.36385	N	0.115	0.13055	-0.9747	0.36191	T	0.114	0.40559	T	10	0.13199726	0.25123	T	0.013872	0.33594	T	0.066	0.19193	0.401	0.43081	0.482646159919	0.47895	0.13216878396780574	0.13141	0.27922568898	0.30403	0.315461575985	0.12734	T	0.20433	0.56307	T	-0.115191	0.33911	T	-0.403241	0.33007	T	0.650220215320587	0.38471	D	0.59824	0.32735	T	0.29186904	0.52166	0.3267469	0.58579	0.29186904	0.52166	0.3267469	0.58578	-5.243	0.39376	T	.	.	0.142	0.35247	B	.;.	.;.	2.241624	0.28623	17.86	0.9963283397870325	0.76142	0.37808	0.25845	N	AEFBI	0.528119	0.54978	D	-0.309158098030579	0.28799	1.591533	-0.403764697157965	0.24886	1.36534	1.52725511360971E-4	0.05650	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.542086	0.14980	0	.	.	4.62	3.74	0.42108	2.136000	0.41744	2.479000	0.32931	0.676000	0.76740	0.127000	0.23295	0.120000	0.22892	0.064000	0.16252	0.1644:0.1547:0.6809:0.0	6.183	0.19696	935	0.14827	Neuromodulin (GAP-43), C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	108.87	93	chr3	115676196	.	G	C	108.87	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-3.165e+00;DP=1834;ExcessHet=1.1607;FS=178.066;InbreedingCoeff=-0.1514;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.572;SOR=11.555	GT:AD:DP:GQ:PL	0/1:66,23:89:10:10,0,1305	15	0	5	1
chr3	126420157	126420157	G	A	exonic	CFAP100	.	nonsynonymous SNV	CFAP100:NM_182628:exon11:c.G1010A:p.R337Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.043	B	0.014	B	0.000	N	1.000	N	0.69	N	1.47	T	-1.077	T	0.010	T	0.086	0.137	4.734	-4.4	-0.953	-0.172	0.902	0.016	.	0.0050	0.00698882	0.0017	0.0190	0.0006	0	0	0.0002	0	0.0002	0.0016688	258	154602	rs59283185	0.0006	0.0006	0.0007	0.0005	0.0192	0.0006	0.0006	0.0180	0.0175	0.0192	0.0016	0	5.039e-05	0	0.0009	8.903e-05	0.0009	0.0002	0.0055	0.0055	0.0054	0.0056	0.0184	0.0052	0.0051	0.0174	0.0169	0.0184	0	0.0029	0	0	0	0	0.0002	0.0047	0.0002	0.393	0.10730	T	0.446	0.21478	T	0.026	0.21573	B	0.006	0.16862	B	0.000331	0.00568	N	4.873430	1	0.08975	N	.	.	.	1.47	0.31987	T	-0.36	0.13035	N	0.034	0.00942	-1.0766	0.08023	T	0.010	0.03492	T	10	0.0031832755	0.00054	T	.	.	.	0.016	0.02506	.	.	0.0297737177859	0.01360	0.1933221059007423	0.19250	0.110544938361	0.12480	0.18778707087	0.00188	T	0.00346	0.02869	T	-0.693245	0.00040	T	-0.753639	0.03346	T	0.00295621778038212	0.00031	T	0.484552	0.14745	T	0.01828033	0.00349	0.023728842	0.00386	0.01828033	0.00349	0.023728842	0.00386	-3.883	0.22303	T	.	.	0.075	0.05447	B	.;.	.;.	-0.289409	0.02665	0.341	0.79853804633878156	0.12931	0.00778	0.03198	N	AEFDBCIJ	0.015381	0.00290	N	-1.52862334434275	0.01664	0.07278397	-1.62303548969613	0.01521	0.06888175	0.999781692627588	0.43007	0.487112	0.14033	0	0.573888	0.26702	0	0.607795	0.38427	0	0.562822	0.20929	0	.	.	3.06	-4.4	0.03349	-0.197000	0.09519	-0.169000	0.11245	-1.725000	0.00723	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.254:0.3394:0.2398:0.1668	0.902	0.01196	864	0.32732	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1055.98	49	chr3	126420157	.	G	A	1055.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.27;DP=944;ExcessHet=0.0000;FS=2.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=2.06;SOR=0.979	GT:AD:DP:GQ:PL	0/1:53,42:95:99:1070,0,1249	20	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T,	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.813	P	0.991	D	0.000	D	1.000	D	3.135	M	.	.	0.283	D	0.586	D	0.853	4.605	25.1	5.96	2.285	8.040	16.434	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	1753.27	33	chr3	128055734	.	T	C	1753.27	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-2.562e+00;DP=1413;ExcessHet=14.4320;FS=89.774;InbreedingCoeff=-0.4973;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=0.471;SOR=10.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:40,19:59:99:.:.:102,0,819	7	0	14	0
chr3	128408210	128408210	T	G	exonic	EEFSEC	.	nonsynonymous SNV	EEFSEC:NM_021937:exon7:c.T1742G:p.F581C,	.	.	392	1129	1	0	0	1	0.000442674	.	.	720133	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.993	D	0.000	D	1.000	D	1.205	L	0.16	T	-0.759	T	0.122	T	0.255	2.863	15.54	4.95	1.859	4.875	13.191	0.313	.	0.0082	0.00958466	0.0021	0.0220	0.0013	0	0	0.0002	0.0011	0	0.0021086	326	154602	rs114096655	0.0006	0.0006	0.0007	0.0005	0.0212	0.0006	0.0006	0.0199	0.0194	0.0212	0.0012	0	0	0	0.0005	2.161e-05	0.0014	1.164e-05	0.0063	0.0063	0.0066	0.0059	0.0215	0.0059	0.0058	0.0203	0.0198	0.0215	0	0.0027	0	0	0	0	4.412e-05	0.0066	0	0.044	0.41096	D	0.12	0.35970	T	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.999309	0.81001	D	1.995	0.54099	M	0.16	0.60610	T	-5.88	0.88699	D	0.708	0.71143	-0.7591	0.57455	T	0.122	0.42441	T	10	0.009999007	0.00224	T	.	.	.	0.313	0.63482	.	.	0.785898684871	0.78391	0.7203146692391693	0.71974	0.204166068536	0.22834	0.706863880157	0.68139	T	0.422207	0.77335	T	-0.391903	0.02615	T	-0.318133	0.42779	T	0.0491669517679572	0.05352	T	.	.	.	0.7487497	0.80795	0.40914306	0.65212	0.7487497	0.80797	0.40914306	0.65212	-11.742	0.83572	D	.	.	0.920	0.84223	P	.	.	4.595664	0.72742	25.9	0.9899498630102922	0.50024	0.85892	0.45078	D	AEFDGBHCI	0.798769	0.72522	D	0.440442476643773	0.63664	4.60445	0.41230626347206	0.62329	4.446708	0.999999999982276	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.95	4.95	0.64894	5.255000	0.65279	7.822000	0.69787	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.826000	0.38927	0.0:0.0:0.0:1.0	13.191	0.59132	735	0.53711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1366.98	36	chr3	128408210	.	T	G	1366.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=843;ExcessHet=0.0000;FS=0.618;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.24;ReadPosRankSum=-1.232e+00;SOR=0.608	GT:AD:DP:GQ:PL	0/1:88,60:148:99:1381,0,2071	20	0	1	0
chr3	130379796	130379796	C	T	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon4:c.C1046T:p.P349L	.	.	428	1044	47	3	0	53	0.0247548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.696	P	0.283	B	.	.	1.000	N	1.79	L	-1.69	D	-0.446	T	0.458	T	0.173	2.298	13.64	5.34	2.503	1.076	12.876	0.228	.	.	0.00199681	0.0131	0.0005	0.0049	0	0	0.0039	0.0158	0.0279	0.0021539	333	154602	rs142949552	0.0030	0.0028	0.0023	0.0037	0.0240	0.0029	0.0029	0.0231	0.0227	0.0006	0.0015	0.0040	5.597e-05	0.0002	0.0226	0.0016	0.0043	0.0240	0.0021	0.0021	0.0019	0.0024	0.0204	0.0019	0.0019	0.0171	0.0159	0.0004	0	0.0015	0.0063	0	0.0005	0.0170	0.0021	0.0047	0.0204	0.017	0.51248	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.69	0.82985	D	-3.96	0.73579	D	0.058	0.02964	-0.4461	0.70529	T	0.458	0.78901	T	9	0.005708158	0.00127	T	.	.	.	0.228	0.52768	.	.	.	.	0.41726518107133853	0.41642	0.188780204204	0.21197	0.303890168667	0.10984	T	0.18915	0.54328	T	-0.378357	0.03190	T	-0.297336	0.45005	T	0.0376475582209328	0.03269	T	0.787421	0.42665	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26545	B	.	.	2.481712	0.32005	18.91	0.99593865867800668	0.73748	0.12434	0.17266	N	AEFDBI	0.155089	0.28022	N	-0.088144379818127	0.37910	2.212591	-0.0915332530468588	0.35738	2.071255	0.999450908489858	0.39788	0.742599	0.98188	0	0.588764	0.42986	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.34	5.34	0.75982	0.554000	0.23113	4.837000	0.45250	0.599000	0.40250	0.000000	0.06391	0.542000	0.25421	0.150000	0.20306	0.163:0.8369:0.0:0.0	12.876	0.57381	402	0.82617	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.09524	8044.92	39	chr3	130379796	.	C	T	8044.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.680e+00;DP=1213;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=14.44;ReadPosRankSum=-7.440e-01;SOR=0.692	GT:AD:DP:GQ:PL	0/1:59,62:121:99:1778,0,1552	17	0	4	0
chr3	130421335	130421335	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012A:p.G1671E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	0.724	D	2.525	M	-6.28	D	1.094	D	0.984	D	0.964	2.130	13.08	5.29	2.648	4.837	14.806	0.794	0.167130559847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.723514	0.33642	D	.	.	.	-6.28	0.99614	D	-5.87	0.88630	D	0.94	0.94668	1.094	0.99395	D	0.984	0.99521	D	9	0.985523	0.98809	D	0.167131	0.84557	D	0.794	0.93227	0.951	0.99428	0.644124591191	0.64118	0.9735298133118696	0.97341	0.262336419958	0.28795	0.683480918407	0.64769	T	0.416298	0.76929	T	0.521063	0.94919	D	0.510694	0.94844	D	0.997076034545898	0.90711	D	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.79050	P	.	.	5.173918	0.86733	29.0	0.99152888611040157	0.53875	0.94007	0.59833	D	AEFBI	0.669031	0.63661	D	0.704442869841399	0.79923	7.181635	0.635508156860711	0.77535	6.698256	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:34,0,21,0:55:99:0|1:130421335_G_C:469,571,1714,0,1143,1080,571,1714,1143,1714:130421335	0	0	4	6
chr3	130421335	130421335	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012C:p.G1671A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	.	.	0.511	D	2.525	M	-6.27	D	1.074	D	0.984	D	0.872	2.027	12.73	5.29	2.648	4.837	14.806	0.734	0.176336760823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0050	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	4.02e-05	5.624e-05	0	0	0.0002	0.0001	5.098e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	0.511236	0.31821	D	.	.	.	-6.27	0.99601	D	-4.41	0.77391	D	0.838	0.83371	1.074	0.98698	D	0.984	0.99524	D	9	0.9859581	0.98878	D	0.176337	0.85213	D	0.734	0.90721	0.961	0.99598	0.862445812811	0.86111	0.899606335700418	0.89932	0.247077292364	0.27244	0.620524644852	0.55803	T	0.407117	0.76282	T	0.482482	0.93793	D	0.455275	0.93714	D	0.994999051094055	0.86650	D	0.931207	0.74412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.63186	A	.	.	5.124875	0.85741	28.7	0.99596083398483337	0.73925	0.95070	0.63328	D	AEFBI	0.655440	0.62778	D	0.702238441851499	0.79779	7.150365	0.633624628633071	0.77398	6.671322	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:34,0,21,0:55:99:0|1:130421335_G_C:469,571,1714,0,1143,1080,571,1714,1143,1714:130421335	0	0	4	6
chr3	130421335	130421335	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:34,0,21,0:55:99:0|1:130421335_G_C:469,571,1714,0,1143,1080,571,1714,1143,1714:130421335	0	0	4	6
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.916	P	0.583	P	.	.	0.994	N	2.525	M	-3.16	D	-0.023	T	0.759	D	0.237	2.052	12.82	1.49	0.394	1.106	3.899	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	5430.93	51	chr3	130421337	.	T	C,*	5430.93	.	AC=14,1;AF=0.467,0.033;AN=30;BaseQRankSum=0.613;DP=1245;ExcessHet=17.4423;FS=223.593;InbreedingCoeff=-0.7500;MLEAC=17,1;MLEAF=0.567,0.033;MQ=60.00;MQRankSum=0.00;QD=5.88;ReadPosRankSum=0.198;SOR=11.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,21,0:55:99:0|1:130421335_G_C:469,0,1080,571,1143,1714:130421335	0	0	14	6
chr3	130421337	130421337	T	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5430.93	51	chr3	130421337	.	T	C,*	5430.93	.	AC=14,1;AF=0.467,0.033;AN=30;BaseQRankSum=0.613;DP=1245;ExcessHet=17.4423;FS=223.593;InbreedingCoeff=-0.7500;MLEAC=17,1;MLEAF=0.567,0.033;MQ=60.00;MQRankSum=0.00;QD=5.88;ReadPosRankSum=0.198;SOR=11.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,21,0:55:99:0|1:130421335_G_C:469,0,1080,571,1143,1714:130421335	0	0	14	6
chr3	130421338	130421338	-	CACC	exonic	COL6A5	.	frameshift insertion	COL6A5:NM_001278298:exon27:c.5015_5016insCACC:p.P1673Tfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	2256.56	51	chr3	130421338	.	T	C,TCACC	2256.56	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-1.635e+00;DP=1199;ExcessHet=7.7275;FS=148.515;InbreedingCoeff=-0.4684;MLEAC=12,1;MLEAF=0.353,0.029;MQ=60.00;MQRankSum=0.00;QD=3.34;ReadPosRankSum=0.071;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,21,0:55:99:0|1:130421335_G_C:469,0,1080,571,1143,1714:130421335	6	0	10	4
chr3	136422543	136422543	G	A	exonic	STAG1	.	nonsynonymous SNV	STAG1:NM_005862:exon19:c.C1904T:p.A635V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.225	B	0.168	B	0.000	D	1.000	D	2.015	M	1.21	T	-0.969	T	0.131	T	0.781	4.995	29.3	5.49	2.592	9.869	19.442	0.304	0.0146574774674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.014	0.66756	D	0.225	0.30426	B	0.168	0.35187	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.995	0.54099	M	1.21	0.37230	T	-2.24	0.50175	N	0.628	0.65159	-0.9693	0.37345	T	0.131	0.44108	T	10	0.4628582	0.59391	T	0.014657	0.34921	T	0.304	0.62510	0.634	0.77032	0.311241185304	0.30733	0.5067826476042132	0.50600	0.970847484119	0.73358	0.862622082233	0.91497	D	0.100957	0.40726	T	0.126636	0.67031	D	-0.0558725	0.66620	D	0.950470268726349	0.63341	D	0.965953	0.88585	D	0.60286915	0.72845	0.37111586	0.62348	0.60286915	0.72846	0.37111586	0.62347	-5.786	0.44452	T	.	.	0.272	0.55508	B	.;.;.	.;.;.	4.385858	0.67640	25.1	0.9991144502044691	0.98095	0.99083	0.90974	D	AEFBI	0.873358	0.79567	D	0.385558471933788	0.60639	4.255037	0.523958598013349	0.69607	5.384463	0.999999979250268	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.49	5.49	0.81022	10.003000	0.99689	11.845000	0.97913	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.442	0.94816	416	0.81733	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1355.98	34	chr3	136422543	.	G	A	1355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.170;DP=803;ExcessHet=0.0000;FS=0.697;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.226;SOR=0.574	GT:AD:DP:GQ:PL	0/1:59,57:116:99:1370,0,1376	20	0	1	0
chr3	141445053	141445053	C	T	exonic	ZBTB38	.	nonsynonymous SNV	ZBTB38:NM_001376164:exon3:c.C2665T:p.L889F	.	.	421	1095	6	0	0	6	0.00273224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	B	0.034	B	0.312	N	1.000	N	1.5	L	2.99	T	-1.010	T	0.018	T	0.308	0.161	4.868	1.58	1.332	-0.023	1.959	0.037	0.00958863474124	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1395462877	5.472e-06	5.472e-06	2.722e-06	8.25e-06	2.236e-05	2.35e-06	1.7e-06	8.4e-07	5.7e-07	0	2.236e-05	0	0	0	0	3.597e-06	4.967e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.641	0.04987	T	0.173	0.30143	T	0.257	0.31412	B	0.034	0.22546	B	0.312074	0.14416	N	0.667655	1	0.08975	N	2.25	0.63811	M	2.99	0.09262	T	0.18	0.05035	N	0.111	0.10911	-1.0098	0.26981	T	0.018	0.07565	T	9	0.049340725	0.04509	T	0.009589	0.25085	T	0.037	0.09474	0.37	0.38013	0.409069985131	0.40521	0.2582712482310762	0.25741	0.449858098868	0.44764	0.274273306131	0.06705	T	0.016363	0.13540	T	-0.285449	0.10098	T	-0.564939	0.15916	T	0.0668242584099924	0.08197	T	0.574643	0.20620	T	0.028731646	0.02255	0.032535486	0.02003	0.028731646	0.02255	0.032535486	0.02003	-4.948	0.36270	T	.	.	0.099	0.16626	B	.;.;.;.	.;.;.;.	0.921494	0.12966	9.471	0.9630937340664607	0.29377	0.17929	0.20047	N	AEFDBIJ	0.120527	0.23475	N	-0.625280639648341	0.18188	0.9422322	-0.657433068924809	0.18029	0.961336	0.999955914185527	0.48110	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.54	1.58	0.22557	-0.014000	0.12594	1.726000	0.28294	0.599000	0.40250	0.000000	0.06391	0.906000	0.28050	0.320000	0.24970	0.4803:0.2435:0.157:0.1192	1.959	0.03178	821	0.40814	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3057.98	35	chr3	141445053	.	C	T	3057.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.864;DP=961;ExcessHet=0.0000;FS=0.945;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=1.20;SOR=0.759	GT:AD:DP:GQ:PL	0/1:134,124:258:99:3072,0,3271	20	0	1	0
chr3	155853645	155853645	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353T:p.P118L	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2825036	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.69	H	-1.41	T	0.779	D	0.787	D	0.924	5.278	33	5.57	2.788	7.646	19.982	0.916	0.180330631785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-9.7	0.98602	D	0.933	0.93841	0.779	0.94149	D	0.787	0.92761	D	10	0.9592407	0.95314	D	0.180331	0.85482	D	0.916	0.97814	0.831	0.94042	0.971361032142	0.97104	0.9490389787202539	0.94886	2.26454559714	0.96209	0.848731040955	0.89423	D	0.814515	0.95400	D	0.434457	0.91756	D	0.386291	0.91653	D	0.999908089637756	0.99629	D	0.999721	0.99933	D	0.9729656	0.98529	0.93255115	0.97270	0.9729656	0.98529	0.93255115	0.97270	-13.696	0.92027	D	0.9927983798285628	0.99830	0.978	0.91951	P	.;.;.;.	.;.;.;.	5.608546	0.92513	32	0.9991421996857478	0.98309	0.83916	0.43007	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3698.37	37	chr3	155853645	.	G	A,C	3698.37	.	AC=2,9;AF=0.059,0.265;AN=34;BaseQRankSum=-3.879e+00;DP=2059;ExcessHet=7.7275;FS=226.061;InbreedingCoeff=-0.4474;MLEAC=2,10;MLEAF=0.059,0.294;MQ=60.00;MQRankSum=0.00;QD=2.91;ReadPosRankSum=1.31;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:121,7,13:141:18:.:.:18,125,4377,0,4271,5079	6	0	2	4
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.69	H	-1.41	T	0.779	D	0.787	D	0.955	4.886	28.0	5.57	2.788	7.646	19.982	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	3698.37	37	chr3	155853645	.	G	A,C	3698.37	.	AC=2,9;AF=0.059,0.265;AN=34;BaseQRankSum=-3.879e+00;DP=2059;ExcessHet=7.7275;FS=226.061;InbreedingCoeff=-0.4474;MLEAC=2,10;MLEAF=0.059,0.294;MQ=60.00;MQRankSum=0.00;QD=2.91;ReadPosRankSum=1.31;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:121,7,13:141:18:.:.:18,125,4377,0,4271,5079	6	0	2	4
chr3	158105910	158105910	C	G	exonic	SHOX2	.	nonsynonymous SNV	SHOX2:NM_001163678:exon1:c.G115C:p.E39Q	.	.	.	.	.	.	.	.	.	.	.	2770381	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.56	T	0.996	D	0.986	D	0.003	N	1.000	D	0.345	N	1.4	T	0.405	D	0.774	D	0.55	3.921	19.94	3.51	1.963	2.734	14.328	0.190	0.587066116969	.	.	4.073e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs772067593	1.517e-05	1.505e-05	4.115e-06	2.633e-05	0.0002	9.93e-06	8.48e-06	0.0002	0.0001	0	0	0	0	0	0	0	1.67e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.44694	D	0.218	0.37037	T	0.993	0.68779	D	0.968	0.76916	D	0.002738	0.36034	N	0.000000	1	0.81001	D	1.32	0.33002	L	1.4	0.33630	T	-0.51	0.15986	N	0.304	0.34336	0.405	0.89176	D	0.774	0.92321	D	10	0.27449846	0.45003	T	0.587066	0.96319	D	0.190	0.46781	0.146	0.04941	0.63898869166	0.63601	0.3559326842089999	0.35507	1.02930837497	0.75367	0.83667832613	0.87588	D	0.116592	0.43604	T	-0.246364	0.14547	T	-0.312226	0.43420	T	0.64603465795517	0.38293	D	0.784922	0.42712	T	0.1997356	0.41923	0.24640633	0.50149	0.1997356	0.41923	0.24640633	0.50148	-5.203	0.39074	T	.	.	0.150	0.40602	B	.;.;.	.;.;.	4.214477	0.63694	24.6	0.99138638595500195	0.53464	0.89536	0.50063	D	AEFDBHCIJ	0.627093	0.60967	D	0.149135960083515	0.48772	3.085343	0.17207572695832	0.48324	3.049777	0.999999999999789	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.51	3.51	0.39297	2.888000	0.48292	7.309000	0.58118	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	14.328	0.66091	554	0.71839	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1473.98	33	chr3	158105910	.	C	G	1473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=-7.560e-01;SOR=0.751	GT:AD:DP:GQ:PL	0/1:46,57:103:99:1488,0,1018	20	0	1	0
chr3	158665380	158665380	G	-	exonic	GFM1	.	frameshift deletion	GFM1:NM_001374358:exon9:c.965delG:p.R322Kfs*78	Combined oxidative phosphorylation deficiency 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	985200	not_provided|Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1|See_cases	MedGen:C3661900|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060,Orphanet:137681|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	1.368e-06	1.365e-06	1.378e-06	4.475e-05	2.3e-07	9e-08	7.42e-06	2.78e-06	0	4.475e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1161.94	34	chr3	158665379	.	AG	A	1161.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.454e+00;DP=798;ExcessHet=0.0000;FS=0.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-1.009e+00;SOR=0.565	GT:AD:DP:GQ:PL	0/1:71,38:109:99:1176,0,2504	20	0	1	0
chr3	167790410	167790410	G	A	exonic	SERPINI1	.	nonsynonymous SNV	SERPINI1:NM_001122752:exon3:c.G289A:p.V97I	Encephalopathy, familial, with neuroserpin inclusion bodies, Autosomal dominant	.	3	1479	38	2	0	42	0.014	.	.	293333	SERPINI1-related_disorder|Familial_encephalopathy_with_neuroserpin_inclusion_bodies|not_provided	.|MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218,Orphanet:85110|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.073	N	1.000	D	-0.81	N	-1.76	D	-0.882	T	0.118	T	0.176	-1.831	0.009	3.38	1.277	1.211	3.431	0.128	0.0328983958797	0.0045	0.00219649	0.0047	0.0004	0.0028	0	0.0009	0.0060	0.0088	0.0070	0.0046571	720	154602	rs61750375	0.0052	0.0052	0.0050	0.0054	0.0113	0.0051	0.0051	0.0091	0.0083	0.0009	0.0035	0.0067	2.521e-05	0.0010	0.0113	0.0054	0.0060	0.0082	0.0036	0.0036	0.0039	0.0033	0.0060	0.0033	0.0032	0.0051	0.0050	0.0007	0.0044	0.0037	0.0075	0	0.0008	0.0102	0.0056	0.0047	0.0060	1.0	0.00964	T	1.0	0.06033	T	0.0	0.02946	B	0.0	0.01387	B	0.072584	0.21399	N	0.510004	0.997854	0.22475	N	-0.96	0.01244	N	-1.76	0.83578	D	0.72	0.02442	N	0.118	0.10769	-0.8820	0.49601	T	0.118	0.41538	T	10	0.003496945	0.00062	T	0.032898	0.54598	D	0.128	0.35103	.	.	0.349806870941	0.34587	0.12769553884308935	0.12695	0.0739654645064	0.08289	0.265640407801	0.05581	T	0.066618	0.41999	T	-0.418963	0.01736	T	-0.370023	0.36887	T	0.000506542078013656	0.00004	T	0.513049	0.16451	T	0.0813746	0.18693	0.034470256	0.02519	0.099284485	0.23429	0.027892668	0.00977	-3.401	0.15070	T	0.07746155032237506	0.03632	0.101	0.17700	B	.;.;.;.	.;.;.;.	0.245951	0.06257	2.711	0.1125454455996657	0.00164	0.58987	0.30791	D	AEFDHCI	0.196709	0.32367	N	-0.97674131696484	0.09102	0.4294178	-0.769956646674864	0.15233	0.8001048	0.00303427363349803	0.09882	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.45	3.38	0.37806	1.259000	0.32559	1.149000	0.24466	-0.154000	0.11915	0.801000	0.29734	0.536000	0.25389	0.361000	0.25909	0.0975:0.1414:0.4717:0.2893	3.431	0.07000	805	0.43675	Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2102.98	35	chr3	167790410	.	G	A	2102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.844;DP=853;ExcessHet=0.0000;FS=0.600;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=-1.442e+00;SOR=0.627	GT:AD:DP:GQ:PL	0/1:76,86:162:99:2117,0,1765	20	0	1	0
chr3	174280537	174280537	G	A	exonic	NLGN1	.	nonsynonymous SNV	NLGN1:NM_001365929:exon6:c.G1706A:p.R569H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.954	D	0.000	D	1.000	D	2.435	M	-0.27	T	0.039	D	0.506	D	0.915	4.592	25.0	5.67	2.666	9.869	19.771	0.625	0.130973069767	.	.	6.633e-05	0	0	0.0003	0.0006	0	0	6.11e-05	5.17e-05	8	154602	rs769241191	3.833e-05	3.899e-05	4.495e-05	3.165e-05	0.0002	3.027e-05	2.721e-05	8.201e-05	5.786e-05	2.994e-05	0	3.834e-05	0.0002	0.0003	0	2.069e-05	1.658e-05	5.8e-05	5.267e-05	6.565e-05	2.576e-05	8.083e-05	1.473e-05	2.562e-05	1.833e-05	.	.	0	0	0	0	0	0.0007	0	1.473e-05	0	0	0.001	0.78490	D	0.008	0.67890	D	1.0	0.90584	D	0.954	0.69447	D	0.000009	0.62929	D	0.108897	1	0.81001	D	.	.	.	-0.27	0.68474	T	-3.8	0.71762	D	0.528	0.56145	0.039	0.83036	D	0.506	0.81396	D	10	0.5914162	0.66402	D	0.130973	0.81318	D	0.625	0.85511	0.432	0.48171	0.797248073371	0.79536	0.7454142524092356	0.74487	1.24129770132	0.81574	0.895406723022	0.95915	D	0.409218	0.76431	T	0.152459	0.69498	D	0.281544	0.87207	D	0.509085540549553	0.32963	D	0.957704	0.84069	D	.	.	.	.	.	.	.	.	-9.552	0.71182	D	.	.	0.975	0.90137	P	.;.;.	.;.;.	5.873416	0.93903	33	0.99935358591187828	0.99579	0.96350	0.68709	D	AEFHCI	0.923811	0.90086	D	0.946440990653104	0.93842	12.31535	0.92906608948499	0.96719	15.05471	0.99999999123321	0.74766	0.693126	0.56070	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.67	5.67	0.87673	10.003000	0.99689	11.936000	0.99985	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.771	0.96363	968	0.07033	.;.;Carboxylesterase, type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2162.98	34	chr3	174280537	.	G	A	2162.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=852;ExcessHet=0.0000;FS=2.819;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=0.617;SOR=0.503	GT:AD:DP:GQ:PL	0/1:73,87:160:99:2177,0,1560	20	0	1	0
chr3	179250780	179250780	A	C	exonic	KCNMB3	.	nonsynonymous SNV	KCNMB3:NM_171830:exon1:c.T211G:p.L71V	.	.	429	1039	54	0	0	54	0.0253283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.117	B	0.106	B	0.004	N	0.740	D	0.755	N	2.99	T	-0.966	T	0.004	T	0.214	1.602	11.31	0.942	-0.050	0.473	5.147	0.017	.	0.0019	0.0223642	0.0146	0.0008	0.0032	0.0395	0	0.0034	0.0077	0.0700	0.0129817	2007	154602	rs2276802	0.0072	0.0072	0.0051	0.0092	0.0684	0.0070	0.0070	0.0670	0.0664	0.0010	0.0031	0.0127	0.0326	9.36e-05	0.0218	0.0019	0.0093	0.0684	0.0053	0.0053	0.0040	0.0067	0.0642	0.0050	0.0049	0.0584	0.0561	0.0005	0	0.0055	0.0144	0.0357	0.0002	0.0102	0.0022	0.0038	0.0642	0.439	0.09291	T	0.738	0.08161	T	0.096	0.26519	B	0.038	0.31143	B	0.004138	0.34080	N	0.282759	0.617331	0.33807	D	1.295	0.32453	L	2.99	0.09262	T	-0.14	0.11366	N	0.059	0.07398	-0.9656	0.38092	T	0.004	0.01400	T	10	0.0046563745	0.00097	T	.	.	.	0.017	0.02790	.	.	.	.	0.4353581307616459	0.43452	0.226695250779	0.25215	0.263702362776	0.05340	T	0.001194	0.00692	T	-0.628976	0.00097	T	-0.625206	0.10781	T	0.00568234835327469	0.00062	T	0.693531	0.30321	T	0.03342323	0.03559	0.027471302	0.00903	0.03342323	0.03558	0.027471302	0.00903	-5.274	0.54223	T	.	.	0.122	0.27968	B	.;.;.;.;.	.;.;.;.;.	1.193052	0.15847	12.14	0.95592976965032206	0.27316	0.52621	0.29175	D	AEFBCI	0.095312	0.19259	N	-0.470201504834976	0.23062	1.235759	-0.326274033879087	0.27252	1.51095	0.999465146575166	0.39843	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.94	0.942	0.18648	0.476000	0.21890	0.513000	0.19097	0.658000	0.54486	0.997000	0.40164	0.896000	0.27899	0.989000	0.64315	0.6203:0.1436:0.2361:0.0	5.147	0.14320	808	0.43318	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	5235.68	34	chr3	179250780	.	A	C	5235.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.132e+00;DP=1125;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=-7.530e-01;SOR=0.661	GT:AD:DP:GQ:PL	0/1:103,85:188:99:1777,0,2803	18	0	3	0
chr3	187199976	187199976	G	T	exonic	RTP1	.	nonsynonymous SNV	RTP1:NM_153708:exon2:c.G698T:p.G233V,	.	.	436	1079	6	1	0	8	0.00369344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.18	B	0.031	B	0.000	D	1.000	D	0.895	L	-0.3	T	-0.797	T	0.195	T	0.538	2.874	15.57	5.74	2.723	3.170	15.418	0.133	.	.	0.00638978	0.0035	0	0	0	0	0	0.0012	0.0363	0.0034734	537	154602	rs370018432	0.0019	0.0020	0.0010	0.0028	0.0316	0.0019	0.0018	0.0306	0.0302	0	2.411e-05	0	2.538e-05	0	0.0016	3.007e-05	0.0020	0.0316	0.0009	0.0009	0.0004	0.0013	0.0268	0.0007	0.0007	0.0230	0.0216	2.405e-05	0	6.533e-05	0	0	0	0	0	0	0.0268	0.055	0.38407	T	0.06	0.45744	T	0.18	0.29046	B	0.031	0.21939	B	0.000198	0.48115	D	0.092841	0.999936	0.51612	D	1.35	0.33515	L	-0.3	0.67874	T	-1.1	0.28497	N	0.278	0.31478	-0.7975	0.55292	T	0.195	0.54869	T	10	0.0046980083	0.00099	T	.	.	.	0.133	0.36157	0.522	0.62518	0.314436011497	0.31061	0.6390223661705394	0.63836	0.407534205699	0.41611	0.523221313953	0.42080	T	0.110935	0.42602	T	-0.338232	0.05511	T	-0.234939	0.51292	T	0.0296429253467967	0.01935	T	0.620638	0.23835	T	0.1320763	0.30765	0.14924471	0.35246	0.1320763	0.30765	0.14924471	0.35246	-4.086	0.25083	T	.	.	0.111	0.21503	B	.	.	3.479220	0.48577	22.6	0.99117563973487954	0.52906	0.75778	0.37120	D	AEFDBI	0.402485	0.47655	N	0.0779929302952618	0.45437	2.800282	0.266265302954435	0.53580	3.526248	0.995349558969859	0.34076	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.74	5.74	0.90070	3.455000	0.52757	6.669000	0.56273	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	15.418	0.74711	904	0.23766	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2010.98	34	chr3	187199976	.	G	T	2010.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.300;DP=928;ExcessHet=0.0000;FS=2.722;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-1.652e+00;SOR=0.794	GT:AD:DP:GQ:PL	0/1:85,80:165:99:2025,0,2111	20	0	1	0
chr3	193454207	193454207	T	C	exonic	ATP13A4	.	nonsynonymous SNV	ATP13A4:NM_032279:exon17:c.A1921G:p.T641A,	.	.	.	.	.	.	.	.	.	.	.	708739	not_provided|ATP13A4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.003	B	0.081	N	1.000	D	0.445	N	-0.37	T	-1.079	T	0.087	T	0.157	0.582	7.140	2.44	0.184	-0.520	6.083	0.044	.	0.0041	0.00219649	0.0010	0.0117	0.0002	0	0	0	0	6.086e-05	0.0009573	148	154602	rs78695718	0.0003	0.0003	0.0004	0.0003	0.0130	0.0003	0.0003	0.0120	0.0116	0.0130	0.0003	0	0	0	0.0010	4.516e-06	0.0006	8.123e-05	0.0033	0.0033	0.0034	0.0032	0.0116	0.0031	0.0030	0.0108	0.0105	0.0116	0	0.0007	0	0	0	0	0	0.0033	0	0.695	0.04602	T	0.734	0.05292	T	0.0	0.02946	B	0.003	0.08700	B	0.081123	0.20883	N	0.467714	0.98232	0.24973	N	0.275	0.09989	N	-0.37	0.68892	T	-0.99	0.26200	N	0.133	0.12913	-1.0789	0.07563	T	0.087	0.33774	T	10	0.0051034093	0.00110	T	.	.	.	0.044	0.11924	.	.	0.322786055943	0.31880	0.17129873772219323	0.17049	0.112406469208	0.12689	0.283146083355	0.07935	T	0.305277	0.67754	T	-0.505589	0.00532	T	-0.488632	0.23535	T	0.0057492412558202	0.00063	T	0.139686	0.01117	T	0.08801399	0.20517	0.06347887	0.12582	0.08801399	0.20517	0.06347887	0.12581	-4.568	0.31767	T	.	.	0.053	0.00286	B	.;.	.;.	0.300740	0.06766	3.280	0.73087979775685907	0.10202	0.18971	0.20476	N	AEFI	0.122806	0.23811	N	-0.757587358547143	0.14427	0.7186126	-0.610424866891958	0.19224	1.030536	3.75384104283E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	6.17	2.44	0.28875	-0.814000	0.04593	0.082000	0.14403	0.665000	0.62972	0.000000	0.06391	0.014000	0.20376	0.970000	0.54328	0.0:0.1456:0.1378:0.7166	6.083	0.19175	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	804.98	35	chr3	193454207	.	T	C	804.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.809e+00;DP=854;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.75;ReadPosRankSum=1.06;SOR=0.619	GT:AD:DP:GQ:PL	0/1:54,38:92:99:819,0,1457	20	0	1	0
chr3	194459887	194459887	T	C	exonic	ATP13A3	.	nonsynonymous SNV	ATP13A3:NM_024524:exon4:c.A310G:p.N104D	.	.	430	1090	1	1	0	3	0.00137426	.	.	1546322	not_provided|ATP13A3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.61	T	0.047	B	0.158	B	0.244	N	1.000	N	0.69	N	1.98	T	-0.947	T	0.030	T	0.019	-1.208	0.068	-1.64	-0.182	0.894	7.301	0.047	0.00882089260961	0.0013	0.000399361	0.0020	0.0002	0.0008	0	0.0068	0.0027	0.0044	0.0005	0.0019211	297	154602	rs201046053	0.0018	0.0018	0.0018	0.0017	0.0061	0.0017	0.0017	0.0045	0.0039	0.0003	0.0006	0.0067	2.526e-05	0.0059	0.0061	0.0017	0.0015	0.0008	0.0016	0.0016	0.0013	0.0019	0.0018	0.0014	0.0014	0.0015	0.0015	0.0002	0	0.0007	0.0075	0	0.0067	0	0.0018	0.0019	0.0006	0.649	0.04864	T	0.627	0.07267	T	0.047	0.21998	B	0.158	0.34617	B	0.243855	0.15653	N	0.663319	0.999999	0.08975	N	1.04	0.26193	L	1.98	0.21865	T	-0.19	0.09965	N	0.114	0.12198	-0.9472	0.41448	T	0.030	0.12717	T	10	0.004317045	0.00087	T	0.008821	0.23269	T	0.047	0.12962	.	.	0.427830603989	0.42401	0.1523551650041218	0.15157	0.408458707236	0.41687	0.309772014618	0.11873	T	0.017298	0.14140	T	-0.685608	0.00044	T	-0.763462	0.02990	T	0.00426944132734161	0.00046	T	0.521748	0.17009	T	0.03535607	0.04144	0.048189342	0.07105	0.03535607	0.04144	0.048189342	0.07105	-3.631	0.18306	T	.	.	0.058	0.00754	B	.;.;.;.	.;.;.;.	0.617033	0.09856	6.617	0.33803126674027884	0.02033	0.31916	0.24457	N	AEFGBI	0.052004	0.09241	N	-1.35627723303869	0.03061	0.1361214	-1.33762126201401	0.03954	0.1855094	0.956074506005864	0.28226	0.706298	0.61202	0	0.724815	0.89359	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.38	-1.64	0.07874	0.914000	0.28246	0.644000	0.20348	-1.283000	0.01266	0.603000	0.27772	0.988000	0.31051	0.255000	0.23391	0.0:0.3705:0.3624:0.2671	7.301	0.25591	945	0.12563	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1405.98	34	chr3	194459887	.	T	C	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.950e-01;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=1.07;SOR=0.741	GT:AD:DP:GQ:PL	0/1:47,62:109:99:1420,0,1031	20	0	1	0
chr3	195779399	195779399	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12181G:p.H4061D,	.	.	479	819	90	122	12	346	0.169371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	B	0.0	B	.	.	1.000	N	0.55	N	1.55	T	-1.006	T	0.036	T	0.079	-1.535	0.016	.	-0.833	-0.021	4.708	0.013	0.00218180284521	.	0.000199681	0.0001	0	0	0	0	0.0002	0	0.0002	1.29e-05	2	154602	rs547257415	0.0006	0.0007	0.0004	0.0007	0.0030	0.0005	0.0005	0.0027	0.0026	4.2e-05	9.345e-05	0.0046	3.482e-05	0	0.0006	0.0004	0.0010	0.0030	3.88e-05	0.0004	2.522e-05	5.311e-05	8.501e-05	1.03e-05	4.86e-06	2.253e-05	1.224e-05	0	0	0	0	0	0	0	8.501e-05	0	0	1.0	0.00964	T	0.564	0.08991	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.49	0.31470	T	-0.08	0.10480	N	0.275	0.33578	-1.0061	0.28126	T	0.036	0.15422	T	7	0.036696404	0.01982	T	0.002182	0.04098	T	0.013	0.01715	.	.	0.0138822411134	0.00435	0.0021866061651874694	0.00202	.	.	0.568512201309	0.48467	T	.	.	.	-0.315178	0.07299	T	-0.690508	0.06360	T	0.0220143818898419	0.00910	T	0.528747	0.17479	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08802	B	.;.	.;.	1.068807	0.14510	11.08	0.47329398998956096	0.03861	0.00301	0.01603	N	AEFBI	0.072871	0.14556	N	-1.32045032849468	0.03442	0.1537419	-1.44176183161681	0.02845	0.1316572	1.19772475481673E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.326000	0.08008	-1.290000	0.05802	0.086000	0.17587	0.000000	0.06391	0.007000	0.19602	0.022000	0.11911	1.0E-4:0.0:0.6463:0.3536	4.708	0.12239	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.225	36608.93	193	chr3	195779399	.	GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC	G,CACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC	36608.93	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.51;DP=4301;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=57.38;MQRankSum=-7.921e+00;QD=16.79;ReadPosRankSum=0.561;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:6,163,0:169:99:.:.:7027,297,0,7045,506,7254	13	2	4	1
chr3	195779400	195779400	A	0	exonic	MUC4	.	.	.	.	.	692	592	97	123	18	361	0.224623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	159.86	193	chr3	195779400	.	A	T,*	159.86	.	AC=2,9;AF=0.071,0.321;AN=28;BaseQRankSum=-3.875e+00;DP=4316;ExcessHet=1.5306;FS=0.000;InbreedingCoeff=0.0793;MLEAC=3,12;MLEAF=0.107,0.429;MQ=58.96;MQRankSum=-1.218e+01;QD=0.07;ReadPosRankSum=3.26;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:6,0,163:169:99:.:.:7027,7045,7254,297,506,0	5	0	2	7
chr3	195779404	195779404	G	0	exonic	MUC4	.	.	.	.	.	476	823	94	122	7	345	0.170363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	2388.95	193	chr3	195779404	.	G	*,C	2388.95	.	AC=7,1;AF=0.184,0.026;AN=38;BaseQRankSum=-3.053e+00;DP=4001;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3277;MLEAC=8,1;MLEAF=0.211,0.026;MQ=56.64;MQRankSum=-1.569e+01;QD=1.40;ReadPosRankSum=6.49;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:6,163,0:169:99:.:.:7027,297,0,7045,506,7254	13	2	3	2
chr3	195779404	195779404	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12176G:p.T4059R,	.	.	476	823	94	122	7	345	0.170363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	B	0.007	B	.	.	1.000	N	0.55	N	1.17	T	-1.030	T	0.056	T	0.05	0.115	4.621	.	0.488	0.295	6.707	0.009	0.00182528942992	.	.	7.262e-05	0	0	0	0	0.0002	0	0	.	.	.	rs776979023	0.0009	0.0009	0.0007	0.0011	0.0040	0.0009	0.0009	0.0036	0.0035	0.0001	0.0001	0.0070	0	0	0.0009	0.0006	0.0016	0.0040	4.891e-05	0.0002	3.186e-05	6.678e-05	0.0001	1.298e-05	6.6e-06	3.471e-05	1.834e-05	0	0	0	0	0	0	0	0.0001	0	0	0.027	0.49613	D	0.119	0.36101	T	.	.	.	.	.	.	.	.	.	.	1	0.19363	N	.	.	.	1.12	0.38718	T	-0.72	0.20358	N	0.076	0.05037	-1.0299	0.20487	T	0.056	0.23639	T	7	0.042829275	0.03071	T	0.001825	0.03141	T	0.009	0.00846	0.264	0.20946	0.0401082797425	0.02173	0.010072051980256853	0.00969	.	.	0.559079825878	0.47139	T	.	.	.	-0.273447	0.11375	T	-0.630564	0.10373	T	0.0419996122301424	0.04055	T	0.784022	0.42156	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.30920	B	.;.	.;.	1.950288	0.24774	16.52	0.74889682782063816	0.10865	0.00529	0.02453	N	AEFBI	0.067654	0.13309	N	-1.1883514193745	0.05176	0.2353132	-1.30398640180941	0.04378	0.2063858	3.08878075065964E-5	0.03498	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	0.997000	0.29333	0.217000	0.16029	0.086000	0.17587	0.024000	0.20007	0.001000	0.17328	0.023000	0.12082	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2105	2388.95	193	chr3	195779404	.	G	*,C	2388.95	.	AC=7,1;AF=0.184,0.026;AN=38;BaseQRankSum=-3.053e+00;DP=4001;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3277;MLEAC=8,1;MLEAF=0.211,0.026;MQ=56.64;MQRankSum=-1.569e+01;QD=1.40;ReadPosRankSum=6.49;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:6,163,0:169:99:.:.:7027,297,0,7045,506,7254	13	2	3	2
chr3	195779410	195779410	A	0	exonic	MUC4	.	.	.	.	.	5	164	3	1	53	58	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2377.19	193	chr3	195779410	.	A	*,G	2377.19	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=3.77;DP=4183;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.71;MQRankSum=-1.575e+01;QD=1.14;ReadPosRankSum=7.26;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:6,163,0:169:99:.:.:7027,297,0,7045,506,7254	13	2	4	1
chr3	195779411	195779411	A	0	exonic	MUC4	.	.	.	.	.	505	777	88	120	32	360	0.174283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2371.19	193	chr3	195779411	.	A	*,C	2371.19	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=3.15;DP=4177;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.77;MQRankSum=-1.575e+01;QD=1.14;ReadPosRankSum=7.43;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:6,163,0:169:99:.:.:7027,297,0,7045,506,7254	13	2	4	1
chr3	195779418	195779418	A	0	exonic	MUC4	.	.	.	.	.	494	812	89	120	7	336	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.15	193	chr3	195779418	.	A	*,AGG	2367.15	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.52;DP=4182;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.77;MQRankSum=-1.581e+01;QD=1.14;ReadPosRankSum=7.93;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:6,163,0:169:99:.:.:7027,297,0,7045,506,7254	13	2	4	1
chr3	195779418	195779418	-	GG	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.12161_12162insCC:p.S4055Lfs*205,	.	.	494	812	89	120	7	336	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.195e-05	0	0	0	0	0.0002	0	0	.	.	.	rs760455429	0.0011	0.0014	0.0008	0.0014	0.0041	0.0010	0.0010	0.0037	0.0035	0.0010	0.0002	0.0067	0.0001	6.627e-05	0.0009	0.0007	0.0018	0.0041	0.0004	0.0009	0.0004	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0005	0	0	0	0	0	0	0.0004	0.0027	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.15	193	chr3	195779418	.	A	*,AGG	2367.15	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.52;DP=4182;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.77;MQRankSum=-1.581e+01;QD=1.14;ReadPosRankSum=7.93;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:6,163,0:169:99:.:.:7027,297,0,7045,506,7254	13	2	4	1
chr3	195779420	195779422	CAT	0	exonic	MUC4	.	.	.	.	.	7	164	1	0	54	55	0.00303951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.15	193	chr3	195779420	.	CAT	*,C	2367.15	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.02;DP=4192;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.85;MQRankSum=-1.604e+01;QD=1.13;ReadPosRankSum=7.58;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:6,163,0:169:99:.:.:7027,297,0,7045,506,7254	13	2	4	1
chr3	195779421	195779422	AT	-	exonic;splicing	MUC4;MUC4	NM_001322468:exon17:r.spl	frameshift deletion	MUC4:NM_018406:exon2:c.12158_12159del:p.N4053Sfs*24,	.	.	537	766	92	121	6	340	0.178992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0321	.	0.0002	0.0007	0	0	0	0.0002	0	0	.	.	.	rs749974981	0.0014	0.0014	0.0011	0.0017	0.0050	0.0013	0.0013	0.0045	0.0043	0.0013	0.0003	0.0108	0.0002	9.483e-05	0.0012	0.0009	0.0024	0.0050	0.0008	0.0015	0.0008	0.0007	0.0011	0.0005	0.0004	0.0006	0.0004	0.0011	0	0	0	0	0	0	0.0009	0.0049	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.15	193	chr3	195779420	.	CAT	*,C	2367.15	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.02;DP=4192;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.85;MQRankSum=-1.604e+01;QD=1.13;ReadPosRankSum=7.58;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:6,163,0:169:99:.:.:7027,297,0,7045,506,7254	13	2	4	1
chr3	195779431	195779431	G	0	exonic	MUC4	.	.	.	.	.	490	812	89	120	11	340	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.19	193	chr3	195779431	.	G	*,T	2367.19	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=-4.960e-01;DP=4177;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.82;MQRankSum=-1.595e+01;QD=1.14;ReadPosRankSum=6.18;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:6,163,0:169:99:.:.:7027,297,0,7045,506,7254	13	2	4	1
chr3	195779431	195779431	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12149A:p.P4050H	.	.	490	812	89	120	11	340	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	B	0.018	B	.	.	1.000	N	0.55	N	1.36	T	-1.020	T	0.047	T	0.061	0.033	4.183	.	0.488	-2.428	6.707	0.007	0.00258057017812	.	.	0.0021	0.0021	0	0	0	0.0008	0	0.0039	0.0001537	4	26028	rs1480550642	0.0014	0.0013	0.0011	0.0018	0.0074	0.0014	0.0013	0.0059	0.0057	0.0014	0.0005	0.0098	0	3.45e-05	0.0074	0.0008	0.0021	0.0064	0.0011	0.0013	0.0013	0.0009	0.0051	0.0009	0.0008	0.0029	0.0022	0.0012	0	0.0006	0.0039	0	0	0	0.0011	0	0.0051	0.012	0.54683	D	0.122	0.35970	T	.	.	.	.	.	.	.	.	.	.	1	0.18612	N	.	.	.	1.31	0.35405	T	0.9	0.01787	N	0.056	0.02759	-1.0196	0.23845	T	0.047	0.20235	T	7	0.0064422786	0.00146	T	0.002581	0.05206	T	0.007	0.00512	.	.	0.0138822411134	0.00435	0.004172141456176176	0.00391	.	.	0.549387454987	0.45772	T	.	.	.	-0.287244	0.09915	T	-0.650382	0.08927	T	0.00760233881679783	0.00088	T	0.528347	0.17454	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.33732	B	.;.	.;.	2.089554	0.26580	17.17	0.83398739857595916	0.14704	0.00137	0.00841	N	AEFI	0.045525	0.07454	N	-1.25857930923118	0.04188	0.1885301	-1.38017546312345	0.03463	0.1616229	3.49615975115454E-5	0.03775	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.111000	0.10778	0.000000	0.13247	0.086000	0.17587	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.19	193	chr3	195779431	.	G	*,T	2367.19	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=-4.960e-01;DP=4177;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.82;MQRankSum=-1.595e+01;QD=1.14;ReadPosRankSum=6.18;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:6,163,0:169:99:.:.:7027,297,0,7045,506,7254	13	2	4	1
chr3	195779444	195779444	T	0	exonic	MUC4	.	.	.	.	.	6	161	4	0	55	59	0.0122699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	7517.42	193	chr3	195779444	.	T	*,C	7517.42	.	AC=8,2;AF=0.200,0.050;AN=40;BaseQRankSum=2.08;DP=4116;ExcessHet=0.0120;FS=0.515;InbreedingCoeff=0.4558;MLEAC=8,2;MLEAF=0.200,0.050;MQ=56.17;MQRankSum=-1.262e+01;QD=3.54;ReadPosRankSum=3.57;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:6,163,0:169:99:.:.:7027,297,0,7045,506,7254	13	2	3	1
chr3	195779444	195779444	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A12136G:p.T4046A	.	.	504	767	103	128	20	379	0.189646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	B	0.039	B	0.380	N	1.000	N	0.55	N	1.64	T	-1.044	T	0.031	T	0.04	0.334	5.814	0.613	0.522	0.338	3.482	0.013	.	.	0.112021	0.0077	0.0014	0.0112	0.0580	0.0013	0.0092	0	0.0064	0.0053557	828	154602	rs62282465	0.0047	0.0064	0.0042	0.0052	0.0253	0.0046	0.0045	0.0229	0.0220	0.0027	0.0042	0.0154	0.0253	0.0049	0.0090	0.0034	0.0065	0.0109	0.0014	0.0045	0.0013	0.0016	0.0029	0.0011	0.0010	0.0022	0.0020	0.0029	0	0.0012	0	0.0011	0.0009	0	0.0006	0.0020	0	0.626	0.05214	T	0.108	0.37730	T	.	.	.	.	.	.	0.380396	0.13397	N	0.326178	1	0.08975	N	.	.	.	1.55	0.29866	T	-0.58	0.23156	N	0.034	0.01421	-1.0441	0.16089	T	0.031	0.13504	T	9	0.0028693974	0.00046	T	.	.	.	0.013	0.01715	.	.	0.0138822411134	0.00435	0.0021228600466568154	0.00196	.	.	0.553730368614	0.46383	T	.	.	.	-0.697436	0.00038	T	-0.745319	0.03671	T	0.00237689495200028	0.00025	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.04889	B	.;.	.;.	0.837442	0.12093	8.643	0.76492952725263341	0.11490	0.00494	0.02336	N	AEFI	0.061456	0.11751	N	-1.04182487498206	0.07748	0.3609991	-1.16911237340214	0.06431	0.3095628	1.23786745538616E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.613	0.613	0.16773	-0.356000	0.07711	-0.898000	0.07002	0.085000	0.17582	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	1.0E-4:0.0:0.427:0.5729	3.482	0.07171	601	0.67921	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.225	7517.42	193	chr3	195779444	.	T	*,C	7517.42	.	AC=8,2;AF=0.200,0.050;AN=40;BaseQRankSum=2.08;DP=4116;ExcessHet=0.0120;FS=0.515;InbreedingCoeff=0.4558;MLEAC=8,2;MLEAF=0.200,0.050;MQ=56.17;MQRankSum=-1.262e+01;QD=3.54;ReadPosRankSum=3.57;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:6,163,0:169:99:.:.:7027,297,0,7045,506,7254	13	2	3	1
chr3	195779447	195779447	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	7448.07	193	chr3	195779447	.	C	G,*	7448.07	.	AC=3,8;AF=0.075,0.200;AN=40;BaseQRankSum=1.25;DP=4112;ExcessHet=0.0419;FS=0.515;InbreedingCoeff=0.3622;MLEAC=3,8;MLEAF=0.075,0.200;MQ=55.88;MQRankSum=1.93;QD=3.49;ReadPosRankSum=2.57;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:6,0,163:169:99:.:.:7027,7045,7254,297,506,0	12	0	2	1
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8462	75722.94	215	chr3	195779882	.	G	C,*	75722.94	.	AC=18,8;AF=0.692,0.308;AN=26;BaseQRankSum=0.967;DP=4540;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5960;MLEAC=26,12;MLEAF=1.00,0.462;MQ=59.69;MQRankSum=-2.320e-01;QD=23.33;ReadPosRankSum=-5.600e-02;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,148:148:99:.:.:6331,6331,6331,480,480,0	0	7	0	8
chr3	195780494	195780494	G	0	exonic	MUC4	.	.	.	.	.	694	424	90	25	289	429	0.1417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	5548.65	401	chr3	195780494	.	G	*,A	5548.65	.	AC=7,1;AF=0.350,0.050;AN=20;BaseQRankSum=5.01;DP=8569;ExcessHet=1.8394;FS=1.262;InbreedingCoeff=0.0278;MLEAC=12,2;MLEAF=0.600,0.100;MQ=54.69;MQRankSum=-3.824e+00;QD=1.83;ReadPosRankSum=9.34;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:204,0,156:360:99:0|1:195780494_G_A:5556,6170,14491,0,8321,7848:195780494	3	1	5	11
chr3	195780501	195780501	C	0	exonic	MUC4	.	.	.	.	.	741	294	218	40	229	527	0.336343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4667	51505.37	393	chr3	195780501	.	C	*,G	51505.37	.	AC=7,10;AF=0.233,0.333;AN=30;BaseQRankSum=-5.880e-01;DP=8384;ExcessHet=0.9330;FS=0.000;InbreedingCoeff=0.1350;MLEAC=9,13;MLEAF=0.300,0.433;MQ=54.00;MQRankSum=-3.340e-01;QD=9.32;ReadPosRankSum=-1.345e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:191,0,155:346:99:.:.:5934,6502,11535,0,5033,4566	3	1	2	6
chr3	195780526	195780529	TCCG	0	exonic	MUC4	.	.	.	.	.	603	642	21	1	255	278	0.0175976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	5700.23	349	chr3	195780526	.	TCCG	*,T	5700.23	.	AC=11,1;AF=0.423,0.038;AN=26;BaseQRankSum=2.59;DP=7969;ExcessHet=0.0661;FS=2.096;InbreedingCoeff=0.3651;MLEAC=16,1;MLEAF=0.615,0.038;MQ=52.99;MQRankSum=5.89;QD=1.65;ReadPosRankSum=2.36;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:172,0,149:321:99:0|1:195780494_G_A:5709,6227,13449,0,7222,6774:195780494	5	4	3	8
chr3	195780530	195780623	TGACAGGAAGACGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGCGTC	0	exonic	MUC4	.	.	.	.	.	570	703	20	0	229	249	0.0140252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	5271.15	349	chr3	195780530	.	TGACAGGAAGACGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGCGTC	T,*	5271.15	.	AC=1,3;AF=0.056,0.167;AN=18;BaseQRankSum=3.31;DP=7644;ExcessHet=1.8123;FS=1.101;InbreedingCoeff=0.1822;MLEAC=2,6;MLEAF=0.111,0.333;MQ=52.75;MQRankSum=-3.954e+00;QD=2.95;ReadPosRankSum=-3.480e+00;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:301,148,0:449:99:0|1:195780494_G_A:5278,0,12025,6184,12470,18654:195780494	5	0	1	12
chr3	195780562	195780562	G	0	exonic	MUC4	.	.	.	.	.	634	632	242	5	9	261	0.166227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	950.16	349	chr3	195780562	.	G	*,A	950.16	.	AC=4,1;AF=0.250,0.063;AN=16;BaseQRankSum=-1.598e+00;DP=7247;ExcessHet=2.8389;FS=0.524;InbreedingCoeff=0.0278;MLEAC=8,2;MLEAF=0.500,0.125;MQ=52.35;MQRankSum=5.43;QD=0.47;ReadPosRankSum=4.24;SOR=0.633	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:301,148,0:449:99:0|1:195780494_G_A:5278,0,12025,6184,12470,18654:195780494	3	0	4	13
chr3	195780575	195780575	C	0	exonic	MUC4	.	.	.	.	.	839	407	22	0	254	276	0.0263158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	12264.56	349	chr3	195780575	.	C	*,T	12264.56	.	AC=6,1;AF=0.300,0.050;AN=20;BaseQRankSum=0.071;DP=7349;ExcessHet=6.0611;FS=0.558;InbreedingCoeff=-0.0832;MLEAC=10,2;MLEAF=0.500,0.100;MQ=51.21;MQRankSum=8.32;QD=3.68;ReadPosRankSum=3.24;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:301,148,0:449:99:0|1:195780494_G_A:5278,0,12025,6184,12470,18654:195780494	3	0	6	11
chr3	195780583	195780583	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10997T:p.P3666L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	B	0.002	B	.	.	1.000	N	0	N	1.57	T	-0.988	T	0.032	T	0.104	0.265	5.434	0.743	0.088	1.518	6.905	0.022	0.000701446879571	.	.	0.0024	0	0	0	0	0	0	0.0049	0.0001617	25	154602	rs767764512	0.0001	8.518e-05	7.656e-05	0.0001	0.0013	8.864e-05	8.166e-05	0.0010	0.0009	0.0001	0	0	8.872e-05	0	0.0005	3.457e-05	6.574e-05	0.0013	9.867e-05	0.0002	5.089e-05	0.0001	0.0020	3.299e-05	1.948e-05	0.0004	0.0002	0.0001	0	0	0	0	0	0	5.043e-05	0	0.0020	0.016	0.51853	D	0.187	0.28860	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.57	0.30133	T	-1.03	0.27052	N	0.107	0.09207	-0.9884	0.33002	T	0.032	0.13898	T	8	0.0077109635	0.00175	T	7.01E-4	0.00435	T	0.022	0.04323	.	.	0.0920862733494	0.08535	0.004806063485625643	0.00452	.	.	0.490108907223	0.37453	T	.	.	.	-0.321772	0.06753	T	-0.699979	0.05827	T	0.00728160681488316	0.00083	T	0.753225	0.37546	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.21390	B	.;.	.;.	2.001965	0.25439	16.76	0.73253195466699128	0.10261	0.00307	0.01628	N	AEFBI	0.057882	0.10819	N	-1.2268818149776	0.04613	0.2085847	-1.29709374232406	0.04470	0.2109179	1.33794269631254E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.743	0.743	0.17496	-0.528000	0.06280	-0.833000	0.07248	0.187000	0.17834	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0E-4:0.0:0.9999:0.0	6.905	0.23486	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	1811.04	349	chr3	195780583	.	G	A,*	1811.04	.	AC=1,2;AF=0.063,0.125;AN=16;BaseQRankSum=4.18;DP=7369;ExcessHet=0.9691;FS=1.814;InbreedingCoeff=0.2533;MLEAC=2,4;MLEAF=0.125,0.250;MQ=50.12;MQRankSum=5.62;QD=1.39;ReadPosRankSum=1.68;SOR=0.537	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:301,0,148:449:99:0|1:195780494_G_A:5278,6184,18654,0,12470,12025:195780494	5	0	1	13
chr3	195780583	195780583	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	1811.04	349	chr3	195780583	.	G	A,*	1811.04	.	AC=1,2;AF=0.063,0.125;AN=16;BaseQRankSum=4.18;DP=7369;ExcessHet=0.9691;FS=1.814;InbreedingCoeff=0.2533;MLEAC=2,4;MLEAF=0.125,0.250;MQ=50.12;MQRankSum=5.62;QD=1.39;ReadPosRankSum=1.68;SOR=0.537	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:301,0,148:449:99:0|1:195780494_G_A:5278,6184,18654,0,12470,12025:195780494	5	0	1	13
chr3	195780604	195780604	G	0	exonic	MUC4	.	.	.	.	.	455	714	336	0	17	353	0.190476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	49349.11	404	chr3	195780604	.	G	C,*	49349.11	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=1.02;DP=8148;ExcessHet=12.7758;FS=0.000;InbreedingCoeff=-0.5385;MLEAC=13,1;MLEAF=0.361,0.028;MQ=49.37;MQRankSum=2.50;QD=8.15;ReadPosRankSum=-1.380e-01;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:301,0,148:449:99:0|1:195780494_G_A:5278,6184,18654,0,12470,12025:195780494	5	0	12	3
chr3	195780620	195780620	C	0	exonic	MUC4	.	.	.	.	.	808	314	377	7	16	407	0.38371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	185617.17	454	chr3	195780620	.	C	T,*	185617.17	.	AC=14,1;AF=0.389,0.028;AN=36;BaseQRankSum=7.26;DP=8709;ExcessHet=23.1855;FS=1.891;InbreedingCoeff=-0.6027;MLEAC=16,1;MLEAF=0.444,0.028;MQ=48.79;MQRankSum=6.09;QD=25.34;ReadPosRankSum=-4.997e+00;SOR=0.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:301,0,148:449:99:0|1:195780494_G_A:5278,6184,18654,0,12470,12025:195780494	3	0	14	3
chr3	195780623	195780623	C	0	exonic	MUC4	.	.	.	.	.	801	322	379	4	16	403	0.375364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	180902.17	451	chr3	195780623	.	C	T,*	180902.17	.	AC=14,1;AF=0.389,0.028;AN=36;BaseQRankSum=7.87;DP=8655;ExcessHet=23.1855;FS=2.624;InbreedingCoeff=-0.6027;MLEAC=16,1;MLEAF=0.444,0.028;MQ=48.54;MQRankSum=5.61;QD=25.01;ReadPosRankSum=-4.462e+00;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:301,0,148:449:99:0|1:195780494_G_A:5278,6184,18654,0,12470,12025:195780494	3	0	14	3
chr3	195781220	195781220	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	54979.33	431	chr3	195781220	.	T	C,*	54979.33	.	AC=9,1;AF=0.250,0.028;AN=36;BaseQRankSum=-1.386e+00;DP=9310;ExcessHet=0.2410;FS=0.000;InbreedingCoeff=0.1444;MLEAC=10,1;MLEAF=0.278,0.028;MQ=59.26;MQRankSum=4.32;QD=12.97;ReadPosRankSum=0.556;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:41,235,0:276:99:.:.:6606,543,0,6914,676,8159	10	2	5	3
chr3	195781545	195781545	C	0	exonic	MUC4	.	.	.	.	.	447	984	72	8	11	99	0.0428016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	214.85	461	chr3	195781545	.	C	*,A	214.85	.	AC=5,2;AF=0.132,0.053;AN=38;BaseQRankSum=0.229;DP=9525;ExcessHet=2.7391;FS=7.747;InbreedingCoeff=-0.2163;MLEAC=5,1;MLEAF=0.132,0.026;MQ=58.15;MQRankSum=-1.237e+01;QD=0.06;ReadPosRankSum=-2.465e+00;SOR=1.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:258,0,20:278:2:0|1:195781531_G_T:2,779,11500,0,10722,10664:195781531	12	0	5	2
chr3	195781547	195781547	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	199.21	461	chr3	195781547	.	C	G,*	199.21	.	AC=2,5;AF=0.056,0.139;AN=36;BaseQRankSum=-4.040e-01;DP=9369;ExcessHet=2.7391;FS=9.360;InbreedingCoeff=-0.2500;MLEAC=2,6;MLEAF=0.056,0.167;MQ=57.24;MQRankSum=-1.314e+01;QD=0.06;ReadPosRankSum=-4.481e+00;SOR=1.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:241,20,0:261:54:.:.:54,0,6106,764,6164,6928	11	0	2	3
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.725	58454.87	402	chr3	195781628	.	C	T,*	58454.87	.	AC=10,20;AF=0.250,0.500;AN=40;BaseQRankSum=2.39;DP=7718;ExcessHet=6.5132;FS=0.581;InbreedingCoeff=-0.3333;MLEAC=10,21;MLEAF=0.250,0.525;MQ=55.94;MQRankSum=-1.348e+00;QD=8.67;ReadPosRankSum=0.131;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,240,0:240:99:.:.:7367,719,0,7367,719,7367	0	3	3	1
chr3	195782507	195782507	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	3617.11	473	chr3	195782507	.	G	C,*	3617.11	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=0.608;DP=8469;ExcessHet=0.1022;FS=1.731;InbreedingCoeff=0.2832;MLEAC=1,8;MLEAF=0.025,0.200;MQ=55.87;MQRankSum=-1.046e+01;QD=1.40;ReadPosRankSum=1.53;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,181:183:99:.:.:7306,7420,8014,237,582,0	13	0	1	1
chr3	195782517	195782517	G	0	exonic	MUC4	.	.	.	.	.	464	935	5	4	114	127	0.00690388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2353	782.1	473	chr3	195782517	.	G	A,*	782.1	.	AC=1,7;AF=0.029,0.206;AN=34;BaseQRankSum=2.28;DP=8484;ExcessHet=0.0354;FS=1.107;InbreedingCoeff=0.2407;MLEAC=1,8;MLEAF=0.029,0.235;MQ=52.14;MQRankSum=-7.400e+00;QD=0.36;ReadPosRankSum=3.01;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,181:183:99:.:.:7306,7420,8014,237,582,0	11	0	1	4
chr3	195782949	195782949	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6111	89047.24	581	chr3	195782949	.	A	G,*	89047.24	.	AC=11,1;AF=0.611,0.056;AN=18;BaseQRankSum=0.195;DP=11733;ExcessHet=5.3821;FS=0.000;InbreedingCoeff=0.0111;MLEAC=20,2;MLEAF=1.00,0.111;MQ=56.70;MQRankSum=-8.626e+00;QD=21.07;ReadPosRankSum=0.379;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,267,0:269:99:.:.:7740,756,0,7746,799,7790	0	2	6	12
chr3	195783068	195783068	G	0	exonic	MUC4	.	.	.	.	.	442	900	103	29	48	209	0.082101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3214	13824.02	469	chr3	195783068	.	G	T,*	13824.02	.	AC=6,3;AF=0.214,0.107;AN=28;BaseQRankSum=1.62;DP=9197;ExcessHet=5.7770;FS=6.457;InbreedingCoeff=-0.2980;MLEAC=8,4;MLEAF=0.286,0.143;MQ=56.56;MQRankSum=-1.160e+01;QD=4.34;ReadPosRankSum=-2.209e+00;SOR=1.099	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,78,0:85:44:0|1:195783068_G_T:3179,0,44,3200,278,3479:195783068	5	0	6	7
chr3	195783070	195783070	A	0	exonic	MUC4	.	.	.	.	.	2	173	30	8	13	59	0.117347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	14051.12	468	chr3	195783070	.	A	C,*	14051.12	.	AC=6,4;AF=0.200,0.133;AN=30;BaseQRankSum=1.87;DP=9244;ExcessHet=6.9875;FS=3.367;InbreedingCoeff=-0.3690;MLEAC=8,5;MLEAF=0.267,0.167;MQ=56.95;MQRankSum=-9.607e+00;QD=3.58;ReadPosRankSum=-2.103e+00;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,78,0:85:44:0|1:195783068_G_T:3179,0,44,3200,278,3479:195783068	5	0	6	6
chr3	195783086	195783086	A	0	exonic	MUC4	.	.	.	.	.	490	879	93	33	27	186	0.0829421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	10418.23	479	chr3	195783086	.	A	*,G	10418.23	.	AC=5,7;AF=0.179,0.250;AN=28;BaseQRankSum=0.783;DP=8967;ExcessHet=1.0583;FS=3.282;InbreedingCoeff=-0.1323;MLEAC=7,9;MLEAF=0.250,0.321;MQ=57.34;MQRankSum=-1.078e+01;QD=2.74;ReadPosRankSum=-4.326e+00;SOR=0.864	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:4,0,60:64:18:1|1:195783068_G_T:2514,2526,2689,18,181,0:195783068	4	0	4	7
chr3	195783103	195783103	A	0	exonic	MUC4	.	.	.	.	.	690	605	177	26	24	253	0.159138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4587.88	506	chr3	195783103	.	A	G,*	4587.88	.	AC=6,4;AF=0.300,0.200;AN=20;BaseQRankSum=4.06;DP=8924;ExcessHet=0.4906;FS=4.240;InbreedingCoeff=-0.0371;MLEAC=10,6;MLEAF=0.500,0.300;MQ=58.00;MQRankSum=-1.052e+01;QD=1.60;ReadPosRankSum=-4.436e+00;SOR=0.851	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,39,0:41:38:1|1:195783068_G_T:1670,38,0,1676,117,1755:195783068	2	1	3	11
chr3	195783105	195783105	C	0	exonic	MUC4	.	.	.	.	.	522	914	37	26	23	112	0.0464267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	2897.01	506	chr3	195783105	.	C	T,*	2897.01	.	AC=6,4;AF=0.188,0.125;AN=32;BaseQRankSum=1.38;DP=7813;ExcessHet=0.3364;FS=4.620;InbreedingCoeff=0.1275;MLEAC=7,5;MLEAF=0.219,0.156;MQ=57.99;MQRankSum=-1.166e+01;QD=1.02;ReadPosRankSum=-5.051e+00;SOR=0.973	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,31,0:31:93:1|1:195783068_G_T:1395,93,0,1395,93,1395:195783068	8	1	3	5
chr3	195783106	195783106	A	0	exonic	MUC4	.	.	.	.	.	522	916	35	26	23	110	0.0453361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	2727.94	506	chr3	195783106	.	A	*,G	2727.94	.	AC=4,6;AF=0.125,0.188;AN=32;BaseQRankSum=5.87;DP=7812;ExcessHet=0.3364;FS=3.688;InbreedingCoeff=0.1275;MLEAC=5,7;MLEAF=0.156,0.219;MQ=57.97;MQRankSum=-1.105e+01;QD=0.96;ReadPosRankSum=-4.100e+00;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:2,0,31:33:9:1|1:195783068_G_T:1305,1311,1395,9,93,0:195783068	8	0	3	5
chr3	195783108	195783108	T	0	exonic	MUC4	.	.	.	.	.	516	925	32	26	23	107	0.0434333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	1867.95	571	chr3	195783108	.	T	C,*	1867.95	.	AC=4,1;AF=0.154,0.038;AN=26;BaseQRankSum=-2.420e-01;DP=7503;ExcessHet=0.0568;FS=11.270;InbreedingCoeff=0.1651;MLEAC=6,1;MLEAF=0.231,0.038;MQ=57.87;MQRankSum=-1.176e+01;QD=2.39;ReadPosRankSum=-3.756e+00;SOR=1.387	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,23,0:25:15:0|1:195783068_G_T:960,0,15,966,84,1050:195783068	9	0	3	8
chr3	195783115	195783115	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8465T:p.A2822V,	.	.	518	942	16	23	23	85	0.0318602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.784	P	0.235	B	.	.	1.000	N	0.345	N	1.54	T	-1.043	T	0.034	T	0.078	1.475	10.88	.	-0.000	0.527	5.818	0.055	0.00808758064807	.	.	9.747e-05	0	0	0	0	0.0002	0	0	3.88e-05	6	154602	rs779130828	0.0006	0.0075	0.0006	0.0007	0.0014	0.0006	0.0006	0.0010	0.0009	0.0001	0.0003	0.0008	0.0014	0.0011	0.0007	0.0006	0.0009	0.0001	0.0005	0.0090	0.0006	0.0005	0.0009	0.0004	0.0004	0.0007	0.0006	0.0002	0	0.0005	0.0003	0	0.0002	0	0.0009	0.0006	0	0.024	0.47745	D	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.54	0.30133	T	-0.32	0.12283	N	0.091	0.06990	-1.0429	0.16443	T	0.034	0.14509	T	7	0.057775825	0.06688	T	0.008088	0.21444	T	0.055	0.15663	0.112	0.02175	0.0138822411134	0.00435	4.332367442156766E-5	0.00003	.	.	0.49801659584	0.38551	T	.	.	.	-0.322191	0.06720	T	-0.700582	0.05794	T	0.0232126214171904	0.01049	T	0.561544	0.19673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28550	B	.;.	.;.	1.043626	0.14243	10.82	0.97275147961025843	0.33153	0.04537	0.10171	N	AEFBI	0.111671	0.22101	N	-0.87767777179361	0.11376	0.5485977	-1.04387443529792	0.08835	0.4363716	0.00134275207830979	0.08462	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	0.054000	0.14087	0.088000	0.14478	0.193000	0.17869	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.001:0.0:0.999:0.0	5.818	0.17765	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07692	865.72	571	chr3	195783115	.	G	A,*	865.72	.	AC=2,1;AF=0.077,0.038;AN=26;BaseQRankSum=2.60;DP=7423;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3186;MLEAC=3,1;MLEAF=0.115,0.038;MQ=56.27;MQRankSum=-1.761e+00;QD=3.92;ReadPosRankSum=-5.110e-01;SOR=1.039	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,14,0:16:42:0|1:195783068_G_T:582,0,42,588,84,672:195783068	11	0	1	8
chr3	195783115	195783115	G	0	exonic	MUC4	.	.	.	.	.	518	942	16	23	23	85	0.0318602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	865.72	571	chr3	195783115	.	G	A,*	865.72	.	AC=2,1;AF=0.077,0.038;AN=26;BaseQRankSum=2.60;DP=7423;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3186;MLEAC=3,1;MLEAF=0.115,0.038;MQ=56.27;MQRankSum=-1.761e+00;QD=3.92;ReadPosRankSum=-5.110e-01;SOR=1.039	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,14,0:16:42:0|1:195783068_G_T:582,0,42,588,84,672:195783068	11	0	1	8
chr3	195783119	195783119	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G8461A:p.D2821N,	.	.	523	945	13	20	21	74	0.0272774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	B	0.0	B	.	.	0.967	N	0.345	N	1.63	T	-0.998	T	0.034	T	0.028	0.684	7.659	.	-0.000	-0.466	4.544	0.017	0.00361977304785	.	.	0.0001	0	0	0	0.0006	0.0002	0	0	2.59e-05	4	154602	rs868560707	0.0003	0.0058	0.0003	0.0002	0.0007	0.0002	0.0002	0.0004	0.0003	0.0004	0.0003	0.0003	0.0006	0.0005	0.0007	0.0002	0.0006	8.471e-05	0.0004	0.0066	0.0005	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	0.0002	0	0.0005	0.0007	0	0.0001	0	0.0005	0.0007	0	0.046	0.40573	D	0.092	0.40110	T	.	.	.	.	.	.	.	.	.	.	1	0.25888	N	.	.	.	1.63	0.28002	T	-0.65	0.18877	N	0.074	0.04790	-0.9984	0.30367	T	0.034	0.14639	T	7	0.04676366	0.03908	T	0.00362	0.08309	T	0.017	0.02790	0.218	0.13932	0.0138822411134	0.00435	4.811599441479893E-5	0.00003	.	.	0.538040757179	0.44169	T	.	.	.	-0.406046	0.02112	T	-0.821033	0.01432	T	0.0261067225224835	0.01420	T	0.627737	0.24333	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.16886	B	.;.	.;.	1.127292	0.15138	11.62	0.96387718866879646	0.29640	0.00081	0.00551	N	AEFBI	0.043696	0.06939	N	-1.31332560996001	0.03522	0.1574579	-1.42243953303557	0.03029	0.1405056	1.19599416723631E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-2.089000	0.01445	-2.543000	0.03628	0.174000	0.17776	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5833:0.4166:0.0	4.544	0.11475	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1562	635.54	526	chr3	195783119	.	C	T,*	635.54	.	AC=2,4;AF=0.063,0.125;AN=32;BaseQRankSum=2.58;DP=7561;ExcessHet=0.1688;FS=2.903;InbreedingCoeff=0.1971;MLEAC=2,5;MLEAF=0.063,0.156;MQ=57.40;MQRankSum=-2.830e+00;QD=0.31;ReadPosRankSum=0.652;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,13,0:16:81:0|1:195783068_G_T:537,0,81,546,120,666:195783068	11	0	1	5
chr3	195783119	195783119	C	0	exonic	MUC4	.	.	.	.	.	523	945	13	20	21	74	0.0272774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	635.54	526	chr3	195783119	.	C	T,*	635.54	.	AC=2,4;AF=0.063,0.125;AN=32;BaseQRankSum=2.58;DP=7561;ExcessHet=0.1688;FS=2.903;InbreedingCoeff=0.1971;MLEAC=2,5;MLEAF=0.063,0.156;MQ=57.40;MQRankSum=-2.830e+00;QD=0.31;ReadPosRankSum=0.652;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,13,0:16:81:0|1:195783068_G_T:537,0,81,546,120,666:195783068	11	0	1	5
chr3	195783878	195783878	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	158236.0	363	chr3	195783878	.	C	A,CGGAAGTGTCGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA,*,CGGAAGTGTTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA	158236.0	.	AC=12,7,1,1;AF=0.333,0.194,0.028,0.028;AN=36;BaseQRankSum=1.84;DP=9624;ExcessHet=8.7202;FS=1.793;InbreedingCoeff=-0.4053;MLEAC=13,7,1,1;MLEAF=0.361,0.194,0.028,0.028;MQ=55.02;MQRankSum=-2.778e+00;QD=22.89;ReadPosRankSum=-4.840e-01;SOR=0.836	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:7,359,0,0,0:366:99:.:.:15091,895,0,15112,1079,15296,15112,1079,15296,15296,15112,1079,15296,15296,15296	1	1	9	3
chr3	195783902	195783902	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	124896.55	459	chr3	195783902	.	A	G,*	124896.55	.	AC=15,1;AF=0.417,0.028;AN=36;BaseQRankSum=-2.830e-01;DP=9618;ExcessHet=25.4433;FS=0.524;InbreedingCoeff=-0.7101;MLEAC=17,1;MLEAF=0.472,0.028;MQ=56.37;MQRankSum=0.323;QD=15.45;ReadPosRankSum=-3.430e-01;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,387,0:430:52:.:.:14440,0,52,14569,1183,15752	2	0	15	3
chr3	195784343	195784343	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7237G:p.H2413D	.	.	428	1009	55	7	23	92	0.0330618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	B	0.0	B	.	.	1.000	N	0.55	N	1.58	T	-1.007	T	0.036	T	0.101	-0.403	2.114	.	-0.914	-1.963	4.69	0.025	0.00480540183533	.	.	0.0002	0	0	0	0	0.0005	0	0	3.84e-05	1	26028	rs202190300	0.0030	0.0072	0.0028	0.0032	0.0156	0.0029	0.0028	0.0125	0.0114	0.0034	0.0055	0.0056	0	0.0057	0.0156	0.0026	0.0040	0.0037	0.0002	0.0031	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0	0.0003	0.0010	0	0	0	0.0003	0.0006	0	1.0	0.02017	T	0.195	0.28300	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.58	0.29342	T	-0.17	0.09627	N	0.166	0.17553	-1.0072	0.27789	T	0.036	0.15334	T	7	0.046534777	0.03856	T	0.004805	0.12004	T	0.025	0.05312	.	.	0.0138822411134	0.00435	6.529260570088327E-4	0.00060	.	.	0.507045388222	0.39809	T	.	.	.	-0.348596	0.04816	T	-0.738511	0.03953	T	0.0315731556165468	0.02238	T	0.566543	0.20051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07697	B	.;.	.;.	-0.449607	0.02034	0.183	0.84245075148163384	0.15179	0.00328	0.01715	N	AEFBCI	0.042811	0.06688	N	-1.40519715015048	0.02593	0.1147022	-1.53226286008654	0.02100	0.09610031	1.84639979935336E-5	0.02871	0.447487	0.09398	2	0.546412	0.12157	0	0.49644	0.08281	0	0.613276	0.41899	0	.	.	.	.	.	-3.341000	0.00560	-1.066000	0.06436	-2.392000	0.00297	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	1.0E-4:0.0:0.6456:0.3543	4.69	0.12158	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	10852.67	901	chr3	195784343	.	G	C,GACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTC	10852.67	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-7.630e-01;DP=18490;ExcessHet=0.3300;FS=2.986;InbreedingCoeff=-0.0825;MLEAC=2,1;MLEAF=0.048,0.024;MQ=57.79;MQRankSum=-1.200e+01;QD=8.33;ReadPosRankSum=-9.950e-01;SOR=1.265	GT:AD:DP:GQ:PL	0/2:438,12,13:463:99:5510,1057,31505,0,16870,15650	18	0	2	0
chr3	195784556	195784603	GGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAA	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.6977_7024del:p.L2326_S2341del	.	.	508	1002	8	0	4	12	0.00397614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1125	.	0.0079	0.0319	0.0070	0	0.0036	0.0102	0.0043	0.0028	0.0006147	16	26028	.	0.0020	0.0030	0.0019	0.0020	0.0068	0.0019	0.0019	0.0049	0.0042	0.0039	0.0021	0.0043	0.0001	0.0029	0.0068	0.0018	0.0033	0.0018	0.0060	0.0073	0.0061	0.0059	0.0094	0.0057	0.0055	0.0086	0.0082	0.0094	0.0033	0.0053	0.0058	0.0012	0.0029	0	0.0057	0.0054	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	13126.38	504	chr3	195784555	.	GGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAA	G	13126.38	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.62;DP=11413;ExcessHet=0.0000;FS=1.094;InbreedingCoeff=-0.0422;MLEAC=1;MLEAF=0.025;MQ=53.80;MQRankSum=-2.840e-01;QD=17.98;ReadPosRankSum=-3.525e+00;SOR=0.720	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:367,363:730:99:0|1:195784555_GGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAA_G:13140,0,13096:195784555	19	0	1	1
chr3	195784560	195784560	A	0	exonic	MUC4	.	.	.	.	.	21	200	1	1	3	6	0.00744417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	118.35	499	chr3	195784560	.	A	G,*	118.35	.	AC=2,1;AF=0.167,0.083;AN=12;DP=11366;ExcessHet=0.0000;FS=1.094;InbreedingCoeff=0.0221;MLEAC=3,2;MLEAF=0.250,0.167;MQ=60.00;QD=0.16;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:367,0,363:730:99:0|1:195784555_GGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAA_G:13140,14268,28454,0,14186,13096:195784555	4	1	0	15
chr3	195784574	195784575	GC	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	59833.56	472	chr3	195784574	.	GC	G,*	59833.56	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=2.18;DP=11527;ExcessHet=0.0454;FS=2.301;InbreedingCoeff=0.3313;MLEAC=4,1;MLEAF=0.100,0.025;MQ=56.15;MQRankSum=1.54;QD=17.87;ReadPosRankSum=2.75;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:1,310,362:673:99:1|0:195784555_GGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAA_G:26000,14326,13279,11492,0,11453:195784555	16	0	3	1
chr3	195784575	195784575	C	0	exonic	MUC4	.	.	.	.	.	813	569	58	6	76	146	0.057947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	77.83	457	chr3	195784575	.	C	G,*	77.83	.	AC=2,5;AF=0.125,0.313;AN=16;BaseQRankSum=2.15;DP=11392;ExcessHet=0.0295;FS=1.452;InbreedingCoeff=0.1763;MLEAC=2,10;MLEAF=0.125,0.625;MQ=56.55;MQRankSum=8.88;QD=0.03;ReadPosRankSum=5.23;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:1,0,362:673:39:1|1:195784555_GGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAA_G:14547,14552,14933,39,633,0:195784555	3	1	0	13
chr3	195784576	195784719	GTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGA	0	exonic	MUC4	.	.	.	.	.	534	906	66	8	8	90	0.0432946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	57691.6	410	chr3	195784576	.	GTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGA	G,*	57691.6	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=7.19;DP=12602;ExcessHet=0.0454;FS=0.560;InbreedingCoeff=0.3313;MLEAC=4,1;MLEAF=0.100,0.025;MQ=56.89;MQRankSum=1.55;QD=14.10;ReadPosRankSum=3.14;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:1,301,447:749:99:1|0:195784555_GGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAA_G:46415,18883,16189,13409,0,11344:195784555	16	0	3	1
chr3	195784580	195784580	T	0	exonic	MUC4	.	.	.	.	.	527	898	72	9	16	106	0.04772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	71.44	410	chr3	195784580	.	T	C,*	71.44	.	AC=2,5;AF=0.056,0.139;AN=36;DP=12589;ExcessHet=0.0090;FS=0.560;InbreedingCoeff=0.3872;MLEAC=1,6;MLEAF=0.028,0.167;MQ=60.00;QD=0.02;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:1,0,447:749:99:1|1:195784555_GGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAA_G:35071,28147,26959,2065,2440,0:195784555	13	1	0	3
chr3	195784583	195784583	C	0	exonic	MUC4	.	.	.	.	.	522	904	72	9	15	105	0.0474183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	71.59	410	chr3	195784583	.	C	G,*	71.59	.	AC=2,5;AF=0.056,0.139;AN=36;DP=12544;ExcessHet=0.0090;FS=0.560;InbreedingCoeff=0.3654;MLEAC=1,6;MLEAF=0.028,0.167;MQ=60.00;QD=0.02;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:1,0,447:749:99:1|1:195784555_GGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAA_G:35071,28147,26959,2065,2440,0:195784555	13	1	0	3
chr3	195784652	195784652	C	0	exonic	MUC4	.	.	.	.	.	842	358	133	132	57	454	0.356694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5294	123606.13	363	chr3	195784652	.	C	G,*	123606.13	.	AC=16,4;AF=0.471,0.118;AN=34;BaseQRankSum=1.37;DP=11220;ExcessHet=2.7716;FS=0.566;InbreedingCoeff=-0.1110;MLEAC=19,5;MLEAF=0.559,0.147;MQ=55.09;MQRankSum=-1.168e+01;QD=15.32;ReadPosRankSum=-3.180e-01;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,150,428:578:99:0|1:195784652_C_*:23958,16474,16539,5508,0,4004:195784652	2	3	8	4
chr3	195784654	195784654	T	0	exonic	MUC4	.	.	.	.	.	811	382	134	136	59	465	0.347009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	117318.88	370	chr3	195784654	.	T	C,*	117318.88	.	AC=16,3;AF=0.471,0.088;AN=34;BaseQRankSum=1.41;DP=11323;ExcessHet=1.4183;FS=0.000;InbreedingCoeff=-0.0051;MLEAC=19,4;MLEAF=0.559,0.118;MQ=54.70;MQRankSum=-1.241e+01;QD=16.09;ReadPosRankSum=-3.410e-01;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,152,428:580:99:0|1:195784652_C_*:24236,16501,16542,5577,0,4050:195784652	3	3	8	4
chr3	195784655	195784655	C	0	exonic	MUC4	.	.	.	.	.	812	379	133	136	62	467	0.348237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4706	108863.73	369	chr3	195784655	.	C	*,T	108863.73	.	AC=4,15;AF=0.118,0.441;AN=34;BaseQRankSum=2.58;DP=11307;ExcessHet=1.4183;FS=0.000;InbreedingCoeff=-0.0051;MLEAC=5,17;MLEAF=0.147,0.500;MQ=54.71;MQRankSum=-1.230e+01;QD=14.80;ReadPosRankSum=-4.320e-01;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,428,152:580:99:0|1:195784652_C_*:24108,5570,4049,16496,0,16543:195784652	3	0	1	4
chr3	195784719	195784719	A	0	exonic	MUC4	.	.	.	.	.	956	119	187	211	49	658	0.719008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6333	181902.03	501	chr3	195784719	.	A	G,*	181902.03	.	AC=18,3;AF=0.600,0.100;AN=30;BaseQRankSum=-5.120e-01;DP=14927;ExcessHet=7.4688;FS=0.000;InbreedingCoeff=-0.1407;MLEAC=23,4;MLEAF=0.767,0.133;MQ=57.00;MQRankSum=-5.969e+00;QD=19.43;ReadPosRankSum=-2.732e+00;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,216,293:509:99:0|1:195784555_GGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAA_G:37154,13318,11837,10053,0,7481:195784555	0	4	8	6
chr3	195784844	195784844	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C6736A:p.L2246I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.784	P	0.092	B	.	.	0.986	N	0.55	N	1.38	T	-1.065	T	0.029	T	0.135	0.231	5.246	.	-2.619	-2.676	.	0.040	0.00356071409399	.	.	3.947e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs757417777	3.534e-05	0.0003	4.272e-05	2.776e-05	0.0004	2.705e-05	2.437e-05	0.0002	0.0002	0.0004	0	0	0	0	0	3.271e-05	3.479e-05	1.271e-05	6.98e-05	0.0008	8.191e-05	5.713e-05	0.0001	3.723e-05	2.866e-05	5.517e-05	3.604e-05	0.0001	0	6.839e-05	0	0	9.69e-05	0	4.477e-05	0	0	0.065	0.36310	T	0.331	0.18560	T	.	.	.	.	.	.	.	.	.	.	1	0.24637	N	.	.	.	1.38	0.36330	T	-0.1	0.08495	N	0.099	0.08088	-1.0650	0.10549	T	0.029	0.12322	T	6	0.053164303	0.05464	T	0.003561	0.08123	T	0.040	0.10527	0.138	0.04187	0.0138822411134	0.00435	2.3547091828810728E-4	0.00021	.	.	0.510082602501	0.40234	T	.	.	.	-0.302889	0.08389	T	-0.672855	0.07427	T	0.0843988419440803	0.10540	T	0.759324	0.38363	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25560	B	.;.	.;.	0.552030	0.09206	5.989	0.92255376197663097	0.21636	0.00042	0.00346	N	AEFDBI	0.041751	0.06389	N	-1.76110933178723	0.00648	0.02793257	-1.94796613980057	0.00392	0.01734401	1.80447474822864E-4	0.05786	0.615465	0.37627	0	0.601575	0.49859	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-3.270000	0.00589	-14.750000	0.00388	-2.378000	0.00301	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1324.06	764	chr3	195784844	.	G	T	1324.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=18684;ExcessHet=0.0000;FS=5.055;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.024;MQ=58.06;MQRankSum=-1.215e+01;QD=1.13;ReadPosRankSum=-8.900e-01;SOR=1.360	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1063,109:1172:99:0|1:195784843_A_G:1338,0,43991:195784843	20	0	1	0
chr3	195784867	195784867	-	CGTGT	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6712_6713insACACG:p.A2238Dfs*768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	5171.38	764	chr3	195784867	.	G	GCGTGT	5171.38	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.66;DP=18656;ExcessHet=0.0000;FS=3.029;InbreedingCoeff=-0.0422;MLEAC=1;MLEAF=0.025;MQ=58.04;MQRankSum=-1.752e+01;QD=4.76;ReadPosRankSum=-4.596e+00;SOR=0.936	GT:AD:DP:GQ:PL	0/1:894,193:1162:99:5185,0,36621	19	0	1	1
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931	.	.	542	16	26	927	11	1891	0.983264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0.0005	7.837e-05	0	0	1.29e-05	2	154602	rs751858617	0.0001	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0006	0.0009	8.604e-05	0	2.823e-05	0.0005	0.0002	9.85e-05	0.0002	7.712e-05	0.0004	0.0010	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	7.172e-05	0	0	0.0001	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	501656.58	740	chr3	195785315	.	T	C,TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	501656.58	.	AC=40,2;AF=0.952,0.048;AN=42;BaseQRankSum=1.87;DP=15694;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=57.82;MQRankSum=-3.320e-01;QD=34.25;ReadPosRankSum=-4.420e-01;SOR=0.107	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,573,0:573:99:.:.:20891,1720,0,21385,1763,23222	0	19	0	0
chr3	195785364	195785364	T	0	exonic	MUC4	.	.	.	.	.	441	974	97	0	10	107	0.0474328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	27392.49	834	chr3	195785364	.	T	C,*	27392.49	.	AC=5,1;AF=0.147,0.029;AN=34;BaseQRankSum=-9.670e-01;DP=14266;ExcessHet=1.7912;FS=2.937;InbreedingCoeff=-0.2375;MLEAC=6,1;MLEAF=0.176,0.029;MQ=57.01;MQRankSum=0.620;QD=7.11;ReadPosRankSum=-2.844e+00;SOR=0.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:229,187,0:416:99:0|1:195785364_T_C:6716,0,8896,7406,9459,16864:195785364	11	0	5	4
chr3	195785371	195785371	G	0	exonic	MUC4	.	.	.	.	.	5	198	22	0	1	23	0.0526316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	25396.43	834	chr3	195785371	.	G	A,*	25396.43	.	AC=7,1;AF=0.194,0.028;AN=36;BaseQRankSum=1.36;DP=14123;ExcessHet=0.5418;FS=3.054;InbreedingCoeff=-0.0202;MLEAC=7,1;MLEAF=0.194,0.028;MQ=56.87;MQRankSum=0.044;QD=6.67;ReadPosRankSum=-2.969e+00;SOR=1.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:234,165,0:399:99:0|1:195785364_T_C:6121,0,9323,6826,9819,16645:195785364	11	1	5	3
chr3	195785372	195785372	G	0	exonic	MUC4	.	.	.	.	.	529	885	99	0	9	108	0.0529695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	24926.62	834	chr3	195785372	.	G	C,*	24926.62	.	AC=5,1;AF=0.139,0.028;AN=36;BaseQRankSum=0.029;DP=14105;ExcessHet=1.7912;FS=3.806;InbreedingCoeff=-0.2213;MLEAC=6,1;MLEAF=0.167,0.028;MQ=56.89;MQRankSum=0.150;QD=6.36;ReadPosRankSum=-3.052e+00;SOR=1.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:235,164,0:399:99:0|1:195785364_T_C:6095,0,9369,6803,9862,16665:195785364	12	0	5	3
chr3	195785374	195785374	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	431121.8	754	chr3	195785374	.	T	C,*	431121.8	.	AC=36,1;AF=0.857,0.024;AN=42;BaseQRankSum=1.92;DP=14531;ExcessHet=1.1607;FS=1.262;InbreedingCoeff=-0.1351;MLEAC=36,1;MLEAF=0.857,0.024;MQ=56.84;MQRankSum=-6.000e-01;QD=31.27;ReadPosRankSum=1.39;SOR=0.348	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:157,229,0:386:99:.:.:6062,0,5906,6535,6592,13127	0	15	5	0
chr3	195785391	195785391	C	0	exonic	MUC4	.	.	.	.	.	459	975	85	2	1	90	0.0436488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	14855.56	802	chr3	195785391	.	C	*,G	14855.56	.	AC=1,5;AF=0.029,0.147;AN=34;BaseQRankSum=5.87;DP=13422;ExcessHet=1.8958;FS=4.251;InbreedingCoeff=-0.2308;MLEAC=1,6;MLEAF=0.029,0.176;MQ=56.41;MQRankSum=-2.403e+00;QD=4.45;ReadPosRankSum=-6.536e+00;SOR=1.060	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:235,0,106:341:99:0|1:195785364_T_C:3744,4451,14319,0,9868,9549:195785364	11	0	1	4
chr3	195788251	195788251	G	0	exonic	MUC4	.	.	.	.	.	489	878	72	7	76	162	0.0466884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	14334.43	769	chr3	195788251	.	G	C,*	14334.43	.	AC=2,1;AF=0.059,0.029;AN=34;BaseQRankSum=-1.805e+00;DP=7394;ExcessHet=0.3892;FS=1.795;InbreedingCoeff=0.1217;MLEAC=2,1;MLEAF=0.059,0.029;MQ=58.66;MQRankSum=1.54;QD=8.37;ReadPosRankSum=-1.017e+00;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:262,223,0:485:99:0|1:195788251_G_C:7458,0,9049,8243,9716,17960:195788251	14	0	2	4
chr3	195788517	195788564	GTGACCTGTGGATACTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3016_3063del:p.A1006_H1021del	.	.	448	1065	6	0	3	9	0.00280899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0015	0.0042	0.0017	0.0022	0.0042	0	0.0004	.	.	.	rs757424802	0.0008	0.0029	0.0009	0.0008	0.0030	0.0008	0.0008	0.0016	0.0012	0.0004	0.0014	0.0005	0.0016	0.0004	0.0030	0.0008	0.0007	0.0006	0.0004	0.0009	0.0004	0.0005	0.0014	0.0003	0.0003	0.0004	0.0003	0.0006	0	0.0010	0	0.0014	0	0	0.0002	0.0013	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5331.07	399	chr3	195788516	.	TGTGACCTGTGGATACTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGC	T,*	5331.07	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=2.15;DP=7802;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=2,3;MLEAF=0.111,0.167;MQ=59.18;MQRankSum=-5.023e+00;QD=4.78;ReadPosRankSum=0.456;SOR=0.693	GT:AD:DP:GQ:PL	0/2:262,0,157:419:99:5297,6086,16559,0,10474,9955	6	0	1	12
chr3	195788516	195788564	TGTGACCTGTGGATACTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGC	0	exonic	MUC4	.	.	.	.	.	448	1065	6	0	3	9	0.00280899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5331.07	399	chr3	195788516	.	TGTGACCTGTGGATACTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGC	T,*	5331.07	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=2.15;DP=7802;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=2,3;MLEAF=0.111,0.167;MQ=59.18;MQRankSum=-5.023e+00;QD=4.78;ReadPosRankSum=0.456;SOR=0.693	GT:AD:DP:GQ:PL	0/2:262,0,157:419:99:5297,6086,16559,0,10474,9955	6	0	1	12
chr3	195788539	195788541	GGG	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3039_3041del:p.P1014del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.009e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.099e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	58.2	384	chr3	195788538	.	AGGG	A,*	58.2	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=-1.508e+00;DP=8339;ExcessHet=0.6776;FS=0.531;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=0.05;ReadPosRankSum=-1.431e+00;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:262,0,157:419:99:.:.:5297,6086,16559,0,10474,9955	17	0	1	0
chr3	195788538	195788541	AGGG	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	58.2	384	chr3	195788538	.	AGGG	A,*	58.2	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=-1.508e+00;DP=8339;ExcessHet=0.6776;FS=0.531;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=0.05;ReadPosRankSum=-1.431e+00;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:262,0,157:419:99:.:.:5297,6086,16559,0,10474,9955	17	0	1	0
chr3	195788543	195788543	-	GTC	exonic;splicing	MUC4;MUC4	NM_001322468:exon3:c.3035+2->GAC	nonframeshift insertion	MUC4:NM_018406:exon2:c.3036_3037insGAC:p.T1012_S1013insD	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.099e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.619e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	65.42	350	chr3	195788543	.	T	TGTC,*	65.42	.	AC=1,3;AF=0.071,0.214;AN=14;BaseQRankSum=-3.210e-01;DP=7567;ExcessHet=0.6776;FS=0.531;InbreedingCoeff=-0.3548;MLEAC=2,6;MLEAF=0.143,0.429;MQ=60.00;MQRankSum=0.00;QD=0.06;ReadPosRankSum=-1.811e+00;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:262,0,157:419:99:.:.:5297,6086,16559,0,10474,9955	3	0	1	14
chr3	195788543	195788543	T	0	exonic;splicing	MUC4;MUC4	NM_001322468:exon3:c.3035+2A>0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	65.42	350	chr3	195788543	.	T	TGTC,*	65.42	.	AC=1,3;AF=0.071,0.214;AN=14;BaseQRankSum=-3.210e-01;DP=7567;ExcessHet=0.6776;FS=0.531;InbreedingCoeff=-0.3548;MLEAC=2,6;MLEAF=0.143,0.429;MQ=60.00;MQRankSum=0.00;QD=0.06;ReadPosRankSum=-1.811e+00;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:262,0,157:419:99:.:.:5297,6086,16559,0,10474,9955	3	0	1	14
chr3	195788680	195788680	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C2900G:p.T967S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.004	B	0.0	B	0.002	N	1.000	N	-0.345	N	1.26	T	-1.090	T	0.009	T	0.181	-0.165	3.196	-4.0	-1.465	-1.389	0.755	0.028	.	0.0028	0.00658946	0.0012	0.0134	0.0006	0	0	0	0.0025	0	0.0011319	175	154602	rs145639187	0.0004	0.0004	0.0004	0.0003	0.0128	0.0004	0.0003	0.0118	0.0114	0.0128	0.0008	0	0	0	0.0012	1.529e-05	0.0011	3.484e-05	0.0036	0.0037	0.0036	0.0037	0.0118	0.0034	0.0033	0.0110	0.0106	0.0118	0	0.0037	0	0	0	0	5.881e-05	0.0014	0	0.0	0.91255	D	0.672	0.06265	T	.	.	.	.	.	.	0.001991	0.00848	N	3.753960	1	0.08975	N	.	.	.	1.26	0.36330	T	-0.4	0.13805	N	0.042	0.05162	-1.0904	0.05466	T	0.009	0.03054	T	10	0.0033913255	0.00059	T	.	.	.	0.028	0.06331	0.139	0.04277	0.0138822411134	0.00435	7.562914416904242E-4	0.00069	.	.	0.377678513527	0.21926	T	.	.	.	-0.585277	0.00179	T	-0.603098	0.12552	T	0.0136110763049243	0.00252	T	0.370463	0.08742	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23395	B	.;.	.;.	-1.455710	0.00322	0.006	0.1516783364105285	0.00361	0.00374	0.01900	N	AEFBI	0.050932	0.08950	N	-1.98259026424939	0.00230	0.009881876	-2.03641208469831	0.00256	0.01129737	3.37610804113138E-4	0.06583	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567339	0.31927	0	.	.	2.34	-4.0	0.03787	-1.250000	0.02995	-5.751000	0.01608	-3.702000	0.00065	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1933:0.1479:0.2203:0.4385	0.755	0.00933	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	5140.98	199	chr3	195788680	.	G	C	5140.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.444;DP=4059;ExcessHet=0.0000;FS=3.347;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.97;ReadPosRankSum=0.850;SOR=0.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,134:271:99:0|1:195788679_G_C:5155,0,5336:195788679	20	0	1	0
chr4	967750	967750	C	G	exonic	DGKQ	.	nonsynonymous SNV	DGKQ:NM_001347:exon7:c.G864C:p.E288D,	.	.	400	1120	2	0	0	2	0.000892061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.002	B	0.002	B	0.332	N	1.000	N	0	N	-1.43	T	-1.013	T	0.019	T	0.122	1.211	9.917	-0.105	-0.050	0.201	1.354	0.015	0.100381384939	0.0002	0.00139776	0.0005	0	0	0.0026	0	0.0003	0.0045	0.0004	0.0003493	54	154602	rs199893491	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0002	0.0015	0.0014	0.0003	0	0.0004	0.0019	3.861e-05	0.0005	9.631e-05	0.0005	0.0004	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	9.698e-05	0.0020	0.0016	0	0	0	0.0006	0.0031	0	0	7.353e-05	0	0.0004	0.271	0.15984	T	0.31	0.19721	T	0.001	0.07471	B	0.002	0.06944	B	0.331732	0.14102	N	0.709161	0.99999	0.08975	N	0.615	0.15706	N	-1.43	0.80730	T	-0.59	0.17624	N	0.155	0.16028	-1.0134	0.25848	T	0.019	0.08126	T	10	0.00444448	0.00091	T	0.100381	0.77262	D	0.131	0.35738	0.088	0.00943	0.636509788131	0.63352	0.2809234431563233	0.28005	0.111139760548	0.12538	0.717511892319	0.69683	T	0.042174	0.26097	T	-0.458757	0.01001	T	-0.444979	0.28253	T	0.00236147041178611	0.00024	T	0.374163	0.08891	T	0.04737121	0.08085	0.038558327	0.03751	0.04737121	0.08084	0.038558327	0.03751	-3.994	0.23714	T	.	.	0.087	0.11269	B	.	.	0.914773	0.12892	9.404	0.89919946322771782	0.19219	0.11996	0.16994	N	AEFDBCI	0.070472	0.13991	N	-0.929817800963356	0.10149	0.4836547	-1.03129673983873	0.09100	0.4509339	0.999940823255344	0.47345	0.660377	0.49826	0	0.694456	0.67091	0	0.619478	0.44681	0	0.635551	0.53088	0	.	.	3.74	-0.105	0.12938	-0.038000	0.12096	.	.	-0.181000	0.10308	0.000000	0.06391	0.034000	0.21380	0.088000	0.17685	0.1777:0.4633:0.1734:0.1856	1.354	0.02048	759	0.50631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1253.98	52	chr4	967750	.	C	G	1253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.384e+00;DP=870;ExcessHet=0.0000;FS=1.537;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=0.746;SOR=0.518	GT:AD:DP:GQ:PL	0/1:58,52:110:99:1268,0,1533	20	0	1	0
chr4	1025268	1025268	-	CACA	exonic	FGFRL1	.	frameshift insertion	FGFRL1:NM_021923:exon6:c.1436_1437insCACA:p.S486Tfs*67	.	.	414	774	328	1	5	335	0.175719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	734.34	34	chr4	1025266	.	CCA	C,CCACACA	734.34	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-9.200e-02;DP=1325;ExcessHet=4.7172;FS=1.630;InbreedingCoeff=-0.2727;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.06;ReadPosRankSum=0.069;SOR=0.760	GT:AD:DP:GQ:PL	0/1:68,8,0:76:59:59,0,2134,263,2159,2422	12	0	8	0
chr4	1380225	1380225	-	TGAAGG	exonic	UVSSA	.	nonframeshift insertion	UVSSA:NM_001317934:exon11:c.1747_1748insTGAAGG:p.K584_C585insVK	UV-sensitive syndrome 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.717e-05	0	0	0	0	0	0.0013	0.0001	1.94e-05	3	154602	rs764483492	1.577e-05	1.573e-05	1.5e-05	1.655e-05	0.0003	1.05e-05	8.77e-06	0.0002	0.0001	0.0003	0	0	0	0	0.0002	0	4.982e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1284.94	36	chr4	1380225	.	C	CTGAAGG	1284.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.766;DP=774;ExcessHet=0.0000;FS=1.076;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.78;ReadPosRankSum=-1.830e-01;SOR=0.876	GT:AD:DP:GQ:PL	0/1:26,33:59:99:1299,0,993	20	0	1	0
chr4	1403186	1403186	C	A	exonic	NKX1-1	.	nonsynonymous SNV	NKX1-1:NM_001290079:exon2:c.G1093T:p.G365C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	.	.	.	.	-2.66	D	0.579	D	0.711	D	0.33	2.818	15.39	2.53	1.248	2.953	8.319	0.276	0.940381915828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.989e-06	1.523e-05	0	7.265e-06	3.515e-05	6.6e-07	2.5e-07	5.83e-06	2.18e-06	0	0	0	0	0	0	0	0	3.515e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.66	0.90272	D	-1.44	0.35399	N	0.231	0.25989	0.579	0.91621	D	0.711	0.90072	D	5	0.35078844	0.51943	T	0.940382	0.99578	D	0.276	0.59253	0.17	0.07536	0.815788755872	0.81405	0.5530436285926666	0.55230	2.3366587761	0.96723	.	.	.	0.098576	0.40252	T	0.0666899	0.60443	T	-0.141981	0.59946	T	0.889991223812103	0.54076	D	0.589541	0.21661	T	0.30523652	0.53370	0.32575473	0.58488	0.30523652	0.53370	0.32575473	0.58487	-13.047	0.89556	D	.	.	0.253	0.48756	B	.	.	3.724591	0.53242	23.3	0.99632649569196241	0.76142	0.64616	0.32465	D	AEFDBCI	0.315567	0.42010	N	-0.0964382645586347	0.37548	2.186098	-0.164044181450269	0.32870	1.874487	0.995434014086103	0.34125	0.59774	0.34471	0	0.547309	0.14657	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	2.53	2.53	0.29594	2.338000	0.43614	4.419000	0.43309	0.439000	0.21057	0.271000	0.25055	1.000000	0.68203	0.145000	0.20128	0.0:1.0:0.0:0.0	8.319	0.31276	866	0.32446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2650.98	36	chr4	1403186	.	C	A	2650.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.65;DP=954;ExcessHet=0.0000;FS=1.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=-8.320e-01;SOR=0.858	GT:AD:DP:GQ:PL	0/1:115,112:227:99:2665,0,2360	20	0	1	0
chr4	3074882	3074882	-	CAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAG:p.Q38_P39insQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,49,2,0,0,0:51:78:.:.:2136,2051,1995,148,147,0,1873,1841,78,1779,2051,1995,147,1841,1995,2051,1995,147,1841,1995,1995,2051,1995,147,1841,1995,1995,1995	3	1	1	0
chr4	3074880	3074882	CAG	-	exonic	HTT	.	nonframeshift deletion	HTT:NM_002111:exon1:c.55_57del:p.Q38del,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,49,2,0,0,0:51:78:.:.:2136,2051,1995,148,147,0,1873,1841,78,1779,2051,1995,147,1841,1995,2051,1995,147,1841,1995,1995,2051,1995,147,1841,1995,1995,1995	3	1	1	0
chr4	3074882	3074882	-	CAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAG:p.Q38_P39insQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,49,2,0,0,0:51:78:.:.:2136,2051,1995,148,147,0,1873,1841,78,1779,2051,1995,147,1841,1995,2051,1995,147,1841,1995,1995,2051,1995,147,1841,1995,1995,1995	3	1	1	0
chr4	3074882	3074882	-	CAGCAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAGCAG:p.Q38_P39insQQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,49,2,0,0,0:51:78:.:.:2136,2051,1995,148,147,0,1873,1841,78,1779,2051,1995,147,1841,1995,2051,1995,147,1841,1995,1995,2051,1995,147,1841,1995,1995,1995	3	1	1	0
chr4	3074882	3074882	-	CAGCAGCAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAGCAGCAG:p.Q38_P39insQQQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,49,2,0,0,0:51:78:.:.:2136,2051,1995,148,147,0,1873,1841,78,1779,2051,1995,147,1841,1995,2051,1995,147,1841,1995,1995,2051,1995,147,1841,1995,1995,1995	3	1	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.01	B	0.01	B	0.003	N	0.997	D	1.87	L	.	.	-0.870	T	0.178	T	0.274	3.086	16.31	1.7	0.426	3.325	6.857	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7325.55	151	chr4	6862306	.	T	C	7325.55	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.348e+00;DP=3019;ExcessHet=54.0936;FS=242.021;InbreedingCoeff=-0.9914;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.50;ReadPosRankSum=0.996;SOR=13.535	GT:AD:DP:GQ:PL	0/1:101,56:157:99:440,0,2031	0	0	21	0
chr4	68476303	68476303	G	A	exonic	TMPRSS11E	.	nonsynonymous SNV	TMPRSS11E:NM_014058:exon7:c.G572A:p.R191K,	.	.	432	1073	16	1	0	18	0.00831793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.856	P	0.388	B	0.000	D	0.735	N	0	N	-0.01	T	-0.999	T	0.026	T	0.61	1.882	12.25	4.71	1.329	5.569	13.582	0.317	.	0.0015	0.0191693	0.0099	0.0034	0.0025	0.0350	0.0192	0.0022	0.0132	0.0332	0.0089326	1381	154602	rs138883861	0.0048	0.0048	0.0040	0.0056	0.0541	0.0047	0.0047	0.0522	0.0514	0.0027	0.0024	0.0001	0.0541	0.0187	0.0030	0.0004	0.0072	0.0318	0.0051	0.0051	0.0036	0.0067	0.0434	0.0048	0.0047	0.0388	0.0370	0.0030	0	0.0014	0	0.0434	0.0166	0	0.0008	0.0043	0.0362	0.214	0.19361	T	0.225	0.25514	T	0.856	0.47190	P	0.388	0.44086	B	0.000140	0.49741	D	0.000000	0.734502	0.29796	N	0	0.06538	N	-0.01	0.62762	T	-2.1	0.47852	N	0.801	0.79696	-0.9988	0.30255	T	0.026	0.11220	T	10	0.009520739	0.00215	T	.	.	.	0.317	0.63904	.	.	0.814305628724	0.81256	0.8757017065038365	0.87537	0.347502600648	0.36640	0.473449975252	0.35155	T	0.241795	0.61040	T	-0.367462	0.03724	T	-0.244723	0.50336	T	0.0446611687074535	0.04540	T	0.692831	0.30243	T	0.22197078	0.44786	0.2519904	0.50820	0.22197078	0.44786	0.2519904	0.50819	-5.974	0.46062	T	.	.	0.253	0.48746	B	.	.	2.265371	0.28947	17.96	0.9759299570249157	0.34803	0.93170	0.57508	D	AEFDIJ	0.687624	0.64890	D	-0.000828758884280856	0.41818	2.508163	0.0516300828608658	0.42151	2.544544	0.957410023018017	0.28302	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.56	4.71	0.59010	7.072000	0.76466	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.001000	0.02609	0.0:0.0:0.8432:0.1568	13.582	0.61376	759	0.50631	Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3134.98	33	chr4	68476303	.	G	A	3134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.040;DP=933;ExcessHet=0.0000;FS=1.077;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=1.55;SOR=0.597	GT:AD:DP:GQ:PL	0/1:112,119:231:99:3149,0,2991	20	0	1	0
chr4	69020087	69020087	T	C	exonic;splicing	UGT2B10;UGT2B10	NM_001075:exon2:c.263+2A>G;NM_001144767:exon2:c.263+2A>G	unknown	UNKNOWN,	.	.	428	1082	11	0	1	12	0.00505747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0005	0.0002	0	0.0001	0	6.251e-05	0.0045	0.0029	0.0001153	3	26028	rs374850441	0.0003	0.0003	0.0002	0.0004	0.0028	0.0002	0.0002	0.0025	0.0024	0.0001	4.488e-05	0	2.534e-05	1.877e-05	0.0005	7.936e-05	0.0004	0.0028	0.0001	0.0001	9.317e-05	0.0002	0.0023	9.933e-05	8.419e-05	0.0013	0.0010	0.0002	0	0	0	0	0	0	6.078e-05	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3099.98	42	chr4	69020087	.	T	C	3099.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.800e-02;DP=1181;ExcessHet=0.0000;FS=3.562;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=1.56;SOR=0.930	GT:AD:DP:GQ:PL	0/1:123,122:245:99:3114,0,3159	20	0	1	0
chr4	69842016	69842016	A	C	exonic	SULT1E1	.	nonsynonymous SNV	SULT1E1:NM_005420:exon8:c.T863G:p.L288R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.002	N	1.000	N	3.495	M	4.41	T	-1.076	T	0.040	T	0.778	3.104	16.37	4.23	1.904	7.364	11.617	0.212	0.0047219538079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.375e-06	1.368e-06	2.735e-06	0	0.0003	2.3e-07	9e-08	6.107e-05	2.527e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.002350	0.36727	N	0.117626	0.999999	0.08975	N	3.3	0.90472	M	4.41	0.02196	T	-5.49	0.85765	D	0.792	0.78832	-1.0764	0.08063	T	0.040	0.17319	T	10	0.8882585	0.88160	D	0.004722	0.11753	T	0.212	0.50341	0.594	0.72371	0.387689773709	0.38380	0.8907127399943588	0.89041	0.660683800646	0.58883	0.379432141781	0.22176	T	0.802549	0.94981	D	0.0848565	0.62605	D	-0.115886	0.62138	T	0.967458009719849	0.67914	D	0.920308	0.71149	D	0.8168399	0.85008	0.65578926	0.79846	0.8168399	0.85009	0.65578926	0.79847	-10.296	0.75665	D	.	.	0.634	0.70263	P	.	.	4.063040	0.60307	24.2	0.99575268976395659	0.72682	0.95328	0.64293	D	AEFI	0.726199	0.67494	D	0.488636950981953	0.66425	4.948462	0.261578746361498	0.53310	3.500621	0.999956781891744	0.48110	0.554377	0.28877	0	0.547309	0.14657	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.23	4.23	0.49319	7.939000	0.87144	.	.	0.691000	0.84096	0.881000	0.31008	1.000000	0.68203	0.738000	0.35369	1.0:0.0:0.0:0.0	11.617	0.50350	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	673.98	36	chr4	69842016	.	A	C	673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.672;DP=799;ExcessHet=0.0000;FS=2.846;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.02;ReadPosRankSum=-1.945e+00;SOR=1.054	GT:AD:DP:GQ:PL	0/1:63,33:96:99:688,0,1512	20	0	1	0
chr4	75975768	75975768	A	G	exonic	SDAD1	.	nonsynonymous SNV	SDAD1:NM_001288983:exon5:c.T443C:p.I148T	.	.	444	1076	1	1	0	3	0.00139211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.556	P	0.403	B	0.000	D	1.000	D	1.355	L	2.72	T	-1.115	T	0.030	T	0.505	3.052	16.19	5.2	2.081	5.009	13.288	0.074	0.00935520828947	0.0002	0.00139776	0.0005	0	8.637e-05	0.0059	0	0.0001	0	0.0003	0.0005239	81	154602	rs140040693	0.0004	0.0004	0.0004	0.0004	0.0098	0.0004	0.0003	0.0090	0.0087	0	2.236e-05	0	0.0098	0	0.0002	0.0001	0.0001	0.0002	0.0003	0.0003	0.0003	0.0003	0.0064	0.0002	0.0002	0.0047	0.0041	0	0	0	0	0.0064	0	0	0.0001	0.0005	0.0002	0.021	0.53900	D	0.039	0.51112	D	0.556	0.38244	P	0.338	0.44588	B	0.000002	0.62929	D	0.101163	0.999931	0.51612	D	2.125	0.59049	M	2.69	0.12268	T	-4.08	0.74742	D	0.521	0.55106	-1.1153	0.02651	T	0.030	0.12804	T	10	0.013062209	0.00278	T	0.009355	0.24530	T	0.074	0.21613	.	.	0.397540356873	0.39371	0.4243354505013524	0.42350	0.06861527833	0.07686	0.591746628284	0.51740	T	0.176925	0.52704	T	-0.421693	0.01668	T	-0.376175	0.36169	T	0.120280908326679	0.14458	T	0.778122	0.41194	T	0.33969858	0.56255	0.34732798	0.60388	0.33969858	0.56255	0.34732798	0.60388	-10.405	0.76299	D	.	.	0.086	0.11893	B	.;.	.;.	3.698224	0.52727	23.3	0.9948059827349659	0.66850	0.98438	0.82779	D	AEFGBI	0.534139	0.55330	D	0.253165358972408	0.53794	3.547028	0.349640544857432	0.58487	4.019346	0.999998872655622	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	5.000000	0.63685	9.205000	0.79205	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.288	0.59690	804	0.43891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1139.98	36	chr4	75975768	.	A	G	1139.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=0.481;SOR=0.745	GT:AD:DP:GQ:PL	0/1:47,42:89:99:1154,0,1250	20	0	1	0
chr4	82485718	82485718	G	C	exonic	TMEM150C	.	stopgain	TMEM150C:NM_001080506:exon8:c.C543G:p.Y181X	.	.	.	.	.	.	.	.	.	0.0001	0.182	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.931	20.0	-0.524	-0.063	0.904	10.727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.197	0.35620	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554516	0.95935	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.551913	0.96631	36	0.99231645482670716	0.56246	0.84936	0.44032	D	AEFBI	0.672136	0.63864	D	0.313603425530097	0.56846	3.850099	0.0790961557728284	0.43499	2.650366	0.0045372004880548	0.10604	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.41	-0.524	0.11325	0.925000	0.28392	2.468000	0.32884	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.5775:0.0:0.4225:0.0	10.727	0.45273	936	0.14734	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1053	421.18	37	chr4	82485718	.	G	C	421.18	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-8.010e-01;DP=774;ExcessHet=0.6776;FS=135.841;InbreedingCoeff=-0.1537;MLEAC=4;MLEAF=0.105;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.439;SOR=7.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,15:37:99:0|1:82485718_G_C:215,0,374:82485718	15	0	4	2
chr4	87615398	87615398	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1101	241	102	25	53	205	0.239748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8813.52	57	chr4	87615398	.	T	C,*	8813.52	.	AC=13,3;AF=0.310,0.071;AN=42;BaseQRankSum=-1.140e-01;DP=1014;ExcessHet=1.5101;FS=0.523;InbreedingCoeff=-0.0096;MLEAC=13,3;MLEAF=0.310,0.071;MQ=59.94;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-8.740e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/1:27,18,0:45:99:457,0,651,537,705,1242	8	3	7	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	6438.4	35	chr4	87615730	.	ATAG	A,*	6438.4	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=2.60;DP=1174;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.85;MQRankSum=-3.073e+00;QD=6.83;ReadPosRankSum=1.06;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,17,22:39:99:0|1:87615730_ATAG_A:2486,954,848,753,0,631:87615730	0	2	2	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	5806.96	35	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	C,*	5806.96	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=1.10;DP=1195;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.82;MQRankSum=-3.073e+00;QD=6.42;ReadPosRankSum=0.870;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,17,22:39:99:0|1:87615730_ATAG_A:2470,943,920,749,0,787:87615730	0	2	2	0
chr4	90308304	90308304	G	A	exonic	CCSER1	.	nonsynonymous SNV	CCSER1:NM_001145065:exon2:c.G20A:p.R7K	.	.	435	1056	28	3	0	34	0.0158434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	0.869	D	1.525	L	0.38	T	-0.155	T	0.386	T	0.58	5.157	32	5.14	2.789	9.121	19.574	0.250	.	0.0012	0.00179712	0.0041	0.0002	0.0029	0	0.0010	0.0033	0.0056	0.0150	0.0015718	243	154602	rs199614921	0.0014	0.0014	0.0012	0.0017	0.0097	0.0014	0.0013	0.0076	0.0069	0.0002	0.0010	0.0003	0	0.0002	0.0097	0.0011	0.0020	0.0073	0.0012	0.0012	0.0011	0.0014	0.0083	0.0011	0.0010	0.0063	0.0055	0.0003	0	0.0016	0.0003	0	0.0002	0.0068	0.0015	0.0024	0.0083	0.0	0.91255	D	0.0	0.92824	D	0.998	0.90584	D	0.99	0.84481	D	0.000000	0.84330	D	0.000000	0.869434	0.35535	D	0.975	0.24501	L	0.38	0.63240	T	-1.74	0.41239	N	0.756	0.75466	-0.1550	0.78793	T	0.386	0.74172	T	10	0.009298861	0.00210	T	.	.	.	0.250	0.55888	.	.	0.529861178392	0.52634	0.4101270892965929	0.40928	0.3886121274	0.40126	0.821383595467	0.85240	D	0.15335	0.49416	T	-0.267719	0.12012	T	-0.15389	0.58899	T	0.0490782486433415	0.05338	T	0.915508	0.71859	D	0.68549484	0.77266	0.68796575	0.81645	0.68549484	0.77268	0.68796575	0.81646	-6.656	0.58436	T	.	.	0.315	0.56291	B	.;.	.;.	4.726994	0.76090	26.4	0.99709133527626459	0.81213	0.99785	0.99449	D	AEFI	0.910022	0.86741	D	0.821701050646659	0.87442	9.21981	0.821121723663698	0.91222	10.779	0.999995562841401	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.14	5.14	0.70008	9.224000	0.94368	11.091000	0.85930	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.574	0.95428	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	474.98	37	chr4	90308304	.	G	A	474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.420e-01;DP=758;ExcessHet=0.0000;FS=2.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.79;ReadPosRankSum=-3.870e-01;SOR=0.366	GT:AD:DP:GQ:PL	0/1:40,21:61:99:489,0,1154	20	0	1	0
chr4	97981252	97981252	T	C	exonic	STPG2	.	nonsynonymous SNV	STPG2:NM_174952:exon6:c.A679G:p.K227E,	.	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.015	B	0.010	N	1.000	N	-0.405	N	2.8	T	-0.950	T	0.003	T	0.044	-1.280	0.042	1.6	0.332	0.483	2.427	0.017	.	0.0055	0.00678914	0.0018	0.0180	0.0015	0	0	0.0002	0.0011	0.0002	0.0018111	280	154602	rs76740552	0.0007	0.0007	0.0008	0.0007	0.0219	0.0007	0.0007	0.0206	0.0201	0.0219	0.0013	0.0007	0	0	0.0057	0.0001	0.0017	0.0002	0.0059	0.0059	0.0062	0.0056	0.0200	0.0056	0.0054	0.0189	0.0184	0.0200	0	0.0023	0	0	0	0.0068	0.0002	0.0057	0	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.015	0.17295	B	0.009707	0.30236	N	0.284305	0.999964	0.18878	N	0	0.06538	N	2.8	0.11082	T	0.58	0.02598	N	0.098	0.07949	-0.9500	0.40972	T	0.003	0.00961	T	10	0.0029162765	0.00047	T	.	.	.	0.017	0.02790	.	.	0.0401082797425	0.02173	0.21351012569015948	0.21267	0.0153228273901	0.01459	0.286774337292	0.08454	T	0.001139	0.00643	T	-0.724735	0.00026	T	-0.798871	0.01931	T	0.00186094577679754	0.00019	T	0.454655	0.12977	T	0.08253378	0.19017	0.05749236	0.10462	0.08253378	0.19017	0.05749236	0.10462	3.716	0.00011	T	.	.	0.099	0.16670	B	.	.	1.348434	0.17559	13.23	0.25910763634928974	0.01217	0.20121	0.20923	N	AEFHCI	0.053152	0.09551	N	-1.09393135313587	0.06754	0.3118344	-0.988994963681917	0.10032	0.5027321	2.19626724844983E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.41	1.6	0.22686	0.507000	0.22383	1.667000	0.27933	0.665000	0.62972	0.530000	0.27189	0.983000	0.30585	0.858000	0.40661	0.2322:0.378:0.0:0.3898	2.427	0.04189	913	0.21160	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	547.98	47	chr4	97981252	.	T	C	547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.462;DP=816;ExcessHet=0.0000;FS=0.990;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.98;ReadPosRankSum=-9.560e-01;SOR=0.870	GT:AD:DP:GQ:PL	0/1:35,26:61:99:562,0,827	20	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.973	D	0.964	D	0.274	N	0.986	N	1.745	L	3.67	T	-1.090	T	0.040	T	0.61	3.658	18.60	2.36	0.190	4.136	8.164	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.45	6049.22	166	chr4	99318097	.	C	G	6049.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-2.037e+00;DP=3479;ExcessHet=30.0624;FS=302.606;InbreedingCoeff=-0.7873;MLEAC=19;MLEAF=0.475;MQ=59.97;MQRankSum=0.00;QD=2.22;ReadPosRankSum=-1.750e-01;SOR=13.960	GT:AD:DP:GQ:PL	0/1:124,76:200:99:422,0,1693	2	0	18	1
chr4	99345014	99345014	G	A	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon5:c.C415T:p.H139Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.000798722	0.0001	0.0012	0.0002	0	0	0	0	0	0.0001229	19	154602	rs371660994	5.951e-05	5.951e-05	6.67e-05	5.225e-05	0.0019	4.882e-05	4.561e-05	0.0016	0.0014	0.0019	0.0002	0	0	0	0.0003	0	0.0002	0	0.0005	0.0005	0.0005	0.0006	0.0018	0.0004	0.0004	0.0015	0.0014	0.0018	0	0.0004	0	0	0	0	0	0	0	.	.	.	1.0	0.01155	T	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	.	.	.	-1.365	0.00641	N	.	.	.	.	.	.	0.07	0.04307	.	.	.	.	.	.	.	0.012416273	0.00267	T	.	.	.	.	.	.	.	0.284539287134	0.28064	0.4128988542581953	0.41205	.	.	0.290951907635	0.09061	T	0.021915	0.16988	T	-0.392664	0.02585	T	-0.350041	0.39201	T	.	.	.	0.864713	0.87759	D	0.21729632	0.44210	0.20465514	0.44598	0.21729632	0.44210	0.20465514	0.44597	-1.507	0.01778	T	.	.	0.076	0.13737	B	.;.;.	.;.;.	-1.298892	0.00439	0.009	0.26994769242927336	0.01319	0.01801	0.05620	N	AEFI	0.449060	0.50403	N	.	.	.	.	.	.	1.2549270797779E-5	0.02871	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	4.14	-4.08	0.03696	-1.915000	0.01669	-8.586000	0.00945	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.501:0.0:0.2795:0.2196	5.494	0.16085	624	0.65661	Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal;Alcohol dehydrogenase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4037.98	34	chr4	99345014	.	G	A	4037.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.284e+00;DP=1930;ExcessHet=0.0000;FS=1.974;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=0.00;QD=14.22;ReadPosRankSum=1.34;SOR=0.579	GT:AD:DP:GQ:PL	0/1:130,154:284:99:4052,0,3555	20	0	1	0
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4	6153.33	123	chr4	99347057	.	C	G	6153.33	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-8.170e-01;DP=2885;ExcessHet=20.9642;FS=293.864;InbreedingCoeff=-0.6783;MLEAC=17;MLEAF=0.425;MQ=59.97;MQRankSum=0.00;QD=3.24;ReadPosRankSum=-6.350e-01;SOR=13.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,71:151:99:.:.:646,0,1164	4	0	16	1
chr4	101196010	101196010	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G165C:p.R55S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.982	D	0.000	D	1.000	D	3.525	H	3.38	T	0.145	D	0.589	D	0.953	2.042	12.78	2.0	-0.059	-0.164	10.653	0.542	0.353534218001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.017	0.83351	D	0.998	0.73220	D	0.966	0.71341	D	0.000004	0.62929	D	0.056881	0.999911	0.81001	D	3.325	0.90780	M	3.38	0.70365	T	-3.07	0.88065	D	0.939	0.94550	0.145	0.84969	D	0.589	0.85259	D	10	0.5369051	0.63499	D	0.353534	0.92331	D	0.542	0.80901	0.434	0.48500	0.966502697184	0.96614	0.9224824476460386	0.92225	2.40020819914	0.97175	0.78887450695	0.80271	T	0.798026	0.94820	D	0.316579	0.84226	D	0.216967	0.84021	D	0.9861741065979	0.76962	D	0.997517	0.98983	D	0.96387434	0.97668	0.8698088	0.92852	0.96387434	0.97668	0.8698088	0.92853	-3.337	0.99288	T	0.927214547401517	0.96958	0.982	0.97319	P	.;.;.;.;.;.	.;.;.;.;.;.	2.607304	0.33856	19.46	0.98219283723808459	0.39281	0.55150	0.29792	D	AEFBI	0.165597	0.29210	N	0.14515803016552	0.48582	3.068794	0.0200804544599741	0.40649	2.429266	0.99974081000684	0.42466	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	2.0	0.25495	-0.541000	0.06187	0.576000	0.19656	-0.172000	0.11096	0.180000	0.24064	0.998000	0.33993	0.994000	0.71098	0.0:0.5748:0.0:0.4252	10.653	0.44850	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	197.31	173	chr4	101196010	.	C	G	197.31	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.836e+00;DP=1770;ExcessHet=0.1072;FS=168.437;InbreedingCoeff=-0.0910;MLEAC=2;MLEAF=0.056;MQ=60.00;MQRankSum=0.00;QD=0.62;ReadPosRankSum=0.644;SOR=9.129	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,29:202:83:0|1:101196007_C_T:83,0,6237:101196007	16	0	2	3
chr4	101196011	101196011	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G164C:p.R55T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.988	D	0.000	D	1.000	D	3.525	H	3.41	T	0.511	D	0.660	D	0.889	3.815	19.37	5.65	2.824	7.496	19.084	0.561	0.243660755304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.021	0.79402	D	0.998	0.73220	D	0.975	0.73362	D	0.000004	0.62929	D	0.056881	0.999999	0.81001	D	3.325	0.90780	M	3.41	0.70365	T	-3.5	0.88148	D	0.874	0.87157	0.511	0.90696	D	0.660	0.88193	D	10	0.82876897	0.82046	D	0.243661	0.88811	D	0.561	0.82003	0.413	0.45052	0.874410110515	0.87318	0.9160898921350675	0.91583	2.69341285729	0.98560	0.813101530075	0.83969	D	0.783131	0.94293	D	0.365848	0.87692	D	0.287739	0.87534	D	0.98066520690918	0.73482	D	0.997593	0.99042	D	0.93468946	0.94708	0.8180235	0.89412	0.93468946	0.94709	0.8180235	0.89413	-3.957	0.99447	T	0.7273859440343144	0.80888	0.972	0.95832	P	.;.;.;.;.;.	.;.;.;.;.;.	4.473321	0.69731	25.4	0.96904989471550151	0.31554	0.98495	0.83383	D	AEFBI	0.911333	0.87045	D	0.976696518006935	0.94982	13.20586	0.918319001961986	0.96323	14.55806	1.0	0.98316	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.624000	0.82310	7.603000	0.61629	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.084	0.93179	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	534.79	173	chr4	101196011	.	C	G	534.79	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.373e+00;DP=2716;ExcessHet=1.1607;FS=204.564;InbreedingCoeff=-0.4002;MLEAC=9;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=1.07;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,29:202:83:0|1:101196007_C_T:83,0,6237:101196007	2	0	5	14
chr4	102690717	102690717	C	G	exonic	MANBA	.	nonsynonymous SNV	MANBA:NM_005908:exon6:c.G728C:p.S243T,	Mannosidosis, beta, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.081	B	0.021	B	0.010	N	0.843	N	1.75	L	0.27	T	-0.978	T	0.150	T	0.278	1.076	9.392	4.19	1.347	2.035	11.824	0.072	0.0137621659089	.	0.000199681	8.241e-06	0	0	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs558147078	1.376e-06	1.368e-06	0	2.764e-06	2.344e-05	2.3e-07	9e-08	3.89e-06	1.46e-06	0	0	0	0	0	0	0	0	2.344e-05	6.581e-06	6.565e-06	1.287e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.207	0.21066	T	0.469	0.12386	T	0.047	0.24602	B	0.021	0.19346	B	0.009867	0.30165	N	0.413619	0.843134	0.28602	N	2.22	0.62911	M	0.27	0.59176	T	-0.99	0.26200	N	0.17	0.18512	-0.9775	0.35571	T	0.150	0.47822	T	10	0.09206352	0.16180	T	0.013762	0.33405	T	0.072	0.21020	0.321	0.30064	0.51721326083	0.51363	0.47725334954936904	0.47645	0.0983236163126	0.11101	0.478397965431	0.35836	T	0.250217	0.62029	T	-0.170914	0.25095	T	-0.382652	0.35411	T	0.198115110397339	0.20311	T	0.727427	0.34274	T	0.04006255	0.05647	0.0598956	0.11318	0.04006255	0.05647	0.0598956	0.11318	-5.81	0.44661	T	0.3237990493885038	0.42195	0.089	0.22208	B	.;.;.;.;.	.;.;.;.;.	3.020774	0.40428	21.2	0.8993972450031017	0.19237	0.86297	0.45550	D	AEFBI	0.194528	0.32160	N	-0.401493736842382	0.25417	1.379584	-0.271589689182837	0.29039	1.623755	0.999915741779016	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.02	4.19	0.48645	2.108000	0.41478	3.297000	0.37352	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.0:0.9195:0.0:0.0805	11.824	0.51530	952	0.10565	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1507.98	58	chr4	102690717	.	C	G	1507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.821e+00;DP=1066;ExcessHet=0.0000;FS=3.630;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=1.68;SOR=0.424	GT:AD:DP:GQ:PL	0/1:51,65:116:99:1522,0,1280	20	0	1	0
chr4	105667692	105667692	G	C	exonic	ARHGEF38	.	nonsynonymous SNV	ARHGEF38:NM_001242729:exon13:c.G2137C:p.V713L,	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.001	B	0.001	B	.	.	1.000	N	0	N	0.62	T	-1.071	T	0.062	T	0.073	1.484	10.91	4.89	2.699	1.383	11.099	0.077	.	.	0.00359425	0.0002	0.0017	0	0	0	0	0.0054	0.0001	0.0002005	31	154602	rs143852501	0.0003	0.0002	0.0003	0.0002	0.0083	0.0002	0.0002	0.0075	0.0072	0.0083	0.0008	0	0	0	0.0011	2.781e-06	0.0009	0.0001	0.0021	0.0021	0.0021	0.0021	0.0074	0.0019	0.0018	0.0067	0.0064	0.0074	0	0.0005	0	0	0	0	0	0.0009	0	0.73	0.03811	T	0.737	0.05036	T	.	.	.	.	.	.	.	.	.	.	0.966394	0.25896	N	0	0.06538	N	0.62	0.53302	T	-0.72	0.20358	N	0.139	0.13769	-1.0714	0.09108	T	0.062	0.25708	T	9	0.0043308735	0.00088	T	.	.	.	0.077	0.22490	0.381	0.39807	0.117506650769	0.11410	0.13155079502523032	0.13080	0.0435161349197	0.04688	0.384368628263	0.22874	T	0.004008	0.03423	T	-0.620249	0.00110	T	-0.659296	0.08315	T	0.0055342682780892	0.00060	T	0.586341	0.21412	T	0.08279595	0.19091	0.10641788	0.25601	0.08279595	0.19091	0.10641788	0.25601	-3.201	0.12493	T	.	.	0.094	0.14568	B	.	.	2.000965	0.25425	16.76	0.95652076718299128	0.27468	0.58953	0.30782	D	AEFI	0.217637	0.34274	N	-0.480064563289934	0.22734	1.216048	-0.270255500592711	0.29083	1.626617	0.517411670111624	0.21068	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.73	4.89	0.63387	1.887000	0.39332	4.392000	0.43217	0.676000	0.76740	0.227000	0.24611	1.000000	0.68203	0.982000	0.59238	0.1425:0.0:0.8575:0.0	11.099	0.47380	855	0.34697	SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2064.98	41	chr4	105667692	.	G	C	2064.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.744;DP=933;ExcessHet=0.0000;FS=2.714;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=-3.180e-01;SOR=0.904	GT:AD:DP:GQ:PL	0/1:93,78:171:99:2079,0,2573	20	0	1	0
chr4	106367285	106367285	G	A	exonic	GIMD1	.	nonsynonymous SNV	GIMD1:NM_001195138:exon2:c.C151T:p.R51C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867045299	6.504e-06	7.525e-06	7.133e-06	5.858e-06	0.0002	3.06e-06	2.22e-06	1.048e-05	3.92e-06	6.33e-05	0	0	2.799e-05	0	0.0002	3.708e-06	1.727e-05	0	5.921e-05	5.911e-05	2.572e-05	9.428e-05	0.0002	3.081e-05	2.212e-05	0.0001	8.464e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74	0.80084	M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15334386	0.28947	T	.	.	.	.	.	.	.	.	.	0.3493486424638165	0.34848	.	.	0.326490879059	0.14404	T	0.017001	0.13947	T	.	.	.	.	.	.	.	.	.	0.842916	0.51943	T	0.14123097	0.32552	0.15933697	0.37165	0.14123097	0.32551	0.15933697	0.37164	-5.382	0.40746	T	.	.	0.110	0.21125	B	.;.	.;.	2.342580	0.30025	18.31	0.67559866290113502	0.08391	0.24441	0.22394	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999594950859971	0.40745	0.065574	0.01310	0	0.063388	0.01293	0	0.078125	0.02361	0	0.062806	0.01542	0	0.377919	0.37042	4.97	3.25	0.36363	0.573000	0.23401	3.738000	0.39641	0.676000	0.76740	0.117000	0.23121	1.000000	0.68203	0.504000	0.29107	0.1469:0.0:0.8531:0.0	11.383	0.49009	787	0.46738	AIG1-type guanine nucleotide-binding (G) domain|AIG1-type guanine nucleotide-binding (G) domain;AIG1-type guanine nucleotide-binding (G) domain|AIG1-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2038.98	39	chr4	106367285	.	G	A	2038.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=-3.760e-01;SOR=0.694	GT:AD:DP:GQ:PL	0/1:80,78:158:99:2053,0,1923	20	0	1	0
chr4	112278361	112278361	G	A	exonic	TIFA	.	nonsynonymous SNV	TIFA:NM_052864:exon2:c.C56T:p.T19M,	.	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.992	D	0.000	D	0.999	D	2.215	M	0.81	T	-0.671	T	0.145	T	0.356	4.121	21.2	5.92	2.822	3.253	20.334	0.211	.	0.0108	0.0113818	0.0032	0.0337	0.0019	0.0001	0	0.0003	0	0.0002	0.0030077	465	154602	rs6834237	0.0010	0.0010	0.0011	0.0009	0.0313	0.0009	0.0009	0.0297	0.0291	0.0313	0.0022	0	2.523e-05	0	0.0051	8.672e-05	0.0026	7.098e-05	0.0094	0.0094	0.0098	0.0090	0.0322	0.0090	0.0088	0.0307	0.0302	0.0322	0	0.0033	0	0.0002	0	0.0034	0.0003	0.0100	0.0002	0.011	0.55530	D	0.006	0.70582	D	1.0	0.90584	D	0.992	0.80445	D	0.000001	0.62929	D	0.097241	0.999431	0.47043	D	2.75	0.80375	M	0.81	0.48460	T	-3.21	0.64826	D	0.229	0.29889	-0.6714	0.61765	T	0.145	0.46786	T	10	0.0067516863	0.00153	T	.	.	.	0.211	0.50185	.	.	0.724680275035	0.72224	0.6335347604182903	0.63287	1.18544460508	0.80128	0.505062520504	0.39533	T	0.197802	0.55458	T	-0.400934	0.02283	T	-0.324316	0.42100	T	0.0295651626667107	0.01922	T	0.835117	0.50455	T	0.23997004	0.46894	0.1895631	0.42310	0.23997004	0.46894	0.1895631	0.42310	-5.982	0.46129	T	.	.	0.107	0.20235	B	.;.	.;.	4.601672	0.72891	25.9	0.99913413061629464	0.98238	0.89611	0.50186	D	AEFDGBCI	0.418177	0.48591	N	0.7543497403034	0.83187	7.952312	0.740233992652113	0.85425	8.57691	0.999999999573468	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	3.947000	0.56362	7.406000	0.58608	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	20.334	0.98733	939	0.14249	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	708.98	35	chr4	112278361	.	G	A	708.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.575;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=-2.790e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/1:39,30:69:99:723,0,965	20	0	1	0
chr4	112587447	112587447	T	G	exonic	ZGRF1	.	nonsynonymous SNV	ZGRF1:NM_001350397:exon11:c.A3436C:p.M1146L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.023	B	0.009	B	0.471	N	1.000	N	0.975	L	-1.59	D	-0.683	T	0.371	T	0.198	2.296	13.63	5.59	2.128	1.481	8.140	0.168	0.0342918704817	.	.	8.239e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs752061178	1.71e-05	1.71e-05	2.042e-05	1.375e-05	0.0004	1.174e-05	9.92e-06	0.0003	0.0002	0.0004	0	0	0	0	0.0003	0	0.0001	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.344e-05	4.825e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.092	0.39954	T	.	.	.	.	.	.	0.470601	0.12283	N	0.749331	1	0.08975	N	2.125	0.59049	M	-1.59	0.82076	D	-1.04	0.27259	N	0.299	0.33796	-0.6833	0.61220	T	0.371	0.73053	T	10	0.11739528	0.22170	T	0.034292	0.55573	D	0.168	0.42943	0.295	0.25881	0.432266382184	0.42845	0.055242146702664884	0.05465	0.0684681097478	0.07664	.	.	.	0.026508	0.19600	T	-0.101308	0.36209	T	-0.286444	0.46141	T	0.571868538856506	0.35306	D	0.576042	0.20701	T	0.3186381	0.54525	0.2687608	0.52748	0.3186381	0.54525	0.2687608	0.52747	-2.845	0.08605	T	.	.	0.146	0.44267	B	.;.	.;.	1.845379	0.23444	16.02	0.95690960615839915	0.27567	0.32660	0.24640	N	AEFDBI	0.078600	0.15862	N	-0.317052230803037	0.28500	1.572507	-0.17946046974295	0.32292	1.835767	0.781491384872651	0.23851	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.59	5.59	0.84677	1.484000	0.35116	0.340000	0.17371	0.609000	0.47794	0.548000	0.27330	0.046000	0.21717	0.979000	0.57723	0.1327:0.0:0.1386:0.7287	8.140	0.30236	866	0.32446	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1852.98	34	chr4	112587447	.	T	G	1852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.63;DP=862;ExcessHet=0.0000;FS=0.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=-1.336e+00;SOR=0.789	GT:AD:DP:GQ:PL	0/1:88,71:159:99:1867,0,2143	20	0	1	0
chr4	122934357	122934357	A	G	exonic	SPATA5	.	nonsynonymous SNV	SPATA5:NM_001317799:exon5:c.A763G:p.I255V	Epilepsy, hearing loss, and mental retardation syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	453718	not_provided|AFG2A-related_disorder|Microcephaly-intellectual_disability-sensorineural_hearing_loss-epilepsy-abnormal_muscle_tone_syndrome	MedGen:C3661900|.|MONDO:MONDO:0014698,MedGen:C4225276,OMIM:616577,Orphanet:457351	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.41	T	0.0	B	0.0	B	0.951	N	1.000	N	-1.1	N	-3.28	D	-0.604	T	0.358	T	0.035	-3.101	0.001	1.87	0.268	-0.043	7.706	0.137	0.0316436383778	0.0007	0.00219649	0.0003	0.0030	8.648e-05	0	0	0	0	6.057e-05	0.0003299	51	154602	rs143384152	8.893e-05	8.893e-05	0.0001	7.563e-05	0.0031	7.622e-05	7.167e-05	0.0026	0.0024	0.0031	0.0002	0	0	0	0	7.194e-06	9.934e-05	2.319e-05	0.0011	0.0011	0.0013	0.0009	0.0039	0.0009	0.0009	0.0034	0.0032	0.0039	0	6.537e-05	0	0	0	0	0	0.0009	0	0.767	0.03412	T	0.73	0.05165	T	0.0	0.02946	B	0.0	0.01387	B	0.950718	0.07654	N	1.021630	1	0.08975	N	.	.	.	-3.28	0.93691	D	0.1	0.05810	N	0.011	0.00110	-0.6040	0.64652	T	0.358	0.72069	T	10	0.0043099523	0.00087	T	0.031644	0.53678	D	0.137	0.36984	.	.	0.620522651735	0.61745	0.06366506222180272	0.06305	0.119119713132	0.13412	0.244962960482	0.03256	T	0.008203	0.07540	T	-0.490605	0.00645	T	-0.478653	0.24590	T	0.00650175021044853	0.00073	T	0.381762	0.09261	T	0.023030862	0.01009	0.025889365	0.00652	0.023030862	0.01009	0.025889365	0.00652	-2.775	0.07955	T	0.06560879939647159	0.02176	0.053	0.00269	B	.	.	-0.601015	0.01569	0.104	0.2268321421761462	0.00924	0.01251	0.04401	N	AEFGBHCI	0.014428	0.00229	N	-1.45218740047816	0.02199	0.09685469	-1.37650435715067	0.03504	0.1635765	0.999994438509772	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	4.58	1.87	0.24559	0.021000	0.13381	0.874000	0.22338	-0.756000	0.03544	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.3362:0.0:0.6638:0.0	7.706	0.27814	758	0.50837	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2167.98	34	chr4	122934357	.	A	G	2167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=853;ExcessHet=0.0000;FS=9.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=0.675;SOR=1.297	GT:AD:DP:GQ:PL	0/1:81,80:161:99:2182,0,2065	20	0	1	0
chr4	127704250	127704250	G	C	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon10:c.G1526C:p.R509T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.28	M	1.53	T	-0.710	T	0.210	T	0.865	4.782	26.9	5.14	2.672	9.131	18.401	0.586	0.028113303493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.057e-06	2.052e-06	0	4.136e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	1.53	0.30401	T	-4.06	0.74582	D	0.921	0.92433	-0.7100	0.59952	T	0.210	0.56933	T	10	0.910342	0.90399	D	0.028113	0.50841	D	0.586	0.83416	0.685	0.82271	0.675445021942	0.67269	0.7804156638025578	0.77992	0.662293056713	0.58963	0.714659333229	0.69269	T	0.849206	0.96552	D	0.208191	0.74660	D	0.0612757	0.74330	D	0.997202515602112	0.91010	D	0.935406	0.75832	D	0.54776746	0.69831	0.38335246	0.63301	0.54776746	0.69832	0.38335246	0.63301	-13.879	0.92657	D	0.7325577997116286	0.81429	0.848	0.79668	P	.	.	4.810719	0.78262	26.9	0.98569775045103225	0.43089	0.99344	0.94786	D	AEFI	0.872518	0.79441	D	0.873817251556548	0.90420	10.396	0.84368298210705	0.92643	11.54514	0.999999617710239	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.14	5.14	0.70008	9.249000	0.94640	11.731000	0.94998	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.401	0.90461	897	0.25382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	208.91	41	chr4	127704250	.	G	C	208.91	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.952e+00;DP=972;ExcessHet=0.6776;FS=194.263;InbreedingCoeff=-0.1052;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=0.184;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,13:60:44:0|1:127704250_G_C:44,0,1237:127704250	17	0	4	0
chr4	127704251	127704251	G	C	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon10:c.G1527C:p.R509S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.28	M	1.53	T	-0.921	T	0.161	T	0.943	3.733	18.96	1.26	-0.003	2.018	9.093	0.422	0.0294672289301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.861e-07	6.84e-07	0	1.38e-06	2.522e-05	0	0	.	.	0	0	0	2.522e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.74	0.80084	M	1.53	0.30401	T	-3.69	0.70432	D	0.946	0.95374	-0.9212	0.45390	T	0.161	0.49581	T	10	0.8873946	0.88071	D	0.029467	0.51971	D	0.422	0.73078	0.632	0.76810	0.600287769981	0.59710	0.7881439270302629	0.78766	0.561931678665	0.52692	0.684287190437	0.64885	T	0.802902	0.94994	D	0.206707	0.74521	D	0.0591445	0.74188	D	0.99298083782196	0.83620	D	0.931307	0.74459	D	0.6339207	0.74507	0.4426484	0.67508	0.6339207	0.74508	0.4426484	0.67508	-12.454	0.86992	D	0.7346386116156443	0.81645	0.919	0.84130	P	.	.	3.328126	0.45808	22.2	0.99730259453219516	0.82690	0.92757	0.56471	D	AEFI	0.467728	0.51483	N	0.374202189461738	0.60026	4.18743	0.274963314411494	0.54081	3.574282	3.07637346592026E-5	0.03498	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.14	1.26	0.20534	2.073000	0.41144	2.000000	0.30117	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.553:0.0:0.447:0.0	9.093	0.35784	897	0.25382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.125	374.38	39	chr4	127704251	.	G	C	374.38	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.953e+00;DP=1018;ExcessHet=1.1607;FS=220.307;InbreedingCoeff=-0.1538;MLEAC=5;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.794;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,13:60:44:0|1:127704250_G_C:44,0,1237:127704250	15	0	5	1
chr4	139730437	139730439	CTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2310del:p.Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/1:0,96,0:96:99:4260,289,0,4260,289,4260	0	20	0	0
chr4	139730431	139730439	CTGCTGCTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2316del:p.Q770_Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0003	0	0	1.94e-05	3	154602	rs760330670	0.0001	0.0002	0.0001	0.0001	0.0001	9.839e-05	9.263e-05	0.0001	0.0001	0.0001	0	0	0	0	0	0.0001	5.542e-05	4.047e-05	0.0001	0.0001	0.0002	0.0001	0.0002	9.181e-05	7.731e-05	0.0001	0.0001	0.0001	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/1:0,96,0:96:99:4260,289,0,4260,289,4260	0	20	0	0
chr4	139889919	139889924	TGCTGC	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon2:c.1512_1517del:p.Q509_Q510del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10519.75	95	chr4	139889909	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	10519.75	.	AC=3,2,3,1;AF=0.071,0.048,0.071,0.024;AN=42;BaseQRankSum=-8.600e-02;DP=2737;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=3,2,3,1;MLEAF=0.071,0.048,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.23;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:68,3,0,49,0:120:99:.:.:1433,1536,4373,1651,4327,4424,0,2617,2727,2566,1651,4327,4424,2727,4424	12	0	3	0
chr4	139889910	139889924	TGCTGCTGCTGCTGC	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon2:c.1512_1526del:p.Q506_Q510del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369025793	0.0004	0.0005	0.0004	0.0004	0.0082	0.0004	0.0004	0.0063	0.0057	0.0029	0.0007	3.924e-05	0.0003	1.908e-05	0.0082	0.0003	0.0008	0.0002	0.0029	0.0029	0.0033	0.0025	0.0035	0.0025	0.0024	0.0025	0.0023	0.0029	0	0.0022	0	0.0026	0	0.0233	0.0035	0.0093	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10519.75	95	chr4	139889909	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	10519.75	.	AC=3,2,3,1;AF=0.071,0.048,0.071,0.024;AN=42;BaseQRankSum=-8.600e-02;DP=2737;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=3,2,3,1;MLEAF=0.071,0.048,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.23;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:68,3,0,49,0:120:99:.:.:1433,1536,4373,1651,4327,4424,0,2617,2727,2566,1651,4327,4424,2727,4424	12	0	3	0
chr4	139889922	139889924	TGC	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon2:c.1512_1514del:p.Q510del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10519.75	95	chr4	139889909	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	10519.75	.	AC=3,2,3,1;AF=0.071,0.048,0.071,0.024;AN=42;BaseQRankSum=-8.600e-02;DP=2737;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=3,2,3,1;MLEAF=0.071,0.048,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.23;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:68,3,0,49,0:120:99:.:.:1433,1536,4373,1651,4327,4424,0,2617,2727,2566,1651,4327,4424,2727,4424	12	0	3	0
chr4	139889924	139889924	-	TGC	exonic	MAML3	.	nonframeshift insertion	MAML3:NM_018717:exon2:c.1511_1512insGCA:p.Q510_H511insQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10519.75	95	chr4	139889909	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	10519.75	.	AC=3,2,3,1;AF=0.071,0.048,0.071,0.024;AN=42;BaseQRankSum=-8.600e-02;DP=2737;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=3,2,3,1;MLEAF=0.071,0.048,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.23;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:68,3,0,49,0:120:99:.:.:1433,1536,4373,1651,4327,4424,0,2617,2727,2566,1651,4327,4424,2727,4424	12	0	3	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.949	P	0.761	P	0.009	N	1.000	N	2.97	M	-1.23	T	-0.477	T	0.493	T	0.582	1.307	10.28	0.338	-0.014	1.889	3.693	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	8657.43	102	chr4	140563137	.	C	G	8657.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.013e+00;DP=2157;ExcessHet=43.6797;FS=230.561;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=4.52;ReadPosRankSum=-6.060e-01;SOR=13.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,50:130:99:0|1:140563137_C_G:631,0,2283:140563137	1	0	20	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.004	B	0.007	B	0.003	N	1.000	N	0.365	N	-1.27	T	-1.011	T	0.158	T	0.095	-1.272	0.044	-1.38	-0.574	-0.505	2.216	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	8407.43	102	chr4	140563138	.	C	G	8407.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.724e+00;DP=2172;ExcessHet=43.6797;FS=230.605;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=4.60;ReadPosRankSum=-5.480e-01;SOR=12.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,50:130:99:0|1:140563137_C_G:631,0,2283:140563137	1	0	20	0
chr4	143697457	143697457	G	0	exonic	FREM3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	94707.57	120	chr4	143697457	.	G	C,*	94707.57	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2969;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;QD=32.86;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,163,0:163:99:.:.:5369,489,0,5369,489,5369	0	20	0	0
chr4	146639314	146639314	-	GGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGC:p.G68_R69insG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772231658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/3:0,28,0,38,0:66:99:2654,1581,1497,2682,1590,2763,1105,0,1201,1165,2682,1590,2763,1201,2763	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGCGGC:p.G68_R69insGGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/3:0,28,0,38,0:66:99:2654,1581,1497,2682,1590,2763,1105,0,1201,1165,2682,1590,2763,1201,2763	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGC:p.G68_R69insGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/3:0,28,0,38,0:66:99:2654,1581,1497,2682,1590,2763,1105,0,1201,1165,2682,1590,2763,1201,2763	0	10	4	0
chr4	157170619	157170619	C	T	exonic	GLRB	.	nonsynonymous SNV	GLRB:NM_000824:exon10:c.C1385T:p.A462V	Hyperekplexia 2, autosomal recessive	.	1	1517	3	0	1	4	0.000987817	.	.	292647	GLRB-related_disorder|Hyperekplexia_2	.|MONDO:MONDO:0013828,MedGen:C3553291,OMIM:614619,Orphanet:3197	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.25	T	0.107	B	0.075	B	0.000	D	1.000	D	0	N	-1.67	D	-0.595	T	0.339	T	0.253	3.181	16.65	5.8	2.740	7.818	20.043	0.391	0.0517827576685	.	0.000798722	0.0013	0	0.0003	0	0	3.001e-05	0	0.0090	0.0010349	160	154602	rs148031091	0.0006	0.0006	0.0003	0.0009	0.0097	0.0006	0.0006	0.0092	0.0090	2.992e-05	0.0001	0	0	1.872e-05	0.0002	1.26e-05	0.0008	0.0097	0.0002	0.0002	7.714e-05	0.0003	0.0064	0.0002	0.0001	0.0047	0.0040	2.407e-05	0	0	0	0	0	0	0	0	0.0064	0.262	0.16466	T	0.341	0.17964	T	0.107	0.26081	B	0.075	0.28327	B	0.000001	0.84330	D	0.097855	0.999978	0.81001	D	0.775	0.19437	N	-1.67	0.82806	D	0.44	0.03243	N	0.109	0.30118	-0.5952	0.65012	T	0.339	0.70559	T	10	0.008450478	0.00192	T	0.051783	0.64804	D	0.391	0.70684	0.457	0.52265	0.813012797388	0.81126	0.40569893053870937	0.40485	0.208181691083	0.23289	0.635487914085	0.57923	T	0.25951	0.63079	T	-0.318262	0.07040	T	-0.222262	0.52518	T	0.0243163255904742	0.01184	T	0.966703	0.87848	D	0.11641875	0.27458	0.17332523	0.39651	0.1315157	0.30653	0.14442214	0.34288	-3.201	0.12493	T	0.13733096572369805	0.15100	0.079	0.07083	B	.;.	.;.	3.761770	0.53977	23.4	0.99355867477352877	0.60779	0.98436	0.82758	D	AEFDIJ	0.912298	0.87273	D	0.0395249090428382	0.43663	2.654757	0.272902987272577	0.53962	3.562871	0.999999999997718	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.8	5.8	0.92081	7.905000	0.86479	7.647000	0.63496	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:1.0:0.0:0.0	20.043	0.97600	955	0.09969	Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1550.98	33	chr4	157170619	.	C	T	1550.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.413;DP=820;ExcessHet=0.0000;FS=0.657;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=-4.300e-02;SOR=0.773	GT:AD:DP:GQ:PL	0/1:61,66:127:99:1565,0,1353	20	0	1	0
chr4	176126922	176126922	C	G	exonic	WDR17	.	stopgain	WDR17:NM_001350727:exon6:c.C807G:p.Y269X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.0015752	41	26028	rs558795637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	0.0042	0.0042	0.0042	0.0132	0.0040	0.0038	0.0123	0.0120	0.0132	0	0.0031	0.0006	0	0.0005	0.0170	0.0003	0.0061	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	142.79	3	chr4	176126922	.	C	G	142.79	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=79;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0829;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=28.56;ReadPosRankSum=-5.240e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:1,4:5:26:155,0,26	18	0	1	2
chr4	186083613	186083613	C	A	exonic	TLR3	.	nonsynonymous SNV	TLR3:NM_003265:exon4:c.C1927A:p.R643S,	.	.	0	1515	6	1	0	8	0.00263331	.	.	453492	Herpes_simplex_encephalitis,_susceptibility_to,_1	MONDO:MONDO:0024563,MedGen:C2750180,OMIM:610551,Orphanet:1930	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.68	T	0.011	B	0.015	B	0.095	N	0.998	N	-1.185	N	2.06	T	-0.939	T	0.002	T	0.041	-0.134	3.345	-12.1	-2.494	0.034	24.883	0.089	.	0.0095	0.0117812	0.0030	0.0333	0.0009	0	0	0.0002	0.0011	0.0001	0.0028848	446	154602	rs73025939	0.0010	0.0010	0.0011	0.0009	0.0336	0.0010	0.0009	0.0320	0.0313	0.0336	0.0018	0.0015	2.524e-05	0	0.0023	4.059e-05	0.0029	9.476e-05	0.0096	0.0096	0.0100	0.0091	0.0335	0.0092	0.0090	0.0321	0.0315	0.0335	0	0.0027	0.0017	0	0	0	0.0001	0.0028	0.0004	0.489	0.09209	T	0.545	0.09588	T	0.011	0.15914	B	0.015	0.17295	B	0.095024	0.20143	N	0.604731	0.998752	0.22230	N	-0.775	0.01662	N	2.06	0.20523	T	0.31	0.04022	N	0.072	0.04547	-0.9388	0.42806	T	0.002	0.00615	T	10	0.00221923	0.00032	T	.	.	.	0.089	0.25827	.	.	0.258779203287	0.25495	0.44212070019761157	0.44129	0.152145718627	0.17166	0.285702139139	0.08299	T	0.039018	0.25043	T	-0.717872	0.00028	T	-0.778882	0.02487	T	0.00361463509861913	0.00038	T	0.877212	0.59013	D	0.2215778	0.44738	0.17228302	0.39472	0.28676358	0.51690	0.11280833	0.27221	-2.928	0.09426	T	.	.	0.141	0.30817	B	.;.	.;.	-1.328160	0.00415	0.008	0.4835942687860289	0.04029	0.31804	0.24429	N	AEFDBI	.	.	.	-1.707113192441	0.00817	0.03531506	-1.69041041148899	0.01180	0.05311539	0.999897812532885	0.45129	0.615465	0.37627	0	0.59043	0.45803	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	6.03	-12.1	0.00008	0.050000	0.14004	-3.496000	0.02742	-0.233000	0.07663	0.771000	0.29368	0.000000	0.08366	0.205000	0.22041	0.0871:0.8404:0.0725:0.0	24.883	0.99992	648	0.63242	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3425.98	77	chr4	186083613	.	C	A	3425.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.86;DP=1680;ExcessHet=0.0000;FS=4.715;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=-5.980e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/1:151,129:280:99:3440,0,3814	20	0	1	0
chr4	186628247	186628247	C	G	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon9:c.G4717C:p.E1573Q,	.	.	.	.	.	.	.	.	.	.	.	709292	not_provided|FAT1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.999	D	0.000	D	1.000	D	3.465	M	-0.98	T	0.378	D	0.615	D	0.826	3.611	18.38	5.49	2.865	7.651	19.576	0.554	0.0347001670828	0.0021	0.00139776	0.0006	0.0072	0.0004	0	0	0	0.0011	6.261e-05	0.0005692	88	154602	rs138797966	0.0002	0.0002	0.0002	0.0001	0.0061	0.0002	0.0002	0.0054	0.0052	0.0061	0.0005	0	0	0	0.0003	4.497e-06	0.0008	8.118e-05	0.0018	0.0018	0.0015	0.0020	0.0059	0.0016	0.0015	0.0053	0.0051	0.0059	0	0.0008	0	0	0	0	1.47e-05	0.0028	0.0002	0.054	0.38633	T	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.435	0.92070	M	-0.98	0.75789	T	-2.38	0.52451	N	0.953	0.96187	0.378	0.88766	D	0.615	0.86401	D	10	0.025452375	0.00739	T	0.035	0.55851	D	0.554	0.81601	.	.	0.79768132952	0.79579	0.6574459583983108	0.65681	0.500835448666	0.48483	0.656650841236	0.60930	T	0.405744	0.76184	T	-0.0358607	0.46561	T	0.178324	0.81900	D	0.123471878412756	0.14766	T	0.970803	0.89535	D	0.47953004	0.65872	0.25412813	0.51072	0.47953004	0.65872	0.25412813	0.51071	-7.131	0.54984	T	.	.	0.368	0.57714	A	.;.	.;.	3.949705	0.57854	23.9	0.99733668833449707	0.82975	0.99219	0.92988	D	AEFDBI	0.931713	0.92095	D	0.752541029791365	0.83069	7.922056	0.603455757739156	0.75190	6.267006	1.0	0.98316	0.719381	0.83141	0	0.573888	0.26702	0	0.723133	0.82415	0	0.668105	0.65232	0	.	.	5.49	5.49	0.81022	7.905000	0.86479	7.699000	0.66186	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.018000	0.11154	0.0:1.0:0.0:0.0	19.576	0.95436	913	0.21160	Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1718.98	34	chr4	186628247	.	C	G	1718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.185e+00;DP=860;ExcessHet=0.0000;FS=4.597;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=-5.020e-01;SOR=0.745	GT:AD:DP:GQ:PL	0/1:89,74:163:99:1733,0,2430	20	0	1	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G,	.	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.047	B	0.081	B	0.000	D	1.000	D	0.485	N	2.6	T	-1.080	T	0.058	T	0.714	-0.181	3.117	4.19	1.677	5.001	11.575	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	2047.95	100	chr4	189957425	.	A	G	2047.95	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-4.170e-01;DP=2475;ExcessHet=4.7172;FS=2.456;InbreedingCoeff=-0.2675;MLEAC=9;MLEAF=0.214;MQ=47.50;MQRankSum=-1.662e+00;QD=1.66;ReadPosRankSum=-7.240e-01;SOR=0.943	GT:AD:DP:GQ:PL	0/1:97,20:117:99:161,0,2708	12	0	9	0
chr5	38933380	38933380	C	G	exonic	OSMR	.	nonsynonymous SNV	OSMR:NM_001323505:exon18:c.C2876G:p.P959R	Amyloidosis, primary localized cutaneous, 1, Autosomal dominant	.	1	1361	149	11	0	171	0.0591082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.845	P	0.467	P	0.397	N	1.000	N	1.355	L	1.06	T	-1.018	T	0.066	T	0.191	1.719	11.71	2.64	0.790	0.641	8.229	0.053	.	0.0052	0.00838658	0.0113	0.0013	0.0119	0.0001	0.0029	0.0081	0.0198	0.0388	0.0100775	1558	154602	rs34080825	0.0081	0.0081	0.0068	0.0095	0.0468	0.0080	0.0079	0.0422	0.0404	0.0009	0.0093	0.0258	0.0001	0.0022	0.0468	0.0056	0.0099	0.0408	0.0065	0.0065	0.0060	0.0071	0.0330	0.0062	0.0060	0.0289	0.0273	0.0011	0	0.0092	0.0248	0.0004	0.0040	0.0646	0.0070	0.0095	0.0330	0.061	0.37118	T	0.099	0.38891	T	0.845	0.46707	P	0.467	0.46683	P	0.396557	0.04509	N	1.368040	1	0.08975	N	1.78	0.46185	L	1.06	0.39781	T	-1.96	0.45404	N	0.081	0.05670	-1.0181	0.24334	T	0.066	0.27052	T	10	0.0029414892	0.00047	T	.	.	.	0.053	0.14996	.	.	.	.	0.14100321930981063	0.14023	0.237616639877	0.26298	0.225426003337	0.01647	T	0.135175	0.46684	T	-0.569761	0.00222	T	-0.56263	0.16131	T	0.0126930513815079	0.00213	T	0.326967	0.06756	T	0.039785415	0.05556	0.073263034	0.15901	0.035993196	0.04343	0.073263034	0.15901	-4.86	0.35282	T	.	.	0.086	0.10835	B	.	.	1.366445	0.17758	13.35	0.93641793816937802	0.23520	0.23376	0.22056	N	AEFDGBI	0.077479	0.15610	N	-0.35203401344841	0.27197	1.490269	-0.476864511363895	0.22792	1.23975	0.99880471190545	0.37711	0.614807	0.35715	0	0.588015	0.36545	0	0.616094	0.41390	0	0.636168	0.56350	0	.	.	5.79	2.64	0.30504	0.371000	0.20182	0.714000	0.20960	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.7212:0.0:0.2788	8.229	0.30746	261	0.89765	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3718.11	37	chr5	38933380	.	C	G	3718.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.91;DP=1014;ExcessHet=0.1072;FS=8.925;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=0.934;SOR=1.091	GT:AD:DP:GQ:PL	0/1:109,80:189:99:1830,0,2942	19	0	2	0
chr5	39137703	39137703	C	T	exonic	FYB1	.	nonsynonymous SNV	FYB1:NM_001243093:exon7:c.G1442A:p.R481K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.002	B	0.569	N	0.999	N	-0.35	N	2.04	T	-0.991	T	0.019	T	0.146	-0.296	2.589	1.6	0.345	-0.047	3.635	0.068	0.00275266817484	.	.	4.463e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs766761379	1.43e-06	1.368e-06	1.411e-06	1.45e-06	1.263e-05	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.275e-07	0	1.263e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.769	0.03461	T	1.0	0.01155	T	0.002	0.09854	B	0.002	0.06944	B	0.569083	0.05469	N	1.259700	0.998619	0.22036	N	.	.	.	2.04	0.20959	T	-0.23	0.10656	N	0.088	0.07673	-0.9910	0.32347	T	0.019	0.07893	T	10	0.0471552	0.03996	T	0.002753	0.05694	T	0.068	0.19811	0.258	0.20002	0.311241185304	0.30733	0.05872010408258015	0.05813	.	.	0.535842180252	0.43858	T	0.058628	0.30895	T	-0.429087	0.01501	T	-0.65053	0.08916	T	0.0374807879448838	0.03241	T	0.542646	0.19087	T	0.04413321	0.07000	0.044969063	0.05946	0.04413321	0.07000	0.044969063	0.05946	-5.938	0.47582	T	.	.	0.064	0.03060	B	.;.;.;.;.	.;.;.;.;.	1.028947	0.14089	10.66	0.83054023485450235	0.14517	0.38721	0.26052	N	AEFGBHCI	0.089390	0.18119	N	-0.744784833827351	0.14776	0.7389013	-0.548859816720632	0.20836	1.124436	0.999999858809718	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	4.48	1.6	0.22686	-0.043000	0.11996	0.783000	0.21499	-0.190000	0.09434	0.977000	0.34929	0.999000	0.35428	0.955000	0.50612	0.1916:0.5933:0.0:0.2151	3.635	0.07684	651	0.62880	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	516.98	33	chr5	39137703	.	C	T	516.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=720;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=0.159;SOR=0.709	GT:AD:DP:GQ:PL	0/1:24,19:43:99:531,0,637	20	0	1	0
chr5	51387699	51387699	C	G	exonic	ISL1	.	nonsynonymous SNV	ISL1:NM_002202:exon3:c.C428G:p.A143G,	.	.	.	.	.	.	.	.	.	.	.	2801872	ISL1-related_disorder	.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.44	T	0.0	B	0.0	B	0.000	D	1.000	D	0.755	N	-1.96	D	-0.488	T	0.403	T	0.169	1.687	11.60	5.41	2.538	2.292	15.508	0.262	0.614569166519	.	.	4.177e-05	0	0	0	0	6.057e-05	0.0011	0	3.23e-05	5	154602	rs747357265	2.873e-05	2.873e-05	2.995e-05	2.75e-05	0.0003	2.151e-05	1.908e-05	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	3.147e-05	3.311e-05	3.478e-05	1.971e-05	1.97e-05	2.568e-05	1.345e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.564	0.06302	T	0.359	0.18732	T	0.0	0.02946	B	0.0	0.01387	B	0.000287	0.46274	D	0.186234	0.999999	0.58761	D	0.83	0.20963	L	-2.04	0.85703	D	-0.51	0.15986	N	0.245	0.27673	-0.4882	0.69072	T	0.403	0.75338	T	10	0.14318481	0.27187	T	0.614569	0.96645	D	0.262	0.57482	0.212	0.13066	0.562687124444	0.55931	0.24523045041225383	0.24437	1.05468595629	0.76285	0.638096928596	0.58293	T	0.260843	0.63226	T	-0.133366	0.30951	T	-0.321691	0.42388	T	0.138291791081429	0.16127	T	0.790621	0.43132	T	0.12577151	0.29475	0.12665023	0.30500	0.12577151	0.29475	0.12665023	0.30499	-3.406	0.15137	T	.	.	0.065	0.03661	B	.;.	.;.	3.123028	0.42171	21.5	0.9882982172539968	0.46936	0.63499	0.32108	D	AEFDBHCI	0.568979	0.57394	D	-0.45968606404068	0.23414	1.257126	-0.323995367597214	0.27325	1.515489	0.999999999991197	0.74766	0.582742	0.33608	0	0.563428	0.19063	0	0.606814	0.37721	0	0.620976	0.48614	0	.	.	5.41	5.41	0.78313	2.335000	0.43588	5.938000	0.51432	0.596000	0.33519	0.152000	0.23684	1.000000	0.68203	0.910000	0.44547	0.0:0.8612:0.1388:0.0	15.508	0.75487	869	0.31655	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1495.98	36	chr5	51387699	.	C	G	1495.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.812e+00;DP=832;ExcessHet=0.0000;FS=0.715;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=-1.692e+00;SOR=0.568	GT:AD:DP:GQ:PL	0/1:75,56:131:99:1510,0,2204	20	0	1	0
chr5	58494958	58494958	C	T	exonic	GAPT	.	nonsynonymous SNV	GAPT:NM_001304428:exon3:c.C422T:p.P141L	.	.	438	1078	6	0	0	6	0.00277521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.002	B	0.002	B	0.851	N	1.000	N	0.205	N	0.81	T	-1.038	T	0.076	T	0.104	1.025	9.186	3.12	1.422	0.928	6.975	0.053	0.00742575108528	0.0002	0.00119808	0.0007	0.0001	0.0002	0	0	0.0003	0	0.0040	0.000608	94	154602	rs200092019	0.0003	0.0003	0.0002	0.0005	0.0040	0.0003	0.0003	0.0036	0.0035	0	8.962e-05	7.659e-05	0	1.874e-05	0.0014	9.537e-05	0.0005	0.0040	0.0003	0.0003	0.0002	0.0004	0.0062	0.0002	0.0002	0.0045	0.0039	7.217e-05	0	0.0001	0	0	0	0.0068	8.821e-05	0	0.0062	0.08	0.33585	T	0.506	0.10967	T	0.002	0.09854	B	0.002	0.06944	B	0.850726	0.07056	N	1.077450	1	0.08975	N	0.695	0.17993	N	0.81	0.48460	T	-2.14	0.48523	N	0.061	0.03283	-1.0378	0.17985	T	0.076	0.30645	T	10	0.0045828223	0.00095	T	0.007426	0.19712	T	0.053	0.14996	.	.	0.206339911435	0.20273	0.2781400967547373	0.27727	0.0958417209937	0.10824	0.238232418895	0.02633	T	0.310203	0.68218	T	-0.562202	0.00246	T	-0.580622	0.14489	T	0.0402623104373249	0.03738	T	0.529047	0.17505	T	0.028856806	0.02288	0.092804134	0.21889	0.028856806	0.02288	0.092804134	0.21889	-4.05	0.24549	T	.	.	0.075	0.05360	B	.;.	.;.	1.442737	0.18626	13.84	0.4469265153498222	0.03454	0.04690	0.10375	N	AEFI	0.085813	0.17397	N	-0.759187203078711	0.14385	0.7161214	-0.718531018671027	0.16499	0.8731216	0.999919371370916	0.45857	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.91	3.12	0.34986	0.436000	0.21244	0.284000	0.16799	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.607000	0.31564	0.0:0.7999:0.0:0.2001	6.975	0.23848	911	0.21964	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1256.98	37	chr5	58494958	.	C	T	1256.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.90;DP=841;ExcessHet=0.0000;FS=8.361;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=-4.900e-01;SOR=1.477	GT:AD:DP:GQ:PL	0/1:59,44:103:99:1271,0,1473	20	0	1	0
chr5	64844923	64844923	G	T	exonic	CWC27	.	nonsynonymous SNV	CWC27:NM_001318000:exon11:c.G939T:p.R313S,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0003	0	0	0	0	0	0	0.0005	3.88e-05	6	154602	rs573527906	0.0003	0.0001	0.0002	0.0003	0.0079	0.0002	0.0002	0.0054	0.0045	0.0003	0	0	0	0	0.0079	0.0002	0.0005	0.0005	5.253e-05	5.249e-05	6.425e-05	4.029e-05	0.0004	2.556e-05	1.829e-05	7.301e-05	3.033e-05	0	0	6.534e-05	0	0	0	0	7.351e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1634.98	35	chr5	64844923	.	G	T	1634.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.060e-01;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=-5.500e-02;SOR=0.686	GT:AD:DP:GQ:PL	0/1:62,70:132:99:1649,0,1420	20	0	1	0
chr5	66026326	66026326	G	A	exonic	ERBIN	.	nonsynonymous SNV	ERBIN:NM_001006600:exon13:c.G1045A:p.V349M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	0.64	N	2.29	T	-0.559	T	0.238	T	0.762	4.661	25.7	4.93	2.439	9.416	18.511	0.299	0.0733017270381	.	.	8.313e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs754950916	5.556e-06	7.525e-06	0	1.117e-05	4.848e-05	2.39e-06	1.73e-06	1.632e-05	9.63e-06	0	0	0	2.631e-05	0	0	0	5.054e-05	4.848e-05	6.584e-06	6.568e-06	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.015	0.53172	D	0.098	0.44302	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.35	0.58029	T	-2.1	0.50992	N	0.693	0.71765	-0.5595	0.66423	T	0.238	0.60571	T	10	0.5153347	0.62333	D	0.073302	0.71754	D	0.299	0.61955	0.384	0.40298	0.4147015802	0.41088	0.4493127055722811	0.44849	0.407681458203	0.41620	0.813025355339	0.83956	D	0.152374	0.49274	T	0.162581	0.70439	D	-0.00423952	0.70060	D	0.858928620815277	0.50954	D	0.939806	0.77272	D	0.3365851	0.56006	0.2890347	0.54922	0.3365851	0.56006	0.2890347	0.54921	-12.706	0.88346	D	.	.	0.900	0.87171	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.926838	0.81191	27.5	0.9987823086043971	0.95491	0.99734	0.99061	D	AEFBI	0.902895	0.85133	D	0.691990219915548	0.79108	7.008542	0.71850012813678	0.83786	8.11346	0.999999999943026	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.93	4.93	0.64394	9.597000	0.97445	11.786000	0.96242	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.511	0.90866	869	0.31655	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	708.98	34	chr5	66026326	.	G	A	708.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.593e+00;DP=765;ExcessHet=0.0000;FS=1.957;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=0.782;SOR=0.465	GT:AD:DP:GQ:PL	0/1:43,32:75:99:723,0,1134	20	0	1	0
chr5	80654889	80654898	TGCAGCGGCC	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	2303.18	64	chr5	80654889	.	TGCAGCGGCC	T,*,CGCAGCGGCC	2303.18	.	AC=1,15,1;AF=0.024,0.357,0.024;AN=42;BaseQRankSum=0.767;DP=1593;ExcessHet=2.4516;FS=3.537;InbreedingCoeff=-0.0871;MLEAC=1,15,1;MLEAF=0.024,0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=2.07;ReadPosRankSum=0.503;SOR=0.970	GT:AD:DP:GQ:PL	2/2:0,0,113,0:113:99:4760,4760,4760,342,342,0,4760,4760,342,4760	7	0	1	0
chr5	96785792	96785792	C	T	exonic	ERAP1	.	nonsynonymous SNV	ERAP1:NM_001040458:exon13:c.G1939A:p.V647I	.	.	427	1045	47	3	0	53	0.0247317	.	.	2827895	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.994	D	0.973	D	0.000	D	1.000	D	2.62	M	3.32	T	-1.138	T	0.076	T	0.369	4.315	22.6	5.77	2.724	7.372	19.593	0.276	.	0.0018	0.00159744	0.0034	0.0007	0.0029	0	0.0002	0.0020	0.0078	0.0137	0.0030724	475	154602	rs111363347	0.0026	0.0026	0.0022	0.0030	0.0243	0.0026	0.0025	0.0210	0.0198	0.0004	0.0020	0.0022	7.558e-05	0.0001	0.0243	0.0018	0.0033	0.0149	0.0016	0.0016	0.0016	0.0017	0.0101	0.0015	0.0014	0.0079	0.0071	0.0002	0	0.0027	0.0014	0.0002	0	0.0204	0.0018	0.0057	0.0101	0.034	0.44029	D	0.028	0.54934	D	0.993	0.66517	D	0.955	0.72923	D	0.000200	0.48115	D	0.179513	0.999999	0.58761	D	2.885	0.83555	M	3.32	0.06214	T	-0.75	0.21003	N	0.322	0.36359	-1.1379	0.01439	T	0.076	0.30429	T	10	0.0092540085	0.00209	T	.	.	.	0.276	0.59253	.	.	0.416956310301	0.41315	0.6255793439771128	0.62490	0.348272605842	0.36702	0.387608021498	0.23332	T	0.061309	0.31620	T	-0.423924	0.01615	T	-0.370037	0.36884	T	0.0450658334183876	0.04613	T	0.975602	0.91418	D	0.5307451	0.68873	0.57157373	0.75189	0.5307451	0.68874	0.57157373	0.75190	-8.234	0.62654	D	.	.	0.173	0.40376	B	.;.	.;.	4.297696	0.65597	24.9	0.99856502613431009	0.93548	0.95510	0.65007	D	AEFGBCI	0.785201	0.71565	D	0.744243113532959	0.82529	7.785265	0.682845202672003	0.81076	7.443103	0.999999999999986	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.77	5.77	0.91077	7.537000	0.80946	7.718000	0.67175	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.512000	0.29290	0.0:1.0:0.0:0.0	19.593	0.95520	893	0.26510	.;ERAP1-like C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4044.11	34	chr5	96785792	.	C	T	4044.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.982;DP=1071;ExcessHet=0.1072;FS=1.458;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=-2.070e-01;SOR=0.601	GT:AD:DP:GQ:PL	0/1:76,82:158:99:2088,0,1826	19	0	2	0
chr5	98869828	98869828	T	C	exonic	CHD1	.	nonsynonymous SNV	CHD1:NM_001270:exon30:c.A4033G:p.I1345V	.	.	445	1063	11	3	0	17	0.0079328	.	.	699223	not_provided|Pilarowski-Bjornsson_syndrome	MedGen:C3661900|MONDO:MONDO:0060568,MedGen:C4540131,OMIM:617682,Orphanet:529965	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.0	B	0.754	N	0.998	N	-0.55	N	-2.47	D	-0.771	T	0.315	T	0.056	0.869	8.522	-0.126	0.085	0.144	5.477	0.173	.	0.0013	0.00259585	0.0024	0.0002	0.0006	0	0	0.0020	0	0.0088	0.0020569	318	154602	rs139215644	0.0018	0.0018	0.0016	0.0021	0.0108	0.0018	0.0017	0.0102	0.0100	0.0002	0.0009	0.0098	0	3.745e-05	0.0032	0.0012	0.0018	0.0108	0.0013	0.0013	0.0010	0.0015	0.0101	0.0011	0.0011	0.0079	0.0071	0.0002	0	0.0016	0.0095	0	9.42e-05	0.0034	0.0011	0.0014	0.0101	0.33	0.13131	T	0.399	0.15059	T	0.0	0.02946	B	0.0	0.01387	B	0.753602	0.09680	N	0.824068	0.997952	0.22426	N	-0.55	0.02420	N	-2.47	0.88997	D	0.4	0.03463	N	0.047	0.02964	-0.7709	0.56809	T	0.315	0.68504	T	10	0.0034848154	0.00062	T	.	.	.	0.173	0.43840	.	.	0.386522206555	0.38262	0.14373672833767392	0.14296	0.762688147093	0.64348	0.317008852959	0.12968	T	0.035593	0.23777	T	-0.493179	0.00624	T	-0.473232	0.25170	T	0.000143662760689481	0.00001	T	0.659134	0.26825	T	0.017642992	0.00290	0.023132065	0.00329	0.021451646	0.00748	0.025102632	0.00544	-2.895	0.09094	T	.	.	0.055	0.00368	B	.;.	.;.	0.397388	0.07687	4.361	0.71651714414901213	0.09702	0.23185	0.21993	N	AEFBI	0.030555	0.03097	N	-1.09885386932235	0.06665	0.3074543	-0.936048724437692	0.11248	0.5718483	0.539620066055636	0.21242	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.87	-0.126	0.12855	-0.129000	0.10493	-0.620000	0.08178	-0.685000	0.04181	0.112000	0.23030	0.052000	0.21854	0.962000	0.52141	0.1588:0.4786:0.0:0.3626	5.477	0.15994	905	0.23532	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	357.98	33	chr5	98869828	.	T	C	357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.703;DP=750;ExcessHet=0.0000;FS=5.532;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.77;ReadPosRankSum=0.894;SOR=0.838	GT:AD:DP:GQ:PL	0/1:43,19:62:99:372,0,1075	20	0	1	0
chr5	110739163	110739163	G	A	exonic	SLC25A46	.	nonsynonymous SNV	SLC25A46:NM_001303249:exon1:c.G44A:p.R15Q	Neuropathy, hereditary motor and sensory, type VIB, Autosomal recessive	YES	431	1088	3	0	0	3	0.00137678	.	.	520552	not_provided|Inborn_genetic_diseases|Neuropathy,_hereditary_motor_and_sensory,_type_6B	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014671,MedGen:C4225302,OMIM:616505	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.997	D	0.703	P	0.000	D	1.000	D	1.95	M	-2.07	D	0.385	D	0.655	D	0.529	4.449	23.7	3.97	1.197	6.384	12.95	0.512	0.669024271648	0.0002	.	0.0001	0	0	0	0	0.0002	0	0.0001	2.59e-05	4	154602	rs372382932	4.006e-05	3.899e-05	3.389e-05	4.641e-05	0.0002	3.164e-05	2.844e-05	3.445e-05	3.046e-05	0	0	0	0	0	0.0002	4.449e-05	1.726e-05	7.574e-05	3.941e-05	3.94e-05	5.137e-05	2.689e-05	0.0003	1.715e-05	1.129e-05	8.873e-05	5.283e-05	2.412e-05	0	0.0003	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.703	0.54270	P	0.000054	0.53742	D	0.121669	0.999375	0.81001	D	2.32	0.66415	M	-2.07	0.86722	D	-0.95	0.25332	N	0.544	0.57433	0.385	0.88875	D	0.655	0.88012	D	10	0.65353465	0.69741	D	0.669024	0.97235	D	0.512	0.79094	.	.	0.74894119478	0.74667	0.6153829533266867	0.61470	0.0759007958584	0.08520	0.865649163723	0.91941	D	0.020416	0.16081	T	0.0210351	0.54521	T	-0.0210237	0.68961	D	0.649829745292664	0.38455	D	0.871313	0.57716	D	0.53494847	0.69112	0.6057321	0.77080	0.53494847	0.69113	0.6057321	0.77081	-4.307	0.28274	T	.	.	0.432	0.61306	A	.;.	.;.	4.524098	0.70963	25.6	0.99885608978975193	0.96049	0.81999	0.41297	D	ALL	0.674978	0.64052	D	0.530777707798563	0.68919	5.28398	0.501537179087623	0.68096	5.172866	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.88	3.97	0.45241	6.260000	0.72463	7.115000	0.57578	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:0.8367:0.1633	12.95	0.57792	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	861.98	38	chr5	110739163	.	G	A	861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.470;DP=725;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.61;ReadPosRankSum=-1.710e-01;SOR=0.833	GT:AD:DP:GQ:PL	0/1:23,36:59:99:876,0,461	20	0	1	0
chr5	113488342	113488342	-	GCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.72_73insGGC:p.S24_S25insG,	Colorectal cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0051	0.0015	0.0020	0	0.0005	0.0020	0.0044	0.0021345	330	154602	rs775732898	0.0008	0.0011	0.0009	0.0008	0.0099	0.0008	0.0008	0.0089	0.0085	0.0099	0.0024	0.0002	9.69e-05	0.0001	0.0026	0.0006	0.0016	0.0006	0.0034	0.0034	0.0034	0.0034	0.0095	0.0032	0.0031	0.0087	0.0084	0.0095	0	0.0045	0	0.0006	9.529e-05	0.0103	0.0006	0.0043	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55421.17	118	chr5	113488342	.	T	C,TGCTGCTGCC,TGCC	55421.17	.	AC=27,7,1;AF=0.643,0.167,0.024;AN=42;BaseQRankSum=-1.446e+00;DP=2966;ExcessHet=2.5830;FS=1.369;InbreedingCoeff=-0.2000;MLEAC=27,7,1;MLEAF=0.643,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=21.98;ReadPosRankSum=-1.100e-02;SOR=0.803	GT:AD:DP:GQ:PL	1/1:1,147,0,0:148:99:4100,413,0,4103,441,4131,4103,441,4131,4131	0	7	7	0
chr5	113488351	113488351	-	GCCGCTGCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.63_64insGGCAGCGGC:p.G21_S22insGSG,	Colorectal cancer, somatic	.	0	73	103	46	4	199	0.571848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3783	.	0.0057	0	0	0.0032	0	0.0008	0	0.0260	0.0009989	26	26028	rs531679771	0.0043	0.0048	0.0037	0.0049	0.0326	0.0042	0.0042	0.0314	0.0310	0.0004	0.0013	0.0091	0.0236	0.0006	0.0039	0.0021	0.0049	0.0326	0.0037	0.0038	0.0029	0.0045	0.0508	0.0035	0.0034	0.0456	0.0436	0.0008	0	0.0018	0.0098	0.0124	0.0004	0	0.0022	0.0048	0.0508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	37732.13	76	chr5	113488351	.	T	TGCC,TGCCGCTGCC	37732.13	.	AC=22,1;AF=0.524,0.024;AN=42;BaseQRankSum=0.319;DP=2449;ExcessHet=5.5923;FS=0.563;InbreedingCoeff=-0.2494;MLEAC=22,1;MLEAF=0.524,0.024;MQ=60.00;MQRankSum=0.00;QD=25.19;ReadPosRankSum=0.315;SOR=0.655	GT:AD:DP:GQ:PL	1/1:2,93,0:95:99:4014,194,0,4021,280,4107	3	5	12	0
chr5	116015368	116015368	-	ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2567_2568insATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC:p.Q857_T990delinsYIYIWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0003	0.0002	0.0004	0.0008	0.0003	0.0011	0.0022	3.84e-05	1	26028	rs760127445	0.0002	0.0007	0.0001	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0003	0	0.0002	0.0003	0.0003	6.589e-06	0.0003	1.289e-05	0	1.476e-05	0	0	.	.	0	0	0	0	0	0	0	1.476e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	984.49	110	chr5	116015368	.	T	TATATATATATATATGGAAC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA	984.49	.	AC=1,1,2,1;AF=0.024,0.024,0.048,0.024;AN=42;BaseQRankSum=0.519;DP=1335;ExcessHet=1.1607;FS=35.459;InbreedingCoeff=-0.1351;MLEAC=1,1,2,1;MLEAF=0.024,0.024,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.10;ReadPosRankSum=-2.189e+00;SOR=4.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:90,0,0,10,0:100:99:0|1:116015368_T_TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG:139,420,4211,420,4211,4211,0,3791,3791,3761,420,4211,4211,3791,4211:116015368	16	0	1	0
chr5	116015368	116015368	-	ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2567_2568insATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG:p.Q857Yfs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0006	0.0003	0.0001	0.0003	0.0005	0	0.0021	3.84e-05	1	26028	rs760127445	0.0002	0.0006	0.0001	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	9.111e-05	0.0002	0.0001	0.0001	0.0006	0	0.0002	0.0002	0.0002	0.0001	0.0016	9.04e-05	0.0001	0.0002	7.612e-05	6.311e-05	0.0001	7.945e-05	4.827e-05	0	0	0	0.0002	0.0002	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	984.49	110	chr5	116015368	.	T	TATATATATATATATGGAAC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA	984.49	.	AC=1,1,2,1;AF=0.024,0.024,0.048,0.024;AN=42;BaseQRankSum=0.519;DP=1335;ExcessHet=1.1607;FS=35.459;InbreedingCoeff=-0.1351;MLEAC=1,1,2,1;MLEAF=0.024,0.024,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.10;ReadPosRankSum=-2.189e+00;SOR=4.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:90,0,0,10,0:100:99:0|1:116015368_T_TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG:139,420,4211,420,4211,4211,0,3791,3791,3761,420,4211,4211,3791,4211:116015368	16	0	1	0
chr5	116015368	116015368	-	ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2567_2568insATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA:p.Q857Yfs*7,	.	.	435	1072	3	0	12	15	0.0013973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.857e-05	8.687e-05	1.94e-05	3.786e-05	0.0002	2.126e-05	1.913e-05	9.71e-06	7.73e-06	0	2.327e-05	0	0	0.0003	0.0002	1.552e-05	1.684e-05	3.656e-05	6.593e-06	0.0002	0	1.35e-05	1.475e-05	0	0	.	.	0	0	0	0	0	0	0	1.475e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	984.49	110	chr5	116015368	.	T	TATATATATATATATGGAAC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA	984.49	.	AC=1,1,2,1;AF=0.024,0.024,0.048,0.024;AN=42;BaseQRankSum=0.519;DP=1335;ExcessHet=1.1607;FS=35.459;InbreedingCoeff=-0.1351;MLEAC=1,1,2,1;MLEAF=0.024,0.024,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.10;ReadPosRankSum=-2.189e+00;SOR=4.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:90,0,0,10,0:100:99:0|1:116015368_T_TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG:139,420,4211,420,4211,4211,0,3791,3791,3761,420,4211,4211,3791,4211:116015368	16	0	1	0
chr5	116015370	116015370	-	TCACAGATGCTGGCTA	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2569_2570insTCACAGATGCTGGCTA:p.Q857Lfs*6,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	9.94e-05	0	0	0.0002	0	0	3.84e-05	1	26028	rs749164698	4.499e-06	0.0004	4.446e-06	4.552e-06	1.409e-05	1.62e-06	1.06e-06	.	.	0	0	0	0	9.164e-05	0	0	1.798e-05	1.409e-05	7.727e-06	0.0006	1.498e-05	0	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	436.45	39	chr5	116015370	.	C	CTCACAGATGCTGGCTA,A	436.45	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=1.28;DP=1348;ExcessHet=0.3300;FS=41.519;InbreedingCoeff=-0.0783;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=1.65;ReadPosRankSum=-1.755e+00;SOR=3.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,10,0:100:99:0|1:116015368_T_TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG:140,0,3759,420,3789,4209:116015368	18	0	2	0
chr5	119133866	119133866	G	A	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon12:c.G1942A:p.V648I	.	.	428	1085	9	0	0	9	0.00413034	.	.	3205815	DMXL1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.566	P	0.133	B	0.000	D	0.998	D	1.85	L	5.03	T	-1.093	T	0.030	T	0.21	2.080	12.91	4.55	1.284	3.255	15.482	0.130	.	0.0011	0.00359425	0.0020	0.0003	0.0007	0	0	0.0011	0	0.0093	0.0018758	290	154602	rs139365266	0.0015	0.0015	0.0013	0.0018	0.0090	0.0015	0.0015	0.0085	0.0083	2.987e-05	0.0004	7.653e-05	0	3.747e-05	0.0050	0.0012	0.0015	0.0090	0.0012	0.0012	0.0010	0.0014	0.0110	0.0011	0.0010	0.0086	0.0078	9.634e-05	0	0.0004	0	0.0004	0	0	0.0017	0.0014	0.0110	0.053	0.38863	T	.	.	.	0.566	0.38464	P	0.133	0.33073	B	0.000002	0.62929	D	0.058133	0.997502	0.43943	D	2.585	0.75554	M	2.8	0.11082	T	-0.82	0.22508	N	0.4	0.44090	-1.0934	0.04989	T	0.030	0.12935	T	9	0.0071781278	0.00163	T	.	.	.	0.130	0.35528	.	.	0.225033846419	0.22103	0.2177651963158737	0.21692	0.0511073577928	0.05625	0.528367519379	0.42804	T	0.036034	0.26392	T	-0.529071	0.00389	T	-0.526494	0.19639	T	0.0198272694830929	0.00684	T	0.976102	0.91674	D	0.10978227	0.25953	0.10179884	0.24379	0.10978227	0.25953	0.10179884	0.24379	-7.554	0.57989	D	.	.	0.088	0.12037	B	.;.	.;.	3.867414	0.56123	23.7	0.97938108614613817	0.37006	0.92983	0.57030	D	AEFBI	0.291882	0.40290	N	-0.112373316446154	0.36853	2.135912	-0.000826354215022196	0.39680	2.356308	0.061060813687412	0.15218	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.43	4.55	0.55429	3.341000	0.51869	11.798000	0.96570	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.8602:0.1398	15.482	0.75269	885	0.28214	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3003.98	33	chr5	119133866	.	G	A	3003.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.600e-02;DP=883;ExcessHet=0.0000;FS=1.826;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.06;ReadPosRankSum=-4.610e-01;SOR=0.565	GT:AD:DP:GQ:PL	0/1:77,110:187:99:3018,0,1979	20	0	1	0
chr5	131670501	131670501	G	A	exonic	FNIP1	.	nonsynonymous SNV	FNIP1:NM_001008738:exon14:c.C2986T:p.R996C	.	.	438	1081	3	0	0	3	0.00138568	.	.	2706846	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.917	D	.	.	1.000	D	1.845	L	2.62	T	-1.190	T	0.078	T	0.938	3.840	19.50	6.02	2.857	3.553	13.411	0.272	0.0273002320026	7.7e-05	.	3.304e-05	0	0	0	0	3.005e-05	0.0011	6.098e-05	2.59e-05	4	154602	rs143921415	2.739e-05	2.736e-05	1.908e-05	3.579e-05	2.969e-05	2.065e-05	1.818e-05	2.117e-05	1.863e-05	0	0	0	2.523e-05	5.618e-05	0	2.969e-05	1.659e-05	2.326e-05	2.63e-05	2.627e-05	1.286e-05	4.038e-05	4.411e-05	8.15e-06	5.14e-06	1.171e-05	6.25e-06	2.415e-05	0	0	0	0	0	0	4.411e-05	0	0	0.001	0.78490	D	0.002	0.83351	D	1.0	0.90584	D	0.894	0.65306	P	.	.	.	.	0.999994	0.81001	D	1.5	0.37844	L	2.6	0.13204	T	-4.61	0.82450	D	0.873	0.87265	-1.1902	0.00240	T	0.078	0.31072	T	9	0.6990173	0.72325	D	0.027	0.50125	D	0.272	0.58758	.	.	0.117191471859	0.11215	0.5930691264892375	0.59236	0.398566252072	0.40910	.	.	.	0.171659	0.64534	T	0.0602909	0.59649	T	0.0309741	0.72341	D	0.644260585308075	0.38217	D	0.90321	0.67118	D	0.32257482	0.54856	0.3576969	0.61259	0.32257482	0.54856	0.3576969	0.61258	-10.782	0.78706	D	.	.	0.192	0.41372	B	.;.;.;.	.;.;.;.	5.619354	0.92591	32	0.99921919378780033	0.98787	0.93401	0.58119	D	AEFBI	0.506025	0.53692	D	0.70420063770775	0.79909	7.178193	0.720538382207275	0.83938	8.154991	0.999998246233046	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	6.02	6.02	0.97559	3.597000	0.53777	8.639000	0.77885	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.743:0.257	13.411	0.60391	375	0.84013	.;Folliculin-interacting protein, C-terminal domain|Tripartite DENN domain, FNIP1/2-type;Folliculin-interacting protein, C-terminal domain|Tripartite DENN domain, FNIP1/2-type;Folliculin-interacting protein, C-terminal domain|Tripartite DENN domain, FNIP1/2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1226.98	33	chr5	131670501	.	G	A	1226.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.712;DP=840;ExcessHet=0.0000;FS=2.310;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=0.247;SOR=0.505	GT:AD:DP:GQ:PL	0/1:65,56:121:99:1241,0,1414	20	0	1	0
chr5	132761515	132761515	C	T	exonic	SEPTIN8	.	nonsynonymous SNV	SEPTIN8:NM_001098811:exon7:c.G905A:p.R302H	.	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	1.0	D	1.0	D	0.000	D	1.000	D	2.61	M	-1.69	D	0.284	D	0.632	D	0.636	5.180	32	4.41	1.227	7.792	14.064	0.654	.	0.0056	0.00199681	0.0054	0.0011	0.0035	0	0.0110	0.0063	0.0077	0.0060	0.0052263	808	154602	rs138928263	0.0066	0.0066	0.0066	0.0067	0.0073	0.0065	0.0065	0.0071	0.0071	0.0007	0.0021	0.0012	0.0001	0.0106	0.0028	0.0073	0.0045	0.0072	0.0050	0.0050	0.0047	0.0054	0.0076	0.0047	0.0046	0.0071	0.0069	0.0012	0.0011	0.0033	0.0012	0	0.0113	0	0.0076	0.0024	0.0039	0.005	0.63226	D	0.226	0.36630	T	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.054447	1	0.81001	D	2.475	0.71894	M	-1.69	0.82985	D	-3.9	0.72932	D	0.829	0.85766	0.284	0.87299	D	0.632	0.87110	D	10	0.013727725	0.00290	T	.	.	.	0.654	0.86986	.	.	0.7881921855	0.78623	0.6170169416498961	0.61633	1.30319291538	0.83068	0.805696189404	0.82831	D	0.244102	0.61316	T	-0.140127	0.29869	T	0.0324803	0.72439	D	0.0132112862283915	0.00235	T	0.971203	0.89615	D	0.58278745	0.71760	0.3514599	0.60739	0.58278745	0.71762	0.3514599	0.60739	-12.34	0.87739	D	.	.	0.350	0.60139	A	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.712119	0.93176	33	0.99952299636929642	0.99951	0.96631	0.70114	D	AEFGBCI	0.939655	0.94054	D	0.679638908470738	0.78297	6.843471	0.630852866548523	0.77193	6.632203	0.999999999999594	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.28	4.41	0.52588	7.879000	0.85694	7.676000	0.65050	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9271:0.0:0.0729	14.064	0.64338	900	0.24599	Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;.;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;.;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;.;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;.	.	.	.	.	rs138928263	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2779.98	41	chr5	132761515	.	C	T	2779.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=992;ExcessHet=0.0000;FS=3.210;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=-7.800e-01;SOR=0.557	GT:AD:DP:GQ:PL	0/1:89,112:201:99:2794,0,1909	20	0	1	0
chr5	134304549	134304549	T	A	exonic	CDKL3	.	nonsynonymous SNV	CDKL3:NM_001349366:exon6:c.A592T:p.I198L	.	.	440	1080	2	0	0	2	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.138	B	0.023	B	0.269	N	1.000	N	0.345	N	0.9	T	-0.970	T	0.143	T	0.071	1.909	12.34	1.28	0.315	-0.755	4.501	0.098	0.0243044724896	0.0004	0.00139776	0.0003	0.0018	0.0005	0	0	7.369e-05	0	7.199e-05	0.0002458	38	154602	rs376532976	9.345e-05	9.371e-05	8.062e-05	0.0001	0.0019	8.06e-05	7.551e-05	0.0014	0.0013	0.0018	0.0009	0	0	0	0.0019	9.012e-06	0.0003	1.181e-05	0.0006	0.0006	0.0005	0.0006	0.0016	0.0005	0.0004	0.0011	0.0009	0.0013	0	0.0016	0	0	0	0.0034	2.941e-05	0.0019	0	0.148	0.25255	T	0.231	0.25061	T	0.006	0.17573	B	0.001	0.17295	B	0.269326	0.15158	N	0.618388	1	0.08975	N	0.345	0.11182	N	-0.65	0.72785	T	-0.54	0.16598	N	0.241	0.27197	-0.9698	0.37242	T	0.143	0.46440	T	10	0.009687334	0.00218	T	0.024304	0.47297	T	0.098	0.28162	0.086	0.00867	0.294918367191	0.29099	0.04049316222694483	0.03995	0.0201066416004	0.01973	0.31461673975	0.12605	T	0.00868	0.07952	T	-0.544284	0.00316	T	-0.573617	0.15119	T	0.00441486767835874	0.00047	T	0.678632	0.28733	T	0.04973098	0.08875	0.053299148	0.08950	0.04973098	0.08875	0.053299148	0.08950	-3.136	0.11714	T	.	.	0.068	0.13737	B	.;.;.	.;.;.	0.798885	0.11694	8.275	0.95469613363735706	0.27016	0.02283	0.06581	N	AEDGHCIJ	0.090588	0.18355	N	-0.740892299570363	0.14882	0.7451783	-0.669799724964899	0.17717	0.9433372	0.00997676721447742	0.11944	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.75	1.28	0.20656	-0.739000	0.04971	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.986000	0.61781	0.1521:0.4356:0.0:0.4123	4.501	0.11275	345	0.85689	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1276.98	35	chr5	134304549	.	T	A	1276.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.630e-01;DP=785;ExcessHet=0.0000;FS=0.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=2.30;SOR=0.547	GT:AD:DP:GQ:PL	0/1:39,55:94:99:1291,0,885	20	0	1	0
chr5	134855357	134855357	G	A	exonic	C5orf24	.	nonsynonymous SNV	C5orf24:NM_001135586:exon2:c.G457A:p.D153N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.001	B	0.001	B	0.000	D	1.000	D	-0.55	N	.	.	-0.985	T	0.039	T	0.024	1.425	10.71	5.01	2.838	7.336	3.994	0.164	0.00103498995174	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs758397310	2.326e-05	2.326e-05	1.633e-05	3.025e-05	0.0004	1.674e-05	1.477e-05	0.0002	0.0002	0.0004	4.472e-05	0	0	0	0.0002	8.993e-07	0.0001	9.275e-05	1.971e-05	1.969e-05	1.285e-05	2.687e-05	0.0002	5.24e-06	2.45e-06	7.98e-06	2.98e-06	4.814e-05	0	0	0	0	0	0	0	0	0.0002	0.634	0.05091	T	0.966	0.02509	T	0.001	0.07471	B	0.001	0.04355	B	0.000010	0.62929	D	0.109289	0.985357	0.81001	D	-1.79	0.00298	N	.	.	.	-0.45	0.14782	N	0.119	0.16308	-0.9850	0.33832	T	0.039	0.16763	T	9	0.027187645	0.00869	T	0.001035	0.01144	T	0.164	0.42212	0.201	0.11522	0.0675242888579	0.06100	0.2767448293139494	0.27587	0.401262312476	0.41111	.	.	.	0.025844	0.19245	T	-0.414891	0.01845	T	-0.631084	0.10333	T	0.982011556625366	0.74243	D	0.873913	0.58386	D	0.03762255	0.04859	0.029957863	0.01392	0.03762255	0.04859	0.029957863	0.01391	-3.174	0.12165	T	.	.	0.066	0.02091	B	.;.;.	.;.;.	3.778426	0.54311	23.5	0.93147450806743681	0.22793	0.90918	0.52509	D	AEFDGBI	0.243471	0.36475	N	-0.201320999784782	0.33080	1.872764	0.0918624604453567	0.44137	2.701432	0.999999997788766	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.98	5.01	0.66477	7.367000	0.78814	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.3128:0.0:0.6872:0.0	3.994	0.09041	799	0.44747	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1901.98	35	chr5	134855357	.	G	A	1901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.080e-01;DP=825;ExcessHet=0.0000;FS=2.146;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=-1.509e+00;SOR=0.558	GT:AD:DP:GQ:PL	0/1:64,75:139:99:1916,0,1636	20	0	1	0
chr5	135825729	135825729	C	A	exonic	LOC107986453	.	stopgain	LOC107986453:NM_001365196:exon3:c.C485A:p.S162X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.358e-06	0	0	.	0	0	.	.	0	0	0	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	986.23	99	chr5	135825729	.	C	A,T	986.23	.	AC=2,5;AF=0.091,0.227;AN=22;BaseQRankSum=0.457;DP=99;ExcessHet=0.0678;FS=1.884;InbreedingCoeff=0.1957;MLEAC=2,9;MLEAF=0.091,0.409;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=-1.282e+00;SOR=0.476	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,4:4:12:.:.:99,99,99,12,12,0	6	1	0	10
chr5	138783229	138783229	G	C	exonic	CTNNA1	.	nonsynonymous SNV	CTNNA1:NM_001290307:exon3:c.G158C:p.G53A	Macular dystrophy, patterned, 2, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.872	P	0.705	P	0.000	D	1.000	D	2.565	M	1.14	T	-0.734	T	0.233	T	0.777	5.021	29.6	5.71	2.704	9.813	19.458	0.449	0.0298016028861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	0.571	0.47902	P	0.587	0.54320	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.545	0.74286	M	1.14	0.50192	T	-4.75	0.80256	D	0.715	0.73555	-0.7338	0.58771	T	0.233	0.59953	T	10	0.69009626	0.71802	D	0.029802	0.52238	D	0.449	0.75004	0.523	0.62668	0.74418443796	0.74188	0.6178551982887122	0.61718	0.623089075282	0.56542	0.824554204941	0.85728	D	0.144529	0.81833	T	0.15507	0.69742	D	-0.0150292	0.69355	D	0.991934299468994	0.82306	D	0.989912	0.96822	D	0.49686974	0.66910	0.4543378	0.68271	0.49686974	0.66911	0.4543378	0.68271	-10.414	0.76351	D	0.6032830217688735	0.67044	0.993	0.95728	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.243913	0.88041	29.5	0.99762842982922051	0.85172	0.99388	0.95384	D	AEFGBI	0.962611	0.98426	D	0.565152398191243	0.71010	5.586284	0.627445119372814	0.76940	6.584647	0.999999999999999	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.71	5.71	0.89031	10.003000	0.99689	11.808000	0.96852	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.458	0.94897	451	0.79296	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	41.67	31	chr5	138783229	.	G	C	41.67	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.903e+00;DP=901;ExcessHet=0.0000;FS=207.787;InbreedingCoeff=-0.0504;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.76;ReadPosRankSum=0.911;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:40,15:55:55:.:.:55,0,681	19	0	1	1
chr5	139478449	139478449	C	A	exonic	STING1	.	nonsynonymous SNV	STING1:NM_001367258:exon5:c.G223T:p.V75L	.	.	421	1096	5	0	0	5	0.00227583	.	.	454714	STING1-related_disorder|Autoinflammatory_syndrome|not_provided|STING-associated_vasculopathy_with_onset_in_infancy	.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900|MONDO:MONDO:0014405,MedGen:C4014722,OMIM:615934,Orphanet:425120	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.3	T	0.011	B	0.009	B	0.155	N	1.000	N	0	N	1.93	T	-1.044	T	0.013	T	0.058	1.366	10.50	4.61	1.294	0.571	12.728	0.055	.	0.0044	0.00479233	0.0014	0.0116	0.0009	0	0	0.0005	0	0.0001	0.0013713	212	154602	rs114834699	0.0006	0.0006	0.0006	0.0006	0.0145	0.0006	0.0006	0.0134	0.0130	0.0145	0.0017	0.0010	0	0	0.0050	0.0002	0.0019	9.275e-05	0.0034	0.0035	0.0035	0.0034	0.0105	0.0032	0.0031	0.0097	0.0093	0.0105	0	0.0042	0.0009	0	0	0.0102	0.0002	0.0019	0	0.34	0.12714	T	0.311	0.19721	T	0.011	0.15914	B	0.009	0.14300	B	0.154779	0.17851	N	0.585375	1	0.08975	N	0	0.06538	N	1.93	0.22881	T	-0.48	0.15379	N	0.061	0.03283	-1.0435	0.16265	T	0.013	0.04843	T	10	0.005369246	0.00118	T	.	.	.	0.055	0.15663	0.298	0.26362	0.223847106136	0.22009	.	.	0.480227256702	0.47039	0.253658235073	0.04163	T	0.030118	0.21426	T	-0.664623	0.00059	T	-0.718067	0.04890	T	0.00102074646949297	0.00010	T	0.721628	0.33490	T	0.14636981	0.33509	0.10053681	0.24042	0.19519722	0.41299	0.09903462	0.23630	-2.742	0.07663	T	.	.	0.144	0.31708	B	.;.	.;.	0.391193	0.07630	4.292	0.73947966798636278	0.10514	0.27781	0.23373	N	AEFBCI	0.209917	0.33586	N	-1.02847326077839	0.08016	0.3744136	-0.952368486846268	0.10868	0.5501788	0.999984754451863	0.51787	0.706298	0.61202	0	0.709663	0.81188	0	0.608075	0.38828	0	0.714379	0.83352	0	.	.	5.49	4.61	0.56724	0.971000	0.28993	0.559000	0.19493	-0.217000	0.08171	0.065000	0.21925	0.000000	0.08366	0.110000	0.18741	0.0:0.6835:0.3165:0.0	12.728	0.56555	244	0.90442	Stimulator of interferon genes protein, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1571.98	38	chr5	139478449	.	C	A	1571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.000e-02;DP=925;ExcessHet=0.0000;FS=4.397;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=-2.910e-01;SOR=1.085	GT:AD:DP:GQ:PL	0/1:58,63:121:99:1586,0,1404	20	0	1	0
chr5	139481194	139481194	G	T	exonic	STING1	.	nonsynonymous SNV	STING1:NM_001367258:exon3:c.C19A:p.L7I	.	.	379	1138	5	0	0	5	0.00219202	.	.	455169	not_provided|STING1-related_disorder|Autoinflammatory_syndrome|STING-associated_vasculopathy_with_onset_in_infancy	MedGen:C3661900|.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0014405,MedGen:C4014722,OMIM:615934,Orphanet:425120	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.05	D	0.837	P	0.434	B	0.000	N	0.843	D	2.175	M	1.8	T	-1.053	T	0.028	T	0.072	2.116	13.03	2.78	0.273	2.367	8.190	0.118	.	0.0042	0.00479233	0.0014	0.0116	0.0009	0	0	0.0005	0	0.0001	0.0013648	211	154602	rs142609349	0.0006	0.0006	0.0006	0.0006	0.0142	0.0006	0.0006	0.0132	0.0128	0.0142	0.0017	0.0010	0	0	0.0045	0.0002	0.0017	9.275e-05	0.0034	0.0034	0.0035	0.0033	0.0105	0.0032	0.0031	0.0096	0.0093	0.0105	0	0.0042	0.0009	0	0	0.0103	0.0002	0.0019	0	0.023	0.48186	D	0.077	0.42436	T	0.837	0.46346	P	0.434	0.45506	B	0.000410	0.44736	N	0.142967	0.842861	0.35095	D	2.7	0.79018	M	1.8	0.25344	T	-0.67	0.19297	N	0.414	0.45426	-1.0526	0.13682	T	0.028	0.11926	T	10	0.0062081516	0.00140	T	.	.	.	0.118	0.32913	.	.	0.469907520169	0.46616	.	.	0.611119145191	0.55765	0.406449615955	0.25965	T	0.090329	0.38562	T	-0.595188	0.00156	T	-0.618328	0.11316	T	0.0168981906981907	0.00442	T	0.594141	0.21965	T	0.21879041	0.44395	0.15372814	0.36112	0.24104431	0.47015	0.14688535	0.34782	-5.095	0.37855	T	.	.	0.140	0.30791	B	.;.	.;.	0.939738	0.13151	9.655	0.98757106587926713	0.45755	0.73857	0.36126	D	AEFDGBCIJ	0.430206	0.49301	N	-0.303312687965307	0.29022	1.605772	-0.335478535615709	0.26962	1.492858	0.999996660000697	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.602189	0.34648	0	0.638787	0.57140	0	.	.	5.58	2.78	0.31702	1.911000	0.39567	1.035000	0.23510	-1.060000	0.01619	0.943000	0.32764	0.999000	0.35428	0.001000	0.02609	0.0728:0.0:0.63:0.2972	8.190	0.30524	242	0.90534	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2717.98	38	chr5	139481194	.	G	T	2717.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.186e+00;DP=1156;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=-1.530e-01;SOR=0.698	GT:AD:DP:GQ:PL	0/1:105,103:208:99:2732,0,2844	20	0	1	0
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.106	B	0.102	B	0.001	N	0.755	D	0.35	N	1.58	T	-1.019	T	0.045	T	0.06	3.188	16.67	5.29	2.473	2.054	10.020	0.031	0.00739077046255	.	.	8.286e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs774596341	1.371e-06	1.369e-06	1.365e-06	1.378e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	6.59e-06	6.574e-06	0	1.35e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.184	0.23360	T	0.164	0.31026	T	0.087	0.26037	B	0.062	0.30857	B	0.000522	0.43581	N	0.227934	0.755028	0.33972	D	0.135	0.08676	N	1.58	0.29085	T	-0.32	0.21003	N	0.423	0.46274	-1.0194	0.23910	T	0.045	0.19518	T	10	0.22371674	0.39157	T	0.007391	0.19603	T	0.031	0.07369	0.366	0.37361	0.498748557451	0.49510	0.4556412808571356	0.45482	0.884494878246	0.69920	0.694656133652	0.66374	T	0.195255	0.55127	T	-0.302609	0.08415	T	-0.672453	0.07451	T	0.361964405132886	0.27486	T	0.79652	0.44558	T	0.08836372	0.20609	0.102840796	0.24660	0.08836372	0.20609	0.102840796	0.24659	-7.518	0.70016	D	.	.	0.221	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.573511	0.50344	22.9	0.99603636505572957	0.74338	0.69576	0.34242	D	AEFBI	0.254283	0.37363	N	-0.162749740398921	0.34693	1.983396	0.0478054099699094	0.41967	2.53021	0.600115135775481	0.21718	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.879000	0.48220	5.991000	0.52331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9072:0.0:0.0928	10.020	0.41207	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2941	1317.98	74	chr5	139887481	.	C	T	1317.98	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-4.144e+00;DP=2291;ExcessHet=6.1002;FS=235.435;InbreedingCoeff=-0.3991;MLEAC=11;MLEAF=0.324;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=0.733;SOR=11.408	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:100,28:128:99:.:.:273,0,3326	7	0	10	4
chr5	139887483	139887483	C	G	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G729C:p.K243N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.928	P	0.653	P	0.001	D	0.844	D	1.37	L	-0.42	T	-0.572	T	0.250	T	0.143	3.573	18.21	1.49	-0.008	0.043	8.579	0.129	0.0404591134086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	0.0001	0	1.376e-06	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.61437	D	0.159	0.58089	T	0.355	0.51611	B	0.285	0.52567	B	0.000553	0.43413	D	0.190992	0.843543	0.35106	D	0.855	0.21307	L	-0.42	0.69536	T	-2.26	0.50502	N	0.611	0.62781	-0.5718	0.65943	T	0.250	0.61993	T	10	0.51356286	0.62236	D	0.040459	0.59387	D	0.129	0.35316	0.432	0.48171	0.770213433332	0.76810	0.7045747211234696	0.70399	1.82077106802	0.91947	0.807813405991	0.83157	D	0.308239	0.68034	T	-0.142554	0.29486	T	-0.442546	0.28523	T	0.832137286663055	0.48697	D	0.877812	0.59215	D	0.16882665	0.37363	0.1489359	0.35185	0.16882665	0.37363	0.1489359	0.35184	-8.046	0.70185	D	.	.	0.798	0.86783	P	.;.;.;.;.;.	.;.;.;.;.;.	3.258046	0.44540	22.0	0.99831464818289628	0.91284	0.76178	0.37342	D	AEFBI	0.317848	0.42172	N	-0.0410797527166822	0.40002	2.368239	-0.0277489813419687	0.38467	2.266707	0.00604997340288372	0.11113	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	1.49	0.21966	0.199000	0.17037	0.102000	0.14662	-0.182000	0.10109	0.995000	0.38783	0.922000	0.28345	0.994000	0.71098	0.0:0.6914:0.0:0.3086	8.579	0.32777	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1380.18	70	chr5	139887483	.	C	G,T	1380.18	.	AC=7,3;AF=0.184,0.079;AN=38;BaseQRankSum=-4.039e+00;DP=2146;ExcessHet=6.1002;FS=245.753;InbreedingCoeff=-0.3923;MLEAC=8,3;MLEAF=0.211,0.079;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.802;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:92,5,28:125:99:.:.:302,512,2736,0,2355,3269	9	0	7	2
chr5	140788503	140788503	C	T	exonic	PCDHA1	.	nonsynonymous SNV	PCDHA1:NM_018900:exon1:c.C2213T:p.T738I	.	.	423	1060	38	1	0	40	0.0185185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.26	B	0.135	B	0.377	U	1.000	N	2.75	M	2.69	T	-1.005	T	0.023	T	0.104	0.363	5.972	-6.43	-1.862	-4.251	3.890	0.041	.	0.0058	0.00479233	0.0063	0.0010	0.0022	0	0.0011	0.0082	0.0088	0.0101	0.0060995	943	154602	rs13176401	0.0070	0.0070	0.0068	0.0072	0.0123	0.0069	0.0069	0.0104	0.0102	0.0011	0.0027	0.0242	5.038e-05	0.0007	0.0123	0.0072	0.0074	0.0110	0.0053	0.0053	0.0060	0.0046	0.0073	0.0050	0.0049	0.0068	0.0066	0.0015	0	0.0063	0.0262	0.0004	0.0008	0.0102	0.0073	0.0071	0.0072	0.026	0.46910	D	0.289	0.21078	T	0.079	0.31497	B	0.135	0.33210	B	0.377027	0.04397	U	1.564530	1	0.08975	N	2.98	0.85499	M	2.69	0.12268	T	-3.01	0.64246	D	0.094	0.24758	-1.0051	0.28427	T	0.023	0.09650	T	10	0.0038641095	0.00073	T	.	.	.	0.041	0.10877	.	.	0.146414634003	0.14194	0.4992395497059017	0.49844	0.509160944495	0.49056	.	.	.	0.330682	0.70084	T	-0.653046	0.00069	T	-0.70287	0.05670	T	0.0360362763197902	0.02986	T	0.877312	0.59062	D	0.068108805	0.14811	0.1010875	0.24189	0.068108805	0.14811	0.1010875	0.24188	-5.73	0.46687	T	.	.	0.117	0.23605	B	.;.	.;.	0.117301	0.05153	1.676	0.90841325934908235	0.20090	0.01400	0.04746	N	AEFDBI	0.057516	0.10720	N	-1.38394634931916	0.02788	0.1236151	-1.60201900919824	0.01643	0.07457226	0.881550449451469	0.25634	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.16	-6.43	0.01754	-2.791000	0.00837	.	.	-0.896000	0.02358	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.2076:0.1868:0.4658:0.1398	3.890	0.08619	18	0.98631	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	4721.98	145	chr5	140788503	.	C	T	4721.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.330e+00;DP=2440;ExcessHet=0.0000;FS=8.913;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.16;ReadPosRankSum=1.66;SOR=0.375	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,127:260:99:0|1:140788485_A_G:4736,0,5140:140788485	20	0	1	0
chr5	140796088	140796088	C	T	exonic	PCDHA2	.	nonsynonymous SNV	PCDHA2:NM_018905:exon1:c.C1124T:p.S375L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.902	P	0.413	B	0.002	U	1.000	N	1.625	L	0.65	T	-1.019	T	0.107	T	0.482	1.088	9.442	4.12	2.003	0.249	7.576	0.151	0.025918676997	7.7e-05	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs371276136	8.209e-06	8.893e-06	8.167e-06	8.25e-06	8.961e-05	4.38e-06	3.46e-06	2.374e-05	1.258e-05	8.961e-05	0	0	0	0	0	8.093e-06	0	0	6.569e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.136	0.39820	T	0.106	0.37872	T	0.88	0.49745	P	0.413	0.44885	B	0.001726	0.38161	U	0.000000	0.999975	0.18612	N	1.76	0.45711	L	0.65	0.52642	T	-4.97	0.82063	D	0.122	0.11340	-1.0192	0.23975	T	0.107	0.38857	T	10	0.4895926	0.60912	T	0.025919	0.48863	D	0.151	0.39764	.	.	0.588470723157	0.58522	0.10432712618644004	0.10362	.	.	.	.	.	0.057594	0.30609	T	-0.106243	0.35389	T	-0.374901	0.36317	T	0.663314580917358	0.39042	D	0.893711	0.63166	D	0.19291459	0.40979	0.23799689	0.49111	0.19291459	0.40979	0.23799689	0.49110	-7.455	0.57822	T	.	.	0.11	0.21201	B	.;.;.	.;.;.	3.911470	0.57044	23.8	0.99456859947135323	0.65581	0.19434	0.20659	N	AEFDBCI	0.102896	0.20629	N	-0.313038599801853	0.28652	1.582157	-0.43934442381062	0.23852	1.302959	0.0207629581474276	0.13289	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.12	4.12	0.47504	-0.097000	0.11010	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.183000	0.21389	0.1625:0.7497:0.0:0.0878	7.576	0.27104	18	0.98631	.;.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5907.98	39	chr5	140796088	.	C	T	5907.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.878;DP=1280;ExcessHet=0.0000;FS=0.518;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=-1.602e+00;SOR=0.728	GT:AD:DP:GQ:PL	0/1:208,227:435:99:5922,0,5074	20	0	1	0
chr5	140796738	140796738	G	T	exonic	PCDHA2	.	nonsynonymous SNV	PCDHA2:NM_018905:exon1:c.G1774T:p.A592S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.534	P	0.236	B	0.098	U	1.000	N	1.505	L	0.62	T	-1.016	T	0.102	T	0.15	1.955	12.50	1.65	0.097	-0.542	6.735	0.069	0.0326572259776	.	.	8.246e-06	9.621e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs782449118	6.157e-06	6.156e-06	4.084e-06	8.251e-06	0.0005	2.9e-06	2.1e-06	0.0001	7.541e-05	0.0001	0	0	0	0	0.0005	0	1.656e-05	0	1.97e-05	1.97e-05	2.568e-05	1.344e-05	7.234e-05	5.24e-06	2.45e-06	1.918e-05	1.032e-05	7.234e-05	0	0	0	0	0	0	0	0	0	0.017	0.51248	D	0.025	0.56192	D	0.534	0.37787	P	0.183	0.38470	B	0.098435	0.19981	U	0.309511	1	0.81001	D	1.96	0.53105	M	0.62	0.53302	T	-2.03	0.48687	N	0.101	0.11054	-1.0163	0.24916	T	0.102	0.37718	T	10	0.18627658	0.34086	T	0.032657	0.54424	D	0.069	0.20116	0.696	0.83313	0.458734620958	0.45498	0.25009900685227393	0.24923	.	.	.	.	.	0.02059	0.16185	T	-0.315258	0.07293	T	-0.509095	0.21408	T	0.116915583610535	0.14124	T	0.470053	0.13899	T	0.10881634	0.25728	0.10469229	0.25150	0.10881634	0.25728	0.10469229	0.25149	-8.946	0.69337	D	.	.	0.110	0.21087	B	.;.;.	.;.;.	2.189752	0.27918	17.62	0.99319741586925792	0.59317	0.30514	0.24102	N	AEFDBI	0.300062	0.40895	N	-0.480309535167035	0.22727	1.215558	-0.539812688313986	0.21076	1.138495	0.0142423363829538	0.12572	0.700653	0.57754	0	0.573888	0.26702	0	0.717052	0.78885	0	0.604944	0.38103	0	.	.	3.91	1.65	0.23015	-0.335000	0.07917	.	.	0.586000	0.30580	0.000000	0.06391	0.000000	0.08366	0.074000	0.16894	0.359:0.0:0.641:0.0	6.735	0.22591	18	0.98631	.;.;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	6169.98	39	chr5	140796738	.	G	T	6169.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.790e-01;DP=1310;ExcessHet=0.0000;FS=0.523;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=-2.240e-01;SOR=0.620	GT:AD:DP:GQ:PL	0/1:222,232:454:99:6184,0,5817	20	0	1	0
chr5	140848613	140848613	G	A	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.G118A:p.E40K	.	.	442	1033	39	8	0	55	0.0259312	.	.	3206704	PCDHA9-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	.	.	1.000	N	-0.555	N	1.58	T	-0.980	T	0.012	T	0.125	-0.311	2.521	2.52	0.116	-0.206	5.411	0.052	.	.	0.0071885	0.0074	0.0009	0.0061	0.0002	0.0014	0.0089	0.0090	0.0120	0.0013831	36	26028	rs147099629	0.0023	0.0049	0.0021	0.0026	0.0088	0.0023	0.0023	0.0068	0.0061	0.0007	0.0027	0.0133	0.0001	0.0011	0.0088	0.0018	0.0042	0.0063	0.0060	0.0077	0.0066	0.0053	0.0165	0.0056	0.0055	0.0136	0.0125	0.0012	0.0011	0.0078	0.0220	0	0.0011	0.0243	0.0081	0.0082	0.0165	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	-0.23	0.03940	N	1.58	0.29085	T	3.13	0.00124	N	0.075	0.04913	-0.9802	0.34955	T	0.012	0.04510	T	9	0.0044157207	0.00090	T	.	.	.	0.052	0.14661	.	.	0.234412748748	0.23057	0.5052483064863803	0.50446	.	.	.	.	.	0.001452	0.00908	T	-0.333893	0.05823	T	-0.71739	0.04923	T	0.0084557951795491	0.00102	T	0.563244	0.19836	T	0.0642428	0.13609	0.09128216	0.21453	0.0642428	0.13609	0.09128216	0.21452	2.727	0.00027	T	.	.	0.046	0.00059	B	.;.	.;.	1.464343	0.18873	13.97	0.89844929437015786	0.19152	0.02988	0.07843	N	AEFDBCI	0.041598	0.06346	N	-1.19300097945347	0.05105	0.2319599	-1.04312973743705	0.08850	0.4372199	2.36115250011173E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.584449	0.35598	0	.	.	3.73	2.52	0.29514	-0.511000	0.06404	.	.	-0.096000	0.16002	0.000000	0.06391	0.000000	0.08366	0.432000	0.27494	0.5631:0.274:0.1628:0.0	5.411	0.15649	32	0.98147	Cadherin, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1522.11	146	chr5	140848613	.	G	A	1522.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.19;DP=2530;ExcessHet=0.1072;FS=1.159;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.14;MQRankSum=-6.435e+00;QD=4.70;ReadPosRankSum=0.165;SOR=0.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,29:163:99:0|1:140848597_C_G:814,0,5538:140848597	19	0	2	0
chr5	140848623	140848623	C	A	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.C128A:p.T43N	.	.	443	1034	37	8	0	53	0.0249882	.	.	2708536	not_specified|PCDHA9-related_disorder	MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.041	B	0.066	B	.	.	1.000	D	3.94	H	0.86	T	-0.451	T	0.158	T	0.383	3.815	19.37	3.73	2.051	2.379	16.078	0.160	.	0.0007	.	0.0065	0.0007	0.0050	0.0002	0.0012	0.0079	0.0090	0.0106	0.0010373	27	26028	rs186780543	0.0020	0.0040	0.0019	0.0022	0.0078	0.0020	0.0020	0.0059	0.0053	0.0005	0.0023	0.0118	0.0001	0.0010	0.0078	0.0016	0.0037	0.0049	0.0054	0.0076	0.0059	0.0049	0.0155	0.0051	0.0050	0.0126	0.0116	0.0008	0.0011	0.0072	0.0208	0	0.0011	0.0210	0.0074	0.0082	0.0155	0.01	0.57480	D	0.007	0.69154	D	0.02	0.21357	B	0.066	0.27432	B	.	.	.	.	1	0.81001	D	3.795	0.95366	H	0.86	0.46777	T	-4.79	0.80682	D	0.492	0.52563	-0.4510	0.70367	T	0.158	0.49043	T	9	0.010096908	0.00226	T	.	.	.	0.160	0.41473	.	.	0.657190473102	0.65432	0.714719429081555	0.71414	.	.	.	.	.	0.05186	0.28997	T	-0.0681011	0.41629	T	-0.335599	0.40841	T	0.188936567630157	0.19782	T	0.706229	0.32195	T	0.86958146	0.88828	0.8837174	0.93823	0.86958146	0.88830	0.8837174	0.93823	-12.312	0.86338	D	.	.	0.168	0.39865	B	.;.	.;.	3.811784	0.54986	23.6	0.98409677605635093	0.41159	0.70468	0.34603	D	AEFDBCI	0.520398	0.54527	D	-0.0215671095811526	0.40880	2.43543	-0.0540870625360181	0.37315	2.183088	0.999957572808903	0.48110	0.553676	0.25195	0	0.588015	0.36545	0	0.491614	0.08109	1	0.584449	0.35598	0	.	.	3.73	3.73	0.41982	2.076000	0.41172	.	.	0.545000	0.25583	0.003000	0.16062	0.000000	0.08366	0.779000	0.36868	0.0:1.0:0.0:0.0	16.078	0.80787	32	0.98147	Cadherin, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1300.11	146	chr5	140848623	.	C	A	1300.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.05;DP=2548;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.19;MQRankSum=-6.974e+00;QD=3.85;ReadPosRankSum=-6.260e-01;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,28:174:99:0|1:140848597_C_G:736,0,5918:140848597	19	0	2	0
chr5	141052976	141052976	T	G	exonic	PCDHB1	.	nonsynonymous SNV	PCDHB1:NM_013340:exon1:c.T1506G:p.F502L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.002	B	0.007	B	0.000	U	1.000	N	1.45	L	0.74	T	-1.014	T	0.090	T	0.219	2.052	12.82	-2.13	-0.229	-1.354	9.115	0.073	0.0148333928908	.	0.000199681	1.648e-05	0.0002	0	0	0	0	0	0	1.94e-05	3	154602	rs201337487	1.163e-05	1.163e-05	9.528e-06	1.375e-05	0.0004	7.08e-06	5.79e-06	0.0002	0.0002	0.0004	4.472e-05	0	0	0	0.0002	8.993e-07	1.656e-05	0	2.626e-05	2.625e-05	2.57e-05	2.685e-05	9.622e-05	8.14e-06	5.14e-06	3.242e-05	1.91e-05	9.622e-05	0	0	0	0	0	0	0	0	0	0.11	0.29158	T	0.168	0.30631	T	0.002	0.09854	B	0.007	0.12992	B	0.000454	0.44317	U	0.000000	0.999864	0.19989	N	0.595	0.15482	N	0.74	0.50459	T	-2.44	0.53420	N	0.367	0.40864	-1.0136	0.25784	T	0.090	0.34436	T	10	0.06678739	0.09212	T	0.014833	0.35199	T	0.073	0.21317	0.582	0.70861	0.350746614512	0.34690	0.1982535408841219	0.19742	1.27546691399	0.82394	0.597055077553	0.52488	T	0.005872	0.05316	T	-0.448408	0.01154	T	-0.602448	0.12606	T	0.0728370779845578	0.09043	T	0.522448	0.17034	T	0.13401051	0.31151	0.15794727	0.36909	0.13401051	0.31150	0.15794727	0.36908	-3.351	0.14404	T	.	.	0.795	0.77066	P	.	.	0.932267	0.13078	9.579	0.98294177069214839	0.39983	0.07137	0.13162	N	AEFBI	0.102043	0.20481	N	-0.839555521088072	0.12308	0.5991308	-0.781116501952321	0.14958	0.7843011	0.00597732982472728	0.11094	0.487112	0.14033	0	0.573888	0.26702	0	0.563428	0.18855	0	0.564101	0.26826	0	.	.	6.17	-2.13	0.06745	-2.264000	0.01255	.	.	-0.123000	0.13640	0.000000	0.06391	0.005000	0.19230	0.994000	0.71098	0.0:0.4576:0.1107:0.4317	9.115	0.35912	221	0.91431	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2767.98	35	chr5	141052976	.	T	G	2767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.482e+00;DP=909;ExcessHet=0.0000;FS=4.084;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-2.876e+00;SOR=0.980	GT:AD:DP:GQ:PL	0/1:90,106:196:99:2782,0,2403	20	0	1	0
chr5	141174246	141174246	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G1411C:p.G471R,	.	.	361	1128	33	0	0	33	0.0144168	.	.	2825306	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.1	T	1.0	D	1.0	D	.	.	1.000	N	3.055	M	3.61	T	-1.093	T	0.041	T	0.453	2.598	14.65	3.56	0.976	1.426	7.711	0.109	0.0164363675078	0.0031	0.00239617	0.0041	0.0005	0.0012	0	0.0014	0.0046	0.0055	0.0091	0.0036934	571	154602	rs71583630	0.0039	0.0039	0.0036	0.0042	0.0114	0.0038	0.0038	0.0090	0.0082	0.0009	0.0011	0.0103	2.519e-05	0.0020	0.0114	0.0037	0.0039	0.0089	0.0028	0.0028	0.0030	0.0026	0.0077	0.0026	0.0025	0.0057	0.0050	0.0006	0	0.0015	0.0092	0.0004	0.0013	0.0068	0.0041	0.0038	0.0077	0.008	0.58626	D	0.193	0.28210	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.08975	N	2.305	0.65957	M	3.61	0.04446	T	-7.82	0.95977	D	0.753	0.75192	-1.0933	0.05005	T	0.041	0.17488	T	9	0.014421403	0.00303	T	0.016436	0.37697	T	0.109	0.30843	.	.	0.501247319706	0.49760	0.39475670066175056	0.39390	0.497184019327	0.48212	0.66754424572	0.62487	T	0.103401	0.41202	T	-0.483557	0.00705	T	-0.461541	0.26431	T	0.0499114695675841	0.05485	T	0.814619	0.46840	T	0.659269	0.75860	0.68884367	0.81695	0.659269	0.75861	0.68884367	0.81696	-11.661	0.83161	D	.	.	0.732	0.74304	P	.	.	3.083277	0.41486	21.4	0.99835576582851426	0.91714	0.14876	0.18631	N	AEFDBI	0.129794	0.24810	N	0.345615472362603	0.58507	4.023498	0.187762801501309	0.49175	3.12396	0.0762146898005401	0.15720	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.44	3.56	0.39892	0.522000	0.22617	.	.	0.667000	0.69007	0.001000	0.13787	0.000000	0.08366	0.893000	0.43066	0.0857:0.0:0.7537:0.1606	7.711	0.27845	654	0.62520	Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	5141.98	292	chr5	141174246	.	G	C	5141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.474;DP=4122;ExcessHet=0.0000;FS=2.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.88;MQRankSum=0.102;QD=12.73;ReadPosRankSum=0.933;SOR=0.544	GT:AD:DP:GQ:PL	0/1:188,216:404:99:5156,0,4218	20	0	1	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.941	N	1.000	N	-1.57	N	-1.1	T	-1.019	T	0.099	T	0.051	-1.282	0.042	-1.96	-0.413	0.139	0.421	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:139,50,15:204:99:.:.:974,0,4522,358,4516,4911	1	0	13	5
chr5	141303079	141303079	C	T	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787A:p.V263I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.021	B	0.039	B	0.941	N	1.000	N	0.65	N	-1.23	T	-0.928	T	0.215	T	0.091	-0.151	3.259	-1.96	-0.413	0.139	0.421	0.147	0.0182275345159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.07944	T	0.363	0.16815	T	0.021	0.18474	B	0.039	0.23607	B	0.940851	0.07593	N	1.028430	0.999997	0.08975	N	0.5	0.13406	N	-1.23	0.78860	T	0.06	0.06253	N	0.045	0.01740	-0.9283	0.44386	T	0.215	0.57626	T	10	0.071314245	0.10496	T	0.018228	0.40224	T	0.147	0.38986	0.339	0.32979	0.359557344763	0.35564	0.08275398820863436	0.08210	0.147289003395	0.16616	0.28638151288	0.08398	T	0.161028	0.50511	T	-0.18769	0.22597	T	-0.50738	0.21586	T	0.0446509129349204	0.04539	T	0.0730927	0.00533	T	0.038403146	0.05108	0.028814076	0.01154	0.038403146	0.05108	0.028814076	0.01154	-4.133	0.25775	T	.	.	0.080	0.07745	B	.	.	1.381003	0.17922	13.45	0.53492033685486196	0.04950	0.27226	0.23218	N	AEFDBI	0.033857	0.04094	N	-0.96113578187942	0.09444	0.4469869	-0.958533915171557	0.10726	0.542049	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:139,50,15:204:99:.:.:974,0,4522,358,4516,4911	1	0	13	5
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.031	B	0.072	B	0.002	N	0.665	D	2.66	M	-1.43	T	-0.297	T	0.436	T	0.223	1.515	11.02	1.42	0.324	2.506	6.656	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	15997.73	187	chr5	141303081	.	A	G	15997.73	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.670e+00;DP=4433;ExcessHet=43.6797;FS=223.742;InbreedingCoeff=-0.9170;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.87;ReadPosRankSum=0.595;SOR=14.013	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:139,70:209:99:.:.:1138,0,4482	1	0	20	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	4374.45	280	chr5	141400463	.	A	G	4374.45	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-6.509e+00;DP=4902;ExcessHet=17.4423;FS=250.847;InbreedingCoeff=-0.5560;MLEAC=15;MLEAF=0.357;MQ=59.98;MQRankSum=0.00;QD=1.01;ReadPosRankSum=0.940;SOR=14.362	GT:AD:DP:GQ:PL	0/1:239,71:310:53:53,0,4767	6	0	15	0
chr5	141431463	141431463	C	T	exonic	PCDHGA12	.	nonsynonymous SNV	PCDHGA12:NM_003735:exon1:c.C704T:p.A235V	.	.	395	1093	30	4	0	38	0.0170863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.032	B	0.014	B	.	.	0.584	N	-0.2	N	4.02	T	-0.907	T	0.004	T	0.082	0.506	6.744	-5.55	-1.301	-4.181	9.928	0.014	.	0.0022	0.00399361	0.0051	0.0003	0.0026	0	0.0014	0.0036	0.0033	0.0198	0.0044372	686	154602	rs139195027	0.0036	0.0036	0.0030	0.0042	0.0200	0.0035	0.0035	0.0192	0.0189	0.0005	0.0018	0.0042	2.519e-05	0.0024	0.0054	0.0026	0.0039	0.0200	0.0027	0.0027	0.0024	0.0029	0.0205	0.0024	0.0024	0.0172	0.0160	0.0005	0	0.0033	0.0046	0.0004	0.0015	0.0034	0.0028	0.0047	0.0205	0.283	0.15354	T	0.178	0.29639	T	0.022	0.20242	B	0.01	0.16862	B	.	.	.	.	0.583734	0.31078	N	-0.31	0.03598	N	4.02	0.03178	T	-0.57	0.17210	N	0.042	0.01999	-0.9074	0.47168	T	0.004	0.01295	T	9	0.0067094862	0.00152	T	.	.	.	0.014	0.01968	.	.	0.220303561663	0.21668	0.12593832730350227	0.12519	.	.	.	.	.	0.003892	0.03302	T	-0.723327	0.00026	T	-0.796191	0.02000	T	0.00219904459130167	0.00023	T	0.815218	0.46991	T	0.03382852	0.03680	0.07829049	0.17522	0.03382852	0.03680	0.07829049	0.17522	-4.955	0.36425	T	.	.	0.086	0.10931	B	.;.	.;.	-1.299337	0.00439	0.009	0.94628708314761545	0.25214	0.02661	0.07276	N	AEFDGBHIJ	0.100983	0.20292	N	-1.54332638067758	0.01574	0.06876488	-1.58798993625364	0.01728	0.07858321	0.99999999807393	0.74766	0.580535	0.33130	0	0.296712	0.05252	1	0.576033	0.28219	0	0.372554	0.06265	0	.	.	4.7	-5.55	0.02336	-3.012000	0.00711	.	.	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.839000	0.39591	0.09:0.5164:0.0:0.3936	9.928	0.40672	818	0.41518	.;Cadherin conserved site|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3405.98	34	chr5	141431463	.	C	T	3405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.177e+00;DP=974;ExcessHet=0.0000;FS=3.634;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=-4.170e-01;SOR=0.775	GT:AD:DP:GQ:PL	0/1:104,131:235:99:3420,0,2573	20	0	1	0
chr5	141476855	141476855	T	C	exonic	PCDHGC3	.	nonsynonymous SNV	PCDHGC3:NM_002588:exon1:c.T739C:p.S247P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.552	P	0.157	B	.	.	1.000	N	0.195	N	0.13	T	-1.038	T	0.083	T	0.903	1.093	9.459	5.53	2.324	0.001	7.754	0.294	.	0.0015	0.00279553	0.0005	0.0057	0.0003	0	0	1.533e-05	0	0	0.0005239	81	154602	rs149491772	0.0002	0.0002	0.0002	0.0002	0.0060	0.0002	0.0001	0.0053	0.0051	0.0060	0.0003	0	0	0	0.0005	6.295e-06	0.0003	3.478e-05	0.0018	0.0018	0.0017	0.0018	0.0063	0.0016	0.0015	0.0057	0.0054	0.0063	0	0.0003	0	0	0	0	1.47e-05	0.0019	0	0.658	0.04728	T	0.424	0.13953	T	0.552	0.38158	P	0.157	0.34536	B	.	.	.	.	1	0.81001	D	0.5	0.13406	N	0.13	0.60973	T	0.55	0.02721	N	0.193	0.21188	-1.0380	0.17924	T	0.083	0.32527	T	9	0.004603654	0.00096	T	.	.	.	0.294	0.61388	.	.	0.8676364943	0.86635	0.5245559578135927	0.52379	0.875006280955	0.69535	.	.	.	0.028641	0.21682	T	-0.106712	0.35311	T	0.0773863	0.75403	D	0.0114167631788663	0.00170	T	0.726327	0.39447	T	0.15148138	0.34434	0.19018368	0.42407	0.15148138	0.34433	0.19018368	0.42407	-5.036	0.37228	T	.	.	0.110	0.29144	B	.;.;.	.;.;.	3.604358	0.50925	23.0	0.98674323976769862	0.44525	0.32043	0.24488	N	ALL	0.508244	0.53821	D	-0.426975314945102	0.24528	1.324991	-0.261993254611387	0.29361	1.644345	0.999999615934042	0.74766	0.72623	0.87236	0	0.748881	0.99253	0	0.594344	0.31042	0	0.71	0.69187	0	.	.	5.53	5.53	0.82530	0.216000	0.17370	.	.	0.665000	0.62972	0.039000	0.20931	1.000000	0.68203	0.999000	0.91618	0.1373:0.0:0.1433:0.7194	7.754	0.28076	770	0.49152	.;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2910.98	34	chr5	141476855	.	T	C	2910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.617;DP=1242;ExcessHet=0.0000;FS=2.293;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=1.70;SOR=0.555	GT:AD:DP:GQ:PL	0/1:107,111:218:99:2925,0,2716	20	0	1	0
chr5	142903567	142903567	T	C	exonic	ARHGAP26	.	nonsynonymous SNV	ARHGAP26:NM_001135608:exon8:c.T730C:p.S244P	Leukemia, juvenile myelomonocytic, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.998	D	0.000	D	1.000	D	2.39	M	3.64	T	-1.177	T	0.055	T	0.893	4.693	26.0	5.62	2.136	7.698	15.832	0.376	0.021308038366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.055	0.46862	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.365	0.68172	M	3.64	0.04309	T	-2.59	0.56787	D	0.766	0.77226	-1.1768	0.00419	T	0.055	0.23224	T	10	0.56307894	0.64897	D	0.021308	0.44059	T	0.376	0.69443	0.287	0.24601	0.689142853871	0.68647	0.8217060587566524	0.82127	0.921860370526	0.71489	0.809007108212	0.83340	D	0.276539	0.64913	T	0.190456	0.73006	D	0.0358006	0.72654	D	0.904159963130951	0.55754	D	0.864214	0.56163	D	0.79300255	0.83461	0.8051438	0.88593	0.79300255	0.83463	0.8051438	0.88593	-11.87	0.84468	D	.	.	0.861	0.80349	P	.;.;.;.;.	.;.;.;.;.	5.122988	0.85695	28.7	0.99890496872429047	0.96436	0.98339	0.81784	D	AEFBI	0.934208	0.92724	D	0.7846617391585	0.85137	8.487303	0.767949232188809	0.87493	9.240501	0.999999999997967	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	7.674000	0.83146	7.889000	0.72943	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.832	0.78534	855	0.34697	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1674.98	42	chr5	142903567	.	T	C	1674.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.430;DP=859;ExcessHet=0.0000;FS=1.316;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=0.700;SOR=0.854	GT:AD:DP:GQ:PL	0/1:75,70:145:99:1689,0,1805	20	0	1	0
chr5	150372138	150372138	C	T	exonic	TCOF1	.	nonsynonymous SNV	TCOF1:NM_001008657:exon7:c.C772T:p.P258S	Treacher Collins syndrome 1, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.752	P	0.273	B	0.693	N	1.000	N	0.69	N	1.47	T	-1.049	T	0.089	T	0.214	1.293	10.23	0.527	0.080	0.032	3.569	0.044	0.0221933302984	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1039544056	1.026e-05	1.026e-05	1.089e-05	9.625e-06	2.987e-05	6.16e-06	4.89e-06	7.31e-06	5.72e-06	2.987e-05	0	0	0	0	0	1.259e-05	0	0	1.314e-05	1.313e-05	2.569e-05	0	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.268	0.16683	T	0.478	0.38450	T	0.651	0.43309	P	0.273	0.40007	B	0.692844	0.10160	N	0.819944	1	0.19363	N	0.895	0.22405	L	0.09	0.61559	T	-0.14	0.09135	N	0.202	0.25499	-1.0489	0.14705	T	0.089	0.34298	T	10	0.049779117	0.04615	T	0.022193	0.45053	T	0.044	0.11924	0.193	0.10437	0.246926113748	0.24311	0.03788046648442814	0.03734	0.312491298076	0.33552	0.291013717651	0.09070	T	0.056735	0.30370	T	-0.180998	0.23589	T	-0.497768	0.22580	T	0.0669502800188603	0.08217	T	0.857714	0.57430	D	0.029240355	0.02388	0.03139156	0.01722	0.029240355	0.02388	0.03139156	0.01722	-3.468	0.17067	T	0.15087321040358315	0.17755	0.079	0.10691	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-0.127288	0.03481	0.651	0.77443961094755087	0.11878	0.09909	0.15556	N	AEFDBCI	0.039942	0.05873	N	-1.07173171280168	0.07168	0.332173	-1.15157814556767	0.06739	0.3254297	0.295418127308899	0.19133	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.16	0.527	0.16277	-0.242000	0.08945	-0.327000	0.09919	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5639:0.2153:0.2208:0.0	3.569	0.07462	851	0.35303	Treacle protein domain;.;Treacle protein domain;.;.;.;.;Treacle protein domain;Treacle protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1713.98	34	chr5	150372138	.	C	T	1713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.755;DP=845;ExcessHet=0.0000;FS=9.072;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.51;ReadPosRankSum=0.457;SOR=0.296	GT:AD:DP:GQ:PL	0/1:71,66:137:99:1728,0,1821	20	0	1	0
chr5	150848654	150848654	-	GT	exonic	IRGM	.	frameshift insertion	IRGM:NM_001145805:exon2:c.531_532insGT:p.C179Yfs*4	.	.	0	1520	1	1	0	3	0.000985869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.863e-05	0	0	0	0	0	0	0.0002	3.84e-05	1	26028	rs748111523	8.693e-06	8.893e-06	2.849e-06	1.474e-05	0.0002	4.64e-06	3.66e-06	8.946e-05	7.005e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1188.94	33	chr5	150848654	.	G	GGT	1188.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.459e+00;DP=780;ExcessHet=0.0000;FS=13.168;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.98;ReadPosRankSum=-1.126e+00;SOR=0.132	GT:AD:DP:GQ:PL	0/1:38,32:70:99:1203,0,1499	20	0	1	0
chr5	151347296	151347296	C	T	splicing	SLC36A2	NM_181776:exon1:c.164+1G>A	.	.	Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	.	0	1520	1	1	0	3	0.000985869	1.0000	0.936	17424	Hyperglycinuria|Iminoglycinuria	Human_Phenotype_Ontology:HP:0002931,Human_Phenotype_Ontology:HP:0003108,MONDO:MONDO:0007677,MedGen:C0543541,OMIM:138500|MONDO:MONDO:0009448,MedGen:C0268654,OMIM:242600,Orphanet:42062	no_assertion_criteria_provided	Affects	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.642	18.52	4.87	2.683	3.583	15.237	.	.	7.7e-05	.	4.119e-05	0	0.0002	0	0	2.997e-05	0	6.056e-05	3.23e-05	5	154602	rs371203963	3.831e-05	3.967e-05	4.084e-05	3.575e-05	0.0002	3.025e-05	2.719e-05	8.885e-05	7.053e-05	0	0.0001	0	0	0	0	3.058e-05	6.623e-05	0.0002	1.971e-05	1.97e-05	1.284e-05	2.69e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274132	0.80807	D	0.381697	0.91491	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.507795	0.91651	32	0.99422278671681674	0.63838	0.96598	0.69945	D	AEFDBI	.	.	.	1.05633129377782	0.97236	15.79918	0.891193416178046	0.95177	13.38058	0.999623028671497	0.41093	0.095506	0.02484	0	0.059962	0.00310	0	0.104817	0.03109	0	0.058706	0.01089	0	0.978378	0.82485	4.87	4.87	0.62877	3.933000	0.56257	7.253000	0.57936	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.237	0.73134	875	0.30485	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1018.98	34	chr5	151347296	.	C	T	1018.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=761;ExcessHet=0.0000;FS=0.906;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=2.07;SOR=0.823	GT:AD:DP:GQ:PL	0/1:35,38:73:99:1033,0,834	20	0	1	0
chr5	151563532	151563532	C	T	exonic	FAT2	.	nonsynonymous SNV	FAT2:NM_001447:exon3:c.G3367A:p.V1123I,	.	.	435	1084	2	1	0	4	0.00184162	.	.	3214847	FAT2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.27	T	0.827	P	0.399	B	0.001	N	1.000	D	1.34	L	0.23	T	-0.938	T	0.155	T	0.114	3.062	16.22	5.03	2.513	4.651	10.069	0.109	.	.	0.00199681	0.0010	0	0	0	0	4.496e-05	0	0.0071	0.0008861	137	154602	rs370598855	0.0004	0.0004	0.0003	0.0006	0.0067	0.0004	0.0004	0.0062	0.0061	2.987e-05	2.236e-05	0	0	0	0.0002	5.396e-06	0.0006	0.0067	0.0002	0.0002	0.0001	0.0003	0.0056	0.0001	0.0001	0.0040	0.0034	0	0	0	0	0	0	0	0	0.0009	0.0056	0.261	0.16520	T	0.237	0.24621	T	0.827	0.45966	P	0.399	0.44455	B	0.001229	0.39743	N	0.111367	0.999894	0.50595	D	1.905	0.50856	L	0.23	0.59717	T	-0.62	0.18248	N	0.238	0.26837	-0.9375	0.43010	T	0.155	0.48653	T	10	0.009363294	0.00211	T	.	.	.	0.109	0.30843	0.48	0.55983	0.667381685972	0.66457	0.27642236677095655	0.27555	0.296176561892	0.32004	0.355882287025	0.18784	T	0.072178	0.34391	T	-0.497094	0.00594	T	-0.483092	0.24118	T	0.0650132147436327	0.07933	T	0.781422	0.41649	T	0.065744154	0.14082	0.06776196	0.14062	0.065744154	0.14081	0.06776196	0.14061	-6.929	0.53514	T	.	.	0.086	0.10642	B	.	.	2.885932	0.38205	20.7	0.99700846322375436	0.80591	0.93590	0.58634	D	AEFDBI	0.418334	0.48601	N	0.333492564322779	0.57874	3.956693	0.402630669425897	0.61730	4.377132	0.999999999926571	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.478617	0.07155	0	.	.	5.03	5.03	0.67015	3.882000	0.55873	5.870000	0.50524	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8743:0.0:0.1257	10.069	0.41497	906	0.23090	Cadherin-like|Cadherin-like	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1851.98	37	chr5	151563532	.	C	T	1851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=954;ExcessHet=0.0000;FS=0.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=1.08;SOR=0.780	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,72:160:99:1|0:151563524_G_A:1866,0,3433:151563524	20	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.741	P	0.178	B	0.000	D	1.000	D	2	M	0.11	T	-0.790	T	0.177	T	0.375	3.984	20.4	5.18	1.567	5.717	15.162	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	2160.86	127	chr5	154834880	.	G	C	2160.86	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.995e+00;DP=2921;ExcessHet=17.4423;FS=258.744;InbreedingCoeff=-0.5414;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=0.501;SOR=12.076	GT:AD:DP:GQ:PL	0/1:104,32:145:14:14,0,2004	6	0	15	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	114730.68	413	chr5	157052557	.	C	*,CGTT	114730.68	.	AC=31,10;AF=0.738,0.238;AN=42;DP=11099;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=31,10;MLEAF=0.738,0.238;MQ=60.00;QD=11.64;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,245,308:553:99:.:.:24051,12609,11833,10033,0,8982	0	12	1	0
chr5	159161427	159161427	T	C	exonic	RNF145	.	nonsynonymous SNV	RNF145:NM_001199380:exon10:c.A1555G:p.I519V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.108	B	0.097	B	0.000	D	1.000	D	-1.295	N	-1.02	T	-0.786	T	0.155	T	0.597	2.173	13.22	5.78	2.210	7.930	16.109	0.348	0.0321084093921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.689	0.53172	T	1.0	0.01155	T	0.069	0.26116	B	0.057	0.30390	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.6	0.02229	N	-1.04	0.78427	T	-0.02	0.19085	N	0.487	0.54671	-0.7862	0.55950	T	0.155	0.48687	T	10	0.22028938	0.38722	T	0.032108	0.54021	D	0.348	0.66956	0.381	0.39807	0.848737276254	0.84728	0.5429635205572487	0.54221	1.5713921237	0.88187	0.809239268303	0.83376	D	0.025021	0.18789	T	0.0879092	0.62953	D	-0.111501	0.62491	T	0.599808037281036	0.36392	D	0.910909	0.68443	D	0.08185151	0.18826	0.14571664	0.34550	0.08185151	0.18826	0.14571664	0.34549	-4.068	0.29557	T	.	.	0.428	0.63300	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.659358	0.34646	19.68	0.97983499804003948	0.37341	0.94498	0.61359	D	AEFDBHCI	0.933662	0.92588	D	-0.253708838070544	0.30955	1.731042	0.0519839670437108	0.42167	2.54587	0.999999999999995	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	7.908000	0.86831	7.797000	0.69042	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.109	0.81055	893	0.26510	.;TRC8 N-terminal domain;TRC8 N-terminal domain;TRC8 N-terminal domain;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	63.82	96	chr5	159161427	.	T	C	63.82	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.326e+00;DP=1394;ExcessHet=0.1128;FS=106.775;InbreedingCoeff=-0.0524;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.855;SOR=9.855	GT:AD:DP:GQ:PL	0/1:109,26:135:20:20,0,2234	18	0	2	1
chr5	159320467	159320467	C	G	exonic	IL12B	.	nonsynonymous SNV	IL12B:NM_002187:exon5:c.G536C:p.R179T,	Immunodeficiency 29, mycobacteriosis, Autosomal recessive	.	2	1519	1	0	0	1	0.000329056	.	.	302790	Inborn_genetic_diseases|Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_IL12B_deficiency	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013954,MedGen:C4013948,OMIM:614890,Orphanet:319558	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.37	T	0.43	B	0.094	B	0.204	N	1.000	N	1.87	L	2.29	T	-1.079	T	0.033	T	0.146	1.039	9.244	-5.08	-1.037	-0.498	14.238	0.057	0.00424578013495	7.7e-05	.	0.0001	0	0	0	0	3e-05	0	0.0007	0.0001035	16	154602	rs375159171	0.0002	0.0002	0.0001	0.0002	0.0009	0.0002	0.0001	0.0007	0.0007	2.987e-05	0	0	0	0	0	0.0002	6.623e-05	0.0009	5.255e-05	5.253e-05	5.137e-05	5.378e-05	0.0008	2.556e-05	1.83e-05	0.0003	0.0002	0	0	0	0	0	0	0	5.88e-05	0	0.0008	0.07	0.35349	T	0.082	0.41573	T	0.43	0.35583	B	0.094	0.30180	B	0.204259	0.16523	N	0.645050	1	0.08975	N	1.995	0.54099	M	2.29	0.17113	T	-0.68	0.19509	N	0.125	0.11769	-1.0785	0.07641	T	0.033	0.13986	T	10	0.029841095	0.01110	T	0.004246	0.10247	T	0.057	0.16321	.	.	0.347659731818	0.34379	0.49860020188887366	0.49781	0.446975830528	0.44561	0.343023359776	0.16890	T	0.142827	0.47862	T	-0.59372	0.00159	T	-0.686212	0.06610	T	0.0451979115605354	0.04639	T	0.770723	0.40088	T	0.08340663	0.19259	0.08230905	0.18774	0.08340663	0.19259	0.08230905	0.18773	-4.052	0.24579	T	.	.	0.074	0.05060	B	.	.	-0.472964	0.01955	0.168	0.90297841231701914	0.19565	0.08130	0.14097	N	AEFGBCI	0.104374	0.20885	N	-0.948843111246618	0.09718	0.4612042	-1.10601413370787	0.07585	0.369506	0.999363052286429	0.39301	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.37	-5.08	0.02708	-0.460000	0.06797	-3.296000	0.02898	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.17:0.0:0.83	14.238	0.65484	892	0.26670	Interleukin-12 beta, central domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2233.98	36	chr5	159320467	.	C	G	2233.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.176e+00;DP=854;ExcessHet=0.0000;FS=5.022;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=-8.970e-01;SOR=1.144	GT:AD:DP:GQ:PL	0/1:81,84:165:99:2248,0,2206	20	0	1	0
chr5	169654449	169654449	G	C	exonic	DOCK2	.	nonsynonymous SNV	DOCK2:NM_004946:exon2:c.G90C:p.Q30H,	Immunodeficiency 40, Autosomal recessive	.	424	1095	3	0	0	3	0.00136799	.	.	521515	DOCK2-related_disorder|not_provided|DOCK2_deficiency	.|MedGen:C3661900|MONDO:MONDO:0014637,MedGen:C4225328,OMIM:616433,Orphanet:447737	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.22	T	0.0	B	0.001	B	0.000	D	1.000	D	1.23	L	3.08	T	-1.018	T	0.013	T	0.354	1.782	11.92	3.98	1.465	0.956	7.728	0.106	0.00594725775044	0.0017	0.00179712	0.0010	0.0041	0.0023	0	0	0.0007	0.0011	0.0001	0.0010802	167	154602	rs141894939	0.0010	0.0010	0.0010	0.0010	0.0078	0.0010	0.0009	0.0060	0.0054	0.0049	0.0032	3.826e-05	0	1.872e-05	0.0078	0.0009	0.0019	0.0001	0.0022	0.0022	0.0022	0.0021	0.0049	0.0020	0.0019	0.0043	0.0041	0.0049	0	0.0048	0	0	0	0.0068	0.0007	0.0014	0	0.08	0.33585	T	0.117	0.36365	T	0.0	0.02946	B	0.001	0.04355	B	0.000440	0.44522	D	0.234721	0.687	0.30229	N	1.435	0.35949	L	3.08	0.08460	T	-1.9	0.44284	N	0.38	0.42149	-1.0181	0.24334	T	0.013	0.05129	T	10	0.007919282	0.00180	T	0.005947	0.15520	T	0.106	0.30130	0.485	0.56780	0.411411441165	0.40760	0.5606701927308603	0.55994	0.505824996548	0.48811	0.489240825176	0.37332	T	0.135027	0.46661	T	-0.524503	0.00414	T	-0.523855	0.19905	T	0.00969946994709612	0.00127	T	0.858514	0.54939	D	0.32834172	0.55335	0.15048006	0.35488	0.34308392	0.56524	0.16156124	0.37572	-5.494	0.41812	T	.	.	0.166	0.36673	B	.;.	.;.	2.660484	0.34663	19.69	0.98584834801498467	0.43284	0.77525	0.38127	D	AEFDBI	0.215030	0.34043	N	-0.272459149024142	0.30215	1.682725	-0.128720270742409	0.34238	1.967188	0.999996169750181	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.82	3.98	0.45383	1.453000	0.34778	4.469000	0.43488	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.221000	0.22489	0.0832:0.0:0.757:0.1598	7.728	0.27939	871	0.31377	SH3 domain|SH3 domain;SH3 domain|SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	931.98	36	chr5	169654449	.	G	C	931.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.661;DP=807;ExcessHet=0.0000;FS=4.140;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=-9.180e-01;SOR=1.218	GT:AD:DP:GQ:PL	0/1:50,38:88:99:946,0,1268	20	0	1	0
chr5	179032409	179032409	G	A	exonic	ZNF879	.	nonsynonymous SNV	ZNF879:NM_001353374:exon4:c.G461A:p.S154N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.0	B	0.0	B	.	.	1.000	D	1.47	L	3.28	T	-0.967	T	0.013	T	0.023	0.281	5.520	0.612	-0.012	-0.309	1.080	0.081	0.00127541074409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.12632	T	0.521	0.10429	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999855	0.20048	N	1.08	0.27187	L	3.28	0.06523	T	-0.97	0.25770	N	0.018	0.00252	-0.9668	0.37854	T	0.013	0.05273	T	9	0.03626585	0.01917	T	0.001275	0.01733	T	0.081	0.23632	0.307	0.27806	0.0482279557977	0.04254	0.03370360156343105	0.03318	0.120126733266	0.13526	0.303271383047	0.10889	T	0.001988	0.01394	T	-0.400713	0.02290	T	-0.813373	0.01590	T	0.0349573503527798	0.02800	T	0.0447955	0.00316	T	0.045567982	0.07481	0.05934759	0.11122	0.045567982	0.07481	0.05934759	0.11121	-4.588	0.32020	T	.	.	0.070	0.03552	B	.	.	1.039843	0.14203	10.78	0.69288680274115944	0.08925	0.12509	0.17312	N	AEFBCI	.	.	.	-0.716800936270708	0.15550	0.7846029	-0.71102006232121	0.16686	0.8838936	0.0124876779663373	0.12334	0.562547	0.31514	0	0.573888	0.26702	0	0.54472	0.12158	0	0.635551	0.53088	0	.	.	4.59	0.612	0.16768	0.139000	0.15858	-1.111000	0.06297	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.991000	0.66497	0.2717:0.1538:0.4169:0.1576	1.080	0.01539	625	0.65529	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02778	64.09	90	chr5	179032409	.	G	A	64.09	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.774e+00;DP=1740;ExcessHet=0.0000;FS=152.580;InbreedingCoeff=-0.0636;MLEAC=1;MLEAF=0.028;MQ=60.00;MQRankSum=0.00;QD=0.65;ReadPosRankSum=1.65;SOR=7.784	GT:AD:DP:GQ:PL	0/1:72,27:99:77:77,0,1521	17	0	1	3
chr5	179522611	179522615	CATTG	-	exonic	C5orf60	.	frameshift deletion	C5orf60:NM_001142306:exon1:c.129_133del:p.I44Vfs*30	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1300272109	1.283e-05	0.0005	1.904e-05	6.86e-06	5.518e-05	6.88e-06	5.03e-06	8.38e-06	6.11e-06	5.518e-05	0	0	0	0	0	1.659e-05	0	0	1.595e-05	0.0018	0	3.275e-05	7.351e-05	2.65e-06	9.9e-07	.	.	0	0	7.351e-05	0	0	0	0	1.725e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	71.29	33	chr5	179522610	.	TCATTG	T	71.29	.	AC=2;AF=0.053;AN=38;DP=1020;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.7330;MLEAC=1;MLEAF=0.026;MQ=36.12;QD=28.68;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0	18	1	0	2
chr5	179522611	179522611	C	0	exonic	C5orf60	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	21034.34	33	chr5	179522611	.	C	T,*	21034.34	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=-1.750e-01;DP=1073;ExcessHet=0.0378;FS=0.561;InbreedingCoeff=0.3964;MLEAC=13,1;MLEAF=0.361,0.028;MQ=58.35;MQRankSum=1.99;QD=28.08;ReadPosRankSum=-4.950e-01;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,2:2:6:.:.:90,90,90,6,6,0	9	3	5	3
chr5	179522612	179522612	A	0	exonic	C5orf60	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	21034.34	33	chr5	179522612	.	A	G,*	21034.34	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=1.64;DP=1065;ExcessHet=0.0378;FS=0.561;InbreedingCoeff=0.3964;MLEAC=13,1;MLEAF=0.361,0.028;MQ=58.37;MQRankSum=1.99;QD=28.08;ReadPosRankSum=-4.910e-01;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,2:2:6:.:.:90,90,90,6,6,0	9	3	5	3
chr5	180574061	180574061	A	G	exonic	CNOT6	.	nonsynonymous SNV	CNOT6:NM_001370474:exon11:c.A1250G:p.H417R	.	.	427	1083	12	0	0	12	0.00550964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.004	B	0.000	D	1.000	D	0.85	L	1.59	T	-1.090	T	0.059	T	0.668	1.532	11.07	5.85	2.233	9.339	16.244	0.193	0.0208087517736	0.0015	0.000399361	0.0015	0.0004	0.0006	0	0.0003	0.0024	0	0.0002	0.0014036	217	154602	rs139424567	0.0016	0.0016	0.0015	0.0016	0.0017	0.0015	0.0015	0.0016	0.0016	0.0002	0.0012	0.0077	0	0.0006	0.0014	0.0017	0.0017	0.0001	0.0013	0.0013	0.0013	0.0013	0.0021	0.0011	0.0011	0.0018	0.0017	0.0004	0.0011	0.0008	0.0049	0	0.0008	0	0.0021	0.0014	0	0.317	0.13699	T	0.358	0.17064	T	0.0	0.02946	B	0.004	0.10090	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.15	0.29295	L	1.59	0.28836	T	-0.91	0.24460	N	0.512	0.54322	-1.0896	0.05599	T	0.059	0.24908	T	9	0.009315789	0.00210	T	0.020809	0.43476	T	0.193	0.47281	.	.	0.366659145958	0.36277	0.6712581820256988	0.67063	0.743848610129	0.63409	0.625064492226	0.56445	T	0.167827	0.51461	T	-0.311988	0.07574	T	-0.227402	0.52024	T	0.0718105833365121	0.08903	T	0.950905	0.81262	D	0.19565545	0.41362	0.23931311	0.49276	0.19565545	0.41362	0.23931311	0.49275	-6.905	0.53336	T	.	.	0.074	0.04932	B	.;.;.	.;.;.	3.162884	0.42862	21.6	0.97308835024034535	0.33318	0.99618	0.98039	D	AEFBI	0.909336	0.86584	D	0.0733820767827466	0.45224	2.782535	0.296939908556884	0.55361	3.699148	0.999999999934066	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.85	5.85	0.93663	9.325000	0.96006	9.281000	0.79714	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.244	0.82257	952	0.10565	Endonuclease/exonuclease/phosphatase|CCR4-NOT transcription complex subunit 6;Endonuclease/exonuclease/phosphatase|CCR4-NOT transcription complex subunit 6;Endonuclease/exonuclease/phosphatase|CCR4-NOT transcription complex subunit 6	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1968.98	34	chr5	180574061	.	A	G	1968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.340e-01;DP=859;ExcessHet=0.0000;FS=1.196;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=-1.384e+00;SOR=0.591	GT:AD:DP:GQ:PL	0/1:81,89:170:99:1983,0,1876	20	0	1	0
chr5	180628897	180628897	G	A	exonic	FLT4	.	nonsynonymous SNV	FLT4:NM_001354989:exon8:c.C1088T:p.P363L	Hemangioma, capillary infantile, somatic;Lymphedema, hereditary, IA, Autosomal dominant	.	1	1517	4	0	0	4	0.00131666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.038	B	0.009	B	.	.	0.925	D	0.55	N	2.74	T	-1.021	T	0.020	T	0.279	-0.260	2.753	2.89	0.516	0.725	5.311	0.019	0.00693439100208	.	.	7.722e-05	0	8.754e-05	0	0	0.0001	0	0	5.82e-05	9	154602	rs768687155	5.012e-05	5.27e-05	3.827e-05	6.209e-05	0.0010	4.074e-05	3.748e-05	0.0005	0.0003	0.0001	0.0001	0	2.522e-05	3.891e-05	0.0010	4.058e-05	0.0001	2.321e-05	4.601e-05	4.597e-05	6.424e-05	2.692e-05	6.545e-05	2.11e-05	1.527e-05	1.973e-05	1.125e-05	4.826e-05	0	6.545e-05	0	0	0	0	5.883e-05	0	0	0.084	0.33923	T	0.349	0.17910	T	0.003	0.11197	B	0.009	0.14300	B	.	.	.	.	0.925484	0.36806	D	0.995	0.25082	L	2.74	0.11730	T	-3.31	0.69950	D	0.369	0.41063	-1.0212	0.23324	T	0.020	0.08220	T	9	0.19371101	0.35152	T	0.006934	0.18345	T	0.019	0.03383	0.516	0.61611	0.043077524339	0.03247	0.7291414478860127	0.72859	0.621399424811	0.56427	0.373812913895	0.21377	T	0.521805	0.83291	D	-0.413527	0.01883	T	-0.576734	0.14838	T	0.00806759057935528	0.00096	T	0.718928	0.33194	T	0.0631857	0.13278	0.06952169	0.14658	0.0631857	0.13278	0.06952169	0.14657	-5.954	0.45892	T	0.1016238104551862	0.07633	0.087	0.11124	B	.;.;.	.;.;.	1.478909	0.19040	14.06	0.80821148914737484	0.13385	0.15148	0.18768	N	AEFDBI	0.127344	0.24466	N	-1.01860095612668	0.08217	0.384541	-0.997973613932974	0.09831	0.4913998	0.139347472738265	0.17243	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.68	2.89	0.32713	1.037000	0.29850	3.915000	0.40434	-0.123000	0.13640	0.391000	0.26096	1.000000	0.68203	0.002000	0.04165	0.1545:0.0:0.573:0.2725	5.311	0.15137	878	0.29785	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1240.98	39	chr5	180628897	.	G	A	1240.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.782;DP=1049;ExcessHet=0.0000;FS=0.754;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=-4.750e-01;SOR=0.598	GT:AD:DP:GQ:PL	0/1:51,53:104:99:1255,0,1104	20	0	1	0
chr6	7910699	7910701	CAG	-	exonic	TXNDC5	.	nonframeshift deletion	TXNDC5:NM_030810:exon1:c.76_78del:p.L26del,	.	.	407	1088	27	0	0	27	0.012256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0212	0.0172	0	.	.	0	0	0.0417	6.5e-06	1	154602	rs775841007	0.0006	0.0059	0.0005	0.0008	0.0063	0.0006	0.0006	0.0044	0.0038	0.0007	0.0063	0.0012	0.0022	0.0033	0.0014	0.0005	0.0008	0.0023	2.708e-05	0.0002	2.641e-05	2.778e-05	6.034e-05	8.33e-06	5.27e-06	2.008e-05	1.148e-05	0	0	0	0	0	0	0	6.034e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	89.68	19	chr6	7910698	.	CCAG	C	89.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.53;DP=625;ExcessHet=0.3300;FS=1.982;InbreedingCoeff=-0.0761;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=3.45;ReadPosRankSum=1.27;SOR=1.292	GT:AD:DP:GQ:PL	0/1:7,2:9:63:63,0,282	18	0	3	0
chr6	16327687	16327687	-	TGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCAGCAGCA:p.Q208_H209insQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/2:28,0,22,0,0,0:50:99:1479,1473,3240,0,1217,1980,1395,3166,1210,3160,1473,3240,1217,3166,3240,975,2769,1179,2695,2769,2728	9	0	3	0
chr6	16327687	16327687	-	TGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCA:p.Q208_H209insQ	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/2:28,0,22,0,0,0:50:99:1479,1473,3240,0,1217,1980,1395,3166,1210,3160,1473,3240,1217,3166,3240,975,2769,1179,2695,2769,2728	9	0	3	0
chr6	16327687	16327687	-	TGCTGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCAGCAGCAGCA:p.Q208_H209insQQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/2:28,0,22,0,0,0:50:99:1479,1473,3240,0,1217,1980,1395,3166,1210,3160,1473,3240,1217,3166,3240,975,2769,1179,2695,2769,2728	9	0	3	0
chr6	16328014	16328014	G	A	exonic	ATXN1	.	nonsynonymous SNV	ATXN1:NM_001357857:exon8:c.C268T:p.H90Y,	Spinocerebellar ataxia 1, Autosomal dominant	.	0	1514	8	0	0	8	0.00263505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00239617	0.0016	0	0.0002	0.0109	0.0023	0.0009	0.0056	0.0010	0.001423	220	154602	rs148765123	0.0008	0.0008	0.0007	0.0009	0.0127	0.0007	0.0007	0.0118	0.0114	2.987e-05	2.237e-05	0	0.0127	0.0024	0.0014	0.0003	0.0011	0.0013	0.0009	0.0009	0.0008	0.0010	0.0106	0.0008	0.0007	0.0084	0.0076	2.408e-05	0	0	0	0.0106	0.0019	0.0034	0.0008	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.868271	0.28247	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008736819	0.00198	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.53253	B	.	.	1.124685	0.15109	11.59	0.57719748383112635	0.05832	0.88445	0.48376	D	AEFDBI	0.008599	0.00042	N	.	.	.	.	.	.	0.684987258026002	0.22522	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.24	3.07	0.34476	0.994000	0.29294	4.187000	0.42377	-0.241000	0.07509	1.000000	0.71638	1.000000	0.68203	0.019000	0.11356	0.1337:0.1486:0.5666:0.1511	4.118	0.09560	708	0.56926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1954.98	58	chr6	16328014	.	G	A	1954.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.350e-01;DP=1141;ExcessHet=0.0000;FS=0.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=-4.110e-01;SOR=0.776	GT:AD:DP:GQ:PL	0/1:72,73:145:99:1969,0,2002	20	0	1	0
chr6	17834062	17834062	C	T	exonic	KIF13A	.	nonsynonymous SNV	KIF13A:NM_001105566:exon12:c.G1165A:p.A389T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.934	P	0.642	P	0.000	D	1.000	D	0.6	N	-0.63	T	-0.815	T	0.203	T	0.616	4.617	25.2	5.62	2.639	7.776	19.672	0.269	0.0399943940101	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1452000005	7.064e-07	7.531e-06	0	1.419e-06	9.149e-07	0	0	.	.	0	0	0	0	0	0	9.149e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.16144	T	0.464	0.13912	T	0.934	0.52202	P	0.517	0.52168	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.32	0.33002	L	-0.63	0.72125	T	-1.65	0.39503	N	0.434	0.49146	-0.8145	0.54275	T	0.203	0.56031	T	10	0.2964295	0.47208	T	0.039994	0.59127	D	0.269	0.58381	0.183	0.09131	0.409337501531	0.40548	0.6612699681032546	0.66063	0.512778458504	0.49301	0.762370824814	0.76282	T	0.019713	0.15652	T	0.0651563	0.60254	T	-0.144184	0.59753	T	0.822717905044556	0.47975	D	0.866613	0.57273	D	0.2225743	0.44859	0.22889775	0.47945	0.2225743	0.44859	0.22889775	0.47944	-8.522	0.64647	D	.	.	0.235	0.65850	B	.;.;.;.;.	.;.;.;.;.	4.140686	0.62030	24.4	0.99861159657454024	0.94002	0.98360	0.81988	D	AEFBI	0.908276	0.86338	D	0.177284286709842	0.50109	3.204167	0.353092635159353	0.58693	4.04152	0.999999999999945	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.62	5.62	0.85714	5.012000	0.63775	5.974000	0.52050	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.672	0.95909	594	0.68584	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	30.64	48	chr6	17834062	.	C	T	30.64	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.679e+00;DP=1181;ExcessHet=0.1072;FS=281.700;InbreedingCoeff=-0.0471;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.22;ReadPosRankSum=0.879;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,12:73:42:0|1:17834062_C_T:42,0,2286:17834062	19	0	2	0
chr6	17834063	17834063	C	G	exonic	KIF13A	.	nonsynonymous SNV	KIF13A:NM_001105566:exon12:c.G1164C:p.K388N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.961	D	0.000	D	1.000	D	1.78	L	-0.69	T	-0.384	T	0.332	T	0.23	3.631	18.47	3.84	1.373	1.221	8.883	0.247	0.0686083631907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.44694	D	0.049	0.49120	D	0.999	0.77913	D	0.961	0.70482	D	0.000000	0.84330	D	0.000000	0.999921	0.51308	D	1.955	0.52871	M	-0.69	0.72785	T	-3.33	0.66206	D	0.554	0.61511	-0.3841	0.72524	T	0.332	0.69952	T	10	0.37474382	0.53745	T	0.068608	0.70499	D	0.247	0.55478	0.263	0.20788	0.73115622728	0.72876	0.738330941809585	0.73778	0.942097086966	0.72248	0.856371760368	0.90572	D	0.181262	0.53288	T	-0.0557371	0.43570	T	-0.317839	0.42812	T	0.987234175205231	0.77770	D	0.928207	0.73493	D	0.54704165	0.69790	0.3287603	0.58762	0.54704165	0.69791	0.3287603	0.58761	-9.018	0.67826	D	.	.	0.779	0.86668	P	.;.;.;.;.	.;.;.;.;.	3.242571	0.44271	21.9	0.99861958421083385	0.94002	0.93140	0.57430	D	AEFBI	0.509592	0.53899	D	0.268245999491333	0.54547	3.619969	0.289182497646197	0.54906	3.65448	0.992618420883153	0.32904	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.62	3.84	0.43422	0.696000	0.25220	1.117000	0.24210	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.0:0.7779:0.0:0.2221	8.883	0.34546	594	0.68584	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	30.65	48	chr6	17834063	.	C	G	30.65	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.904e+00;DP=1170;ExcessHet=0.1072;FS=281.700;InbreedingCoeff=-0.0472;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.22;ReadPosRankSum=1.01;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,12:73:42:0|1:17834062_C_T:42,0,2286:17834062	19	0	2	0
chr6	18161415	18161415	C	T	exonic	KDM1B	.	nonsynonymous SNV	KDM1B:NM_001364614:exon4:c.C176T:p.T59M	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.487	P	0.038	B	0.035	N	1.000	D	1.61	L	1.49	T	-1.102	T	0.035	T	0.372	3.684	18.72	4.91	1.445	5.487	14.934	0.065	0.0156215128554	7.7e-05	0.000399361	0.0002	9.615e-05	0.0002	0.0003	0.0005	0.0002	0	6.066e-05	0.0001552	24	154602	rs146369504	9.988e-05	0.0001	7.351e-05	0.0001	0.0005	8.646e-05	8.135e-05	0.0001	7.541e-05	0.0002	0.0001	0.0008	0.0002	0.0003	0.0005	6.745e-05	0.0001	3.478e-05	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0001	0.0004	0.0002	0.0002	0	0.0005	0.0012	0.0010	0.0006	0	7.35e-05	0.0005	0	0.008	0.58626	D	0.02	0.58613	D	.	.	.	.	.	.	0.034748	0.24730	N	0.425927	0.539634	0.81001	D	1.935	0.51832	L	1.46	0.32238	T	-1.1	0.28497	N	0.213	0.23758	-1.1016	0.03903	T	0.035	0.15291	T	10	0.030314624	0.01158	T	0.015622	0.36454	T	0.065	0.18881	.	.	0.200294437569	0.19612	0.3945655587033998	0.39371	0.732726945152	0.62802	0.449140489101	0.31826	T	.	.	.	-0.286514	0.09989	T	-0.34901	0.39319	T	0.062014701560909	0.07482	T	0.939106	0.77861	D	.	.	.	.	.	.	.	.	-5.919	0.45596	T	.	.	0.089	0.28693	B	.;.	.;.	4.859708	0.79517	27.1	0.99823081339797204	0.90590	0.89909	0.50687	D	AEFBI	0.199426	0.32622	N	0.0074079881742256	0.42191	2.537533	0.0706684706042384	0.43082	2.617364	0.999999722407607	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.78	4.91	0.63897	5.823000	0.68956	7.698000	0.66136	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	0.0:0.9315:0.0:0.0685	14.934	0.70589	748	0.52143	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1971.98	38	chr6	18161415	.	C	T	1971.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.889;DP=949;ExcessHet=0.0000;FS=0.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=1.80;SOR=0.773	GT:AD:DP:GQ:PL	0/1:93,84:177:99:1986,0,2142	20	0	1	0
chr6	24145554	24145554	C	G	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196G:p.L66V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.946	D	0.000	D	1.000	D	2.015	M	2.04	T	-1.026	T	0.105	T	0.742	3.788	19.23	5.46	2.571	5.817	19.326	0.159	0.0244498327376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	0.997	0.70673	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.995	0.54099	M	2.04	0.38397	T	-1.04	0.27259	N	0.598	0.61680	-1.0261	0.21723	T	0.105	0.38341	T	10	0.38316447	0.54345	T	0.02445	0.47438	T	0.159	0.41286	0.222	0.14518	0.592685350901	0.58946	0.5903367191441313	0.58963	1.01389843922	0.74865	0.620901226997	0.55857	T	0.070066	0.33867	T	0.0642638	0.60145	T	-0.145466	0.59643	T	0.947459578514099	0.62685	D	0.808619	0.45852	T	0.4937834	0.66727	0.37499517	0.62653	0.4937834	0.66728	0.37499517	0.62652	-4.546	0.31486	T	.	.	0.126	0.27222	B	.;.;.	.;.;.	4.497323	0.70306	25.5	0.99826269118642064	0.90852	0.95160	0.63658	D	AEFBCI	0.809917	0.73329	D	0.709881601940465	0.80282	7.259509	0.688265315290989	0.81488	7.538295	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4474	3322.42	61	chr6	24145554	.	C	G,T	3322.42	.	AC=6,11;AF=0.158,0.289;AN=38;BaseQRankSum=-1.663e+00;DP=1570;ExcessHet=25.1139;FS=225.828;InbreedingCoeff=-0.7530;MLEAC=6,12;MLEAF=0.158,0.316;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=0.280;SOR=12.310	GT:AD:DP:GQ:PL	0/2:65,0,24:89:13:13,191,1260,0,1069,1007	2	0	6	2
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.989	D	0.000	D	1.000	D	2.36	M	2.04	T	-0.937	T	0.125	T	0.77	4.052	20.8	5.46	2.571	5.817	19.326	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4474	3322.42	61	chr6	24145554	.	C	G,T	3322.42	.	AC=6,11;AF=0.158,0.289;AN=38;BaseQRankSum=-1.663e+00;DP=1570;ExcessHet=25.1139;FS=225.828;InbreedingCoeff=-0.7530;MLEAC=6,12;MLEAF=0.158,0.316;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=0.280;SOR=12.310	GT:AD:DP:GQ:PL	0/2:65,0,24:89:13:13,191,1260,0,1069,1007	2	0	6	2
chr6	25701256	25701256	G	A	exonic	SCGN	.	nonsynonymous SNV	SCGN:NM_006998:exon11:c.G752A:p.R251H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.013	B	0.004	B	0.040	N	1.000	D	1.32	L	0.68	T	-1.071	T	0.054	T	0.039	2.697	14.98	4.56	1.266	2.120	9.614	0.060	.	0.0036	0.00539137	0.0012	0.0113	0.0016	0.0001	0	9.008e-05	0	0	0.0011837	183	154602	rs150785850	0.0004	0.0004	0.0004	0.0003	0.0094	0.0003	0.0003	0.0086	0.0083	0.0094	0.0016	0	0	0	0.0029	8.545e-05	0.0008	2.323e-05	0.0030	0.0030	0.0032	0.0028	0.0101	0.0027	0.0027	0.0093	0.0090	0.0101	0	0.0013	0.0003	0	0	0	0.0001	0.0014	0	0.062	0.36912	T	0.163	0.31125	T	0.013	0.16609	B	0.004	0.10090	B	0.040436	0.24059	N	0.485323	0.741307	0.81001	D	1.175	0.29870	L	0.68	0.51952	T	-1.66	0.39692	N	0.056	0.02759	-1.0709	0.09216	T	0.054	0.22959	T	10	0.008556098	0.00194	T	.	.	.	0.060	0.17295	.	.	0.41859458845	0.41473	0.304117569600805	0.30324	0.291961028145	0.31603	0.295809477568	0.09779	T	0.009357	0.08525	T	-0.615129	0.00118	T	-0.645336	0.09285	T	0.0204323412007538	0.00743	T	0.887611	0.61581	D	0.049074404	0.08656	0.047929056	0.07013	0.049074404	0.08656	0.047929056	0.07012	-5.439	0.41293	T	.	.	0.068	0.02639	B	.	.	3.118467	0.42087	21.5	0.99594474743464245	0.73807	0.82344	0.41586	D	AEFBHI	0.491158	0.52833	N	-0.135290454390933	0.35863	2.065382	0.0260133874785274	0.40926	2.450375	0.262359417582818	0.18804	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.43	4.56	0.55644	2.155000	0.41926	3.117000	0.36384	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.996000	0.76049	0.1631:0.0:0.8369:0.0	9.614	0.38846	646	0.63441	EF-hand domain|EF-hand domain|Secretagogin, EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1672.98	34	chr6	25701256	.	G	A	1672.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.317;DP=846;ExcessHet=0.0000;FS=1.985;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-1.813e+00;SOR=0.858	GT:AD:DP:GQ:PL	0/1:83,74:157:99:1687,0,1873	20	0	1	0
chr6	26055825	26055825	C	T	exonic	H1-2	.	nonsynonymous SNV	H1-2:NM_005319:exon1:c.G604A:p.V202I,	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.025	B	0.022	B	0.253	N	0.820	D	0	N	2.37	T	-0.984	T	0.010	T	0.398	3.367	17.35	4.42	1.337	0.584	14.566	0.084	0.00370373706544	0.0024	0.00139776	0.0007	0.0071	0.0007	0	0	6.002e-05	0	0	0.0006274	97	154602	rs140525474	0.0002	0.0002	0.0003	0.0002	0.0065	0.0002	0.0002	0.0058	0.0055	0.0065	0.0006	0	5.04e-05	0	0.0012	4.14e-05	0.0004	3.499e-05	0.0020	0.0020	0.0021	0.0020	0.0069	0.0018	0.0018	0.0062	0.0059	0.0069	0	0.0010	0	0.0002	0	0	8.82e-05	0.0014	0	0.317	0.13699	T	0.059	0.45961	T	0.025	0.19245	B	0.022	0.19653	B	0.253035	0.15469	N	0.594745	0.819616	0.34757	D	1.81	0.47622	L	2.37	0.15964	T	-0.34	0.12661	N	0.322	0.36254	-0.9840	0.34069	T	0.010	0.03856	T	10	0.003214866	0.00055	T	0.003704	0.08558	T	0.084	0.24469	.	.	0.222439326576	0.21863	0.0017956464967741489	0.00166	.	.	0.295656532049	0.09754	T	0.199444	0.55673	T	-0.503109	0.00549	T	-0.491173	0.23268	T	0.0230919841064247	0.01035	T	0.309669	0.06003	T	0.06657746	0.14337	0.089286126	0.20871	0.06657746	0.14336	0.089286126	0.20870	-7.45	0.57258	T	.	.	0.103	0.18456	B	.	.	2.287425	0.29252	18.06	0.99317623973832181	0.59241	0.02326	0.06662	N	AEFDBHCIJ	0.440491	0.49903	N	-0.587847866481327	0.19312	1.009783	-0.434321341295746	0.23996	1.311653	0.999999999999994	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	5.31	4.42	0.52775	0.544000	0.22960	0.030000	0.13718	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.978000	0.57271	0.1475:0.8524:0.0:0.0	14.566	0.67768	455	0.79073	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	777.98	43	chr6	26055825	.	C	T	777.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.100e-02;DP=765;ExcessHet=0.0000;FS=0.950;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.128;SOR=0.954	GT:AD:DP:GQ:PL	0/1:33,33:66:99:792,0,805	20	0	1	0
chr6	27310582	27310582	G	A	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.C1589T:p.A530V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.025	B	0.035	B	0.056	N	0.853	N	2.015	M	1.98	T	-1.009	T	0.021	T	0.046	2.299	13.64	2.64	0.628	1.417	7.159	0.037	0.00457380117422	.	.	.	.	.	.	.	.	.	.	.	.	.	rs931459915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.025	0.56192	D	.	.	.	.	.	.	0.055521	0.22635	N	0.224693	0.852663	0.28474	N	1.385	0.34509	L	1.94	0.22678	T	-2.33	0.51646	N	0.033	0.00882	-1.0093	0.27136	T	0.021	0.08917	T	10	0.06081772	0.07530	T	0.004574	0.11283	T	0.037	0.09474	0.228	0.15406	0.0401082797425	0.02173	0.28922171704253374	0.28835	.	.	0.254709690809	0.04280	T	0.016631	0.13711	T	-0.321687	0.06761	T	-0.699857	0.05834	T	0.437501043081284	0.30337	T	0.454055	0.12934	T	0.08149508	0.18729	0.12834299	0.30879	0.08149508	0.18729	0.12834299	0.30878	-3.999	0.23789	T	.	.	0.122	0.25364	B	.	.	1.722228	0.21927	15.41	0.99824631958357912	0.90677	0.35993	0.25431	N	AEFDBI	0.065033	0.12662	N	-0.709333535591486	0.15758	0.7970068	-0.707749686166026	0.16767	0.8885786	0.00176535619173559	0.08861	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.41	2.64	0.30504	1.255000	0.32512	1.631000	0.27739	-0.186000	0.09761	0.088000	0.22533	0.006000	0.19429	0.249000	0.23237	0.2046:0.0:0.7954:0.0	7.159	0.24831	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1562	569.39	60	chr6	27310582	.	G	A	569.39	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-3.043e+00;DP=1543;ExcessHet=1.1607;FS=221.345;InbreedingCoeff=-0.2306;MLEAC=6;MLEAF=0.188;MQ=60.00;MQRankSum=0.00;QD=1.28;ReadPosRankSum=1.47;SOR=10.307	GT:AD:DP:GQ:PL	0/1:77,39:116:99:178,0,1469	11	0	5	5
chr6	29396952	29396952	T	C	exonic	OR12D2	.	nonsynonymous SNV	OR12D2:NM_013936:exon1:c.T253C:p.S85P,	.	.	433	1086	2	1	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.985	D	0.845	P	0.001	D	1.000	N	2.765	M	4.99	T	-0.991	T	0.007	T	0.12	0.582	7.140	1.33	0.074	-1.324	6.430	0.056	.	0.0070	0.0071885	0.0021	0.0199	0.0027	0	0	0.0004	0.0034	6.15e-05	0.0021086	326	154602	rs36210742	0.0011	0.0011	0.0012	0.0010	0.0208	0.0010	0.0010	0.0195	0.0190	0.0208	0.0033	0.0018	0	1.911e-05	0.0029	0.0005	0.0022	8.115e-05	0.0069	0.0069	0.0069	0.0068	0.0212	0.0065	0.0064	0.0201	0.0196	0.0212	0	0.0067	0.0012	0	0	0.0068	0.0005	0.0085	0	.	.	.	.	.	.	0.985	0.61118	D	0.845	0.60432	P	0.000643	0.42656	D	0.105404	1	0.08975	N	1.665	0.42610	L	.	.	.	.	.	.	.	.	-0.9906	0.32449	T	0.007	0.02360	T	10	0.0047141314	0.00099	T	.	.	.	.	.	.	.	.	.	0.2880232652262954	0.28715	.	.	0.221697181463	0.01410	T	0.008825	0.08077	T	-0.66199	0.00061	T	-0.705426	0.05534	T	0.0544882621581406	0.06272	T	0.715628	0.32820	T	0.43667436	0.63188	0.67305386	0.80810	0.43667436	0.63188	0.67305386	0.80811	-9.688	0.72023	D	.	.	0.182	0.39459	B	.;.	.;.	2.642780	0.34393	19.61	0.94938679103200041	0.25830	0.03101	0.08031	N	AEFBI	0.097524	0.19667	N	-0.521525425855912	0.21384	1.135	-0.788336593465527	0.14781	0.7741172	1.44334063771775E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.9	1.33	0.20958	-0.978000	0.03888	.	.	0.409000	0.20633	0.000000	0.06391	0.000000	0.08366	0.055000	0.15596	0.1463:0.0:0.3028:0.5509	6.430	0.20993	814	0.42100	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	4654.98	34	chr6	29396952	.	T	C	4654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.669e+00;DP=3816;ExcessHet=0.0000;FS=3.238;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=1.80;SOR=0.547	GT:AD:DP:GQ:PL	0/1:190,195:385:99:4669,0,5000	20	0	1	0
chr6	29942948	29942948	C	0	exonic	HLA-A	.	.	.	.	.	4	962	413	52	91	608	0.211798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11446.09	83	chr6	29942948	.	C	G,*	11446.09	.	AC=7,5;AF=0.167,0.119;AN=42;BaseQRankSum=2.18;DP=2279;ExcessHet=3.2961;FS=4.407;InbreedingCoeff=-0.1632;MLEAC=7,5;MLEAF=0.167,0.119;MQ=58.86;MQRankSum=-2.836e+00;QD=8.92;ReadPosRankSum=-1.240e+00;SOR=1.060	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,52,0:117:99:0|1:29942939_C_G:1963,0,2553,2159,2709,4868:29942939	10	1	5	0
chr6	29942984	29942984	G	0	exonic	HLA-A	.	.	.	.	.	21	460	694	307	40	1348	0.587074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	27213.23	96	chr6	29942984	.	G	A,*	27213.23	.	AC=17,4;AF=0.447,0.105;AN=38;BaseQRankSum=2.07;DP=1862;ExcessHet=2.0051;FS=0.540;InbreedingCoeff=-0.1455;MLEAC=18,4;MLEAF=0.474,0.105;MQ=58.85;MQRankSum=-2.139e+00;QD=18.59;ReadPosRankSum=-7.460e-01;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,32,0:89:99:0|1:29942982_T_A:1172,0,2277,1344,2373,3717:29942982	3	4	8	2
chr6	30647826	30647826	A	G	exonic	C6orf136	.	nonsynonymous SNV	C6orf136:NM_001161376:exon1:c.A595G:p.R199G,	.	.	421	1021	74	6	0	86	0.0404135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.0	B	.	.	0.998	N	0	N	.	.	-0.977	T	0.014	T	0.01	0.757	8.011	-1.41	-0.297	.	3.037	0.075	.	.	0.0171725	0.0293	0.0054	0.0290	0.0278	0	0.0178	0.0541	0.0388	0.003357	519	154602	rs117903822	0.0077	0.0074	0.0070	0.0084	0.0797	0.0076	0.0075	0.0772	0.0762	0.0052	0.0085	0.0167	0.0797	0.0052	0.0338	0.0038	0.0101	0.0258	0.0078	0.0078	0.0069	0.0088	0.0437	0.0075	0.0073	0.0390	0.0372	0.0039	0.0088	0.0118	0.0176	0.0437	0.0058	0.0374	0.0052	0.0123	0.0207	1.0	0.00964	T	0.332	0.18732	T	.	.	.	.	.	.	.	.	.	.	1	0.22124	N	.	.	.	.	.	.	-0.65	0.18877	N	0.01	0.00095	-0.9772	0.35638	T	0.014	0.05657	T	8	0.0018902421	0.00026	T	.	.	.	0.075	0.21907	.	.	.	.	0.06098385558283108	0.06038	1.24459615627	0.81633	.	.	.	0.01798	0.14575	T	-0.709725	0.00032	T	-0.729716	0.04340	T	0.00730309167067027	0.00084	T	0.329067	0.06866	T	.	.	.	.	.	.	.	.	-3.444	0.15656	T	.	.	0.046	0.00059	B	.;.	.;.	1.312319	0.17156	12.99	0.62416210181127441	0.06957	0.00276	0.01495	N	ALL	0.031049	0.03242	N	-1.38486048576254	0.02779	0.123214	-1.38930339050936	0.03365	0.1568165	0.999999999949627	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	3.38	-1.41	0.08473	0.813000	0.26883	.	.	-0.121000	0.13915	0.014000	0.18986	0.926000	0.28431	0.943000	0.48514	0.4582:0.0:0.3434:0.1985	3.037	0.05757	851	0.35303	.;.	.	.	.	.	rs117903822	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	957.11	33	chr6	30647826	.	A	G	957.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.27;DP=728;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=1.07;SOR=0.702	GT:AD:DP:GQ:PL	0/1:19,29:48:99:747,0,513	19	0	2	0
chr6	30685364	30685364	C	G	exonic	PPP1R18	.	nonsynonymous SNV	PPP1R18:NM_133471:exon1:c.G655C:p.V219L	.	.	419	1043	54	6	0	66	0.0306691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.008	B	0.002	B	0.700	N	1.000	N	0.46	N	1.88	T	-0.946	T	0.014	T	0.097	0.949	8.871	1.39	0.344	0.207	11.106	0.021	.	0.0023	0.0061901	0.0061	0.0007	0.0036	0.0014	0.0020	0.0045	0.0069	0.0212	0.0054204	838	154602	rs143519393	0.0042	0.0042	0.0034	0.0049	0.0217	0.0041	0.0041	0.0209	0.0205	0.0005	0.0040	0.0052	0.0004	0.0018	0.0153	0.0031	0.0052	0.0217	0.0038	0.0038	0.0033	0.0042	0.0180	0.0035	0.0034	0.0150	0.0139	0.0006	0	0.0079	0.0046	0.0015	0.0025	0.0272	0.0040	0.0052	0.0180	0.082	0.33254	T	0.255	0.23365	T	0.008	0.14655	B	0.002	0.06944	B	0.700478	0.10098	N	0.818239	1	0.08975	N	2.32	0.66415	M	1.88	0.23884	T	-0.35	0.12847	N	0.132	0.12770	-0.9456	0.41715	T	0.014	0.05705	T	10	0.001848489	0.00025	T	.	.	.	0.021	0.04004	0.264	0.20946	0.0611884634855	0.05136	0.027450092187436007	0.02695	0.448885401441	0.44700	0.363796293736	0.19938	T	0.002987	0.02381	T	-0.614717	0.00119	T	-0.638855	0.09753	T	0.00821828713281253	0.00098	T	.	.	.	0.030433146	0.02707	0.08462599	0.19481	0.030433146	0.02706	0.08462599	0.19481	-3.728	0.19732	T	.	.	0.126	0.26886	B	.;.;.	.;.;.	1.542826	0.19785	14.43	0.89823851812728572	0.19134	0.09276	0.15065	N	AEFDGBHCI	0.099578	0.20041	N	-1.0622982690646	0.07348	0.3410551	-0.975248394405998	0.10343	0.5203191	0.999999959912266	0.74766	0.627647	0.40530	0	0.52208	0.09955	0	0.26897	0.05253	2	0.657601	0.63696	0	.	.	5.66	1.39	0.21325	0.790000	0.26562	.	.	-0.773000	0.03420	0.429000	0.26401	0.000000	0.08366	0.955000	0.50612	0.0:0.6904:0.0:0.3096	11.106	0.47423	862	0.33134	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4247.11	33	chr6	30685364	.	C	G	4247.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.59;DP=1007;ExcessHet=0.1072;FS=1.863;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=0.721;SOR=0.818	GT:AD:DP:GQ:PL	0/1:80,89:169:99:2296,0,1836	19	0	2	0
chr6	30703983	30703983	C	T	exonic	MDC1	.	nonsynonymous SNV	MDC1:NM_014641:exon10:c.G5200A:p.A1734T,	.	.	424	1017	74	7	0	88	0.0414703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.178	B	0.042	B	0.673	N	1.000	N	-1.1	N	3.55	T	-0.934	T	0.001	T	0.033	-0.370	2.258	-4.12	-0.370	-0.663	0.290	0.018	.	0.0044	0.0165735	0.0110	0.0030	0.0063	0.0409	0.0048	0.0063	0.0132	0.0247	0.0104074	1609	154602	rs75355880	0.0079	0.0079	0.0072	0.0086	0.0759	0.0078	0.0077	0.0737	0.0728	0.0035	0.0078	0.0167	0.0759	0.0053	0.0338	0.0039	0.0100	0.0256	0.0075	0.0075	0.0067	0.0084	0.0438	0.0071	0.0070	0.0391	0.0373	0.0029	0.0088	0.0112	0.0176	0.0438	0.0058	0.0374	0.0053	0.0123	0.0199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.672941	0.10325	N	0.808128	1	0.08975	N	-1.78	0.00307	N	3.55	0.04746	T	0.94	0.01529	N	0.013	0.00142	-0.9339	0.43560	T	0.001	0.00348	T	10	0.0020232499	0.00028	T	.	.	.	0.018	0.03083	.	.	.	.	0.06377326123958094	0.06316	0.189930224763	0.21315	0.234251990914	0.02297	T	0.016035	0.13332	T	-0.791146	0.00009	T	-0.844117	0.01039	T	0.0050463368276341	0.00054	T	.	.	.	0.014551189	0.00098	0.03780534	0.03512	0.014551189	0.00098	0.03780534	0.03512	-3.401	0.15070	T	.	.	0.074	0.05188	B	.	.	-0.522186	0.01798	0.139	0.65426518840499925	0.07769	0.00870	0.03447	N	AEFDGBCI	0.012979	0.00158	N	-1.56879976541179	0.01427	0.06226877	-1.55244441102163	0.01959	0.08944971	0.999923987511578	0.46280	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.05	-4.12	0.03650	-0.676000	0.05321	.	.	-0.130000	0.13190	0.000000	0.06391	0.000000	0.08366	0.106000	0.18562	0.289:0.2635:0.1486:0.299	0.290	0.00239	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	6175.11	37	chr6	30703983	.	C	T	6175.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.13;DP=1423;ExcessHet=0.1072;FS=0.522;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.91;ReadPosRankSum=-1.030e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/1:122,133:255:99:3388,0,2802	19	0	2	0
chr6	30704192	30704192	G	C	exonic	MDC1	.	nonsynonymous SNV	MDC1:NM_014641:exon10:c.C4991G:p.T1664S,	.	.	422	1019	74	7	0	88	0.0413923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.066	B	0.065	B	0.676	N	1.000	N	0.62	N	2.67	T	-0.918	T	0.005	T	0.067	-0.390	2.171	-4.79	-1.125	-1.171	3.408	0.006	.	0.0043	0.0167732	0.0112	0.0030	0.0063	0.0421	0.0048	0.0063	0.0166	0.0258	0.0105885	1637	154602	rs80087328	0.0080	0.0080	0.0073	0.0087	0.0768	0.0079	0.0079	0.0745	0.0736	0.0034	0.0078	0.0167	0.0768	0.0053	0.0337	0.0039	0.0121	0.0263	0.0076	0.0077	0.0068	0.0085	0.0442	0.0073	0.0071	0.0395	0.0377	0.0029	0.0088	0.0114	0.0176	0.0442	0.0058	0.0374	0.0053	0.0180	0.0205	0.347	0.12428	T	0.529	0.10138	T	0.021	0.18474	B	0.018	0.18489	B	0.675874	0.10301	N	0.785142	1	0.08975	N	0.785	0.19527	N	2.67	0.12473	T	-0.85	0.23156	N	0.023	0.00407	-0.9176	0.45877	T	0.005	0.01833	T	10	0.0025712848	0.00039	T	.	.	.	0.006	0.00375	0.132	0.03662	.	.	0.052971124096217334	0.05239	0.176861744951	0.19898	0.229384556413	0.01923	T	0.022529	0.17353	T	-0.755738	0.00016	T	-0.796654	0.01987	T	0.00466072554484341	0.00050	T	.	.	.	0.021209378	0.00712	0.022170952	0.00247	0.021209378	0.00712	0.022170952	0.00247	-5.545	0.42287	T	.	.	0.094	0.14293	B	.	.	-0.958933	0.00831	0.028	0.77038592157196695	0.11711	0.12720	0.17439	N	AEFBCI	0.041463	0.06306	N	-1.47856639275995	0.02002	0.08794544	-1.55226613946532	0.01960	0.08950758	0.999416663980499	0.39577	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.93	-4.79	0.02966	-1.465000	0.02463	.	.	-0.858000	0.02657	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0832:0.239:0.1956:0.4822	3.408	0.06922	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	5775.11	37	chr6	30704192	.	G	C	5775.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.89;DP=1613;ExcessHet=0.1072;FS=1.757;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=0.965;SOR=0.537	GT:AD:DP:GQ:PL	0/1:131,116:247:99:3100,0,3393	19	0	2	0
chr6	31029811	31029811	-	GCAGGC	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4380_4381insGCAGGC:p.T1460_S1461insAG	.	.	437	906	156	17	6	196	0.0949051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs28994679	0.0017	0.0017	0.0015	0.0019	0.0071	0.0016	0.0016	0.0053	0.0046	0.0004	0.0019	0.0047	0.0004	0.0061	0.0071	0.0013	0.0023	0.0048	0.0006	0.0006	0.0006	0.0005	0.0010	0.0005	0.0004	0.0006	0.0005	0.0002	0.0014	0.0005	0.0015	0.0002	0.0008	0	0.0008	0.0006	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	42976.19	583	chr6	31029811	.	T	TGCAGGC,*	42976.19	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-4.195e+00;DP=15094;ExcessHet=1.1607;FS=0.524;InbreedingCoeff=-0.1351;MLEAC=3,2;MLEAF=0.071,0.048;MQ=59.64;MQRankSum=-2.283e+00;QD=9.77;ReadPosRankSum=-2.270e-01;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:457,0,370:829:99:1|0:31029782_GCAGGCTCTGAGACCACCACAGCCTCCACTT_G:11275,12128,30673,0,17150,15528:31029782	16	0	3	0
chr6	31029811	31029811	T	0	exonic	MUC22	.	.	.	.	.	437	906	156	17	6	196	0.0949051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	42976.19	583	chr6	31029811	.	T	TGCAGGC,*	42976.19	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-4.195e+00;DP=15094;ExcessHet=1.1607;FS=0.524;InbreedingCoeff=-0.1351;MLEAC=3,2;MLEAF=0.071,0.048;MQ=59.64;MQRankSum=-2.283e+00;QD=9.77;ReadPosRankSum=-2.270e-01;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:457,0,370:829:99:1|0:31029782_GCAGGCTCTGAGACCACCACAGCCTCCACTT_G:11275,12128,30673,0,17150,15528:31029782	16	0	3	0
chr6	31029812	31029812	-	CTGAGACCACCACAGCCTCCACTG	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4381_4382insCTGAGACCACCACAGCCTCCACTG:p.S1461_G1462insETTTASTA	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0015	0.0014	0.0016	0.0071	0.0015	0.0014	0.0052	0.0046	0.0002	0.0014	0.0048	0.0004	0.0062	0.0071	0.0012	0.0021	0.0041	0.0005	0.0005	0.0006	0.0005	0.0013	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0005	0.0018	0.0002	0.0009	0	0.0007	0.0007	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	60923.36	583	chr6	31029812	.	T	G,TCTGAGACCACCACAGCCTCCACTG,*	60923.36	.	AC=6,3,2;AF=0.158,0.079,0.053;AN=38;BaseQRankSum=-3.870e-01;DP=15677;ExcessHet=7.7275;FS=0.535;InbreedingCoeff=-0.4000;MLEAC=6,3,2;MLEAF=0.158,0.079,0.053;MQ=59.59;MQRankSum=-2.939e+00;QD=6.47;ReadPosRankSum=-4.882e+00;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:457,0,0,370:829:99:1|0:31029782_GCAGGCTCTGAGACCACCACAGCCTCCACTT_G:11275,12128,30673,12128,30673,30673,0,17150,17150,15528:31029782	8	0	6	2
chr6	31029812	31029812	T	0	exonic	MUC22	.	.	.	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	60923.36	583	chr6	31029812	.	T	G,TCTGAGACCACCACAGCCTCCACTG,*	60923.36	.	AC=6,3,2;AF=0.158,0.079,0.053;AN=38;BaseQRankSum=-3.870e-01;DP=15677;ExcessHet=7.7275;FS=0.535;InbreedingCoeff=-0.4000;MLEAC=6,3,2;MLEAF=0.158,0.079,0.053;MQ=59.59;MQRankSum=-2.939e+00;QD=6.47;ReadPosRankSum=-4.882e+00;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:457,0,0,370:829:99:1|0:31029782_GCAGGCTCTGAGACCACCACAGCCTCCACTT_G:11275,12128,30673,12128,30673,30673,0,17150,17150,15528:31029782	8	0	6	2
chr6	31138724	31138724	-	C	exonic	PSORS1C1	.	frameshift insertion	PSORS1C1:NM_014068:exon5:c.112dupC:p.H40Pfs*3,	.	.	442	561	311	61	147	580	0.278457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	80570.49	135	chr6	31138723	.	TC	TCC,T	80570.49	.	AC=15,5;AF=0.357,0.119;AN=42;BaseQRankSum=0.541;DP=5630;ExcessHet=8.0185;FS=0.525;InbreedingCoeff=-0.3364;MLEAC=15,5;MLEAF=0.357,0.119;MQ=60.00;MQRankSum=0.00;QD=16.94;ReadPosRankSum=0.407;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:193,169,0:362:99:.:.:4043,0,4790,4623,5298,9921	4	3	9	0
chr6	31270056	31270056	T	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.A925T:p.M309L	.	.	81	51	300	1006	84	2396	0.957746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	1.575	L	5.84	T	-1.004	T	0.001	T	0.425	-0.069	3.663	-3.63	-1.536	-2.290	10.581	0.120	.	.	0.0177716	0.0078	0.0433	0.0067	0.0001	0.0026	0.0052	0.0092	0.0028	0.0070245	1086	154602	rs1050180	2.484e-05	0.0016	2.064e-05	2.915e-05	0.0005	1.588e-05	1.28e-05	0.0002	0.0002	0.0005	0.0001	0	0	0	0	1.125e-05	0	0.0001	3.397e-05	0.0042	3.245e-05	3.565e-05	8.98e-05	5.64e-06	2.11e-06	.	.	8.98e-05	0	0	0	0	0	0	3.028e-05	0	0	0.018	0.50676	D	0.125	0.36101	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.82	0.00657	T	-0.4	0.14978	N	0.067	0.04307	-1.0040	0.28755	T	0.001	0.00378	T	9	0.0030311644	0.00050	T	.	.	.	0.120	0.33359	0.407	0.44066	0.0762999501168	0.06990	0.10785664231938592	0.10714	0.459405056151	0.45523	0.250036120415	0.03772	T	0.006007	0.05450	T	-0.585568	0.00178	T	-0.561255	0.16258	T	0.00351274895036235	0.00037	T	0.210379	0.02537	T	.	.	.	.	.	.	.	.	-5.459	0.41483	T	.	.	0.115	0.25850	B	.;.;.	.;.;.	0.455434	0.08254	4.996	0.33681637653518909	0.02019	0.04374	0.09949	N	AEFBHCI	0.092565	0.18738	N	-1.68195883182571	0.00907	0.0392893	-1.81546310783018	0.00711	0.03167287	0.999999606301239	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	-3.63	0.04238	-3.041000	0.00696	.	.	-2.073000	0.00407	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2105:0.0:0.7895	10.581	0.44447	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.8333	81957.2	114	chr6	31270056	.	T	C,A	81957.2	.	AC=33,4;AF=0.786,0.095;AN=42;BaseQRankSum=-1.136e+00;DP=2977;ExcessHet=1.1607;FS=0.717;InbreedingCoeff=-0.1351;MLEAC=33,4;MLEAF=0.786,0.095;MQ=59.64;MQRankSum=0.00;QD=28.32;ReadPosRankSum=0.291;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,150,0:150:99:.:.:4302,449,0,4302,449,4302	0	13	5	0
chr6	31271153	31271153	A	0	exonic	HLA-C	.	.	.	.	.	0	22	11	0	193	204	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	37138.39	180	chr6	31271153	.	A	C,T,*	37138.39	.	AC=19,1,4;AF=0.452,0.024,0.095;AN=42;BaseQRankSum=3.30;DP=3892;ExcessHet=30.0624;FS=1.107;InbreedingCoeff=-0.7500;MLEAC=19,1,4;MLEAF=0.452,0.024,0.095;MQ=52.03;MQRankSum=-2.061e+00;QD=9.74;ReadPosRankSum=-8.020e-01;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:176,103,0,0:279:99:.:.:3058,0,4246,3586,4556,8142,3586,4556,8142,8142	0	0	16	0
chr6	31271207	31271207	G	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.C485A:p.T162N	.	.	2	1446	73	1	0	75	0.0252781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.045	B	0.16	B	0.010	U	1.000	N	3.365	M	9.44	T	-0.951	T	0.000	T	0.457	0.381	6.067	-2.67	-0.721	-4.377	8.222	0.058	.	.	.	0.0285	0.0253	0.0185	0.0022	0.0219	0.0416	0.0234	0.0065	0.0026002	402	154602	rs2308584	0.0010	0.0090	0.0010	0.0010	0.0035	0.0009	0.0009	0.0028	0.0026	0.0035	0.0033	0.0073	0.0002	0.0004	0.0017	0.0008	0.0014	0.0005	0.0001	0.0090	8.544e-05	0.0001	0.0001	4.799e-05	3.361e-05	5.375e-05	3.509e-05	0.0001	0	0	0	0	0	0	0.0001	0	0	0.001	0.78490	D	0.063	0.45110	T	0.045	0.21781	B	0.16	0.34752	B	0.009683	0.01250	U	771.080000	1	0.08975	N	.	.	.	9.44	0.00008	T	-3.35	0.68298	D	0.07	0.04307	-0.9506	0.40868	T	0.000	0.00075	T	10	0.0056905746	0.00126	T	.	.	.	0.186	0.46104	.	.	.	.	0.11310932799472559	0.11238	0.614770505073	0.55979	0.328787267208	0.14750	T	0.015394	0.12921	T	-0.50846	0.00512	T	-0.468836	0.25641	T	0.0708414355338504	0.08768	T	0.00459954	0.00014	T	.	.	.	.	.	.	.	.	-8.6	0.65089	D	.	.	0.183	0.39647	B	.;.;.	.;.;.	1.252472	0.16495	12.58	0.70026550487147099	0.09162	0.01832	0.05685	N	AEFDGBHCI	0.138209	0.25943	N	-1.20749607607456	0.04889	0.2216519	-1.4198435015477	0.03054	0.1417363	0.999999918893126	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.81	-2.67	0.05703	-3.847000	0.00395	.	.	-3.701000	0.00065	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4359:0.0:0.5641:0.0	8.222	0.30707	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	chr6:31238984	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	4671.92	173	chr6	31271207	.	G	T	4671.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=4.70;DP=3662;ExcessHet=0.6776;FS=0.647;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=50.74;MQRankSum=-3.502e+00;QD=5.80;ReadPosRankSum=-1.296e+00;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:236,41:277:99:.:.:968,0,9628	17	0	4	0
chr6	31356181	31356181	T	0	exonic	HLA-B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	57800.2	50	chr6	31356181	.	T	G,*	57800.2	.	AC=38,3;AF=0.905,0.071;AN=42;BaseQRankSum=1.60;DP=1491;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=38,3;MLEAF=0.905,0.071;MQ=50.44;MQRankSum=-8.849e+00;QD=30.79;ReadPosRankSum=-3.020e+00;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,29,6:35:99:0|1:31356181_T_G:1554,236,132,1094,0,1034:31356181	0	17	1	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	21954.91	76	chr6	31356247	.	C	A,*	21954.91	.	AC=18,9;AF=0.429,0.214;AN=42;BaseQRankSum=5.54;DP=2356;ExcessHet=8.1482;FS=3.246;InbreedingCoeff=-0.3481;MLEAC=18,9;MLEAF=0.429,0.214;MQ=47.98;MQRankSum=-2.470e+00;QD=9.84;ReadPosRankSum=-1.782e+00;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,14,0:105:99:.:.:250,0,2904,524,2946,3470	1	0	12	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	858.89	101	chr6	31356748	.	CCT	*,C	858.89	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2084;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=54.46;QD=0.42;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,138,0:138:99:1|1:31356747_GCC_G:6207,415,0,6207,415,6207:31356747	0	20	0	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	29744.11	115	chr6	31356827	.	T	C,*	29744.11	.	AC=12,23;AF=0.286,0.548;AN=42;DP=3294;ExcessHet=2.5830;FS=0.696;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=51.01;QD=9.20;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:108,0,84:192:99:0|1:31356797_C_T:3202,3527,8051,0,4524,4271:31356797	0	5	0	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	5842.28	59	chr6	31412383	.	TG	T,*	5842.28	.	AC=6,7;AF=0.143,0.167;AN=42;BaseQRankSum=-1.010e+00;DP=1486;ExcessHet=1.3217;FS=1.215;InbreedingCoeff=-0.0027;MLEAC=6,7;MLEAF=0.143,0.167;MQ=60.00;MQRankSum=0.00;QD=9.16;ReadPosRankSum=-1.114e+00;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:25,0,32:57:99:.:.:1200,1275,2321,0,1045,949	10	0	5	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	28073.94	58	chr6	31412384	.	G	GCT,*,GCTGCTGCTGCT	28073.94	.	AC=14,13,5;AF=0.333,0.310,0.119;AN=42;BaseQRankSum=1.31;DP=1521;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=14,13,5;MLEAF=0.333,0.310,0.119;MQ=60.00;MQRankSum=0.00;QD=21.78;ReadPosRankSum=-1.530e-01;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,25,32,0:57:99:.:.:2597,1305,1200,1059,0,949,2484,1302,1061,2459	2	2	2	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.985	D	0.637	P	0.000	D	0.995	D	1.495	L	4.53	T	-0.837	T	0.008	T	0.68	1.237	10.02	5.06	2.122	3.154	13.917	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	9616.67	116	chr6	31625601	.	T	C	9616.67	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-3.022e+00;DP=2814;ExcessHet=36.0830;FS=243.392;InbreedingCoeff=-0.8806;MLEAC=20;MLEAF=0.526;MQ=59.99;MQRankSum=0.00;QD=3.79;ReadPosRankSum=1.23;SOR=12.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,35:138:99:0|1:31625601_T_C:556,0,3295:31625601	0	0	19	2
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.817	P	0.292	B	0.000	D	0.999	D	1.295	L	4.62	T	-0.628	T	0.004	T	0.668	2.651	14.83	5.06	2.628	4.365	17.348	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12029.36	116	chr6	31625602	.	G	A,C	12029.36	.	AC=18,1;AF=0.474,0.026;AN=38;BaseQRankSum=-3.662e+00;DP=2814;ExcessHet=36.0830;FS=285.280;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.500,0.026;MQ=59.99;MQRankSum=0.00;QD=4.75;ReadPosRankSum=1.13;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,35,0:138:99:0|1:31625601_T_C:556,0,3295,863,3398,4262:31625601	0	0	18	2
chr6	31625602	31625602	G	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750C:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.817	P	0.292	B	0.000	D	0.999	D	1.295	L	4.62	T	-0.628	T	0.004	T	0.668	2.530	14.42	5.06	2.628	4.365	17.348	0.179	0.0240778972107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999345	0.46733	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.2299856	0.39939	T	0.024078	0.47063	T	0.179	0.44899	0.192	0.10304	0.187035705434	0.18338	0.40434127179304075	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.0346369	0.46741	T	-0.28753	0.46029	T	0.797656714916229	0.46194	D	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.164074	0.62562	24.5	0.98851704410504837	0.47305	0.96934	0.71741	D	AEFDBCI	0.644900	0.62099	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12029.36	116	chr6	31625602	.	G	A,C	12029.36	.	AC=18,1;AF=0.474,0.026;AN=38;BaseQRankSum=-3.662e+00;DP=2814;ExcessHet=36.0830;FS=285.280;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.500,0.026;MQ=59.99;MQRankSum=0.00;QD=4.75;ReadPosRankSum=1.13;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,35,0:138:99:0|1:31625601_T_C:556,0,3295,863,3398,4262:31625601	0	0	18	2
chr6	32223891	32223893	AGC	-	exonic	NOTCH4	.	nonframeshift deletion	NOTCH4:NM_004557:exon1:c.36_38del:p.L16del,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	2/4:1,0,23,0,24:48:99:1878,1900,2001,942,1054,1043,1900,2001,1054,2001,917,966,0,966,885	0	1	4	0
chr6	32223893	32223893	-	AGCAGCAGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCTGCTGCT:p.L16_C17insLLL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	2/4:1,0,23,0,24:48:99:1878,1900,2001,942,1054,1043,1900,2001,1054,2001,917,966,0,966,885	0	1	4	0
chr6	32223893	32223893	-	AGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCT:p.L16_C17insL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	2/4:1,0,23,0,24:48:99:1878,1900,2001,942,1054,1043,1900,2001,1054,2001,917,966,0,966,885	0	1	4	0
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	2340.92	49	chr6	32521970	.	G	GCC,*	2340.92	.	AC=2,14;AF=0.048,0.333;AN=42;BaseQRankSum=4.87;DP=2985;ExcessHet=0.3152;FS=19.972;InbreedingCoeff=0.1923;MLEAC=2,14;MLEAF=0.048,0.333;MQ=57.72;MQRankSum=-1.101e+01;QD=1.39;ReadPosRankSum=-6.282e+00;SOR=1.161	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:105,0,63:168:99:0|1:32521957_G_A:2319,2635,7044,0,4409,4219:32521957	9	0	2	0
chr6	32521977	32521978	TG	0	exonic	HLA-DRB5	.	.	.	.	.	68	790	259	133	272	797	0.249406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	31947.07	20	chr6	32521977	.	TG	T,CG,*,TCCG	31947.07	.	AC=10,5,5,2;AF=0.238,0.119,0.119,0.048;AN=42;BaseQRankSum=2.83;DP=2813;ExcessHet=0.0007;FS=6.870;InbreedingCoeff=0.6182;MLEAC=10,5,5,2;MLEAF=0.238,0.119,0.119,0.048;MQ=49.85;MQRankSum=-1.379e+00;QD=24.07;ReadPosRankSum=-3.581e+00;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:25,54,71,0,0:150:99:.:.:4102,1917,2819,1218,0,2054,4182,2975,2267,5238,4182,2975,2267,5238,5238	8	2	3	0
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	3841.37	20	chr6	32521978	.	GT	G,*	3841.37	.	AC=4,17;AF=0.100,0.425;AN=40;BaseQRankSum=4.25;DP=2847;ExcessHet=0.7352;FS=10.579;InbreedingCoeff=0.1102;MLEAC=4,18;MLEAF=0.100,0.450;MQ=55.69;MQRankSum=-5.960e+00;QD=2.22;ReadPosRankSum=-4.343e+00;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:25,0,54:150:99:.:.:2185,2265,3321,0,1058,902	5	0	4	1
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	29160.55	20	chr6	32521981	.	T	TGC,C,*	29160.55	.	AC=15,3,4;AF=0.375,0.075,0.100;AN=40;BaseQRankSum=0.770;DP=2811;ExcessHet=1.5433;FS=18.058;InbreedingCoeff=0.0082;MLEAC=16,3,4;MLEAF=0.400,0.075,0.100;MQ=49.06;MQRankSum=-4.980e-01;QD=15.25;ReadPosRankSum=-1.678e+00;SOR=1.050	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,50,0,0:142:99:0|1:32521957_G_A:1823,0,3713,2099,3863,5963,2099,3863,5963,5963:32521957	4	5	4	1
chr6	32522104	32522104	G	0	exonic	HLA-DRB5	.	.	.	.	.	223	868	2	0	429	431	0.00115075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	754.62	135	chr6	32522104	.	G	T,*	754.62	.	AC=2,9;AF=0.053,0.237;AN=38;BaseQRankSum=1.88;DP=2410;ExcessHet=0.5777;FS=19.455;InbreedingCoeff=0.1270;MLEAC=2,10;MLEAF=0.053,0.263;MQ=43.31;MQRankSum=-5.040e-01;QD=1.10;ReadPosRankSum=-2.490e+00;SOR=1.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:24,0,14:38:99:0|1:32522075_A_G:489,561,1564,0,1003,961:32522075	10	0	2	2
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	50186.86	152	chr6	32522156	.	T	A,G,*,C	50186.86	.	AC=14,6,6,1;AF=0.368,0.158,0.158,0.026;AN=38;BaseQRankSum=-2.391e+00;DP=2479;ExcessHet=0.0000;FS=4.483;InbreedingCoeff=0.8143;MLEAC=15,7,7,1;MLEAF=0.395,0.184,0.184,0.026;MQ=47.59;MQRankSum=-1.347e+01;QD=31.15;ReadPosRankSum=3.03;SOR=0.362	GT:AD:DP:GQ:PGT:PID:PL:PS	1|3:0,27,0,30,0:57:99:0|1:32522156_T_*:2393,1260,1178,2393,1260,2393,1134,0,1134,1043,2393,1260,2393,1134,2393:32522156	5	1	0	2
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	11250.32	146	chr6	32522157	.	C	G,*	11250.32	.	AC=10,6;AF=0.250,0.150;AN=40;BaseQRankSum=-1.800e-01;DP=2451;ExcessHet=0.0017;FS=0.000;InbreedingCoeff=0.5718;MLEAC=10,7;MLEAF=0.250,0.175;MQ=47.72;MQRankSum=-1.968e+00;QD=12.26;ReadPosRankSum=3.14;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,27,30:57:99:0|1:32522156_T_*:2393,1260,1178,1134,0,1043:32522156	10	1	3	1
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	11366.22	146	chr6	32522159	.	T	*,A	11366.22	.	AC=7,9;AF=0.167,0.214;AN=42;BaseQRankSum=-3.000e-01;DP=2451;ExcessHet=0.0011;FS=0.000;InbreedingCoeff=0.5934;MLEAC=6,10;MLEAF=0.143,0.238;MQ=47.73;MQRankSum=-1.671e+00;QD=12.50;ReadPosRankSum=3.36;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,30,27:57:99:0|1:32522156_T_*:2393,1134,1043,1260,0,1178:32522156	11	0	2	0
chr6	32530183	32530185	CTT	0	exonic	HLA-DRB5	.	.	.	.	.	1	58	89	55	23	222	0.631746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14818.53	115	chr6	32530183	.	CTT	*,C	14818.53	.	AC=5,17;AF=0.119,0.405;AN=42;BaseQRankSum=2.59;DP=2163;ExcessHet=0.2144;FS=6.037;InbreedingCoeff=0.1918;MLEAC=5,18;MLEAF=0.119,0.429;MQ=53.28;MQRankSum=-6.845e+00;QD=10.59;ReadPosRankSum=-2.181e+00;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,59:59:99:1|1:32530183_CTT_C:2592,2592,2592,177,177,0:32530183	6	1	2	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	37739.64	115	chr6	32530184	.	T	G,*,A	37739.64	.	AC=12,22,3;AF=0.286,0.524,0.071;AN=42;BaseQRankSum=-6.320e-01;DP=2340;ExcessHet=1.1607;FS=2.132;InbreedingCoeff=-0.1351;MLEAC=12,23,2;MLEAF=0.286,0.548,0.048;MQ=55.50;MQRankSum=0.00;QD=16.93;ReadPosRankSum=1.02;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,59,0:59:99:1|1:32530183_CTT_C:2592,2592,2592,177,177,0,2592,2592,177,2592:32530183	0	3	1	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	53589.95	112	chr6	32530185	.	T	TGC,*,C	53589.95	.	AC=5,18,14;AF=0.119,0.429,0.333;AN=42;BaseQRankSum=0.157;DP=2296;ExcessHet=1.1607;FS=2.990;InbreedingCoeff=-0.1351;MLEAC=5,18,14;MLEAF=0.119,0.429,0.333;MQ=55.53;MQRankSum=0.00;QD=24.29;ReadPosRankSum=-2.360e-01;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,59,0:59:99:1|1:32530183_CTT_C:2592,2592,2592,177,177,0,2592,2592,177,2592:32530183	0	1	0	0
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	39726.1	222	chr6	32584177	.	CG	C,*	39726.1	.	AC=8,13;AF=0.190,0.310;AN=42;BaseQRankSum=2.29;DP=4443;ExcessHet=11.2363;FS=1.783;InbreedingCoeff=-0.4286;MLEAC=8,13;MLEAF=0.190,0.310;MQ=53.58;MQRankSum=-2.856e+00;QD=10.49;ReadPosRankSum=-6.830e-01;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:110,7,46:163:99:.:.:1559,1620,6505,0,4343,4480	3	0	6	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	19514.62	219	chr6	32584178	.	G	GCT,*	19514.62	.	AC=5,20;AF=0.119,0.476;AN=42;BaseQRankSum=-6.100e-02;DP=4440;ExcessHet=2.4516;FS=0.559;InbreedingCoeff=-0.0871;MLEAC=5,20;MLEAF=0.119,0.476;MQ=50.67;MQRankSum=1.24;QD=5.44;ReadPosRankSum=2.19;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,110,53:163:99:0|1:32584178_G_*:6791,2190,2062,4607,0,4447:32584178	3	0	1	0
chr6	32584184	32584184	G	0	exonic	HLA-DRB1	.	.	.	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	7031.51	227	chr6	32584184	.	G	GT,*,GTC	7031.51	.	AC=6,5,1;AF=0.150,0.125,0.025;AN=40;BaseQRankSum=3.49;DP=4835;ExcessHet=3.2961;FS=2.645;InbreedingCoeff=-0.1959;MLEAC=6,5,1;MLEAF=0.150,0.125,0.025;MQ=53.60;MQRankSum=-4.261e+00;QD=2.53;ReadPosRankSum=-3.096e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:7,57,117,0:181:99:0|1:32584176_CCG_C:6920,4596,4741,2064,0,2041,6951,4903,2378,7271:32584176	9	0	5	1
chr6	32584184	32584184	-	TC	exonic	HLA-DRB1	.	frameshift insertion	HLA-DRB1:NM_002124:exon2:c.294_295insGA:p.Q99Dfs*31,	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.94e-05	0	0	0	0	0.0001	0	0	0.0016905	44	26028	rs28986201	2.344e-06	2.239e-05	4.721e-06	0	3.106e-06	3.9e-07	1.5e-07	5.2e-07	1.9e-07	0	0	0	0	0	0	3.106e-06	0	0	0	3.383e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	7031.51	227	chr6	32584184	.	G	GT,*,GTC	7031.51	.	AC=6,5,1;AF=0.150,0.125,0.025;AN=40;BaseQRankSum=3.49;DP=4835;ExcessHet=3.2961;FS=2.645;InbreedingCoeff=-0.1959;MLEAC=6,5,1;MLEAF=0.150,0.125,0.025;MQ=53.60;MQRankSum=-4.261e+00;QD=2.53;ReadPosRankSum=-3.096e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:7,57,117,0:181:99:0|1:32584176_CCG_C:6920,4596,4741,2064,0,2041,6951,4903,2378,7271:32584176	9	0	5	1
chr6	32584185	32584185	C	0	exonic	HLA-DRB1	.	.	.	.	.	82	1001	166	64	209	503	0.128049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6470.95	227	chr6	32584185	.	C	CT,*	6470.95	.	AC=6,5;AF=0.150,0.125;AN=40;BaseQRankSum=2.10;DP=4843;ExcessHet=2.2868;FS=2.608;InbreedingCoeff=-0.1376;MLEAC=6,5;MLEAF=0.150,0.125;MQ=53.44;MQRankSum=-6.590e+00;QD=2.58;ReadPosRankSum=-3.178e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:7,56,118:181:99:0|1:32584176_CCG_C:6956,4634,4786,2057,0,1996:32584176	10	0	5	1
chr6	32584353	32584353	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-1G>0	.	.	.	.	171	315	497	500	39	1536	0.703808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	182961.39	194	chr6	32584353	.	C	A,*	182961.39	.	AC=26,3;AF=0.650,0.075;AN=40;BaseQRankSum=2.52;DP=6556;ExcessHet=2.5338;FS=2.208;InbreedingCoeff=-0.0889;MLEAC=27,3;MLEAF=0.675,0.075;MQ=54.10;MQRankSum=-6.249e+00;QD=32.11;ReadPosRankSum=2.64;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,589,0:589:99:1|1:32584353_C_A:25530,1772,0,25530,1772,25530:32584353	1	9	7	1
chr6	32584354	32584354	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-2G>0	.	.	.	.	175	338	454	378	177	1387	0.641569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	154460.88	195	chr6	32584354	.	C	G,A,*	154460.88	.	AC=18,5,1;AF=0.474,0.132,0.026;AN=38;BaseQRankSum=-2.830e-01;DP=6461;ExcessHet=1.8260;FS=3.068;InbreedingCoeff=-0.0814;MLEAC=19,5,1;MLEAF=0.500,0.132,0.026;MQ=53.66;MQRankSum=4.10;QD=29.69;ReadPosRankSum=-9.790e-01;SOR=1.011	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,585,0,0:585:99:1|1:32584353_C_A:25411,1760,0,25411,1760,25411,25411,1760,25411,25411:32584353	2	4	8	2
chr6	32584357	32584357	T	0	exonic	HLA-DRB1	.	.	.	.	.	88	536	775	35	88	933	0.440793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	58783.46	171	chr6	32584357	.	T	G,*	58783.46	.	AC=12,2;AF=0.300,0.050;AN=40;BaseQRankSum=-3.436e+00;DP=5785;ExcessHet=6.1794;FS=7.618;InbreedingCoeff=-0.3166;MLEAC=12,2;MLEAF=0.300,0.050;MQ=54.27;MQRankSum=1.64;QD=13.90;ReadPosRankSum=-3.470e-01;SOR=1.239	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:249,256,0:505:99:0|1:32584353_C_A:9893,0,9594,10642,10365,21007:32584353	7	0	12	1
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	77795.68	157	chr6	32584370	.	G	*,A	77795.68	.	AC=12,17;AF=0.316,0.447;AN=38;BaseQRankSum=3.82;DP=5453;ExcessHet=0.1204;FS=4.284;InbreedingCoeff=0.3021;MLEAC=13,18;MLEAF=0.342,0.474;MQ=52.94;MQRankSum=-1.218e+01;QD=17.06;ReadPosRankSum=-1.291e+00;SOR=1.063	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,216,222:438:99:0|1:32584353_C_A:18662,9340,8672,9088,0,8402:32584353	2	0	3	2
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12898.36	213	chr6	32641444	.	G	C,*	12898.36	.	AC=10,14;AF=0.238,0.333;AN=42;BaseQRankSum=3.77;DP=4027;ExcessHet=1.2156;FS=8.630;InbreedingCoeff=0.0278;MLEAC=10,14;MLEAF=0.238,0.333;MQ=56.94;MQRankSum=-9.014e+00;QD=4.08;ReadPosRankSum=-2.282e+00;SOR=0.880	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:223,0,64:287:99:0|1:32641430_C_T:2016,2687,12051,0,9364,9171:32641430	4	2	3	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12919.36	215	chr6	32641445	.	A	*,T	12919.36	.	AC=14,10;AF=0.333,0.238;AN=42;BaseQRankSum=3.40;DP=4033;ExcessHet=1.2156;FS=8.537;InbreedingCoeff=0.0278;MLEAC=14,10;MLEAF=0.333,0.238;MQ=56.99;MQRankSum=-8.973e+00;QD=4.08;ReadPosRankSum=-2.307e+00;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,64,0:287:99:0|1:32641430_C_T:2016,0,9171,2687,9364,12051:32641430	4	2	7	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10387.93	236	chr6	32641462	.	G	A,*	10387.93	.	AC=8,16;AF=0.190,0.381;AN=42;BaseQRankSum=5.43;DP=4198;ExcessHet=1.2156;FS=3.431;InbreedingCoeff=0.0278;MLEAC=8,16;MLEAF=0.190,0.381;MQ=57.72;MQRankSum=-9.839e+00;QD=3.14;ReadPosRankSum=-1.129e+00;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:234,0,61:295:99:0|1:32641430_C_T:1857,2561,12348,0,9787,9603:32641430	4	1	3	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10409.93	237	chr6	32641464	.	T	A,*	10409.93	.	AC=8,16;AF=0.190,0.381;AN=42;BaseQRankSum=3.55;DP=4202;ExcessHet=1.2156;FS=3.398;InbreedingCoeff=0.0278;MLEAC=8,16;MLEAF=0.190,0.381;MQ=57.80;MQRankSum=-9.745e+00;QD=3.15;ReadPosRankSum=-9.480e-01;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:234,0,61:295:99:0|1:32641430_C_T:1857,2561,12348,0,9787,9603:32641430	4	1	3	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	25415.33	297	chr6	32641501	.	G	C,*,A	25415.33	.	AC=10,13,1;AF=0.238,0.310,0.024;AN=42;BaseQRankSum=2.16;DP=4612;ExcessHet=1.2156;FS=0.551;InbreedingCoeff=0.0278;MLEAC=10,13,1;MLEAF=0.238,0.310,0.024;MQ=58.81;MQRankSum=-6.452e+00;QD=6.79;ReadPosRankSum=1.25;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:270,0,45,0:315:99:0|1:32641476_G_A:1077,1890,13227,0,11337,11202,1890,13227,11337,13227:32641476	4	2	3	0
chr6	32641522	32641522	A	G	exonic	HLA-DQA1	.	nonsynonymous SNV	HLA-DQA1:NM_002122:exon2:c.A295G:p.M99V,	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.002	B	0.417	U	1.000	N	0.695	N	5.87	T	-0.920	T	0.000	T	0.292	-0.760	0.789	-7.95	-6.444	-13.284	0.888	0.044	.	.	.	0.0057	0.0025	0.0088	0.0053	0.0084	0.0066	0.0016	0.0024	0.0058783	153	26028	rs1064944	4.039e-05	0.0068	3.94e-05	4.138e-05	0.0002	2.98e-05	2.601e-05	9.923e-05	6.79e-05	0	5.25e-05	0.0002	0.0002	0	0	3.331e-05	0.0001	0	0	0.0073	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.116	0.29688	T	0.158	0.31629	T	.	.	.	.	.	.	0.417235	0.04626	U	1.376450	1	0.08975	N	.	.	.	5.87	0.00635	T	-1.45	0.35792	N	0.057	0.05670	-0.9197	0.45594	T	0.000	0.00152	T	10	0.004614234	0.00096	T	.	.	.	0.044	0.11924	.	.	.	.	0.34569313513656585	0.34483	0.852731849783	0.68618	0.289853215218	0.08902	T	0.017806	0.14461	T	-0.715283	0.00030	T	-0.656411	0.08510	T	0.0132995924044953	0.00238	T	0.206079	0.02437	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25753	B	.;.;.;.	.;.;.;.	-4.065667	0.00001	0.001	0.34440312666605133	0.02107	0.00388	0.01954	N	AEFGBHCI	0.200916	0.32762	N	-2.37503005817049	0.00031	0.001328335	-2.55582823607075	0.00017	0.0007554368	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.97	-7.95	0.01015	-12.340000	0.00003	.	.	-5.452000	0.00010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3982:0.2011:0.1237:0.2771	0.888	0.01170	940	0.13648	MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal	.	.	.	.	rs1064944	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	28752.87	324	chr6	32641522	.	A	C,G,*	28752.87	.	AC=3,8,13;AF=0.071,0.190,0.310;AN=42;BaseQRankSum=-1.647e+00;DP=4904;ExcessHet=1.2156;FS=1.149;InbreedingCoeff=0.0278;MLEAC=3,8,13;MLEAF=0.071,0.190,0.310;MQ=58.97;MQRankSum=-5.772e+00;QD=7.21;ReadPosRankSum=1.57;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:292,0,0,50:342:99:0|1:32641476_G_A:1082,1961,14136,1961,14136,14136,0,12176,12176,12025:32641476	4	0	1	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28752.87	324	chr6	32641522	.	A	C,G,*	28752.87	.	AC=3,8,13;AF=0.071,0.190,0.310;AN=42;BaseQRankSum=-1.647e+00;DP=4904;ExcessHet=1.2156;FS=1.149;InbreedingCoeff=0.0278;MLEAC=3,8,13;MLEAF=0.071,0.190,0.310;MQ=58.97;MQRankSum=-5.772e+00;QD=7.21;ReadPosRankSum=1.57;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:292,0,0,50:342:99:0|1:32641476_G_A:1082,1961,14136,1961,14136,14136,0,12176,12176,12025:32641476	4	0	1	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L	.	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.022	B	0.025	B	0.941	U	0.979	N	-0.55	N	7.87	T	-1.065	T	0.000	T	0.194	0.074	4.399	0.193	-0.489	0.016	5.435	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	85390.2	233	chr6	32664917	.	C	G,A	85390.2	.	AC=14,9;AF=0.333,0.214;AN=42;BaseQRankSum=0.684;DP=5279;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=14,9;MLEAF=0.333,0.214;MQ=59.41;MQRankSum=-1.614e+00;QD=23.27;ReadPosRankSum=-2.039e+00;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:240,184,0:424:99:0|1:32664910_A_G:7004,0,9524,7726,10078,17804:32664910	5	3	5	0
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	55654.92	97	chr6	32666525	.	A	*,G	55654.92	.	AC=9,30;AF=0.214,0.714;AN=42;BaseQRankSum=-1.394e+00;DP=1812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=9,30;MLEAF=0.214,0.714;MQ=60.00;MQRankSum=0.00;QD=31.69;ReadPosRankSum=-4.920e-01;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:73,0,43:116:99:0|1:32666523_G_C:1586,1806,4871,0,3065,2936:32666523	1	1	0	0
chr6	32838190	32838190	A	G	exonic	TAP2	.	nonsynonymous SNV	TAP2:NM_001290043:exon2:c.T44C:p.V15A	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, Autosomal recessive;Wegener-like granulomatosis (3)	.	3	1475	43	1	0	45	0.015025	.	.	363959	not_provided|MHC_class_I_deficiency	MedGen:C3661900|MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.61	T	0.0	B	0.0	B	0.029	N	1.000	N	-1.485	N	-0.17	T	-0.842	T	0.106	T	0.421	-0.158	3.227	-6.99	-1.295	0.003	9.966	0.375	.	0.0096	0.00878594	0.0051	0.0232	0.0020	0.0011	0.0003	0.0014	0.0038	0.0188	0.0044307	685	154602	rs55827768	0.0027	0.0027	0.0023	0.0031	0.0239	0.0026	0.0026	0.0225	0.0219	0.0239	0.0025	0.0003	0.0009	7.746e-05	0.0176	0.0013	0.0034	0.0149	0.0079	0.0080	0.0077	0.0080	0.0222	0.0075	0.0074	0.0210	0.0205	0.0222	0	0.0034	0.0003	0.0016	0	0.0205	0.0020	0.0087	0.0135	0.156	0.24090	T	0.607	0.07919	T	0.0	0.02946	B	0.0	0.01387	B	0.029026	0.01695	N	2.963350	.	.	.	-1.09	0.01018	N	-0.17	0.89430	T	-0.55	0.17624	N	0.058	0.03283	-0.8422	0.52500	T	0.106	0.38661	T	9	0.0048670173	0.00104	T	.	.	.	0.375	0.69358	.	.	0.12205267543	0.11705	0.3536502454149823	0.35279	0.544725754754	0.51518	0.561443984509	0.47472	T	0.050885	0.28723	T	-0.330553	0.06070	T	-0.230008	0.51771	T	0.00156613741159322	0.00016	T	0.591441	0.21800	T	0.02480374	0.01349	0.09237375	0.21765	0.02480374	0.01349	0.09237375	0.21765	-3.706	0.19791	T	.	.	0.061	0.01309	B	.;.;.;.	.;.;.;.	0.986896	0.13646	10.18	0.52241751892269228	0.04711	0.02510	0.07004	N	AEFDGBHCI	0.027632	0.02291	N	-1.91220650019428	0.00324	0.0139159	-1.89227232899798	0.00507	0.02247004	0.999999999999994	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	4.9	-6.99	0.01449	0.127000	0.15617	.	.	-0.720000	0.03816	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.1696:0.2447:0.5857:0.0	9.966	0.40894	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.07143	1285.68	37	chr6	32838190	.	A	G	1285.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.913;DP=704;ExcessHet=0.3300;FS=1.472;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=-3.690e-01;SOR=0.555	GT:AD:DP:GQ:PL	0/1:21,18:39:99:468,0,529	18	0	3	0
chr6	32843017	32843017	T	A	exonic	PSMB8	.	nonsynonymous SNV	PSMB8:NM_004159:exon2:c.A208T:p.T70S	Autoinflammation, lipodystrophy, and dermatosis syndrome, Autosomal recessive	.	0	1475	46	1	0	48	0.0160107	.	.	455616	not_provided|Proteasome-associated_autoinflammatory_syndrome_1|Autoinflammatory_syndrome|Proteosome-associated_autoinflammatory_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040,Orphanet:2615,Orphanet:324977,Orphanet:324999,Orphanet:325004|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0009726,MedGen:C1850568,OMIM:PS256040,Orphanet:324977|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.395	M	0.59	T	-0.033	T	0.384	T	0.367	5.483	35	5.91	2.256	7.118	14.295	0.643	.	0.0092	0.00838658	0.0050	0.0216	0.0018	0.0011	0.0003	0.0013	0.0046	0.0160	0.0042626	659	154602	rs17220206	0.0027	0.0027	0.0023	0.0030	0.0214	0.0026	0.0026	0.0201	0.0196	0.0214	0.0023	0.0003	0.0009	5.734e-05	0.0166	0.0013	0.0035	0.0150	0.0075	0.0075	0.0074	0.0076	0.0206	0.0071	0.0070	0.0195	0.0190	0.0206	0	0.0034	0.0003	0.0015	0	0.0204	0.0020	0.0081	0.0133	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.605	0.76211	M	0.59	0.53943	T	-3.53	0.69477	D	0.858	0.85449	-0.0332	0.81562	T	0.384	0.73988	T	10	0.017019004	0.00361	T	.	.	.	0.643	0.86435	0.89	0.97320	0.885233339979	0.88410	0.8480556800380565	0.84766	1.4400113835	0.85953	0.61978495121	0.55699	T	0.246082	0.62314	T	-0.319012	0.06978	T	-0.214759	0.53240	T	0.0301341989451897	0.02010	T	.	.	.	0.68950045	0.77485	0.583038	0.75826	0.83828247	0.86487	0.6417363	0.79067	-7.497	0.58450	T	.	.	0.661	0.75421	P	.;.;.	.;.;.	4.690035	0.75145	26.3	0.99768579147479963	0.85666	0.97844	0.77553	D	AEFDBHCI	0.893998	0.83252	D	0.936276874824718	0.93419	12.028	0.879112616932269	0.94596	12.88621	0.99999999999936	0.74766	0.740716	0.97744	0	0.672317	0.65289	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	7.197000	0.77336	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:0.0:1.0	14.295	0.65858	934	0.15400	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	6322.68	40	chr6	32843017	.	T	A	6322.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.07;DP=1067;ExcessHet=0.3300;FS=2.252;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=17.81;ReadPosRankSum=-8.850e-01;SOR=0.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,48:111:99:.:.:1846,0,2390	18	0	3	0
chr6	32858130	32858130	G	C	exonic	PSMB9	.	nonsynonymous SNV	PSMB9:NM_002800:exon4:c.G386C:p.G129A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.984	D	0.000	D	1.000	D	2.005	M	1.98	T	-1.064	T	0.078	T	0.338	3.894	19.80	4.0	1.280	5.289	10.929	0.254	0.0151531328474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.573e-05	1.362e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.54683	D	0.109	0.38450	T	0.999	0.77913	D	0.984	0.76113	D	0.000013	0.62929	D	0.112750	0.999994	0.58761	D	2.245	0.63543	M	1.98	0.21865	T	-5.5	0.88963	D	0.508	0.54322	-1.0644	0.10689	T	0.078	0.30982	T	10	0.59220564	0.66444	D	0.015153	0.35714	T	0.254	0.56428	0.67	0.80803	0.626386034836	0.62333	0.8369063062607006	0.83650	1.2898225746	0.82758	0.560316443443	0.47313	T	0.045347	0.61009	T	-0.092387	0.37681	T	-0.370484	0.36831	T	0.989562571048737	0.79793	D	.	.	.	0.48578802	0.66250	0.47647023	0.69666	0.48578802	0.66251	0.47647023	0.69667	-6.29	0.48642	T	.	.	0.206	0.44860	B	.;.;.	.;.;.	4.595437	0.72728	25.9	0.99810844485195949	0.89442	0.94619	0.61758	D	AEFBI	0.685921	0.64776	D	0.599113474010226	0.73119	5.914338	0.545569782763576	0.71089	5.602106	0.999998239765846	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.693144	0.63139	0	0.59522	0.37078	0	.	.	4.87	4.0	0.45673	5.276000	0.65391	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.769000	0.36481	0.0907:0.0:0.9093:0.0	10.929	0.46421	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	120.13	40	chr6	32858130	.	G	C	120.13	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.401e+00;DP=973;ExcessHet=0.1072;FS=264.058;InbreedingCoeff=-0.0508;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.81;ReadPosRankSum=1.26;SOR=8.525	GT:AD:DP:GQ:PL	0/1:55,23:78:50:50,0,1051	19	0	2	0
chr6	35295232	35295232	C	T	exonic	ZNF76	.	nonsynonymous SNV	ZNF76:NM_001292032:exon13:c.C1532T:p.S511L	.	.	408	1108	6	0	0	6	0.00270027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.091	B	0.008	B	0.150	N	1.000	N	0.69	N	2.95	T	-1.017	T	0.011	T	0.344	3.202	16.72	5.91	2.793	2.471	17.018	0.079	.	0.0058	0.00539137	0.0027	0.0216	0.0027	0	0	0.0008	0.0036	0.0004	0.0017205	266	154602	rs73745177	0.0008	0.0008	0.0009	0.0008	0.0167	0.0008	0.0008	0.0156	0.0151	0.0167	0.0024	3.849e-05	0	9.543e-05	0.0063	0.0003	0.0019	0.0004	0.0057	0.0057	0.0057	0.0057	0.0166	0.0054	0.0053	0.0155	0.0151	0.0166	0	0.0084	0	0	0	0	0.0005	0.0062	0.0008	0.004	0.65419	D	0.017	0.60337	D	0.091	0.25247	B	0.007	0.13708	B	0.150126	0.17996	N	0.306088	1	0.08975	N	0	0.06538	N	2.95	0.09915	T	-0.63	0.18459	N	0.137	0.13484	-1.0166	0.24819	T	0.011	0.04369	T	10	0.0038496554	0.00073	T	.	.	.	0.079	0.23065	.	.	0.17258766438	0.16869	0.30530459145843875	0.30443	0.172913728533	0.19474	0.399952322245	0.25062	T	0.005947	0.05392	T	-0.516828	0.00459	T	-0.50219	0.22121	T	0.0184593729541872	0.00563	T	0.871513	0.59164	D	0.10586575	0.25032	0.09029157	0.21163	0.10586575	0.25032	0.09029157	0.21163	-4.624	0.32472	T	.	.	0.125	0.34775	B	.;.	.;.	2.762305	0.36239	20.2	0.99749356488826091	0.84152	0.62745	0.31875	D	AEFBI	0.193828	0.32094	N	-0.26085894748298	0.30672	1.712446	-0.129455396748558	0.34208	1.965192	0.999999999003916	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.91	5.91	0.95240	2.530000	0.45301	3.071000	0.36200	0.599000	0.40250	0.124000	0.23245	0.066000	0.22130	0.999000	0.91618	0.0:1.0:0.0:0.0	17.018	0.86298	319	0.87030	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1139.98	36	chr6	35295232	.	C	T	1139.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.940e-01;DP=854;ExcessHet=0.0000;FS=0.739;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=-2.780e-01;SOR=0.565	GT:AD:DP:GQ:PL	0/1:57,50:107:99:1154,0,1379	20	0	1	0
chr6	35456231	35456233	GGA	-	exonic	FANCE	.	nonframeshift deletion	FANCE:NM_021922:exon2:c.733_735del:p.G246del,	Fanconi anemia, complementation group E, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	207415	not_specified|FANCE-related_disorder|not_provided|Fanconi_anemia|Fanconi_anemia_complementation_group_E	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901,Orphanet:84	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0060	0.00339457	0.0017	0.0142	0.0011	0	0	0.0006	0.0011	0.0003	0.0002689	7	26028	rs45451605	0.0008	0.0008	0.0008	0.0007	0.0163	0.0007	0.0007	0.0151	0.0147	0.0163	0.0015	3.826e-05	0	9.36e-05	0.0069	0.0003	0.0015	0.0004	0.0049	0.0049	0.0049	0.0049	0.0159	0.0046	0.0045	0.0149	0.0145	0.0159	0	0.0031	0	0	0	0	0.0005	0.0024	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3514.94	67	chr6	35456230	.	TGGA	T	3514.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=1373;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.70;ReadPosRankSum=1.13;SOR=0.657	GT:AD:DP:GQ:PL	0/1:97,91:188:99:3529,0,3783	20	0	1	0
chr6	36684352	36684352	G	A	exonic	CDKN1A	.	nonsynonymous SNV	CDKN1A:NM_000389:exon2:c.G251A:p.R84Q	.	.	423	1096	3	0	0	3	0.00136674	.	.	710484	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.59	T	0.538	P	0.015	B	0.686	N	0.604	N	0	N	-0.06	T	-1.097	T	0.032	T	0.155	-0.309	2.528	2.45	0.974	0.652	6.519	0.036	0.0128948985085	0.0026	0.00159744	0.0029	0.0008	0.0013	0.0001	0.0025	0.0039	0.0047	0.0023	0.0028719	444	154602	rs34916193	0.0036	0.0036	0.0037	0.0035	0.0042	0.0035	0.0035	0.0041	0.0041	0.0006	0.0012	0.0004	0.0001	0.0015	0.0007	0.0042	0.0035	0.0019	0.0023	0.0023	0.0025	0.0022	0.0040	0.0021	0.0021	0.0036	0.0034	0.0010	0.0011	0.0016	0.0006	0.0004	0.0009	0	0.0040	0.0014	0.0006	0.379	0.11227	T	0.445	0.13140	T	0.244	0.31025	B	0.015	0.17295	B	0.685939	0.06118	N	1.209890	1	0.30914	N	0.345	0.11182	N	-0.06	0.63568	T	-0.17	0.09627	N	0.141	0.14196	-1.0972	0.04447	T	0.032	0.13679	T	10	0.005693376	0.00126	T	0.012895	0.31852	T	0.036	0.09122	.	.	0.615732620514	0.61262	0.36593125394936055	0.36507	0.202952709239	0.22713	0.306365787983	0.11359	T	0.022526	0.17353	T	-0.481118	0.00728	T	-0.461535	0.26431	T	0.0025321024952675	0.00026	T	0.639136	0.25234	T	0.06419129	0.13594	0.04371019	0.05501	0.06419129	0.13593	0.04371019	0.05501	-4.359	0.28996	T	.	.	0.081	0.08560	B	.;.;.;.;.	.;.;.;.;.	0.799290	0.11700	8.279	0.85158936865320489	0.15721	0.27466	0.23285	N	AEFDBHCI	0.189546	0.31679	N	-0.997571154014281	0.08655	0.4066668	-1.01294437216849	0.09500	0.472997	0.999999935849243	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.33	2.45	0.28953	0.663000	0.24735	3.858000	0.40123	0.435000	0.21004	0.023000	0.19925	0.991000	0.31484	0.009000	0.08673	0.1348:0.0:0.8652:0.0	6.519	0.21461	807	0.43470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1919.98	34	chr6	36684352	.	G	A	1919.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=931;ExcessHet=0.0000;FS=0.569;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=-1.025e+00;SOR=0.629	GT:AD:DP:GQ:PL	0/1:104,75:179:99:1934,0,2604	20	0	1	0
chr6	36963399	36963399	G	C	exonic	PI16	.	nonsynonymous SNV	PI16:NM_153370:exon5:c.G1057C:p.A353P	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.838	P	0.205	B	0.308	N	1.000	N	0	N	3.02	T	-0.919	T	0.003	T	0.107	0.840	8.392	-2.31	-0.196	0.003	1.218	0.075	0.00665653773469	.	.	0.0002	0	0.0003	0	0	6.019e-05	0.0044	0.0005	0.0001294	20	154602	rs550782025	0.0001	0.0001	6.262e-05	0.0001	0.0010	8.847e-05	8.333e-05	0.0008	0.0007	0	0	0	2.519e-05	3.745e-05	0.0005	4.766e-05	9.935e-05	0.0010	7.222e-05	7.218e-05	6.424e-05	8.055e-05	0.0008	3.968e-05	3.125e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	5.881e-05	0.0005	0.0004	0.126	0.27194	T	0.205	0.27145	T	0.838	0.46404	P	0.205	0.37080	B	0.308368	0.14477	N	0.616617	1	0.08975	N	1.245	0.31408	L	3.02	0.08986	T	-1.03	0.27052	N	0.065	0.03841	-0.9188	0.45716	T	0.003	0.00832	T	10	0.02684322	0.00842	T	0.006657	0.17585	T	0.075	0.21907	0.125	0.03095	0.128392430309	0.12331	0.1641696108908832	0.16336	0.647415020232	0.58120	0.272352993488	0.06449	T	0.017463	0.14244	T	-0.612101	0.00123	T	-0.733801	0.04157	T	0.0266385059803724	0.01494	T	0.470053	0.13899	T	0.09457519	0.22239	0.09942939	0.23739	0.09457519	0.22239	0.09942939	0.23738	-2.732	0.07575	T	.	.	0.081	0.08465	B	.;.;.	.;.;.	0.735503	0.11045	7.702	0.95773183810989659	0.27783	0.06223	0.12211	N	AEFDGBCI	0.082368	0.16678	N	-0.952545086810801	0.09636	0.456904	-1.04438024254198	0.08824	0.4357922	0.999807631590066	0.43304	0.608966	0.35542	0	0.681609	0.65952	0	0.607795	0.38427	0	0.562822	0.20929	0	.	.	5.08	-2.31	0.06380	-0.251000	0.08837	0.288000	0.16841	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.256000	0.23417	0.2789:0.0996:0.169:0.4524	1.218	0.01801	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2299.98	44	chr6	36963399	.	G	C	2299.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.660e-01;DP=1532;ExcessHet=0.0000;FS=0.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=-2.420e-01;SOR=0.764	GT:AD:DP:GQ:PL	0/1:84,85:169:99:2314,0,2232	20	0	1	0
chr6	41043154	41043154	G	A	exonic	TSPO2	.	nonsynonymous SNV	TSPO2:NM_001010873:exon2:c.G169A:p.V57M	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.007	B	0.002	B	0.000	N	1.000	N	-2.27	N	1.27	T	-0.923	T	0.005	T	0.087	-1.201	0.072	1.99	0.237	1.878	3.183	0.053	0.00298635779383	.	0.000199681	8.529e-05	0	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs536475290	4.185e-05	4.173e-05	1.365e-05	7.036e-05	0.0006	3.32e-05	3.01e-05	0.0005	0.0004	0	0	0	0	1.878e-05	0.0002	4.506e-06	1.661e-05	0.0006	4.598e-05	4.594e-05	1.285e-05	8.06e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0004	2.407e-05	0	0	0	0	0	0	0	0	0.0012	1.0	0.12878	T	1.0	0.18071	T	0.007	0.14184	B	0.002	0.06944	B	0.000460	0.44317	N	0.277683	0.999997	0.08975	N	-2.325	0.00090	N	1.27	0.36146	T	2.87	0.01064	N	0.15	0.17002	-0.9230	0.45141	T	0.005	0.01542	T	10	0.030102015	0.01137	T	0.002986	0.06369	T	0.053	0.14996	0.528	0.63412	0.193865811164	0.18958	0.4323634816072549	0.43153	0.266572533615	0.29199	0.254671752453	0.04276	T	0.014975	0.12647	T	-0.522073	0.00428	T	-0.663755	0.08015	T	0.0263523398712329	0.01454	T	0.506149	0.23263	T	0.019593501	0.00493	0.046416182	0.06463	0.019593501	0.00492	0.046416182	0.06463	-1.127	0.30055	T	.	.	0.121	0.27433	B	.;.;.	.;.;.	-0.124243	0.03499	0.659	0.6365032876113933	0.07280	0.01032	0.03867	N	AEFDCI	0.034512	0.04287	N	-1.37253837567368	0.02898	0.1286499	-1.23061192269391	0.05425	0.2584318	0.998942005090964	0.38034	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.631631	0.49550	0	.	.	4.42	1.99	0.25423	1.528000	0.35592	0.187000	0.15699	-0.116000	0.14526	0.060000	0.21767	0.000000	0.08366	0.035000	0.13729	0.6778:0.0:0.1167:0.2054	3.183	0.06198	468	0.78227	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1039.98	33	chr6	41043154	.	G	A	1039.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.780e-01;DP=791;ExcessHet=0.0000;FS=0.822;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=1.38;SOR=0.593	GT:AD:DP:GQ:PL	0/1:45,42:87:99:1054,0,1208	20	0	1	0
chr6	52403967	52403967	A	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.A754G:p.I252V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	B	0.041	B	0.000	D	1.000	D	0.24	N	1.69	T	-1.025	T	0.018	T	0.207	-0.511	1.662	5.64	2.147	2.830	15.038	0.060	0.00527960526329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.978e-05	0.0024	1.833e-05	2.124e-05	2.524e-05	1.372e-05	1.181e-05	1.728e-05	1.481e-05	0	2.239e-05	0	0	0	0	2.524e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.041	0.23986	B	0.000025	0.55875	D	0.115163	0.999832	0.49637	D	.	.	.	1.69	0.27032	T	0.18	0.05035	N	0.134	0.13055	-1.0252	0.22017	T	0.018	0.07518	T	9	0.10744271	0.19958	T	0.00528	0.13494	T	0.060	0.17295	0.488	0.57257	0.376393476264	0.37247	0.3401186203858187	0.33924	0.3389385424	0.35853	0.68097782135	0.64409	T	0.052677	0.29229	T	-0.214048	0.18812	T	-0.545242	0.17786	T	0.904308378696442	0.55774	D	0.813919	0.46746	T	0.07455341	0.16739	0.0980514	0.23362	0.07455341	0.16739	0.0980514	0.23362	-3.487	0.16251	T	.	.	0.198	0.42111	B	.;.	.;.	2.178607	0.27765	17.57	0.81419057112976168	0.13676	0.59864	0.31033	D	ALL	0.196894	0.32384	N	-0.163518393347399	0.34660	1.981109	0.0656923634619325	0.42836	2.598076	0.999999999628226	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	4.094000	0.57448	11.121000	0.86550	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.038	0.71424	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1923	851.03	179	chr6	52403967	.	A	G	851.03	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-3.856e+00;DP=2907;ExcessHet=1.1607;FS=121.785;InbreedingCoeff=-0.2622;MLEAC=6;MLEAF=0.231;MQ=60.00;MQRankSum=0.00;QD=0.76;ReadPosRankSum=1.19;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,37:232:99:0|1:52403967_A_G:357,0,7067:52403967	8	0	5	8
chr6	52403969	52403969	C	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C756G:p.I252M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	B	0.14	B	0.000	D	0.893	D	1.005	L	1.55	T	-1.054	T	0.020	T	0.706	1.278	10.18	0.195	0.071	-0.768	5.139	0.170	0.00775913706174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.151e-05	0.0026	3.041e-05	1.254e-05	6.052e-05	1.542e-05	1.343e-05	1.691e-05	1.449e-05	6.052e-05	0	0	0	0	0	2.47e-05	1.675e-05	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.13	0.34716	T	0.118	0.26577	B	0.14	0.33554	B	0.000025	0.55875	D	0.115163	0.892936	0.35993	D	.	.	.	1.55	0.29866	T	-1.48	0.36189	N	0.283	0.32037	-1.0538	0.13359	T	0.020	0.08593	T	9	0.124320894	0.23611	T	0.007759	0.20589	T	0.170	0.43303	0.517	0.61763	0.267299060538	0.26338	0.586538640297082	0.58583	0.48057550277	0.47073	0.721015810966	0.70195	T	0.080878	0.36467	T	-0.0535672	0.43903	T	-0.314722	0.43150	T	0.235945180058479	0.22232	T	0.821218	0.48050	T	0.14476812	0.33215	0.13295785	0.31893	0.14476812	0.33214	0.13295785	0.31892	-5.366	0.40591	T	.	.	0.261	0.50025	B	.;.	.;.	1.402312	0.18166	13.58	0.96333446261906064	0.29456	0.11428	0.16627	N	ALL	0.097766	0.19713	N	-0.570544328712899	0.19843	1.041757	-0.512454945959116	0.21814	1.181902	0.999999914802843	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	0.195	0.14431	-0.473000	0.06694	0.906000	0.22588	0.599000	0.40250	0.215000	0.24480	0.988000	0.31051	0.998000	0.85391	0.1925:0.4175:0.0:0.3899	5.139	0.14281	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	191.07	167	chr6	52403969	.	C	G	191.07	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.418e+00;DP=2096;ExcessHet=0.0000;FS=117.078;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.80;ReadPosRankSum=1.66;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,35:238:99:0|1:52403967_A_G:205,0,7498:52403967	20	0	1	0
chr6	52403970	52403970	C	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C757G:p.L253V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.003	B	0.157	N	0.996	N	0.755	N	1.65	T	-0.968	T	0.013	T	0.113	-0.959	0.326	0.156	0.065	0.183	2.509	0.090	0.00348224358472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.968e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	0.156625	0.17794	N	0.568363	0.996179	0.23093	N	.	.	.	1.65	0.27650	T	-0.03	0.07444	N	0.044	0.01740	-0.9683	0.37551	T	0.013	0.05273	T	9	0.042198032	0.02945	T	0.003482	0.07878	T	0.090	0.26093	0.392	0.41606	0.285316908763	0.28143	0.43405932941727343	0.43322	0.378079884607	0.39231	0.363088190556	0.19835	T	0.057537	0.30593	T	-0.281738	0.10485	T	-0.642473	0.09489	T	0.0282962478868167	0.01731	T	0.712529	0.32403	T	0.043572016	0.06815	0.0388608	0.03850	0.043572016	0.06814	0.0388608	0.03849	-4.826	0.34893	T	.	.	0.076	0.05756	B	.;.	.;.	0.789462	0.11600	8.188	0.71478645488480796	0.09643	0.08993	0.14835	N	ALL	0.070025	0.13885	N	-0.645021285286078	0.17606	0.9073494	-0.553991212567468	0.20700	1.116454	0.999999888871553	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	0.156	0.14205	0.857000	0.27486	0.414000	0.18144	0.599000	0.40250	0.560000	0.27425	0.980000	0.30356	0.998000	0.85391	0.207:0.4109:0.2345:0.1476	2.509	0.04369	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	184.16	156	chr6	52403970	.	C	G	184.16	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.946e+00;DP=1930;ExcessHet=0.0000;FS=113.649;InbreedingCoeff=-0.0331;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.78;ReadPosRankSum=1.74;SOR=7.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,34:237:99:0|1:52403967_A_G:198,0,7500:52403967	20	0	1	0
chr6	52799230	52799230	C	T	exonic	GSTA1	.	nonsynonymous SNV	GSTA1:NM_145740:exon2:c.G38A:p.R13Q,	.	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.922	P	0.326	B	0.000	D	0.982	D	3.335	M	2.94	T	-1.093	T	0.025	T	0.615	2.375	13.90	1.94	0.292	5.610	9.322	0.220	.	0.0002	0.00419329	0.0015	0.0002	0.0005	0	0	0.0001	0.0044	0.0102	0.0014101	218	154602	rs202070455	0.0006	0.0006	0.0004	0.0008	0.0084	0.0006	0.0005	0.0079	0.0077	0	0.0007	0	0	0	0.0002	5.756e-05	0.0008	0.0084	0.0004	0.0004	0.0002	0.0006	0.0110	0.0003	0.0003	0.0086	0.0078	2.407e-05	0	0.0001	0	0	0	0	5.88e-05	0.0005	0.0110	0.028	0.46129	D	0.061	0.45530	T	0.922	0.51142	P	0.326	0.41929	B	0.000000	0.84330	D	0.000000	0.981789	0.39816	D	4.075	0.97183	H	2.94	0.09728	T	-2.89	0.60665	D	0.617	0.63289	-1.0927	0.05097	T	0.025	0.10777	T	10	0.016188085	0.00340	T	.	.	.	0.220	0.51569	.	.	0.201204373187	0.19734	0.4514263527968819	0.45060	0.00796437177968	0.00718	0.678598940372	0.64068	T	0.123445	0.44781	T	-0.400377	0.02302	T	-0.340783	0.40255	T	0.138852752925521	0.16176	T	0.935306	0.75759	D	0.8607433	0.88143	0.3849145	0.63421	0.8607433	0.88144	0.3849145	0.63420	-9.561	0.71238	D	.	.	0.617	0.69563	P	.	.	3.411985	0.47334	22.4	0.99823404064112842	0.90590	0.88029	0.47782	D	AEFBI	0.809047	0.73266	D	0.0394392217136015	0.43658	2.654436	-0.14935455739239	0.33432	1.912407	0.00319355101008475	0.09983	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.83	1.94	0.25058	5.304000	0.65535	0.160000	0.15395	0.445000	0.21165	0.575000	0.27546	0.000000	0.08366	0.497000	0.28949	0.0:0.8847:0.0:0.1153	9.322	0.37130	900	0.24599	Glutathione S-transferase, N-terminal|Glutathione S-transferase, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2887.98	40	chr6	52799230	.	C	T	2887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=1084;ExcessHet=0.0000;FS=1.395;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.93;MQRankSum=0.00;QD=9.79;ReadPosRankSum=1.31;SOR=0.611	GT:AD:DP:GQ:PL	0/1:167,128:295:99:2902,0,3744	20	0	1	0
chr6	54349720	54349720	G	T	exonic	TINAG	.	nonsynonymous SNV	TINAG:NM_014464:exon7:c.G904T:p.V302L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.002	N	1.000	D	3.01	M	-1.89	D	0.697	D	0.780	D	0.758	4.564	24.7	5.87	2.785	6.987	17.709	0.724	0.189821667061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.037	0.51737	D	1.0	0.90584	D	0.997	0.86255	D	0.001881	0.37789	N	0.185416	0.999975	0.81001	D	2.975	0.85398	M	-1.89	0.84557	D	-2.72	0.57920	D	0.672	0.67995	0.697	0.93132	D	0.780	0.92544	D	10	0.86339	0.85570	D	0.189822	0.86086	D	0.724	0.90280	0.654	0.79172	0.625243557465	0.62219	0.7047589913356231	0.70417	0.0537011207665	0.05932	0.589624524117	0.51441	T	0.376996	0.74027	T	0.264854	0.79976	D	0.142668	0.79718	D	0.992709755897522	0.83255	D	0.910809	0.68393	D	0.81226754	0.84703	0.81390214	0.89149	0.81226754	0.84705	0.81390214	0.89150	-9.475	0.70703	D	.	.	0.752	0.75132	P	.	.	4.883060	0.80103	27.2	0.99837882780437615	0.91886	0.98682	0.85525	D	AEFI	0.797718	0.72447	D	0.943665809100995	0.93728	12.23636	0.904012934162149	0.95746	13.92454	0.975940523629998	0.29679	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.87	5.87	0.94266	7.192000	0.77301	11.634000	0.93728	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	17.709	0.88222	832	0.38914	Peptidase C1A, papain C-terminal|Peptidase C1A, papain C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	804.98	34	chr6	54349720	.	G	T	804.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.165e+00;DP=732;ExcessHet=0.0000;FS=3.875;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=0.906;SOR=0.342	GT:AD:DP:GQ:PL	0/1:23,35:58:99:819,0,562	20	0	1	0
chr6	63580034	63580034	-	T	exonic	PTP4A1	.	frameshift insertion	PTP4A1:NM_001385266:exon6:c.425dupT:p.S147Ffs*55,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1298.17	46	chr6	63580033	.	AT	A,ATT	1298.17	.	AC=12,2;AF=0.300,0.050;AN=40;BaseQRankSum=0.307;DP=1171;ExcessHet=14.4320;FS=0.603;InbreedingCoeff=-0.5084;MLEAC=11,1;MLEAF=0.275,0.025;MQ=60.00;MQRankSum=0.00;QD=1.92;ReadPosRankSum=-1.130e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/2:22,5,16:51:99:305,302,953,0,340,465	6	0	12	1
chr6	63712609	63712609	G	A	exonic	PHF3	.	nonsynonymous SNV	PHF3:NM_001370349:exon15:c.G4757A:p.R1586Q	.	.	423	1075	23	1	0	25	0.0114943	.	.	3221710	PHF3-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.072	B	0.004	B	0.218	N	1.000	N	0.46	N	2.04	T	-0.938	T	0.010	T	0.083	-0.205	3.004	3.04	0.368	1.564	9.355	0.012	0.0101260629571	0.0028	0.00179712	0.0033	0.0004	0.0018	0	0.0061	0.0044	0.0066	0.0018	0.0032535	503	154602	rs116365286	0.0038	0.0038	0.0039	0.0037	0.0246	0.0037	0.0037	0.0213	0.0201	0.0008	0.0018	0.0131	2.522e-05	0.0076	0.0246	0.0036	0.0046	0.0024	0.0030	0.0030	0.0028	0.0032	0.0033	0.0028	0.0027	0.0030	0.0028	0.0007	0.0011	0.0029	0.0121	0.0004	0.0086	0.0136	0.0033	0.0028	0.0021	0.002	0.72154	D	0.166	0.30828	T	0.072	0.23997	B	0.004	0.10090	B	0.217659	0.16213	N	0.447307	1	0.08975	N	2.455	0.71248	M	2.04	0.20808	T	-0.56	0.17003	N	0.078	0.05287	-0.9379	0.42947	T	0.010	0.03719	T	9	0.0025335848	0.00038	T	0.010126	0.26302	T	0.012	0.01476	.	.	0.102598925029	0.09809	0.23089944437456408	0.23004	0.0869291245941	0.09802	0.213840961456	0.00985	T	0.021964	0.17018	T	-0.581734	0.00188	T	-0.60987	0.11996	T	0.0199308842009431	0.00694	T	0.773423	0.40508	T	0.0609732	0.12573	0.0769627	0.17097	0.0609732	0.12573	0.0769627	0.17097	-2.514	0.05877	T	.	.	0.081	0.08033	B	.;.	.;.	2.941087	0.39102	20.9	0.61615258606274415	0.06753	0.60669	0.31261	D	AEFBI	0.131429	0.25036	N	-0.755011647798343	0.14497	0.7226652	-0.653372715211421	0.18131	0.9672387	0.993928747607359	0.33413	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.76	3.04	0.34171	0.868000	0.27635	3.924000	0.40490	-0.135000	0.12811	0.014000	0.18986	0.993000	0.31925	0.948000	0.49324	0.2852:0.0:0.7148:0.0	9.355	0.37322	788	0.46569	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1915.98	40	chr6	63712609	.	G	A	1915.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.68;DP=897;ExcessHet=0.0000;FS=9.434;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=-9.390e-01;SOR=1.120	GT:AD:DP:GQ:PL	0/1:95,68:163:99:1930,0,2393	20	0	1	0
chr6	79487294	79487294	C	T	exonic	LCA5	.	nonsynonymous SNV	LCA5:NM_001122769:exon8:c.G1804A:p.A602T	Leber congenital amaurosis 5	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.42	B	0.142	B	0.009	N	0.801	N	1.78	L	1.45	T	-1.089	T	0.032	T	0.151	1.530	11.07	3.06	2.594	1.771	6.393	0.042	0.00876262375145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.15458	T	0.214	0.26386	T	0.42	0.35330	B	0.142	0.33681	B	0.008987	0.30568	N	0.302761	0.800913	0.29116	N	1.905	0.50856	L	1.45	0.32482	T	-0.71	0.20145	N	0.11	0.09631	-1.0895	0.05616	T	0.032	0.13592	T	10	0.07960212	0.12823	T	0.008763	0.23123	T	0.042	0.11227	0.302	0.27003	0.557090038421	0.55369	0.14585859686984937	0.14507	0.0729793403314	0.08176	0.343767911196	0.17000	T	0.08335	0.37035	T	-0.203965	0.20235	T	-0.530758	0.19210	T	0.516338050365448	0.33230	D	0.687031	0.29593	T	0.07728025	0.17530	0.05560244	0.09783	0.07728025	0.17530	0.05560244	0.09782	-2.69	0.07219	T	0.4612360741487166	0.54341	0.129	0.27583	B	.;.	.;.	2.998620	0.40058	21.1	0.93816275829678986	0.23794	0.73489	0.35947	D	AEFBI	0.191982	0.31916	N	0.104287137318852	0.46662	2.903201	0.196178623831447	0.49637	3.164528	9.742792297922E-4	0.08079	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.55	3.06	0.34374	1.785000	0.38315	1.752000	0.28483	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.3711:0.5363:0.0:0.0926	6.393	0.20798	569	0.70546	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1776.98	41	chr6	79487294	.	C	T	1776.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=939;ExcessHet=0.0000;FS=5.351;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=0.405;SOR=1.021	GT:AD:DP:GQ:PL	0/1:65,65:130:99:1791,0,1675	20	0	1	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	0.939	D	1.955	M	-2.54	D	0.480	D	0.698	D	0.589	3.817	19.38	2.91	0.879	1.891	11.092	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4643	8626.22	29	chr6	80007990	.	G	C,A	8626.22	.	AC=9,4;AF=0.321,0.143;AN=28;BaseQRankSum=-1.515e+00;DP=1035;ExcessHet=11.8493;FS=213.695;InbreedingCoeff=-0.6471;MLEAC=11,5;MLEAF=0.393,0.179;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.474;SOR=11.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,30,0:59:99:0|1:80007990_G_C:1061,0,1117,1148,1207,2355:80007990	1	0	9	7
chr6	80007992	80007997	GTTTTG	-	exonic	TTK	.	nonframeshift deletion	TTK:NM_001166691:exon3:c.323_328del:p.S108_A110delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	8059.53	71	chr6	80007991	.	AGTTTTG	A,AG,ATG	8059.53	.	AC=5,5,3;AF=0.119,0.119,0.071;AN=42;BaseQRankSum=-1.812e+00;DP=1299;ExcessHet=11.8493;FS=210.889;InbreedingCoeff=-0.4483;MLEAC=5,5,3;MLEAF=0.119,0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.164;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:29,7,0,17:53:99:.:.:863,234,1443,818,1476,2014,0,994,1208,1123	8	0	5	0
chr6	80007993	80007997	TTTTG	-	exonic	TTK	.	stopgain	TTK:NM_001166691:exon3:c.324_328del:p.F109*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	8059.53	71	chr6	80007991	.	AGTTTTG	A,AG,ATG	8059.53	.	AC=5,5,3;AF=0.119,0.119,0.071;AN=42;BaseQRankSum=-1.812e+00;DP=1299;ExcessHet=11.8493;FS=210.889;InbreedingCoeff=-0.4483;MLEAC=5,5,3;MLEAF=0.119,0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.164;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:29,7,0,17:53:99:.:.:863,234,1443,818,1476,2014,0,994,1208,1123	8	0	5	0
chr6	80007992	80007992	G	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	140.96	42	chr6	80007992	.	G	*,C	140.96	.	AC=13,2;AF=0.382,0.059;AN=34;BaseQRankSum=1.16;DP=1027;ExcessHet=26.1958;FS=251.456;InbreedingCoeff=-0.6204;MLEAC=15,2;MLEAF=0.441,0.059;MQ=60.00;MQRankSum=0.00;QD=0.19;ReadPosRankSum=0.578;SOR=11.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,17,0:53:99:.:.:863,0,1123,818,1208,2014	2	0	13	4
chr6	80007993	80007993	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	144.91	42	chr6	80007993	.	T	*,C	144.91	.	AC=10,2;AF=0.385,0.077;AN=26;BaseQRankSum=0.236;DP=945;ExcessHet=22.5857;FS=237.638;InbreedingCoeff=-0.4416;MLEAC=14,3;MLEAF=0.538,0.115;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.301;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,17,0:53:99:.:.:863,0,1123,818,1208,2014	1	0	10	8
chr6	80007995	80007995	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:27,7,17,0:51:99:0|1:80007990_G_C:853,234,1372,0,924,1053,809,1404,1135,1935:80007990	1	0	7	8
chr6	80007995	80007995	-	CCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.326_327insCCCC:p.A110Pfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:27,7,17,0:51:99:0|1:80007990_G_C:853,234,1372,0,924,1053,809,1404,1135,1935:80007990	1	0	7	8
chr6	80007995	80007995	T	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.T326C:p.F109S	.	.	.	.	.	.	.	.	.	.	.	3487353	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.996	D	0.818	P	0.000	D	0.844	D	1.61	L	1.42	T	0.418	D	0.623	D	0.661	4.331	22.8	5.66	2.285	5.664	9.438	0.543	0.192901871488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	0.0003	0	4.221e-05	2.681e-05	0	0.0004	0.0003	6.299e-05	5.109e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.818	0.58969	P	0.000000	0.84330	D	0.049019	0.843728	0.35108	D	2.43	0.70455	M	-2.42	0.88611	D	-3.24	0.89093	D	0.479	0.51851	0.418	0.89363	D	0.623	0.86718	D	10	0.7754053	0.77418	D	0.192902	0.86272	D	0.543	0.80960	0.667	0.80502	0.865703120749	0.86440	0.5142532410060754	0.51348	0.734343058358	0.62892	0.673589468002	0.63349	T	0.307771	0.67989	T	0.230199	0.76739	D	0.0928881	0.76438	D	0.992899179458618	0.83501	D	0.849815	0.59928	T	0.9145535	0.92723	0.74627006	0.85002	0.9145535	0.92724	0.74627006	0.85003	-11.553	0.82796	D	.	.	0.975	0.91596	P	.;.;.;.;.;.	.;.;.;.;.;.	5.252684	0.88193	29.5	0.99857276268218276	0.93639	0.93449	0.58247	D	AEFBI	0.664675	0.63376	D	0.634234699625658	0.75350	6.29074	0.657051414914333	0.79135	7.019207	0.999999781221271	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	5.66	0.87293	5.426000	0.66214	5.025000	0.46778	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.247:0.0:0.0:0.753	9.438	0.37819	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:27,7,17,0:51:99:0|1:80007990_G_C:853,234,1372,0,924,1053,809,1404,1135,1935:80007990	1	0	7	8
chr6	80007997	80007997	-	CCCCCA	exonic	TTK	.	nonframeshift insertion	TTK:NM_001166691:exon3:c.328_329insCCCCCA:p.A110_R111insPT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	2870.52	47	chr6	80007997	.	G	GCCCCCA	2870.52	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-1.779e+00;DP=993;ExcessHet=2.5830;FS=136.989;InbreedingCoeff=-0.2354;MLEAC=8;MLEAF=0.211;MQ=60.00;MQRankSum=0.00;QD=7.74;ReadPosRankSum=0.519;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,7:52:48:1|0:80007990_G_C:48,0,1582:80007990	12	0	7	2
chr6	81752025	81752025	-	CCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGG:p.G45_G46insDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	1/2:0,21,23,0:44:99:1801,941,884,864,0,1087,1828,966,1027,1969	3	8	1	0
chr6	81752025	81752025	-	CCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGGCGGCGACTTCGGCGG:p.G45_G46insDFGGGDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	1/2:0,21,23,0:44:99:1801,941,884,864,0,1087,1828,966,1027,1969	3	8	1	0
chr6	83914422	83914422	G	A	exonic	CYB5R4	.	nonsynonymous SNV	CYB5R4:NM_016230:exon5:c.G419A:p.R140H,	.	.	503	1014	5	0	0	5	0.00245942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.265	B	0.005	B	0.000	N	1.000	D	-0.345	N	-1.91	D	-1.016	T	0.146	T	0.069	2.694	14.97	-2.48	-0.470	-1.222	8.147	0.276	.	0.0008	0.00339457	0.0028	0.0019	0	0	0	8.307e-05	0	0.0168	0.0018887	292	154602	rs61762820	0.0009	0.0010	0.0005	0.0013	0.0138	0.0009	0.0008	0.0131	0.0129	0.0018	5.57e-05	0	5.323e-05	0	0.0010	1.893e-05	0.0010	0.0138	0.0011	0.0011	0.0007	0.0015	0.0207	0.0010	0.0009	0.0174	0.0162	0.0015	0	0.0003	0	0	0	0	2.941e-05	0.0005	0.0207	0.323	0.13436	T	0.14	0.33554	T	0.265	0.31634	B	0.005	0.11217	B	0.000002	0.00162	N	6.149880	0.999791	0.49177	D	0	0.06538	N	-1.91	0.84701	D	-0.14	0.09135	N	0.086	0.06322	-1.0161	0.24980	T	0.146	0.47111	T	10	0.0033977926	0.00059	T	.	.	.	0.276	0.59253	.	.	0.708209581343	0.70566	0.4550232643724913	0.45420	0.174264859333	0.19618	0.189428523183	0.00215	T	0.049098	0.28208	T	-0.496906	0.00595	T	-0.474871	0.24994	T	0.0188765307124877	0.00598	T	0.725927	0.34027	T	0.021177659	0.00708	0.029777529	0.01353	0.021177659	0.00707	0.029777529	0.01353	-5.256	0.39506	T	.	.	0.069	0.03026	B	.	.	0.113709	0.05128	1.653	0.96798100217452898	0.31139	0.00605	0.02694	N	AEFI	0.031564	0.03403	N	-0.949008022959573	0.09715	0.4610085	-0.932429034200123	0.11332	0.5766299	0.00357751753351346	0.10184	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.68	-2.48	0.06052	-1.242000	0.03018	-2.255000	0.03991	0.672000	0.70159	0.001000	0.13787	0.000000	0.08366	0.924000	0.46004	0.664:0.0:0.336:0.0	8.147	0.30276	523	0.74147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1752.98	35	chr6	83914422	.	G	A	1752.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=859;ExcessHet=0.0000;FS=8.107;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=-1.876e+00;SOR=1.256	GT:AD:DP:GQ:PL	0/1:92,75:167:99:1767,0,2168	20	0	1	0
chr6	87284875	87284879	ACTCC	-	exonic	GJB7	.	frameshift deletion	GJB7:NM_198568:exon3:c.34_38del:p.G12Kfs*2,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	0.00858626	0.0021	0.0229	0.0011	0.0001	0	1.51e-05	0	0	0.0003458	9	26028	rs148385063	0.0007	0.0007	0.0008	0.0006	0.0240	0.0007	0.0006	0.0226	0.0221	0.0240	0.0013	0	2.519e-05	0	0.0009	4.227e-05	0.0016	4.637e-05	0.0069	0.0069	0.0069	0.0068	0.0239	0.0065	0.0064	0.0226	0.0221	0.0239	0	0.0024	0	0	0	0	7.351e-05	0.0057	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2205.94	33	chr6	87284874	.	TACTCC	T	2205.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.025;DP=955;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.97;ReadPosRankSum=0.787;SOR=0.677	GT:AD:DP:GQ:PL	0/1:72,58:130:99:2220,0,2840	20	0	1	0
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.097	B	0.11	B	0.099	N	1.000	N	1.04	L	1.55	T	-0.985	T	0.016	T	0.051	1.919	12.37	-6.98	-1.253	0.061	8.727	0.026	0.0107427859896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.513e-05	0.0003	1.917e-05	1.106e-05	1.991e-05	9.91e-06	8.46e-06	1.304e-05	1.113e-05	0	0	0	0	0	0	1.991e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.343	0.17857	T	0.02	0.18235	B	0.032	0.22131	B	0.098836	0.19962	N	0.536219	0.999595	0.20909	N	.	.	.	1.55	0.29866	T	-0.84	0.22944	N	0.136	0.13341	-0.9845	0.33951	T	0.016	0.06711	T	10	0.103265375	0.18974	T	0.010743	0.27620	T	0.026	0.05648	0.395	0.42099	0.0954503805726	0.09146	0.19020201639342502	0.18938	0.19954006279	0.22355	.	.	.	0.119676	0.44138	T	-0.336867	0.05608	T	-0.721662	0.04715	T	0.0796661600470543	0.09943	T	0.69863	0.30863	T	0.034879714	0.04001	0.093172565	0.21994	0.034879714	0.04001	0.093172565	0.21993	-3.521	0.16727	T	.	.	0.158	0.34949	B	.	.	0.840487	0.12120	8.673	0.80669705967739813	0.13312	0.64434	0.32406	D	AEFI	0.131428	0.25036	N	-0.974096222241832	0.09159	0.4323572	-0.954286185025139	0.10824	0.5476554	0.0029963270333614	0.09855	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	-6.98	0.01454	0.167000	0.16419	0.396000	0.17945	-0.241000	0.07509	0.882000	0.31029	0.767000	0.26670	0.976000	0.56436	0.1402:0.1105:0.6398:0.1095	8.727	0.33637	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3421	1158.48	77	chr6	87418396	.	G	C	1158.48	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.018e+00;DP=1449;ExcessHet=12.7758;FS=261.195;InbreedingCoeff=-0.5695;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=1.28;ReadPosRankSum=1.16;SOR=11.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:56,42:98:99:.:.:163,0,590	6	0	13	2
chr6	88047945	88047945	A	C	exonic	SPACA1	.	nonsynonymous SNV	SPACA1:NM_030960:exon1:c.A40C:p.M14L,	.	.	432	1081	8	1	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.289	N	1.000	N	-0.895	N	2.12	T	-0.909	T	0.004	T	0.105	-1.212	0.067	2.0	0.583	0.301	4.743	0.018	.	0.0033	0.00199681	0.0045	0.0200	0.0065	0	0	0.0056	0	0.0005	0.0015265	236	154602	rs61729414	0.0017	0.0017	0.0018	0.0017	0.0101	0.0017	0.0017	0.0092	0.0089	0.0101	0.0019	0.0025	2.644e-05	0.0003	0.0053	0.0016	0.0028	0.0004	0.0042	0.0042	0.0043	0.0042	0.0114	0.0040	0.0039	0.0105	0.0102	0.0114	0	0.0015	0.0029	0.0002	0.0004	0	0.0019	0.0038	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.288883	0.14805	N	0.501136	0.999994	0.08975	N	-2.015	0.00187	N	2.12	0.19726	T	0.66	0.02297	N	0.166	0.17553	-0.9090	0.46977	T	0.004	0.01261	T	10	0.0054187775	0.00119	T	.	.	.	0.018	0.03083	0.427	0.47350	0.12205267543	0.11705	0.6427556109873355	0.64210	1.11010610359	0.78032	0.574258804321	0.49278	T	0.010343	0.09352	T	-0.670279	0.00055	T	-0.724555	0.04578	T	0.00163750133191855	0.00017	T	0.253875	0.03902	T	0.06741983	0.14597	0.06746652	0.13960	0.06741983	0.14597	0.06746652	0.13960	0.529	0.00207	T	.	.	0.044	0.00041	B	.	.	0.521670	0.08906	5.685	0.415595185455919	0.03006	0.03584	0.08802	N	AEFDBCI	0.017218	0.00437	N	-1.07845610004914	0.07042	0.3259315	-0.887082544438945	0.12399	0.6375853	0.00477201731635438	0.10707	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	3.79	2.0	0.25495	0.307000	0.19048	0.988000	0.23172	-0.253000	0.07101	0.998000	0.41325	1.000000	0.68203	0.134000	0.19723	0.2142:0.6736:0.0:0.1123	4.743	0.12398	382	0.83637	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	523.98	28	chr6	88047945	.	A	C	523.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=742;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-5.360e-01;SOR=0.702	GT:AD:DP:GQ:PL	0/1:23,20:43:99:538,0,544	20	0	1	0
chr6	88059514	88059514	T	C	exonic	SPACA1	.	nonsynonymous SNV	SPACA1:NM_030960:exon5:c.T536C:p.L179S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.589	P	0.173	B	0.062	N	1.000	N	1.61	L	2.03	T	-0.995	T	0.022	T	0.375	0.855	8.459	2.98	0.316	0.842	7.254	0.059	0.0101402301981	0.0014	0.000399361	0.0003	0.0040	0	0	0	0	0.0011	0	0.0003105	48	154602	rs61739907	0.0001	0.0001	0.0001	9.629e-05	0.0042	0.0001	9.904e-05	0.0037	0.0035	0.0042	0.0002	0	0	0	0.0003	0	0.0003	3.483e-05	0.0011	0.0011	0.0011	0.0012	0.0040	0.0010	0.0009	0.0035	0.0033	0.0040	0	0.0003	0	0	0	0	0	0.0005	0	0.019	0.50132	D	0.02	0.58613	D	0.589	0.39027	P	0.173	0.35463	B	0.061546	0.02146	N	2.313130	1	0.08975	N	1.995	0.54099	M	2.03	0.20959	T	-3.13	0.63901	D	0.325	0.36569	-0.9948	0.31352	T	0.022	0.09421	T	10	0.010364503	0.00231	T	0.01014	0.26324	T	0.059	0.16972	.	.	0.168933306366	0.16529	0.37520038576523423	0.37434	0.130426468933	0.14709	0.255549430847	0.04374	T	0.197043	0.55360	T	-0.480497	0.00734	T	-0.463121	0.26260	T	0.0362958029993169	0.03032	T	0.439156	0.12095	T	0.14835249	0.33872	0.15144128	0.35673	0.14835249	0.33872	0.15144128	0.35672	-3.015	0.10343	T	.	.	0.301	0.53095	B	.	.	1.849012	0.23491	16.04	0.98225897507510018	0.39343	0.11239	0.16501	N	AEFGBIJ	0.077454	0.15606	N	-0.446075531947286	0.23873	1.28512	-0.516359571954346	0.21708	1.175666	2.52816071656455E-4	0.06190	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	2.98	0.33575	0.865000	0.27595	1.143000	0.24420	0.665000	0.62972	0.146000	0.23595	0.822000	0.27135	0.515000	0.29359	0.1524:0.0:0.1443:0.7033	7.254	0.25339	400	0.82730	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	760.98	36	chr6	88059514	.	T	C	760.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.279;DP=784;ExcessHet=0.0000;FS=1.734;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.46;ReadPosRankSum=-3.490e-01;SOR=0.509	GT:AD:DP:GQ:PL	0/1:53,37:90:99:775,0,1232	20	0	1	0
chr6	89713209	89713209	G	A	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon47:c.C7157T:p.A2386V,	.	.	416	1105	1	0	0	1	0.000452284	.	.	3214201	MDN1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.06	T	0.576	P	0.152	B	0.000	D	0.993	D	1.995	M	3.48	T	-1.054	T	0.013	T	0.242	3.943	20.2	5.94	2.812	5.398	16.585	0.125	.	0.0072	0.00678914	0.0019	0.0202	0.0015	0	0	3.003e-05	0	0	0.0014748	228	154602	rs115382023	0.0005	0.0005	0.0006	0.0004	0.0176	0.0005	0.0005	0.0164	0.0159	0.0176	0.0014	0	0	0	0.0007	4.497e-06	0.0012	3.478e-05	0.0059	0.0059	0.0057	0.0062	0.0195	0.0056	0.0055	0.0184	0.0180	0.0195	0	0.0051	0	0	0	0	2.94e-05	0.0038	0.0004	0.008	0.58626	D	.	.	.	0.576	0.38723	P	0.152	0.34249	B	0.000006	0.62929	D	0.061993	0.992546	0.41675	D	2.515	0.73286	M	3.48	0.05130	T	-2.89	0.60665	D	0.578	0.60495	-1.0539	0.13332	T	0.013	0.05321	T	10	0.0065952837	0.00149	T	.	.	.	0.125	0.34456	.	.	0.244449712813	0.24043	0.5629425373566164	0.56221	0.577941031385	0.53705	0.438281059265	0.30342	T	0.011512	0.10265	T	-0.499468	0.00576	T	-0.474633	0.25019	T	0.0592927367816222	0.07056	T	0.820618	0.47957	T	0.27779037	0.50835	0.31645486	0.57626	0.27779037	0.50835	0.31645486	0.57625	-3.353	0.14431	T	.	.	0.472	0.63291	A	.;.	.;.	3.485837	0.48698	22.7	0.99836071774362167	0.91714	0.97989	0.78678	D	AEFBI	0.511330	0.54001	D	0.404352045825806	0.61661	4.37021	0.51857117185259	0.69241	5.332333	0.999990679608749	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.94	5.94	0.96165	5.210000	0.65047	11.919000	0.99774	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1301:0.8699:0.0	16.585	0.84576	803	0.44167	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	681.98	33	chr6	89713209	.	G	A	681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.532;DP=758;ExcessHet=0.0000;FS=0.907;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.61;ReadPosRankSum=0.302;SOR=0.892	GT:AD:DP:GQ:PL	0/1:40,31:71:99:696,0,924	20	0	1	0
chr6	106527318	106527318	G	A	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon5:c.G3202A:p.E1068K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.83	H	-1.26	T	0.715	D	0.738	D	0.923	4.530	24.4	5.29	2.630	6.185	19.297	0.863	0.192094863554	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.798e-06	4.788e-06	2.728e-06	6.89e-06	3.496e-05	2e-06	1.28e-06	9.29e-06	4.58e-06	0	0	0	0	0	0	3.602e-06	0	3.496e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000004	0.62929	D	0.113477	0.999999	0.58761	D	.	.	.	-1.26	0.79176	T	-3.61	0.69477	D	0.773	0.78546	0.715	0.93360	D	0.738	0.91055	D	10	0.91192514	0.90557	D	0.192095	0.86223	D	0.863	0.95839	0.724	0.85850	0.926225739567	0.92547	0.8777903179877831	0.87746	0.48306885369	0.47264	0.624733269215	0.56398	T	0.50359	0.82302	D	0.402716	0.90071	D	0.340697	0.89946	D	0.999738276004791	0.98729	D	0.958704	0.84427	D	0.9087842	0.92181	0.81521153	0.89232	0.9087842	0.92182	0.81521153	0.89233	-11.503	0.82346	D	.	.	0.288	0.52035	B	.;.	.;.	5.342661	0.89640	31	0.99892785866086931	0.96666	0.91636	0.53943	D	AEFDBHCIJ	0.750954	0.69191	D	0.976916565364794	0.94989	13.212	0.884677580693374	0.94868	13.11143	0.999999999685978	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.658983	0.55881	0	0.678554	0.66404	0	.	.	5.29	5.29	0.74430	6.307000	0.72783	11.768000	0.95790	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	19.297	0.94112	850	0.35610	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin;Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	706.98	33	chr6	106527318	.	G	A	706.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.584;DP=776;ExcessHet=0.0000;FS=6.543;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.30;ReadPosRankSum=-1.327e+00;SOR=1.462	GT:AD:DP:GQ:PL	0/1:47,29:76:99:721,0,1189	20	0	1	0
chr6	109450512	109450512	G	T	exonic	MICAL1	.	nonsynonymous SNV	MICAL1:NM_001286613:exon8:c.C1036A:p.P346T	.	.	.	.	.	.	.	.	.	.	.	735328	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.15	T	0.948	P	0.569	P	0.115	N	1.000	D	0.345	N	2.87	T	-0.929	T	0.015	T	0.552	1.286	10.21	4.63	2.566	1.615	15.373	0.129	.	0.0048	0.00519169	0.0015	0.0165	0.0011	0	0	3.173e-05	0	0	0.0013713	212	154602	rs116818040	0.0005	0.0005	0.0005	0.0004	0.0158	0.0004	0.0004	0.0147	0.0143	0.0158	0.0010	0	0	0	0.0005	1.079e-05	0.0012	3.479e-05	0.0044	0.0044	0.0047	0.0041	0.0151	0.0041	0.0040	0.0141	0.0137	0.0151	0	0.0027	0	0	0	0	1.47e-05	0.0024	0	0.222	0.18823	T	0.108	0.37589	T	0.948	0.53620	P	0.569	0.49832	P	0.114936	0.19255	N	0.524486	0.757769	0.81001	D	0.695	0.17993	N	2.87	0.10386	T	-1.78	0.42001	N	0.502	0.53445	-0.9291	0.44270	T	0.015	0.05849	T	10	0.004850447	0.00103	T	.	.	.	0.129	0.35316	.	.	0.314716216878	0.31082	0.38497762743970054	0.38412	0.0964559620353	0.10890	0.486868023872	0.37005	T	0.024964	0.18762	T	-0.4803	0.00736	T	-0.449721	0.27728	T	0.0126010356665443	0.00210	T	0.922508	0.71813	D	0.093342945	0.21922	0.10875615	0.26201	0.09342486	0.21942	0.10533486	0.25318	-10.878	0.78984	D	.	.	0.097	0.16800	B	.;.	.;.	1.892858	0.24040	16.25	0.93492279824521973	0.23294	0.77742	0.38260	D	AEFDBCI	0.395709	0.47246	N	-0.100373709971731	0.37376	2.17364	-0.0181541544711736	0.38895	2.298165	0.99998321577433	0.51787	0.706298	0.61202	0	0.696144	0.67643	0	0.606735	0.37207	0	0.613276	0.41899	0	.	.	4.63	4.63	0.57175	0.787000	0.26519	6.489000	0.55755	0.676000	0.76740	0.091000	0.22601	1.000000	0.68203	0.584000	0.30992	0.0:0.0:1.0:0.0	15.373	0.74301	555	0.71762	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1912.98	34	chr6	109450512	.	G	T	1912.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.080e-01;DP=887;ExcessHet=0.0000;FS=2.038;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=0.358;SOR=0.546	GT:AD:DP:GQ:PL	0/1:72,79:151:99:1927,0,1747	20	0	1	0
chr6	116253540	116253540	G	T	exonic	TSPYL4	.	nonsynonymous SNV	TSPYL4:NM_021648:exon1:c.C469A:p.R157S,	.	.	418	1079	22	3	0	28	0.0128088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.003	B	0.001	B	.	.	1.000	N	0	N	2.22	T	-0.923	T	0.004	T	0.072	-0.731	0.875	-3.56	-0.968	-0.245	3.581	0.008	.	.	0.00119808	0.0061	0	0	0	0	0.0040	0.0042	0.0123	0.0011837	183	154602	rs182432245	0.0018	0.0017	0.0014	0.0022	0.0124	0.0017	0.0017	0.0118	0.0115	0.0003	0.0011	0.0104	2.798e-05	0.0003	0.0065	0.0009	0.0029	0.0124	0.0014	0.0014	0.0013	0.0015	0.0108	0.0012	0.0012	0.0085	0.0076	0.0002	0	0.0013	0.0075	0.0002	9.443e-05	0.0102	0.0014	0.0024	0.0108	0.721	0.03914	T	0.739	0.05000	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	0.999996	0.08975	N	0	0.06538	N	2.22	0.18248	T	0.82	0.01813	N	0.108	0.09349	-0.9230	0.45141	T	0.004	0.01435	T	9	0.0025902987	0.00039	T	.	.	.	0.008	0.00669	.	.	0.0482279557977	0.04254	0.09711456065731681	0.09642	0.372870948759	0.38771	0.356619268656	0.18893	T	0.00125	0.00742	T	-0.722558	0.00027	T	-0.800293	0.01895	T	0.0021529706113725	0.00022	T	0.135486	0.01070	T	0.078095175	0.17764	0.061591078	0.11916	0.078095175	0.17763	0.061591078	0.11916	-3.624	0.18204	T	.	.	0.112	0.21913	B	.	.	-0.051698	0.03940	0.877	0.80589257094945266	0.13275	0.07228	0.13253	N	ALL	0.085917	0.17419	N	-1.7363353794475	0.00721	0.03111612	-1.69043245975076	0.01180	0.05311064	0.999999999993605	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	4.19	-3.56	0.04330	-0.401000	0.07293	-0.038000	0.12706	-0.741000	0.03665	0.000000	0.06391	0.000000	0.08366	0.431000	0.27472	0.2239:0.4961:0.1579:0.1221	3.581	0.07502	559	0.71409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4717.11	84	chr6	116253540	.	G	T	4717.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.35;DP=1632;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=0.287;SOR=0.696	GT:AD:DP:GQ:PL	0/1:88,97:185:99:2424,0,2050	19	0	2	0
chr6	125927739	125927739	C	T	exonic	NCOA7	.	nonsynonymous SNV	NCOA7:NM_001199622:exon4:c.C431T:p.T144I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.7	M	0.85	T	-0.374	T	0.322	T	0.721	4.078	21.0	5.8	2.744	3.418	20.071	0.310	0.0337695859575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.046049	0.999991	0.58761	D	2.645	0.77386	M	0.85	0.47130	T	-4.55	0.78553	D	0.593	0.61341	-0.3737	0.72848	T	0.322	0.69099	T	10	0.5296869	0.63112	D	0.03377	0.55213	D	0.310	0.63162	0.542	0.65446	0.110392049598	0.10638	0.7361813659560693	0.73563	0.493758875756	0.47968	0.727325379848	0.71116	T	0.326126	0.69677	T	0.0912494	0.63330	D	-0.106703	0.62872	T	0.981613278388977	0.74012	D	0.966203	0.94055	D	0.912213	0.92502	0.8593696	0.92136	0.912213	0.92503	0.8593696	0.92136	-7.026	0.57596	T	.	.	0.909	0.86127	P	.;.;.;.;.	.;.;.;.;.	4.862997	0.79599	27.1	0.99875501728492933	0.95244	0.87302	0.46800	D	AEFBCI	0.314837	0.41958	N	0.790928341836536	0.85532	8.604846	0.755157991166596	0.86543	8.92262	0.999999978872137	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	4.226000	0.58405	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.071	0.97721	817	0.41665	TLDc domain|TLDc domain;TLDc domain|TLDc domain;.;TLDc domain|TLDc domain;TLDc domain|TLDc domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	417.94	33	chr6	125927739	.	C	T	417.94	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-5.703e+00;DP=1966;ExcessHet=0.6776;FS=168.175;InbreedingCoeff=-0.1056;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.58;ReadPosRankSum=1.72;SOR=10.928	GT:AD:DP:GQ:PL	0/1:144,42:186:99:212,0,3022	17	0	4	0
chr6	143941953	143941953	G	A	exonic	PLAGL1	.	nonsynonymous SNV	PLAGL1:NM_001317157:exon3:c.C863T:p.S288L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.058	B	0.007	B	0.009	N	1.000	N	0.55	N	3.89	T	-0.951	T	0.006	T	0.089	-0.289	2.618	-0.903	-0.446	1.892	7.767	0.036	0.0074142743758	.	.	2.587e-05	0	0	0	0	4.599e-05	0	0	1.94e-05	3	154602	rs749708141	3.451e-06	4.104e-06	1.37e-06	5.563e-06	3.62e-06	1.01e-06	7.4e-07	8.5e-07	5.7e-07	0	0	0	0	1.914e-05	0	3.62e-06	0	0	1.971e-05	1.97e-05	1.285e-05	2.69e-05	6.547e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.547e-05	0	0	0	0	2.94e-05	0	0	0.166	0.23183	T	0.656	0.18903	T	0.058	0.22967	B	0.007	0.12992	B	0.009091	0.01229	N	2.567660	1	0.08975	N	0.55	0.14455	N	2.88	0.10291	T	-1.05	0.31576	N	0.103	0.17416	-0.9508	0.40833	T	0.006	0.02206	T	10	0.047051072	0.03974	T	0.007414	0.19657	T	0.036	0.09122	0.312	0.28612	0.128874641272	0.12493	0.0998900713402932	0.09920	0.312168810141	0.33520	0.238350659609	0.02643	T	0.146775	0.48454	T	-0.380709	0.03084	T	-0.7148	0.05051	T	0.0533618430730261	0.06081	T	0.80302	0.45008	T	0.036935374	0.04641	0.025543094	0.00603	0.036935374	0.04641	0.025543094	0.00603	-2.995	0.10127	T	.	.	0.104	0.20235	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.388029	0.07598	4.256	0.74770506126206349	0.10820	0.18150	0.20140	N	AEFBCI	0.136002	0.25652	N	-1.21020067492763	0.04850	0.2198053	-1.22041443774869	0.05582	0.2663923	0.132568153262296	0.17120	0.743674	0.98306	0	0.630245	0.54622	0	0.459711	0.06710	0	0.655142	0.61905	0	.	.	5.63	-0.903	0.09999	1.521000	0.35516	3.133000	0.36449	-0.169000	0.11342	0.003000	0.16062	0.053000	0.21875	0.016000	0.10718	0.2635:0.1353:0.6013:0.0	7.767	0.28149	869	0.31655	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1655.98	36	chr6	143941953	.	G	A	1655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.363e+00;DP=812;ExcessHet=0.0000;FS=1.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.24;ReadPosRankSum=-2.000e-01;SOR=0.521	GT:AD:DP:GQ:PL	0/1:39,63:102:99:1670,0,989	20	0	1	0
chr6	149378547	149378547	A	G	exonic	TAB2	.	nonsynonymous SNV	TAB2:NM_001292034:exon3:c.A632G:p.N211S	Congenital heart defects, nonsyndromic, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.993	D	0.956	D	0.000	D	1.000	D	1.085	L	-0.73	T	-0.607	T	0.286	T	0.153	0.616	7.317	4.81	1.084	8.730	12.018	0.289	0.0174232180529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.097e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.15561	T	0.308	0.19845	T	0.993	0.65571	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	-0.73	0.73100	T	-0.76	0.21215	N	0.832	0.82761	-0.6069	0.64532	T	0.286	0.65763	T	10	0.41120163	0.56237	T	0.017423	0.39111	T	0.289	0.60808	0.142	0.04556	0.838873866338	0.83733	0.5868442608649261	0.58614	0.921335754619	0.71472	0.701119542122	0.67305	T	0.222447	0.58630	T	-0.0361796	0.46514	T	-0.289746	0.45798	T	0.672599494457245	0.39454	D	0.943606	0.78679	D	0.07764685	0.17636	0.09442277	0.22350	0.07764685	0.17635	0.09442277	0.22350	-3.035	0.10563	T	0.6447677205311815	0.71602	0.165	0.36335	B	.;.;.	.;.;.	3.080831	0.41449	21.4	0.94975233418001004	0.25908	0.99224	0.93061	D	AEGBI	.	.	.	0.18399020640354	0.50429	3.23311	0.184305151337975	0.48988	3.107472	0.999995086728048	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	4.81	0.61401	8.718000	0.91150	11.270000	0.91373	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.9329:0.0:0.0671:0.0	12.018	0.52617	761	0.50382	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	218.82	33	chr6	149378547	.	A	G	218.82	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-6.274e+00;DP=1804;ExcessHet=0.3300;FS=161.434;InbreedingCoeff=-0.0800;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.27;ReadPosRankSum=2.06;SOR=10.902	GT:AD:DP:GQ:PL	0/1:242,64:306:27:27,0,5239	18	0	3	0
chr6	150600012	150600012	C	T	exonic	PLEKHG1	.	nonsynonymous SNV	PLEKHG1:NM_001329799:exon1:c.C17T:p.S6F,	.	.	440	1063	18	1	0	20	0.00931966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00279553	0.0333	0	0	0	.	0.1264	0	0.0073	0.0009832	152	154602	rs551526351	0.0055	0.0019	0.0054	0.0056	0.0223	0.0051	0.0049	0.0105	0.0074	0.0015	0.0049	0.0283	0	0.0002	0.0223	0.0064	0.0082	0.0013	0.0046	0.0046	0.0044	0.0048	0.0091	0.0043	0.0042	0.0079	0.0074	0.0013	0	0.0091	0.0260	0	9.617e-05	0.0171	0.0056	0.0109	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	419.0	24	chr6	150600012	.	C	T	419.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.075;DP=428;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0258;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.12;ReadPosRankSum=0.167;SOR=0.693	GT:AD:DP:GQ:PL	0/1:8,18:26:99:433,0,147	20	0	1	0
chr6	151349203	151349203	A	G	exonic	AKAP12	.	nonsynonymous SNV	AKAP12:NM_001370346:exon2:c.A497G:p.E166G	.	.	431	1060	30	1	0	32	0.0148699	.	.	721801	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.28	T	0.091	B	0.039	B	0.162	N	1.000	N	1.375	L	2.99	T	-0.927	T	0.007	T	0.219	1.966	12.53	1.23	0.032	1.168	2.822	0.014	.	0.0015	0.00539137	0.0047	0.0003	0.0023	0.0001	0	0.0022	0.0067	0.0231	0.0041332	639	154602	rs61757550	0.0031	0.0031	0.0023	0.0038	0.0233	0.0030	0.0030	0.0225	0.0221	0.0002	0.0015	0.0004	2.519e-05	0.0001	0.0075	0.0019	0.0030	0.0233	0.0019	0.0019	0.0016	0.0021	0.0214	0.0017	0.0016	0.0180	0.0168	0.0002	0.0077	0.0027	0.0009	0	0	0.0068	0.0017	0.0028	0.0214	0.011	0.58626	D	0.175	0.33894	T	0.055	0.25247	B	0.018	0.23607	B	0.161731	0.17642	N	0.414976	1	0.08975	N	1.355	0.33814	L	2.98	0.09356	T	-3.48	0.67941	D	0.161	0.16864	-0.9267	0.44616	T	0.007	0.02399	T	10	0.00404191	0.00079	T	.	.	.	0.014	0.01968	.	.	0.193865811164	0.18958	0.04292823916695377	0.04237	0.22955540359	0.25508	0.234083846211	0.02283	T	0.333517	0.70336	T	-0.573838	0.00210	T	-0.578802	0.14652	T	0.0213776096227445	0.00840	T	0.80032	0.44603	T	0.13005963	0.30358	0.13111448	0.31491	0.13005963	0.30358	0.13111448	0.31490	-4.142	0.28177	T	.	.	0.074	0.06024	B	.;.;.;.	.;.;.;.	2.226109	0.28416	17.79	0.979606302173336	0.37173	0.55464	0.29870	D	AEFBCI	0.321282	0.42413	N	-0.933018253638054	0.10076	0.4798363	-0.940866957212027	0.11136	0.5654561	0.688822126471663	0.22565	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.24	1.23	0.20358	2.284000	0.43140	1.859000	0.29309	-0.100000	0.15956	0.938000	0.32564	0.778000	0.26755	0.084000	0.17470	0.3485:0.3545:0.0672:0.2298	2.822	0.05138	928	0.17405	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1337.98	68	chr6	151349203	.	A	G	1337.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=1402;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=2.99;SOR=0.732	GT:AD:DP:GQ:PL	0/1:57,49:106:99:1352,0,1414	20	0	1	0
chr6	152331115	152331115	C	G	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon77:c.G13357C:p.V4453L	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.005	B	0.013	B	0.325	N	1.000	D	0	N	1.38	T	-0.982	T	0.014	T	0.053	0.267	5.442	0.886	-0.126	1.362	6.318	0.031	0.00754825800838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.034	0.53072	D	0.003	0.11197	B	0.004	0.10090	B	0.325020	0.14208	N	0.660669	1	0.81001	D	0.69	0.16971	N	1.38	0.34050	T	-0.86	0.23372	N	0.117	0.11340	-0.9824	0.34445	T	0.014	0.05513	T	10	0.042183667	0.02943	T	0.007548	0.20033	T	0.031	0.07369	0.323	0.30387	0.170165803431	0.16609	0.20548542717459714	0.20465	0.130822632684	0.14758	0.293257117271	0.09399	T	0.127862	0.45515	T	-0.311759	0.07593	T	-0.685596	0.06647	T	0.025374189688588	0.01322	T	0.79652	0.44001	T	0.047435828	0.08107	0.051205635	0.08193	0.047435828	0.08107	0.051205635	0.08192	-0.288	0.00468	T	.	.	0.131	0.28145	B	.;.	.;.	0.577523	0.09458	6.239	0.69415960505877994	0.08965	0.95287	0.64137	D	AEFDBI	0.517551	0.54362	D	-0.98190325063367	0.08989	0.4236828	-0.848130851139563	0.13332	0.6910612	0.0729640935166664	0.15619	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	6.03	0.886	0.18329	1.409000	0.34288	-0.077000	0.12225	-0.313000	0.06017	1.000000	0.71638	0.000000	0.08366	0.599000	0.31363	0.0:0.5304:0.1169:0.3527	6.318	0.20409	847	0.35998	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	718.73	89	chr6	152331115	.	C	G	718.73	.	AC=6;AF=0.200;AN=30;BaseQRankSum=-4.924e+00;DP=3151;ExcessHet=1.7912;FS=264.883;InbreedingCoeff=-0.2612;MLEAC=7;MLEAF=0.233;MQ=60.00;MQRankSum=0.00;QD=0.72;ReadPosRankSum=1.87;SOR=10.735	GT:AD:DP:GQ:PL	0/1:114,67:190:99:491,0,2241	9	0	6	6
chr6	158982588	158982588	G	A	exonic	RSPH3	.	nonsynonymous SNV	RSPH3:NM_001346418:exon3:c.C731T:p.A244V	Ciliary dyskinesia, primary, 32, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.987	D	0.000	D	1.000	D	2.865	M	2.13	T	-0.871	T	0.143	T	0.533	4.940	28.7	5.51	2.591	5.954	19.034	0.275	0.0240198120003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.736e-06	1.361e-06	2.75e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.025	0.56192	D	1.0	0.90584	D	0.984	0.76113	D	0.000000	0.84330	D	0.052159	0.99996	0.52935	D	3.35	0.91085	M	2.13	0.19588	T	-3.53	0.68532	D	0.36	0.40665	-0.8707	0.50476	T	0.143	0.46422	T	10	0.4521166	0.58763	T	0.02402	0.47001	T	0.275	0.59130	0.589	0.71749	0.40017627803	0.39633	0.30991423867951423	0.30904	0.953332268801	0.72727	0.46926882863	0.34580	T	0.167272	0.51383	T	-0.035668	0.46589	T	-0.289011	0.45875	T	0.985610544681549	0.76556	D	0.921908	0.72522	D	0.5146942	0.67953	0.3731767	0.62510	0.5146942	0.67954	0.3731767	0.62510	-9.589	0.71412	D	.	.	0.194	0.56566	B	.;.;.	.;.;.	4.757929	0.76898	26.6	0.99922760092353557	0.98852	0.97156	0.73019	D	AEFBI	0.816712	0.73838	D	0.857476557106716	0.89528	10.00954	0.813052665349675	0.90687	10.52147	0.99973207354764	0.42341	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.51	5.51	0.81769	6.085000	0.70992	9.802000	0.81700	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.034	0.92950	840	0.37365	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2965.98	45	chr6	158982588	.	G	A	2965.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.706e+00;DP=1002;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-1.560e+00;SOR=0.723	GT:AD:DP:GQ:PL	0/1:115,132:247:99:2980,0,2683	20	0	1	0
chr6	159036794	159036794	C	G	exonic	TAGAP	.	nonsynonymous SNV	TAGAP:NM_001278733:exon6:c.G1040C:p.G347A	.	.	429	1079	13	1	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.893	N	1.000	N	-0.255	N	2.59	T	-0.929	T	0.005	T	0.028	-0.628	1.215	0.863	-0.126	-0.092	8.614	0.030	.	0.0015	0.00479233	0.0049	9.632e-05	0.0003	0.0001	0.0243	0.0030	0.0110	0.0132	0.0042237	653	154602	rs144047559	0.0037	0.0037	0.0034	0.0040	0.0125	0.0036	0.0036	0.0119	0.0117	0.0003	0.0006	0.0006	0	0.0214	0.0054	0.0025	0.0039	0.0125	0.0032	0.0032	0.0024	0.0041	0.0155	0.0030	0.0029	0.0127	0.0117	0.0002	0	0.0010	0.0006	0.0002	0.0186	0.0068	0.0027	0.0033	0.0155	0.776	0.03326	T	0.964	0.03039	T	0.001	0.07471	B	0.003	0.08700	B	0.892609	0.07305	N	1.048490	1	0.08975	N	1.05	0.26816	L	2.34	0.16351	T	-0.5	0.15782	N	0.017	0.00226	-0.9295	0.44212	T	0.005	0.01651	T	10	0.0031353533	0.00052	T	.	.	.	0.030	0.07022	.	.	0.043077524339	0.03247	0.17641509015634613	0.17560	0.32236699631	0.34429	0.240370839834	0.02824	T	0.021877	0.16964	T	-0.744083	0.00019	T	-0.830569	0.01252	T	0.00247982746466107	0.00026	T	0.413359	0.10763	T	0.028559336	0.02212	0.032357886	0.01958	0.028559336	0.02211	0.032357886	0.01958	-3.281	0.13493	T	.	.	0.077	0.12512	B	.;.	.;.	-0.458794	0.02002	0.177	0.10623666636609046	0.00139	0.04924	0.10679	N	AEFDBI	0.107186	0.21363	N	-1.23673434551937	0.04478	0.2021587	-1.17973110660382	0.06249	0.3002034	0.964498186892775	0.28764	0.562547	0.31514	0	0.653731	0.59785	0	0.478664	0.07449	1	0.564101	0.26826	0	.	.	5.93	0.863	0.18199	0.216000	0.17370	0.091000	0.14516	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2801:0.5441:0.1758	8.614	0.32984	799	0.44747	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3411.11	43	chr6	159036794	.	C	G	3411.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.681;DP=1037;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=1.41;SOR=0.696	GT:AD:DP:GQ:PL	0/1:77,77:154:99:1888,0,1839	19	0	2	0
chr6	160050623	160050623	A	C	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon19:c.A2665C:p.I889L,	Hepatocellular carcinoma, somatic	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.025	B	0.028	B	0.000	N	1.000	D	2.56	M	3.14	T	-1.091	T	0.014	T	0.307	2.313	13.69	2.76	0.286	4.353	6.438	0.122	0.0273268917151	7.7e-05	.	8.62e-06	0	0	0	0	1.557e-05	0	0	6.5e-06	1	154602	rs374454730	1.096e-05	1.094e-05	1.226e-05	9.644e-06	5.98e-05	6.49e-06	5.25e-06	9.9e-06	5.03e-06	5.98e-05	0	0	0	0	0	1.171e-05	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.012	0.63918	D	0.025	0.19245	B	0.028	0.21332	B	0.000001	0.84330	N	0.053822	0.999976	0.53665	D	.	.	.	3.14	0.07920	T	-1.43	0.35194	N	0.348	0.38950	-1.0915	0.05286	T	0.014	0.05417	T	10	0.1880343	0.34341	T	0.027327	0.50151	D	0.122	0.33800	.	.	0.307950594193	0.30395	0.8812800909152678	0.88096	0.273496427481	0.29848	0.641915559769	0.58837	T	0.272089	0.64445	T	-0.249198	0.14198	T	-0.495102	0.22857	T	0.942234456539154	0.61623	D	0.727127	0.34152	T	0.19095352	0.40702	0.14482667	0.34371	0.19095352	0.40702	0.14482667	0.34370	-8.227	0.62606	D	.	.	0.143	0.31482	B	.;.	.;.	2.775439	0.36443	20.2	0.9814043898022724	0.38597	0.95692	0.65751	D	AEFBI	0.537539	0.55530	D	-0.155173270734095	0.35016	2.005927	-0.0996168179908467	0.35407	2.048067	0.919169964228426	0.26594	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	2.76	0.31527	4.351000	0.59175	5.052000	0.47007	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.271000	0.23793	0.6183:0.3038:0.0779:0.0	6.438	0.21037	779	0.47767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	758.98	34	chr6	160050623	.	A	C	758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.65;DP=781;ExcessHet=0.0000;FS=8.502;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.49;ReadPosRankSum=-1.552e+00;SOR=1.671	GT:AD:DP:GQ:PL	0/1:51,29:80:99:773,0,1391	20	0	1	0
chr6	168309048	168309048	C	T	exonic	DACT2	.	nonsynonymous SNV	DACT2:NM_001286350:exon3:c.G199A:p.A67T	.	.	416	1078	26	2	0	30	0.0137237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	T	0.001	B	0.003	B	0.211	N	1.000	N	-0.28	N	0.99	T	-1.068	T	0.009	T	0.015	-0.071	3.654	-8.95	-3.503	-1.886	10.167	0.057	.	.	0.0359425	0.0368	0.0120	0.0041	0.0797	0	0.0052	0	0.0609	0.0052975	819	154602	rs117378794	0.0065	0.0063	0.0050	0.0081	0.0578	0.0064	0.0064	0.0557	0.0549	0.0084	0.0047	0.0134	0.0578	0.0008	0.0128	0.0011	0.0099	0.0555	0.0088	0.0088	0.0074	0.0101	0.0689	0.0084	0.0082	0.0630	0.0607	0.0098	0	0.0084	0.0150	0.0689	0.0008	0.0170	0.0012	0.0109	0.0554	0.865	0.02639	T	0.678	0.06511	T	0.001	0.07471	B	0.003	0.08700	B	0.211105	0.16363	N	0.591328	1	0.08975	N	0.405	0.12330	N	0.99	0.41750	T	-0.13	0.08971	N	0.008	0.00226	-1.0680	0.09858	T	0.009	0.03140	T	10	0.0016542077	0.00020	T	.	.	.	0.057	0.16321	.	.	.	.	0.08330383807268534	0.08264	.	.	0.281877875328	0.07755	T	0.046	0.27172	T	-0.768857	0.00013	T	-0.8213	0.01426	T	0.0032293885992605	0.00034	T	0.230077	0.03096	T	0.018826319	0.00406	0.037838276	0.03522	0.018826319	0.00406	0.037838276	0.03521	-3.996	0.23744	T	.	.	0.064	0.02861	B	.;.	.;.	-1.500865	0.00294	0.005	0.56459774746239022	0.05557	0.00364	0.01860	N	AEFDBI	.	.	.	-2.8841353411091	0.00002	8.615512e-05	-2.90599218866823	0.00002	0.0001131657	0.999999839553939	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.48	-8.95	0.00657	-1.789000	0.01857	-5.403000	0.01731	-4.052000	0.00045	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1208:0.3358:0.5434	10.167	0.42061	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2302.98	34	chr6	168309048	.	C	T	2302.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.670e+00;DP=1101;ExcessHet=0.0000;FS=1.860;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=1.24;SOR=0.556	GT:AD:DP:GQ:PL	0/1:84,92:176:99:2317,0,2147	20	0	1	0
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	942.0	42	chr6	170561952	.	A	*,G	942.0	.	AC=35,1;AF=0.833,0.024;AN=42;BaseQRankSum=0.00;DP=3619;ExcessHet=0.1217;FS=0.775;InbreedingCoeff=0.2222;MLEAC=35,1;MLEAF=0.833,0.024;MQ=60.00;MQRankSum=0.00;QD=0.75;ReadPosRankSum=1.62;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,61,0:62:99:1|1:170561949_GCAA_G:2387,152,0,2391,187,2426:170561949	1	15	4	0
chr6	170561961	170561961	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	128	893	348	41	112	542	0.194043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	20125.09	79	chr6	170561961	.	G	GCAA,*,A	20125.09	.	AC=13,1,1;AF=0.406,0.031,0.031;AN=32;BaseQRankSum=0.493;DP=3427;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.5184;MLEAC=15,1,1;MLEAF=0.469,0.031,0.031;MQ=59.97;MQRankSum=0.00;QD=15.10;ReadPosRankSum=0.905;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,43,0,0:109:99:0|1:170561949_GCAA_G:1250,0,2181,1414,2100,4669,1414,2100,4669,4669:170561949	2	1	11	5
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5526	18848.46	88	chr6	170561964	.	G	*,A	18848.46	.	AC=7,16;AF=0.184,0.421;AN=38;BaseQRankSum=-8.830e-01;DP=3263;ExcessHet=5.5923;FS=1.104;InbreedingCoeff=-0.3506;MLEAC=7,17;MLEAF=0.184,0.447;MQ=59.96;MQRankSum=0.00;QD=10.91;ReadPosRankSum=2.22;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:44,0,65:109:99:1|0:170561949_GCAA_G:2100,2025,4909,0,1759,1323:170561949	1	1	3	2
chr7	5313028	5313028	-	GAGGAT	exonic	TNRC18	.	nonframeshift insertion	TNRC18:NM_001080495:exon27:c.7862_7863insATCCTC:p.S2671_T2672insSS,	.	.	447	380	383	306	6	1001	0.566952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0170	0.0195	0.0098	0.0052	0	0.0151	0.0270	0.0187	0.0104591	1617	154602	rs768319122	0.0012	0.0023	0.0011	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0001	0.0008	4.831e-05	0	0.0001	0	0.0013	0.0010	0.0020	0.0010	0.0029	0.0012	0.0008	0.0017	0.0009	0.0008	0.0014	0.0013	0.0004	0	0.0007	0	0.0004	0	0	0.0017	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	16164.21	33	chr7	5313028	.	G	T,GGAGGAT	16164.21	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-6.260e-01;DP=860;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=27,1;MLEAF=0.643,0.024;MQ=59.83;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.311;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,26,0:52:99:.:.:569,0,661,646,738,1384	0	6	14	0
chr7	6622871	6622871	G	T	exonic	ZNF853	.	nonsynonymous SNV	ZNF853:NM_001353546:exon3:c.G1835T:p.G612V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557523388242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.026	0.55759	D	0.901	0.49677	P	0.533	0.48638	P	.	.	.	.	0.901332	0.36179	D	0.55	0.14455	N	3.05	0.08721	T	-2.02	0.46503	N	0.357	0.39861	.	.	.	.	.	.	.	0.25692713	0.43102	T	0.557523	0.95947	D	.	.	.	.	0.352693368174	0.34879	0.18073273636266163	0.17992	0.00785771137959	0.00710	0.885843455791	0.94733	D	0.059163	0.31041	T	-0.107098	0.35250	T	-0.391615	0.34362	T	.	.	.	0.360864	0.08314	T	0.15235396	0.34589	0.23871364	0.49201	0.15235396	0.34589	0.23871364	0.49200	-5.177	0.38707	T	.	.	0.303	0.53198	B	.	.	2.886094	0.38205	20.7	0.98092101855553937	0.38197	0.80423	0.40065	D	AEFBCI	0.097768	0.19713	N	.	.	.	.	.	.	0.511520226825707	0.21023	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.7	3.7	0.41607	0.371000	0.20182	.	.	0.559000	0.28343	0.000000	0.06391	1.000000	0.68203	0.009000	0.08673	0.0:0.0:1.0:0.0	11.230	0.48140	773	0.48803	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	360.03	14	chr7	6622871	.	G	T	360.03	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=453;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0277;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.36;ReadPosRankSum=1.22;SOR=0.976	GT:AD:DP:GQ:PL	0/1:10,12:22:99:374,0,233	20	0	1	0
chr7	7444455	7444455	G	A	exonic	COL28A1	.	nonsynonymous SNV	COL28A1:NM_001037763:exon19:c.C1544T:p.P515L,	.	.	419	1082	20	1	0	22	0.010064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.94	P	0.618	P	0.006	U	0.998	D	2.35	M	-3.18	D	0.763	D	0.820	D	0.288	4.156	21.5	4.97	2.775	1.870	13.955	0.461	.	0.0007	0.00519169	0.0027	0.0001	0.0015	0	0	0.0010	0	0.0148	0.002542	393	154602	rs79817423	0.0014	0.0014	0.0010	0.0018	0.0132	0.0013	0.0013	0.0126	0.0123	0.0001	0.0013	0.0016	2.52e-05	1.872e-05	0.0078	0.0006	0.0018	0.0132	0.0009	0.0009	0.0008	0.0009	0.0108	0.0007	0.0007	0.0085	0.0076	9.637e-05	0	0.0010	0.0017	0.0002	0	0	0.0008	0.0005	0.0108	0.005	0.63226	D	0.005	0.72224	D	0.94	0.52768	P	0.618	0.51338	P	0.006264	0.32150	U	0.187188	0.998106	0.44513	D	3.015	0.86134	M	-3.18	0.93111	D	-4.63	0.79229	D	0.52	0.55019	0.763	0.93950	D	0.820	0.93937	D	10	0.014444113	0.00304	T	.	.	.	0.461	0.75822	.	.	0.559272228206	0.55588	0.2804639588204206	0.27959	0.222033821018	0.24739	0.488252490759	0.37196	T	0.075217	0.35126	T	-0.239887	0.15363	T	-0.105681	0.62955	T	0.0793143822256825	0.09898	T	0.818018	0.47523	T	0.20986126	0.43266	0.22678195	0.47667	0.20986126	0.43266	0.22678195	0.47666	-8.064	0.61506	D	.	.	0.079	0.07365	B	.	.	4.319661	0.66095	24.9	0.99878775021223887	0.95491	0.57344	0.30352	D	AEFBI	0.297676	0.40720	N	0.407551771385356	0.61836	4.390313	0.405122821041497	0.61881	4.394843	0.997649383513343	0.35855	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.635259	0.50027	0	.	.	4.97	4.97	0.65419	2.364000	0.43840	8.043000	0.76323	0.676000	0.76740	0.974000	0.34632	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	13.955	0.63653	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	781.98	34	chr7	7444455	.	G	A	781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.510e-01;DP=784;ExcessHet=0.0000;FS=0.798;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.59;ReadPosRankSum=0.335;SOR=0.814	GT:AD:DP:GQ:PL	0/1:54,37:91:99:796,0,1344	20	0	1	0
chr7	7673314	7673319	AGCAGC	-	splicing	UMAD1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	16242.43	19	chr7	7673310	.	TAGCAGCAGC	T,TAGCAGCAGCAGC,TAGC,TAGCAGC,TAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	16242.43	.	AC=16,7,3,1,1,1;AF=0.381,0.167,0.071,0.024,0.024,0.024;AN=42;BaseQRankSum=0.257;DP=845;ExcessHet=4.5793;FS=1.329;InbreedingCoeff=-0.2255;MLEAC=16,7,3,1,1,1;MLEAF=0.381,0.167,0.071,0.024,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=28.25;ReadPosRankSum=-2.670e-01;SOR=0.560	GT:AD:DP:GQ:PL	2/2:1,0,35,0,0,0,0:36:72:1193,1196,1229,72,105,0,1196,1229,105,1229,1196,1229,105,1229,1229,1196,1229,105,1229,1229,1229,1196,1229,105,1229,1229,1229,1229	1	3	5	0
chr7	12380643	12380643	G	C	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001135924:exon5:c.C632G:p.S211C	.	.	439	1041	40	2	0	44	0.0206961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.761	P	0.338	B	.	.	0.965	N	1.04	L	-1.67	D	-0.401	T	0.416	T	0.096	2.838	15.45	4.98	2.586	2.223	13.417	0.317	.	0.0002	0.00299521	0.0071	0.0004	0.0024	0	0.0012	0.0005	0	0.0191	0.0012484	193	154602	rs201430222	0.0014	0.0013	0.0008	0.0019	0.0163	0.0013	0.0013	0.0155	0.0152	6.33e-05	0.0004	0.0004	2.798e-05	0.0002	0.0102	0.0004	0.0017	0.0163	0.0009	0.0009	0.0007	0.0012	0.0147	0.0008	0.0008	0.0120	0.0110	4.812e-05	0	0.0007	0.0006	0	0.0003	0.0136	0.0007	0.0019	0.0147	0.019	0.50132	D	0.015	0.61642	D	0.761	0.43566	P	0.338	0.42306	B	.	.	.	.	0.965048	0.25955	N	1.495	0.37439	L	-1.67	0.82806	D	-2.2	0.49519	N	0.162	0.17002	-0.4008	0.72001	T	0.416	0.76279	T	9	0.008293569	0.00188	T	.	.	.	0.317	0.63904	.	.	0.343334270461	0.33943	0.20029899394606046	0.19946	.	.	0.376162022352	0.21712	T	0.039527	0.25219	T	-0.420008	0.01710	T	-0.361152	0.37918	T	0.024809887274748	0.01248	T	0.578142	0.20837	T	0.16607872	0.36921	0.15976596	0.37245	0.16607872	0.36920	0.15976596	0.37244	-11.404	0.81827	D	.	.	0.167	0.36712	B	.	.	3.624016	0.51305	23.1	0.98969845649481181	0.49501	0.95695	0.65763	D	AEFBI	0.631091	0.61219	D	0.196351805118652	0.51024	3.287046	0.249341905279831	0.52612	3.434912	0.999978700190465	0.50053	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.98	4.98	0.65679	2.332000	0.43561	5.528000	0.48839	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.775000	0.36711	0.0:0.0:0.843:0.157	13.417	0.60423	837	0.37933	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	5345.68	48	chr7	12380643	.	G	C	5345.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.480e-01;DP=1122;ExcessHet=0.3300;FS=3.317;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=-2.040e-01;SOR=0.538	GT:AD:DP:GQ:PL	0/1:59,78:137:99:1959,0,1420	18	0	3	0
chr7	12393646	12393646	T	C	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001135924:exon2:c.A191G:p.Y64C	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.937	D	3.45	M	-0.06	T	0.150	D	0.500	T	0.909	3.944	20.2	3.71	0.894	5.707	10.442	0.416	0.0504573470259	.	.	.	.	.	.	.	.	.	.	.	.	.	rs968795162	1.787e-05	1.71e-05	1.269e-05	2.319e-05	0.0005	1.227e-05	1.037e-05	0.0002	0.0002	0.0004	0	0	5.598e-05	0	0.0005	2.781e-06	5.175e-05	1.263e-05	1.315e-05	1.313e-05	2.571e-05	0	2.413e-05	2.19e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.061201	0.937339	0.37187	D	3.76	0.95097	H	-0.06	0.63568	T	-6.83	0.93020	D	0.765	0.76296	0.150	0.85051	D	0.500	0.81091	T	10	0.80782115	0.80100	D	0.050457	0.64249	D	0.416	0.72631	0.408	0.44230	0.528358622244	0.52483	0.8841995639925236	0.88387	.	.	0.496502488852	0.38341	T	0.149931	0.48918	T	0.211977	0.75017	D	0.270314	0.86594	D	0.994053065776825	0.85132	D	0.932607	0.74787	D	0.82315797	0.85434	0.5591991	0.74498	0.82315797	0.85435	0.5591991	0.74498	-10.799	0.78544	D	.	.	0.924	0.84525	P	.	.	4.093690	0.60986	24.3	0.99811377658433542	0.89531	0.88802	0.48907	D	AEFBHCI	0.834535	0.75258	D	0.688406419674826	0.78871	6.959975	0.563201385291407	0.72321	5.791426	0.999999942236881	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.87	3.71	0.41733	5.677000	0.67810	3.451000	0.38447	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0766:0.0:0.9234	10.442	0.43658	843	0.36859	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	832.98	34	chr7	12393646	.	T	C	832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.862;DP=837;ExcessHet=0.0000;FS=0.990;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=-9.970e-01;SOR=0.906	GT:AD:DP:GQ:PL	0/1:29,36:65:99:847,0,603	20	0	1	0
chr7	16216076	16216076	G	A	exonic	CRPPA	.	nonsynonymous SNV	CRPPA:NM_001101417:exon8:c.C1091T:p.S364F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.116	B	0.015	B	.	.	1.000	N	0	N	-2.11	D	-0.771	T	0.307	T	0.087	1.409	10.65	-2.66	-0.210	-0.128	5.095	0.169	0.0579891373155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.477e-06	6.158e-06	4.152e-06	2.795e-06	0.0005	1.02e-06	7.4e-07	0.0001	7.916e-05	0	0	0	0	0	0.0005	1.818e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.49117	D	0.647	0.06812	T	0.116	0.26475	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-2.11	0.86283	D	-1.08	0.28084	N	0.233	0.26233	-0.7706	0.56825	T	0.307	0.67786	T	9	0.19350168	0.35122	T	0.057989	0.67162	D	0.169	0.43123	0.383	0.40134	0.389126455913	0.38528	0.17377019773525423	0.17297	0.0620294916883	0.06903	0.267656058073	0.05836	T	0.007871	0.07247	T	-0.154453	0.27618	T	-0.459638	0.26638	T	0.0847398002275077	0.10583	T	0.592541	0.24395	T	0.15033735	0.34230	0.09243472	0.21783	0.15033735	0.34229	0.09243472	0.21782	-4.013	0.23998	T	.	.	0.125	0.32420	B	.;.	.;.	1.036081	0.14163	10.74	0.96472164228350632	0.29939	0.15397	0.18891	N	AEFBI	0.109112	0.21683	N	-0.896513283811043	0.10925	0.5245361	-0.833512609486949	0.13685	0.7112324	0.317268264719815	0.19348	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.07	-2.66	0.05721	-0.102000	0.10926	-1.240000	0.05935	-0.843000	0.02775	0.716000	0.28781	0.000000	0.08366	0.840000	0.39645	0.0:0.28:0.2893:0.4307	5.095	0.14062	939	0.14249	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	520.98	34	chr7	16216076	.	G	A	520.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.710e-01;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=0.384;SOR=0.631	GT:AD:DP:GQ:PL	0/1:29,24:53:99:535,0,701	20	0	1	0
chr7	23270036	23270036	C	G	exonic	GPNMB	.	nonsynonymous SNV	GPNMB:NM_001005340:exon9:c.C1326G:p.S442R	.	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.411	B	0.156	B	0.119	N	1.000	N	1.245	L	2.52	T	-1.026	T	0.025	T	0.181	1.976	12.57	3.19	1.512	0.047	3.927	0.028	0.0135042549482	0.0002	0.000199681	0.0003	0	0.0004	0	0	0.0005	0.0033	6.056e-05	0.0003169	49	154602	rs201324416	0.0004	0.0004	0.0004	0.0004	0.0038	0.0004	0.0004	0.0026	0.0022	0.0002	0.0010	0.0039	0	3.744e-05	0.0038	0.0003	0.0008	0.0003	0.0004	0.0004	0.0004	0.0005	0.0016	0.0003	0.0003	0.0011	0.0009	4.814e-05	0	0.0016	0.0026	0	0	0.0034	0.0004	0.0014	0	0.011	0.57480	D	0.006	0.70582	D	0.302	0.35101	B	0.075	0.28327	B	0.119324	0.19078	N	0.550372	1	0.08975	N	1.24	0.30952	L	2.52	0.14284	T	-1.72	0.40850	N	0.249	0.29313	-1.0262	0.21690	T	0.025	0.10733	T	10	0.009191394	0.00208	T	0.013504	0.32951	T	0.028	0.06331	0.418	0.45873	0.363356657567	0.35953	0.42331066520073085	0.42248	0.0812915399549	0.09147	0.30528485775	0.11194	T	0.154275	0.49549	T	-0.556219	0.00267	T	-0.617298	0.11398	T	0.0176616899531179	0.00498	T	0.692631	0.35772	T	0.121337906	0.28535	0.118776895	0.28671	0.13537592	0.31420	0.090887845	0.21339	-5.145	0.38377	T	.	.	0.346	0.56304	A	.;.;.	.;.;.	1.366320	0.17758	13.35	0.97972316942777249	0.37261	0.31133	0.24260	N	AEFDBHCI	0.280975	0.39466	N	-0.550998794398071	0.20452	1.078265	-0.585051820037171	0.19883	1.068754	0.899729536003338	0.26058	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.03	3.19	0.35720	0.265000	0.18282	0.149000	0.15269	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.004000	0.06068	0.1357:0.5715:0.1512:0.1415	3.927	0.08768	511	0.75131	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1622.98	33	chr7	23270036	.	C	G	1622.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.332;DP=852;ExcessHet=0.0000;FS=3.360;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=1.28;SOR=1.056	GT:AD:DP:GQ:PL	0/1:61,63:124:99:1637,0,1498	20	0	1	0
chr7	27095695	27095695	C	0	exonic	HOXA1	.	.	.	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	13	23	341	1132	13	2618	0.982648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	87514.16	141	chr7	27095695	.	C	T,*	87514.16	.	AC=39,2;AF=0.929,0.048;AN=42;BaseQRankSum=2.30;DP=3040;ExcessHet=0.0000;FS=1.549;InbreedingCoeff=-0.0244;MLEAC=39,2;MLEAF=0.929,0.048;MQ=60.00;MQRankSum=0.00;QD=30.42;ReadPosRankSum=-1.188e+00;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,137,0:137:99:.:.:4641,412,0,4483,412,4853	0	18	1	0
chr7	30971988	30971988	G	A	exonic	GHRHR	.	nonsynonymous SNV	GHRHR:NM_000823:exon6:c.G490A:p.V164I,	Growth hormone deficiency, isolated, type IB	.	2	1519	1	0	0	1	0.000329056	.	.	897995	Isolated_growth_hormone_deficiency_type_IB|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0013006,MedGen:C2748571,OMIM:612781,Orphanet:231671,Orphanet:631|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.007	B	0.015	B	.	.	1.000	D	-1.995	N	1.65	T	-0.978	T	0.014	T	0.199	-0.383	2.203	2.28	0.297	4.480	7.077	0.046	0.00426443491568	0.0005	0.000399361	0.0003	0	0	0	0	0.0004	0	0.0005	0.0002717	42	154602	rs138615339	0.0004	0.0004	0.0004	0.0004	0.0008	0.0004	0.0004	0.0006	0.0006	8.962e-05	0.0001	3.826e-05	0	1.873e-05	0	0.0005	0.0004	0.0008	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	0	0	0.0001	0	0	0	0	0.0005	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.005	0.12996	B	0.007	0.17295	B	.	.	.	.	1	0.81001	D	-2.12	0.00150	N	1.65	0.27650	T	0.81	0.01839	N	0.123	0.11483	-0.9776	0.35548	T	0.014	0.05608	T	9	0.04535091	0.03595	T	0.004264	0.10310	T	0.046	0.12618	.	.	0.115124310173	0.11017	0.22613659439508432	0.22528	0.0736054867805	0.08253	0.326495110989	0.14404	T	0.098787	0.40294	T	-0.490753	0.00643	T	-0.578547	0.14675	T	0.00803554803133011	0.00095	T	0.815518	0.47040	T	0.15928613	0.35789	0.084828496	0.19544	0.15928613	0.35789	0.084828496	0.19544	-0.033	0.00361	T	0.034497562002567275	0.00169	0.053	0.00254	B	.;.	.;.	0.477269	0.08466	5.227	0.27028522593130555	0.01322	0.10068	0.15675	N	AEFDGBI	0.035049	0.04446	N	-1.00353850508699	0.08529	0.4002937	-0.729661009849716	0.16224	0.8572338	0.971763106486832	0.29314	0.525926	0.21836	0	0.547309	0.14657	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	4.66	2.28	0.27583	5.012000	0.63775	4.000000	0.41065	-0.688000	0.04154	1.000000	0.71638	0.999000	0.35428	0.057000	0.15750	0.8012:0.0:0.1988:0.0	7.077	0.24388	926	0.17793	GPCR, family 2-like;GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2175.98	38	chr7	30971988	.	G	A	2175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=929;ExcessHet=0.0000;FS=7.388;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.960;SOR=0.399	GT:AD:DP:GQ:PL	0/1:98,87:185:99:2190,0,2315	20	0	1	0
chr7	32544722	32544722	A	C	exonic	AVL9	.	nonsynonymous SNV	AVL9:NM_015060:exon3:c.A243C:p.R81S,	.	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	0.993	D	0.881	P	0.000	D	0.997	D	0.875	L	1.02	T	-1.012	T	0.136	T	0.582	4.205	21.8	5.94	2.269	1.444	16.391	0.214	0.00848236662228	0.0013	0.000599042	0.0013	0	0.0005	0	0.0003	0.0019	0	0.0011	0.0011707	181	154602	rs142055726	0.0012	0.0012	0.0011	0.0013	0.0015	0.0012	0.0011	0.0013	0.0012	0.0002	0.0013	0.0020	0	0.0005	0.0012	0.0013	0.0012	0.0015	0.0011	0.0011	0.0011	0.0012	0.0020	0.0010	0.0010	0.0016	0.0015	2.405e-05	0	0.0020	0.0020	0	0.0005	0	0.0018	0.0014	0.0008	0.105	0.45039	T	0.129	0.36765	T	0.946	0.53363	P	0.741	0.55725	P	0.000004	0.62929	D	0.106321	0.996803	0.43428	D	1.74	0.45129	L	1.02	0.40749	T	-1.02	0.28290	N	0.622	0.65501	-1.0120	0.26291	T	0.136	0.45184	T	10	0.015405804	0.00323	T	0.008482	0.22432	T	0.214	0.50650	0.381	0.39807	0.578650849052	0.57535	0.42259498453967276	0.42176	0.213714179683	0.23889	0.533314406872	0.43502	T	0.009512	0.08653	T	-0.367836	0.03704	T	-0.307624	0.43915	T	0.0482502437205915	0.05189	T	0.916408	0.74459	D	0.21827748	0.44331	0.22655763	0.47637	0.21827748	0.44331	0.22655763	0.47636	-5.002	0.36861	T	.	.	0.384	0.73144	A	.;.;.;.	.;.;.;.	3.833463	0.55424	23.6	0.9974663987757717	0.83927	0.88233	0.48069	D	AEFBI	0.336994	0.43493	N	0.236596109963772	0.52980	3.469053	0.320687280970341	0.56756	3.839531	0.991145409117188	0.32388	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.94	5.94	0.96165	1.535000	0.35667	11.126000	0.86672	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.391	0.83373	705	0.57330	AVL9/DENND6 domain|Tripartite DENN domain;AVL9/DENND6 domain|Tripartite DENN domain;AVL9/DENND6 domain|Tripartite DENN domain;AVL9/DENND6 domain|Tripartite DENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1854.98	34	chr7	32544722	.	A	C	1854.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.39;DP=817;ExcessHet=0.0000;FS=6.316;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=0.069;SOR=1.015	GT:AD:DP:GQ:PL	0/1:65,72:137:99:1869,0,1435	20	0	1	0
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.995	D	0.547	P	0.460	N	1.000	N	1.39	L	2.15	T	-1.059	T	0.048	T	0.465	2.843	15.47	1.54	0.218	0.068	6.370	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	5979.44	105	chr7	47829596	.	G	C,A	5979.44	.	AC=17,3;AF=0.425,0.075;AN=40;BaseQRankSum=-3.700e-02;DP=2719;ExcessHet=43.6797;FS=321.470;InbreedingCoeff=-0.9530;MLEAC=18,3;MLEAF=0.450,0.075;MQ=60.00;MQRankSum=0.00;QD=2.79;ReadPosRankSum=-7.300e-02;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:73,54,0:127:99:.:.:413,0,994,610,1140,1749	0	0	17	1
chr7	51029496	51029496	C	T	exonic	COBL	.	nonsynonymous SNV	COBL:NM_001346442:exon10:c.G1600A:p.G534S	.	.	434	1074	13	1	0	15	0.00693481	.	.	3393280	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.99	T	0.093	B	0.008	B	0.852	N	1.000	N	0	N	2.03	T	-0.992	T	0.045	T	0.033	-0.215	2.958	-11.2	-2.254	-1.401	13.714	0.022	0.00290247126906	0.0009	0.00219649	0.0013	0.0003	0.0017	0	0.0003	0.0013	0.0011	0.0028	0.0012419	192	154602	rs146340138	0.0013	0.0013	0.0012	0.0014	0.0127	0.0012	0.0012	0.0103	0.0095	0.0004	0.0019	0.0036	0	0.0002	0.0127	0.0012	0.0018	0.0024	0.0010	0.0010	0.0010	0.0011	0.0027	0.0009	0.0009	0.0016	0.0013	0.0003	0	0.0018	0.0035	0	0	0.0102	0.0013	0.0019	0.0027	0.698	0.05737	T	0.563	0.09022	T	0.026	0.25333	B	0.003	0.13708	B	0.852074	0.07064	N	1.077970	1	0.08975	N	-0.55	0.02420	N	2.03	0.20959	T	-0.34	0.13418	N	0.021	0.05799	-0.9915	0.32218	T	0.045	0.19518	T	10	0.003693074	0.00068	T	0.002902	0.06133	T	0.031	0.07369	.	.	0.27064940482	0.26676	0.051706240809728014	0.05112	0.0565490026263	0.06250	0.233647689223	0.02249	T	0.00522	0.25867	T	-0.721413	0.00027	T	-0.813651	0.01585	T	0.00708625608592982	0.00081	T	0.60194	0.22516	T	0.01821498	0.00342	0.028061533	0.01010	0.01821498	0.00342	0.028061533	0.01009	-2.044	0.04347	T	.	.	0.086	0.11269	B	.;.;.;.	.;.;.;.	-1.302906	0.00436	0.009	0.4123044888797377	0.02961	0.03150	0.08113	N	AEFBI	0.057485	0.10712	N	-1.54288511780511	0.01576	0.06887795	-1.7336238828865	0.00996	0.04465099	0.999999999967461	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.6	-11.2	0.00099	-1.116000	0.03397	-2.595000	0.03568	-0.825000	0.02924	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5992:0.0892:0.3117	13.714	0.62163	940	0.13648	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	7597.08	35	chr7	51029496	.	C	T	7597.08	.	AC=2;AF=0.048;AN=42;DP=1564;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.55;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,178:178:99:1|1:51029496_C_T:7625,536,0:51029496	20	1	0	0
chr7	77632365	77632365	G	C	exonic	PTPN12	.	nonsynonymous SNV	PTPN12:NM_001131009:exon13:c.G1624C:p.D542H	Colon cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.927	P	0.498	P	0.011	N	0.519	D	1.245	L	3.74	T	-1.149	T	0.032	T	0.147	4.135	21.3	5.9	2.786	6.782	18.463	0.132	0.00661979020643	.	0.000399361	1.648e-05	0.0002	0	0	0	0	0	0	2.59e-05	4	154602	rs184252893	1.443e-05	1.437e-05	1.505e-05	1.38e-05	0.0007	9.27e-06	7.87e-06	0.0002	0.0002	0.0004	0	0	0	0	0.0007	0	6.647e-05	0	5.254e-05	5.25e-05	6.425e-05	4.029e-05	0.0001	2.556e-05	1.829e-05	4.728e-05	3.046e-05	0.0001	0	6.544e-05	0	0	0	0	0	0.0009	0	0.002	0.72154	D	0.122	0.38596	T	0.927	0.51527	P	0.498	0.47596	P	0.011253	0.29603	N	0.389820	0.519489	0.31885	D	1.935	0.51832	L	3.74	0.07920	T	-1.35	0.34992	N	0.303	0.36148	-1.1492	0.01049	T	0.032	0.13548	T	10	0.1255247	0.23855	T	0.00662	0.17472	T	0.132	0.35948	.	.	0.322865848456	0.31899	0.3331377111984372	0.33226	0.107576277926	0.12137	0.421340823174	0.28021	T	0.133257	0.46383	T	-0.342067	0.05246	T	-0.492463	0.23132	T	0.521535571927041	0.33422	D	0.906409	0.67021	D	0.17290151	0.38007	0.19412962	0.43019	0.17290151	0.38006	0.19412962	0.43018	-8.371	0.63572	D	.	.	0.269	0.66108	B	.;.;.	.;.;.	5.255111	0.88230	29.5	0.99656630650412292	0.77631	0.98571	0.84224	D	AEFBI	0.738419	0.68330	D	0.566909932540302	0.71118	5.602556	0.648999107713492	0.78535	6.896071	0.999910215735728	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.9	5.9	0.94952	7.275000	0.77935	11.811000	0.96937	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.463	0.90692	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1987.98	33	chr7	77632365	.	G	C	1987.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.106;DP=910;ExcessHet=0.0000;FS=2.484;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-7.270e-01;SOR=0.904	GT:AD:DP:GQ:PL	0/1:110,86:196:99:2002,0,2678	20	0	1	0
chr7	86850537	86850537	C	T	exonic	GRM3	.	nonsynonymous SNV	GRM3:NM_001363522:exon4:c.C1492T:p.L498F,	.	.	426	1089	6	1	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.001	B	.	.	1.000	N	.	.	-2.47	D	-0.422	T	0.496	T	.	1.065	9.349	0.904	0.500	0.092	7.704	0.260	0.031727895572	0.0003	0.000399361	0.0008	0	8.74e-05	0	0	0.0002	0.0011	0.0050	0.0006274	97	154602	rs56114051	0.0003	0.0003	0.0002	0.0004	0.0041	0.0003	0.0003	0.0037	0.0036	0	0	3.846e-05	2.525e-05	0	0.0014	7.643e-05	0.0002	0.0041	0.0002	0.0002	0.0002	0.0002	0.0046	0.0001	0.0001	0.0031	0.0026	4.812e-05	0	0	0	0	0	0.0034	5.882e-05	0.0005	0.0046	0.0	0.91255	D	0.146	0.32891	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.47	0.88997	D	-0.2	0.10136	N	0.162	0.17002	-0.4220	0.71326	T	0.496	0.80922	T	8	0.0053165853	0.00117	T	0.031728	0.53738	D	0.260	0.57221	.	.	0.404248775258	0.40039	.	.	.	.	.	.	.	.	.	.	-0.158734	0.26954	T	-0.00162589	0.70230	D	0.037966683980942	0.03325	T	0.276972	0.04759	T	.	.	.	.	.	.	.	.	-4.506	0.30967	T	.	.	0.077	0.06525	B	.	.	0.358079	0.07308	3.919	0.91621117344030312	0.20906	0.29431	0.23820	N	AEFGCI	0.016640	0.00387	N	-0.461538980575995	0.23350	1.253313	-0.334525504834552	0.26992	1.494691	0.372803940929474	0.19887	0.615465	0.37627	0	0.851559	0.99867	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.93	0.904	0.18433	-0.024000	0.12382	-0.059000	0.12448	-0.167000	0.11441	0.918000	0.31901	0.863000	0.27509	0.996000	0.76049	0.0:0.4547:0.0:0.5453	7.704	0.27801	456	0.79013	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3696.08	33	chr7	86850537	.	C	T	3696.08	.	AC=2;AF=0.048;AN=42;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.00;SOR=1.807	GT:AD:DP:GQ:PL	1/1:0,112:112:99:3724,335,0	20	1	0	0
chr7	92517375	92517375	C	G	exonic	PEX1	.	nonsynonymous SNV	PEX1:NM_000466:exon5:c.G1140C:p.K380N	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.363	B	0.075	B	0.019	N	1.000	N	1.04	L	-3.4	D	-0.359	T	0.603	D	0.122	0.897	8.644	3.12	0.389	0.619	4.650	0.109	0.0475338403156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.17584	T	0.336	0.25061	T	0.363	0.33965	B	0.075	0.28327	B	0.019306	0.27286	N	0.456434	1	0.08975	N	2.045	0.56016	M	-3.4	0.94469	D	-1.55	0.37566	N	0.155	0.17691	-0.3587	0.73301	T	0.603	0.85889	D	10	0.08887786	0.15343	T	0.047534	0.62965	D	0.109	0.30843	0.401	0.43081	0.716802317414	0.71431	0.3910058426918759	0.39015	0.186505350035	0.20959	0.336459964514	0.15907	T	0.062784	0.36043	T	-0.00308928	0.51229	T	-0.242214	0.50583	T	0.312265932559967	0.25507	T	0.59684	0.22875	T	0.09054874	0.21191	0.05573271	0.09829	0.09054874	0.21190	0.05573271	0.09828	-3.984	0.23563	T	0.11421790710218607	0.10084	0.114	0.29367	B	.;.	.;.	0.689255	0.10580	7.285	0.99365745136551376	0.61198	0.16758	0.19535	N	AEFBI	0.121693	0.23648	N	-0.700700529756348	0.16002	0.8114796	-0.702350992884245	0.16902	0.8963152	0.234847843809107	0.18506	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.94	3.12	0.34986	0.347000	0.19760	0.241000	0.16308	0.599000	0.40250	0.025000	0.20085	0.001000	0.17328	0.697000	0.34049	0.2559:0.5066:0.0:0.2375	4.650	0.11978	798	0.45050	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.1923	826.23	74	chr7	92517375	.	C	T,G	826.23	.	AC=4,1;AF=0.154,0.038;AN=26;BaseQRankSum=-3.290e+00;DP=1775;ExcessHet=1.1607;FS=208.468;InbreedingCoeff=-0.2780;MLEAC=6,1;MLEAF=0.231,0.038;MQ=60.00;MQRankSum=0.00;QD=1.39;ReadPosRankSum=0.648;SOR=9.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,47,0:154:99:0|1:92517375_C_T:285,0,2783,601,2914,3515:92517375	8	0	4	8
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.278	B	0.057	B	0.039	N	0.999	N	0.55	N	2.78	T	-1.004	T	0.025	T	0.135	-1.573	0.014	0.721	0.204	1.133	8.086	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	1784.86	153	chr7	93102964	.	C	G	1784.86	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-6.633e+00;DP=3581;ExcessHet=9.6308;FS=118.636;InbreedingCoeff=-0.4288;MLEAC=12;MLEAF=0.286;MQ=60.00;MQRankSum=0.00;QD=0.78;ReadPosRankSum=0.355;SOR=12.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:187,33:222:99:.:.:146,0,7065	9	0	12	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.013	B	0.007	B	0.039	N	0.999	N	1.1	L	2.77	T	-1.040	T	0.033	T	0.114	0.260	5.406	-0.384	-0.014	1.650	6.198	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4524	3255.88	153	chr7	93102965	.	C	G	3255.88	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-5.671e+00;DP=4087;ExcessHet=36.0830;FS=132.372;InbreedingCoeff=-0.8389;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.452;SOR=13.128	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:187,38:225:99:.:.:170,0,7050	2	0	19	0
chr7	100095424	100095424	G	C	exonic	MCM7	.	nonsynonymous SNV	MCM7:NM_001278595:exon11:c.C1114G:p.P372A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.544	P	0.271	B	0.000	D	1.000	D	0.64	N	3.43	T	-0.891	T	0.017	T	0.623	2.819	15.39	6.17	2.941	9.359	18.373	0.264	0.0120950979936	.	.	9.634e-05	0	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs753317834	4.721e-05	4.857e-05	1.77e-05	7.702e-05	0.0008	3.794e-05	3.476e-05	0.0006	0.0006	0	0	0	0	0	0	0	6.625e-05	0.0008	3.941e-05	3.94e-05	2.568e-05	5.377e-05	0.0012	1.715e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.577	0.08762	T	0.584	0.08390	T	0.544	0.37968	P	0.271	0.39904	B	0.000026	0.55875	D	0.122950	1	0.81001	D	1.41	0.35535	L	3.43	0.05440	T	-3.5	0.69714	D	0.514	0.54496	-0.8915	0.48802	T	0.017	0.06855	T	10	0.10683581	0.19817	T	0.012095	0.30348	T	0.264	0.57741	0.413	0.45052	0.423480098753	0.41964	0.4914550455734483	0.49066	0.294667049734	0.31886	0.554175972939	0.46446	T	0.203097	0.56146	T	-0.293689	0.09269	T	-0.31691	0.42913	T	0.251612012294001	0.22945	T	0.969436	0.89015	D	0.29971135	0.52879	0.1816631	0.41044	0.29971135	0.52879	0.1816631	0.41043	-6.083	0.46969	T	0.2263948090592401	0.30596	0.084	0.09578	B	.;.;.	.;.;.	3.270557	0.44771	22.0	0.95004743921192847	0.25970	0.98984	0.89542	D	AEFDBHCI	0.913372	0.87527	D	0.287157426551151	0.55496	3.713726	0.466724465724498	0.65799	4.869523	1.0	0.98316	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.17	6.17	0.99707	9.201000	0.94154	11.785000	0.96215	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.0:1.0:0.0	18.373	0.90364	175	0.93230	.;.;MCM domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2916.08	53	chr7	100095424	.	G	C	2916.08	.	AC=2;AF=0.048;AN=42;DP=1141;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.70;SOR=1.109	GT:AD:DP:GQ:PL	1/1:0,95:95:99:2944,285,0	20	1	0	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.002	B	0.003	B	0.012	N	1.000	N	-0.69	N	0.82	T	-1.039	T	0.045	T	0.096	1.174	9.778	2.18	0.152	0.340	7.051	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	15996.74	114	chr7	100175805	.	G	C	15996.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.177e+00;DP=2291;ExcessHet=54.0936;FS=322.385;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=7.42;ReadPosRankSum=0.978;SOR=13.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,53:116:99:0|1:100175805_G_C:1099,0,2019:100175805	0	0	21	0
chr7	100416308	100416308	C	G	exonic	ZCWPW1	.	nonsynonymous SNV	ZCWPW1:NM_001258008:exon7:c.G628C:p.A210P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996	D	0.925	D	0.126	N	1.000	N	1.04	L	0.47	T	-0.965	T	0.211	T	0.357	2.943	15.81	2.0	0.487	-0.454	3.297	0.160	0.0139127086188	.	.	1.656e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs768069661	7.53e-06	8.688e-05	6.812e-06	8.256e-06	9.899e-06	4.04e-06	2.95e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.899e-06	0	0	6.579e-06	6.569e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.017	0.64786	D	0.981	0.68779	D	0.77	0.65999	P	0.126267	0.02769	N	1.915940	1	0.08975	N	2.295	0.65404	M	0.44	0.57575	T	-1.52	0.51157	N	0.105	0.18649	-0.9651	0.38191	T	0.211	0.57134	T	9	0.07359043	0.11990	T	0.013913	0.33663	T	0.160	0.41473	0.167	0.07186	0.0846915920261	0.08053	0.2553416396724554	0.25448	0.235566991127	0.26085	0.326068282127	0.14340	T	0.032045	0.22312	T	-0.244567	0.14771	T	-0.363378	0.37660	T	0.256688277327145	0.23170	T	0.49905	0.36376	T	0.28358757	0.51390	0.2510205	0.50705	0.28358757	0.51390	0.2510205	0.50704	-4.084	0.25054	T	.	.	0.131	0.29004	B	.;.;.	.;.;.	2.654947	0.34573	19.67	0.99736852657666464	0.83192	0.04517	0.10144	N	AEFDI	0.143022	0.26562	N	-0.221500259265149	0.32253	1.816927	-0.35189881764483	0.26449	1.461059	0.00411306419695172	0.10422	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.27	2.0	0.25495	-0.453000	0.06853	-0.115000	0.11785	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.958000	0.51230	0.2112:0.5376:0.0:0.2512	3.297	0.06560	453	0.79178	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	128.88	67	chr7	100416308	.	C	G	128.88	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.008e+00;DP=1836;ExcessHet=0.6776;FS=205.333;InbreedingCoeff=-0.1450;MLEAC=3;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=0.612;SOR=11.906	GT:AD:DP:GQ:PL	0/1:54,28:82:63:63,0,995	14	0	4	3
chr7	100456874	100456874	T	C	exonic	C7orf61	.	nonsynonymous SNV	C7orf61:NM_001004323:exon3:c.A499G:p.K167E,	.	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.093	B	0.054	B	0.285	N	1.000	N	1.1	L	.	.	-1.012	T	0.069	T	0.228	2.366	13.87	0.765	0.312	1.268	3.423	0.008	0.00538080861487	.	0.00179712	0.0012	0.0001	0	0	0	0	0.0012	0.0085	0.0009379	145	154602	rs556655296	0.0005	0.0005	0.0002	0.0007	0.0079	0.0005	0.0004	0.0074	0.0072	0	0	0	0	0	0.0003	3.598e-06	0.0005	0.0079	0.0002	0.0003	0.0002	0.0003	0.0071	0.0002	0.0002	0.0052	0.0045	4.813e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0071	0.0	0.91255	D	0.0	0.92824	D	0.093	0.25333	B	0.054	0.25828	B	0.284899	0.14876	N	0.552285	1	0.08975	N	1.495	0.37439	L	.	.	.	-3.01	0.62518	D	0.303	0.34228	-1.0121	0.26259	T	0.069	0.28346	T	9	0.00404948	0.00079	T	0.005381	0.13801	T	0.008	0.00669	0.347	0.34274	0.107399877778	0.10242	0.11659926617462393	0.11587	0.507287636852	0.48913	.	.	.	0.235772	0.60310	T	-0.42292	0.01639	T	-0.374157	0.36403	T	0.109670491158198	0.13389	T	0.562644	0.19782	T	0.45883346	0.64598	0.38965398	0.63780	0.45883346	0.64599	0.38965398	0.63780	-3.647	0.18539	T	.	.	0.262	0.49693	B	.	.	2.293111	0.29335	18.09	0.99047930340268964	0.51185	0.15248	0.18818	N	AEFDBHCI	0.071098	0.14141	N	-0.691675138522135	0.16258	0.8266929	-0.713284860511812	0.16631	0.8806638	0.992308140689655	0.32792	0.656854	0.48797	0	0.69481	0.67340	0	0.505578	0.09266	0	0.635551	0.53088	0	.	.	4.48	0.765	0.17616	1.250000	0.32453	1.389000	0.26100	0.665000	0.62972	0.601000	0.27755	1.000000	0.68203	0.181000	0.21328	0.0:0.2134:0.2041:0.5825	3.423	0.06973	411	0.82069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5912.08	34	chr7	100456874	.	T	C	5912.08	.	AC=2;AF=0.048;AN=42;DP=879;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.62;SOR=0.747	GT:AD:DP:GQ:PL	1/1:0,187:187:99:5940,561,0	20	1	0	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	11054.86	98	chr7	100773851	.	A	G,*	11054.86	.	AC=6,31;AF=0.143,0.738;AN=42;DP=2409;ExcessHet=1.1607;FS=0.796;InbreedingCoeff=-0.1351;MLEAC=6,31;MLEAF=0.143,0.738;MQ=60.00;QD=4.79;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,141,0:141:99:1|1:100773851_A_G:6319,424,0,6319,424,6319:100773851	0	1	0	0
chr7	100773854	100773854	G	0	exonic	ZAN	.	.	.	.	.	428	134	463	356	141	1316	0.814276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	68137.53	98	chr7	100773854	.	G	GTT,*	68137.53	.	AC=31,6;AF=0.738,0.143;AN=42;BaseQRankSum=0.460;DP=2329;ExcessHet=1.1607;FS=0.793;InbreedingCoeff=-0.1351;MLEAC=31,6;MLEAF=0.738,0.143;MQ=60.00;MQRankSum=0.00;QD=29.50;ReadPosRankSum=0.812;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,141:141:99:1|1:100773851_A_G:6319,6319,6319,424,424,0:100773851	0	11	5	0
chr7	100868158	100868158	G	T	exonic	TRIP6	.	nonsynonymous SNV	TRIP6:NM_003302:exon3:c.G288T:p.E96D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.262	B	0.053	B	0.002	N	0.764	N	1.735	L	0.25	T	-0.967	T	0.123	T	0.1	1.947	12.47	1.7	0.348	0.067	3.431	0.033	0.0075994319735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.252	0.23570	T	0.262	0.31549	B	0.053	0.25678	B	0.001724	0.38161	N	0.250672	0.764004	0.29509	N	1.04	0.26193	L	0.25	0.59449	T	-1.06	0.27669	N	0.244	0.27554	-0.9667	0.37874	T	0.123	0.42631	T	10	0.11557481	0.21777	T	0.007599	0.20166	T	0.033	0.08068	0.159	0.06287	0.52635699587	0.52282	0.36726145325230936	0.36640	0.294708336404	0.31886	0.675391256809	0.63609	T	0.02655	0.19622	T	-0.114338	0.34053	T	-0.402015	0.33151	T	0.173788579307855	0.18834	T	0.732227	0.34774	T	0.15142912	0.34425	0.15788019	0.36896	0.15142912	0.34425	0.15788019	0.36895	-7.236	0.55739	T	.	.	0.183	0.39630	B	.	.	2.191259	0.27940	17.63	0.9762922814671311	0.35012	0.47451	0.27986	N	ALL	0.292725	0.40352	N	-0.350107705092659	0.27267	1.494703	-0.315627889682366	0.27593	1.532257	0.999999999950848	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.66	1.7	0.23359	-0.085000	0.11215	2.952000	0.35717	0.676000	0.76740	0.915000	0.31815	1.000000	0.68203	0.724000	0.34901	0.2169:0.0:0.5811:0.202	3.431	0.07000	705	0.57330	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3917.08	36	chr7	100868158	.	G	T	3917.08	.	AC=2;AF=0.048;AN=42;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.64;SOR=0.726	GT:AD:DP:GQ:PL	1/1:0,120:120:99:3945,360,0	20	1	0	0
chr7	100952482	100952482	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A703G:p.S235G,	.	.	399	1114	9	0	0	9	0.00402325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	.	.	0.345	N	.	.	-0.993	T	0.063	T	0.131	0.622	7.348	0.393	0.097	0.439	4.798	0.049	.	.	.	0.0094	0.0041	0.0246	0.0565	0.0041	0.0013	0.0047	0.0108	0.0071991	1113	154602	rs762341908	0.0007	0.0043	0.0007	0.0007	0.0128	0.0006	0.0006	0.0118	0.0114	0.0003	0.0039	0	0.0128	0.0010	0.0005	0.0001	0.0009	0.0014	0.0048	0.0059	0.0042	0.0054	0.0568	0.0045	0.0044	0.0514	0.0493	0.0030	0	0.0078	0	0.0568	0.0043	0	0.0011	0.0071	0.0121	0.0	0.91255	D	0.045	0.49390	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.09354	N	.	.	.	-2.14	0.48523	N	0.028	0.00882	-0.9930	0.31827	T	0.063	0.26172	T	5	0.0028196573	0.00045	T	.	.	.	0.049	0.13647	.	.	0.0297737177859	0.01360	0.06476662103955722	0.06415	.	.	.	.	.	.	.	.	-0.224203	0.17424	T	-0.559828	0.16394	T	0.0110277637410068	0.00159	T	0.359064	0.08235	T	0.03313288	0.03473	0.05993371	0.11332	0.03313288	0.03473	0.05993371	0.11331	-4.816	0.34777	T	.	.	0.127	0.27100	B	.;.	.;.	0.382560	0.07547	4.195	0.70278890112480152	0.09244	0.02841	0.07592	N	AEFDBI	0.094914	0.19185	N	-0.810609427635655	0.13038	0.6395816	-0.986195816652993	0.10094	0.5062862	0.998344668229717	0.36796	0.538715	0.22204	0	0.596491	0.49125	0	0.78367	0.99111	0	0.663205	0.64265	0	.	.	1.61	0.393	0.15517	0.057000	0.14157	-0.306000	0.10077	-0.825000	0.02924	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.8085:0.0:0.1915:0.0	4.798	0.12651	809	0.43032	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	9638.11	417	chr7	100952482	.	A	G	9638.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.270e+00;DP=8868;ExcessHet=0.1072;FS=1.166;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=1.37;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:266,199:465:99:0|1:100952482_A_G:7304,0,10311:100952482	19	0	2	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	358.48	781	chr7	100952945	.	C	*,A	358.48	.	AC=19,2;AF=0.452,0.048;AN=42;BaseQRankSum=1.12;DP=13562;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=19,2;MLEAF=0.452,0.048;MQ=58.45;MQRankSum=-8.589e+00;QD=0.03;ReadPosRankSum=1.76;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:565,154,157:876:99:0|1:100952942_T_G:4892,126,23387,0,17258,23252:100952942	0	0	19	0
chr7	100953028	100953028	-	GTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC	exonic	MUC3A	.	frameshift insertion	MUC3A:NM_005960:exon2:c.1249_1250insGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC:p.A417Gfs*177,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	36435.43	913	chr7	100953028	.	G	A,GGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC	36435.43	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-2.516e+00;DP=15155;ExcessHet=17.4423;FS=4.148;InbreedingCoeff=-0.5556;MLEAC=14,1;MLEAF=0.333,0.024;MQ=57.92;MQRankSum=-3.081e+00;QD=3.07;ReadPosRankSum=3.23;SOR=1.199	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:841,140,0:981:99:0|1:100953014_G_A:3347,0,34891,5879,35312,41191:100953014	6	0	14	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	25169.59	570	chr7	100953156	.	C	T,*	25169.59	.	AC=6,16;AF=0.143,0.381;AN=42;BaseQRankSum=6.06;DP=11437;ExcessHet=43.6797;FS=8.756;InbreedingCoeff=-0.9091;MLEAC=6,16;MLEAF=0.143,0.381;MQ=57.66;MQRankSum=-1.630e+01;QD=2.22;ReadPosRankSum=-4.630e-01;SOR=1.261	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,470,113:583:99:.:.:19000,4704,3294,15249,0,19899	0	0	5	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	1141.98	562	chr7	100953158	.	G	*,T	1141.98	.	AC=18,2;AF=0.429,0.048;AN=42;BaseQRankSum=5.93;DP=11248;ExcessHet=43.6797;FS=14.318;InbreedingCoeff=-0.9091;MLEAC=18,2;MLEAF=0.429,0.048;MQ=57.68;MQRankSum=-1.628e+01;QD=0.11;ReadPosRankSum=-5.200e-01;SOR=1.607	GT:AD:DP:GQ:PL	0/1:430,106,31:583:99:3157,0,17737,3149,16754,21112	1	0	18	0
chr7	100953225	100953225	G	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	2681.5	334	chr7	100953225	.	G	A,*	2681.5	.	AC=9,3;AF=0.265,0.088;AN=34;BaseQRankSum=4.49;DP=8651;ExcessHet=9.6308;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=10,3;MLEAF=0.294,0.088;MQ=58.08;MQRankSum=-1.903e+01;QD=0.52;ReadPosRankSum=-5.501e+00;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:418,35,0:453:99:.:.:181,0,17135,1420,17130,18771	5	0	9	4
chr7	100953371	100953371	C	0	exonic	MUC3A	.	.	.	.	.	991	251	197	25	58	305	0.329773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	122869.23	574	chr7	100953371	.	C	A,*	122869.23	.	AC=20,2;AF=0.476,0.048;AN=42;BaseQRankSum=-2.807e+00;DP=13314;ExcessHet=43.6797;FS=5.958;InbreedingCoeff=-0.9091;MLEAC=20,2;MLEAF=0.476,0.048;MQ=57.56;MQRankSum=-1.348e+01;QD=10.82;ReadPosRankSum=0.229;SOR=1.110	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,190,367:655:99:.:.:23746,15390,15352,8363,0,7259	0	0	19	0
chr7	100953490	100953490	G	0	exonic	MUC3A	.	.	.	.	.	745	492	219	17	49	302	0.204527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	36352.82	833	chr7	100953490	.	G	T,*	36352.82	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=-2.232e+00;DP=18586;ExcessHet=36.0830;FS=0.000;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.405,0.048;MQ=57.38;MQRankSum=-1.467e+01;QD=2.05;ReadPosRankSum=5.58;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:782,117,0:899:99:0|1:100953486_C_A:2513,0,32484,4867,32836,37703:100953486	2	0	17	0
chr7	100953548	100953548	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1769T:p.T590I,	.	.	874	413	160	24	51	259	0.201161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357514460	0.0006	0.0062	0.0004	0.0007	0.0021	0.0005	0.0005	0.0013	0.0010	0.0003	0.0006	0.0002	4.417e-05	0.0005	0.0006	0.0006	0.0004	0.0021	2.746e-05	0.0091	1.343e-05	4.212e-05	0.0004	8.42e-06	5.33e-06	7.232e-05	3.008e-05	0	0	6.811e-05	0	0.0004	9.921e-05	0	0	0	0	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.117088854	0.22104	T	.	.	.	.	.	.	.	.	.	0.03503252016017476	0.03450	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347765	0.07665	T	.	.	.	.	.	.	.	.	-7.218	0.55610	T	.	.	0.207	0.43352	B	.;.	.;.	1.622838	0.20726	14.88	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.220000	0.32095	0.001000	0.13291	0.470000	0.21925	0.001000	0.13787	0.000000	0.08366	0.044000	0.14658	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4286	33287.25	909	chr7	100953548	.	C	G,T	33287.25	.	AC=15,3;AF=0.357,0.071;AN=42;BaseQRankSum=1.28;DP=19526;ExcessHet=30.0624;FS=0.819;InbreedingCoeff=-0.7477;MLEAC=15,3;MLEAF=0.357,0.071;MQ=55.79;MQRankSum=-8.386e+00;QD=1.94;ReadPosRankSum=3.82;SOR=0.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:909,67,0:976:77:0|1:100953499_A_*:77,0,37967,2813,38169,40982:100953499	3	0	15	0
chr7	100953716	100953716	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1937T:p.S646F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1454143522	4.135e-05	0.0006	3.977e-05	4.281e-05	0.0004	2.405e-05	1.875e-05	0.0001	8.058e-05	0	0	0	3.856e-05	7.857e-05	0	1.017e-05	0.0002	0.0004	0.0019	0.0049	0.0017	0.0021	0.0268	0.0017	0.0017	0.0231	0.0216	0.0010	0	0.0028	0	0.0268	0.0018	0	0.0003	0.0033	0.0065	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.06059	.	.	.	.	.	.	.	0.0052519143	0.00115	T	.	.	.	.	.	.	.	.	.	0.043221190383091725	0.04267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.532447	0.17709	T	.	.	.	.	.	.	.	.	-7.134	0.55006	T	.	.	0.272	0.50627	B	.;.	.;.	1.135763	0.15225	11.69	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562000	0.06041	-11.604000	0.00590	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	11569.11	634	chr7	100953716	.	C	T	11569.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.31;DP=15550;ExcessHet=0.1072;FS=2.041;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.28;MQRankSum=1.97;QD=7.50;ReadPosRankSum=-2.230e-01;SOR=0.870	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:538,288:826:99:0|1:100953680_T_A:10474,0,21724:100953680	19	0	2	0
chr7	100955012	100955012	G	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.G3233A:p.R1078K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.317e-06	0.0001	4.898e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	3.939e-05	0	8.995e-06	0.0019	0	1.83e-05	0.0003	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	.	.	.	0.126	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.01740	.	.	.	.	.	.	.	0.07244828	0.10815	T	.	.	.	.	.	.	.	.	.	0.042076156409536575	0.04152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251175	0.03802	T	.	.	.	.	.	.	.	.	-6.363	0.49220	T	.	.	0.154	0.34049	B	.;.	.;.	0.226431	0.06082	2.525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.247000	0.03004	-9.307000	0.00838	-0.269000	0.06763	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	24713.07	719	chr7	100955012	.	G	C,A	24713.07	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-1.062e+00;DP=13307;ExcessHet=17.4423;FS=13.525;InbreedingCoeff=-0.5721;MLEAC=14,1;MLEAF=0.333,0.024;MQ=56.37;MQRankSum=-1.052e+01;QD=2.42;ReadPosRankSum=0.662;SOR=2.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:658,145,0:803:99:.:.:4108,0,27193,6089,27629,33718	6	0	14	0
chr7	100955586	100955586	T	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	47603.67	377	chr7	100955586	.	T	A,*	47603.67	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=-3.380e+00;DP=9878;ExcessHet=25.1139;FS=6.754;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.66;MQRankSum=-1.812e+01;QD=5.71;ReadPosRankSum=-7.510e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:418,153,0:571:99:0|1:100955586_T_A:5166,0,17091,6424,17552,23976:100955586	3	0	14	1
chr7	100955587	100955587	G	0	exonic	MUC3A	.	.	.	.	.	948	292	244	32	6	314	0.345291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	46737.11	377	chr7	100955587	.	G	C,*	46737.11	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=0.104;DP=9885;ExcessHet=25.1139;FS=6.502;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.65;MQRankSum=-1.817e+01;QD=5.55;ReadPosRankSum=-6.860e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:423,153,0:576:99:0|1:100955586_T_A:5151,0,17301,6424,17762,24186:100955586	3	0	14	1
chr7	100955917	100955917	G	0	exonic	MUC3A	.	.	.	.	.	766	657	81	4	14	103	0.0634355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	30532.88	499	chr7	100955917	.	G	C,*	30532.88	.	AC=10,3;AF=0.278,0.083;AN=36;BaseQRankSum=-1.985e+00;DP=19448;ExcessHet=11.8493;FS=4.100;InbreedingCoeff=-0.5273;MLEAC=11,3;MLEAF=0.306,0.083;MQ=56.33;MQRankSum=-1.229e+01;QD=2.43;ReadPosRankSum=2.52;SOR=1.144	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:929,0,111:1040:99:0|1:100955895_T_A:1864,4661,43669,0,39009,38674:100955895	5	0	10	3
chr7	100955959	100955959	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A4180G:p.T1394A,	.	.	768	680	56	1	17	75	0.0409027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175400681	7.904e-05	0.0004	3.921e-05	0.0001	0.0008	5.602e-05	4.861e-05	0.0005	0.0004	0	5.076e-05	0.0003	0	0	0	2.158e-05	0.0001	0.0008	0.0006	0.0032	0.0006	0.0006	0.0031	0.0005	0.0005	0.0019	0.0015	0.0002	0.0025	0.0014	0.0009	0	9.978e-05	0.0040	0.0006	0.0020	0.0031	.	.	.	0.216	0.26306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.11744994	0.22181	T	.	.	.	.	.	.	.	.	.	0.03036875277365848	0.02985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260974	0.04439	T	.	.	.	.	.	.	.	.	-7.243	0.55789	T	.	.	0.110	0.21125	B	.;.	.;.	0.622094	0.09905	6.665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465000	0.21715	-2.074000	0.04252	0.688000	0.82842	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4048	23255.17	557	chr7	100955959	.	ACC	A,GCC	23255.17	.	AC=15,2;AF=0.357,0.048;AN=42;BaseQRankSum=3.10;DP=16785;ExcessHet=25.1139;FS=4.174;InbreedingCoeff=-0.6800;MLEAC=15,2;MLEAF=0.357,0.048;MQ=57.02;MQRankSum=-1.169e+01;QD=1.66;ReadPosRankSum=-1.368e+00;SOR=1.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:886,88,0:974:99:0|1:100955895_T_A:1028,0,36938,3695,37203,40898:100955895	4	0	15	0
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	87422.78	564	chr7	100960582	.	T	A,*	87422.78	.	AC=15,6;AF=0.357,0.143;AN=42;BaseQRankSum=0.858;DP=12953;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=15,6;MLEAF=0.357,0.143;MQ=60.00;MQRankSum=0.00;QD=6.90;ReadPosRankSum=0.163;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:380,285,0:665:99:0|1:100960582_T_A:10816,0,14985,11959,15843,27802:100960582	0	0	15	0
chr7	100996634	100996634	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G6071A:p.S2024N,	.	.	508	989	25	0	0	25	0.0124813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	.	.	.	.	.	.	1.000	N	0	N	2.68	T	-0.967	T	0.016	T	0.071	0.061	4.330	-0.282	-0.107	-0.487	4.461	0.012	0.0140274259014	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs201009895	5.919e-05	0.0006	4.745e-05	7.066e-05	0.0006	4.615e-05	4.185e-05	0.0002	0.0001	0.0001	0.0004	0.0003	0.0002	0.0002	0.0006	1.515e-05	0	0.0002	0.0004	0.0023	0.0003	0.0005	0.0015	0.0003	0.0003	0.0010	0.0008	0.0005	0	0.0015	0	0.0006	0	0	0.0002	0.0005	0.0009	0.0	0.91255	D	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.935	0.51832	L	2.68	0.12371	T	-0.86	0.23372	N	0.092	0.07125	-0.9669	0.37834	T	0.016	0.06569	T	7	0.093948334	0.16667	T	0.014027	0.33868	T	0.012	0.01476	.	.	0.0138822411134	0.00435	0.011766040700622862	0.01136	.	.	0.429456561804	0.29133	T	0.002718	0.02115	T	-0.345439	0.05020	T	-0.733975	0.04149	T	0.0890976508453012	0.11110	T	0.294071	0.05429	T	0.09936937	0.23451	0.10994819	0.26504	0.09936937	0.23451	0.10994819	0.26504	-9.028	0.74568	D	.	.	0.456	0.62523	A	.;.	.;.	0.209536	0.05930	2.373	0.59872127429762345	0.06327	0.00265	0.01446	N	AEFI	0.043864	0.06987	N	-0.914581382338609	0.10501	0.5020716	-1.0763760444893	0.08167	0.4003712	1.18008797771581E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.891	-0.282	0.12241	-0.717000	0.05088	-0.805000	0.07358	-0.596000	0.04633	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4236:0.5764:0.0	4.461	0.11085	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	82.98	43	chr7	100996634	.	G	A	82.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.569e+00;DP=1357;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=36.19;MQRankSum=-4.595e+00;QD=2.24;ReadPosRankSum=-2.720e-01;SOR=0.064	GT:AD:DP:GQ:PL	0/1:30,7:37:97:97,0,1030	20	0	1	0
chr7	101000543	101000543	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C9980T:p.T3327M,	.	.	351	1146	25	0	0	25	0.0107898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	.	.	.	.	.	.	1.000	N	0	N	2.7	T	-0.970	T	0.018	T	0.069	-0.954	0.335	0.109	0.181	0.447	.	0.037	.	.	.	0.0020	0.0056	0.0143	0.0031	0	0.0027	0	0.0009	0.0013447	35	26028	rs200862596	0.0002	0.0027	0.0002	0.0002	0.0038	0.0002	0.0001	0.0025	0.0021	0.0004	0.0005	0.0012	0.0002	2.842e-05	0.0038	6.508e-05	0.0003	0.0008	0.0003	0.0058	0.0003	0.0004	0.0015	0.0003	0.0002	0.0007	0.0005	0.0004	0.0011	0.0008	0.0009	0.0004	0	0.0034	7.366e-05	0.0010	0.0015	0.002	0.72154	D	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.935	0.51832	L	2.7	0.12162	T	-2.36	0.52128	N	0.082	0.09349	-0.9696	0.37283	T	0.018	0.07234	T	6	0.005289614	0.00116	T	.	.	.	0.037	0.09474	.	.	0.0401082797425	0.02173	0.080728544459771	0.08007	.	.	0.525411248207	0.42388	T	0.008387	0.07706	T	-0.334029	0.05812	T	-0.717586	0.04913	T	0.042281387178106	0.04106	T	0.470053	0.16548	T	0.07458075	0.16745	0.11649555	0.28123	0.07458075	0.16745	0.11649555	0.28122	-9.68	0.71974	D	.	.	0.157	0.38871	B	.;.	.;.	1.736372	0.22098	15.48	0.35006739647171087	0.02173	0.00834	0.03351	N	AEFBI	0.040454	0.06020	N	-0.921885750160492	0.10331	0.4931725	-1.11293639666123	0.07453	0.3625532	1.17319446599152E-5	0.02871	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	0.077000	0.14593	-0.243000	0.10574	0.301000	0.18947	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	852.98	419	chr7	101000543	.	C	T	852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.645;DP=22425;ExcessHet=0.0000;FS=17.072;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.17;MQRankSum=-5.715e+00;QD=0.77;ReadPosRankSum=4.83;SOR=1.542	GT:AD:DP:GQ:PL	0/1:961,149:1110:99:867,0,24298	20	0	1	0
chr7	101031607	101031607	C	A	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C191A:p.A64E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.979	D	0.458	P	.	.	1.000	N	0.345	N	4.17	T	-0.978	T	0.006	T	0.128	-1.669	0.012	-1.8	-2.432	-5.771	7.128	0.145	0.000307874352979	.	.	.	.	.	.	.	.	.	.	.	.	.	rs761973973	3.634e-06	4.104e-06	2.855e-06	4.442e-06	5.633e-05	1.07e-06	7.7e-07	1.915e-05	1.086e-05	0	0	0	0	0	0	0	1.764e-05	5.633e-05	6.571e-06	6.566e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	.	.	.	0.979	0.59044	D	0.458	0.46341	P	.	.	.	.	1	0.08975	N	0	0.06538	N	4.17	0.02767	T	-0.38	0.13418	N	0.129	0.12341	-0.9777	0.35526	T	0.006	0.01944	T	9	0.09314597	0.16459	T	3.08E-4	0.00027	T	0.145	0.38592	0.297	0.26202	0.0297737177859	0.01360	0.01612252122412488	0.01568	.	.	0.293798089027	0.09479	T	0.017782	0.14448	T	-0.466553	0.00894	T	-0.727037	0.04462	T	0.101327414808018	0.12503	T	0.214779	0.02659	T	0.11806185	0.27823	0.13540822	0.32421	0.11806185	0.27823	0.13540822	0.32420	-3.889	0.22137	T	.	.	0.121	0.25199	B	.	.	-1.260568	0.00473	0.010	0.33198842831892555	0.01965	0.00066	0.00474	N	AEFBI	0.035985	0.04722	N	-1.84567987122775	0.00443	0.01904297	-2.05685805278225	0.00231	0.01019016	9.62459339351739E-4	0.08067	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	0.902	-1.8	0.07480	-3.329000	0.00565	-5.712000	0.01621	-2.768000	0.00193	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4802:0.0:0.5198	7.128	0.24659	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2633.08	42	chr7	101031607	.	C	A	2633.08	.	AC=2;AF=0.048;AN=42;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.51;SOR=1.581	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2661,243,0	20	1	0	0
chr7	110886658	110886658	G	A	exonic	IMMP2L	.	nonsynonymous SNV	IMMP2L:NM_032549:exon5:c.C343T:p.R115C	.	.	419	1102	1	0	0	1	0.000453515	.	.	722249	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.83	P	0.109	B	0.001	N	1.000	D	2.63	M	.	.	-0.536	T	0.166	T	0.455	3.480	17.80	5.58	2.625	5.345	19.551	0.171	.	0.0015	0.00119808	0.0004	0.0041	0.0002	0	0	4.507e-05	0	0	0.000414	64	154602	rs34279428	0.0001	0.0001	0.0001	0.0001	0.0051	0.0001	0.0001	0.0045	0.0042	0.0051	0.0001	0	0	0	0	1.447e-05	0.0002	1.162e-05	0.0013	0.0013	0.0014	0.0012	0.0046	0.0012	0.0011	0.0041	0.0039	0.0046	0	0.0001	0	0	0	0	4.414e-05	0.0009	0	0.011	0.61437	D	0.035	0.70582	D	0.83	0.46087	P	0.109	0.31370	B	0.001468	0.38917	N	0.287736	0.999255	0.48800	D	2.345	0.67358	M	.	.	.	-4.08	0.75695	D	0.529	0.55799	-0.5356	0.67330	T	0.166	0.50356	T	9	0.014022827	0.00296	T	.	.	.	0.171	0.43483	.	.	0.660250038783	0.65740	0.5337411138613091	0.53299	0.388330317616	0.40095	0.390978336334	0.23807	T	0.641629	0.89018	D	-0.282572	0.10397	T	-0.17813	0.56697	T	0.0782475171148081	0.09762	T	0.985101	0.94867	D	0.21074416	0.43380	0.20973466	0.45331	0.21074416	0.43380	0.20973466	0.45330	-7.312	0.56281	T	.	.	0.302	0.53135	B	.;.;.;.	.;.;.;.	4.929330	0.81258	27.5	0.99819102710340923	0.90238	0.92877	0.56766	D	AEFI	0.798821	0.72526	D	0.489315366690386	0.66463	4.953572	0.547792537192915	0.71244	5.625338	0.638107337056266	0.22028	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.58	5.58	0.84361	5.614000	0.67376	9.734000	0.81410	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.551	0.95314	639	0.64210	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2470.98	36	chr7	110886658	.	G	A	2470.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.531;DP=923;ExcessHet=0.0000;FS=0.507;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=0.924;SOR=0.750	GT:AD:DP:GQ:PL	0/1:102,105:207:99:2485,0,2304	20	0	1	0
chr7	113877833	113877833	T	C	exonic	PPP1R3A	.	nonsynonymous SNV	PPP1R3A:NM_002711:exon4:c.A3259G:p.I1087V,	Insulin resistance, severe, digenic, Autosomal dominant	.	2	1517	3	0	0	3	0.000987817	.	.	380218	Monogenic_diabetes	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.535	N	1.000	N	-1.1	N	2.59	T	-0.948	T	0.002	T	0.011	-1.885	0.008	1.73	0.407	-0.138	6.212	0.027	.	0.0078	0.00878594	0.0024	0.0271	0.0011	0	0	1.506e-05	0.0011	0	0.0023609	365	154602	rs77456357	0.0007	0.0007	0.0008	0.0006	0.0256	0.0007	0.0007	0.0242	0.0236	0.0256	0.0016	0	0	5.624e-05	0.0017	1.263e-05	0.0017	5.805e-05	0.0074	0.0074	0.0078	0.0069	0.0249	0.0070	0.0069	0.0236	0.0231	0.0249	0	0.0047	0	0	0	0.0034	2.943e-05	0.0047	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.535134	0.11595	N	0.777423	1	0.08975	N	-1.655	0.00384	N	2.59	0.13317	T	0.24	0.04533	N	0.036	0.01068	-0.9484	0.41245	T	0.002	0.00556	T	10	0.0032697022	0.00056	T	.	.	.	0.027	0.05988	.	.	0.311691414656	0.30774	0.14875443885196615	0.14797	0.03888108303	0.04135	0.366930782795	0.20390	T	0.074485	0.34948	T	-0.772212	0.00012	T	-0.863082	0.00810	T	0.00236553781470215	0.00024	T	0.150785	0.01278	T	0.024582654	0.01305	0.027790096	0.00959	0.025673524	0.01531	0.031080477	0.01647	-2.612	0.06595	T	.	.	0.068	0.02927	B	.	.	-0.049798	0.03950	0.883	0.32219653544029903	0.01856	0.06046	0.12015	N	AEI	0.040097	0.05916	N	-1.12260309960136	0.06242	0.2868412	-0.871656918258421	0.12768	0.6586735	1.61980774038525E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.85	1.73	0.23565	-0.122000	0.10602	-0.165000	0.11284	-0.806000	0.03109	0.882000	0.31029	0.005000	0.19230	0.880000	0.42090	0.0947:0.5395:0.2446:0.1212	6.212	0.19846	803	0.44167	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	3103.11	37	chr7	113877833	.	T	C	3103.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.872;DP=946;ExcessHet=0.1072;FS=2.006;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.668;SOR=0.831	GT:AD:DP:GQ:PL	0/1:70,65:135:99:1641,0,1728	19	0	2	0
chr7	113878048	113878048	T	C	exonic	PPP1R3A	.	nonsynonymous SNV	PPP1R3A:NM_002711:exon4:c.A3044G:p.N1015S,	Insulin resistance, severe, digenic, Autosomal dominant	.	2	1516	4	0	0	4	0.00131752	.	.	380219	Monogenic_diabetes	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.000	N	1.000	N	-1.575	N	2.96	T	-0.929	T	0.001	T	0.008	-2.616	0	3.46	0.150	0.191	7.645	0.207	.	0.0078	0.00878594	0.0024	0.0272	0.0010	0	0	1.501e-05	0.0011	0	0.0023674	366	154602	rs149701175	0.0007	0.0007	0.0008	0.0006	0.0258	0.0007	0.0007	0.0243	0.0238	0.0258	0.0016	0	0	0	0.0017	1.169e-05	0.0017	4.638e-05	0.0074	0.0074	0.0078	0.0069	0.0249	0.0070	0.0069	0.0236	0.0231	0.0249	0	0.0047	0	0	0	0.0034	2.944e-05	0.0047	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000015	0.62929	N	0.072255	0.999991	0.08975	N	-1.08	0.01032	N	2.96	0.09542	T	1.0	0.01408	N	0.053	0.02462	-0.9287	0.44328	T	0.001	0.00408	T	10	0.0026070774	0.00040	T	.	.	.	0.207	0.49555	.	.	0.167679373172	0.16340	0.05992063532502244	0.05932	0.0376571858437	0.03997	0.248303443193	0.03591	T	0.092463	0.39010	T	-0.777386	0.00011	T	-0.869841	0.00744	T	0.00382190171224252	0.00040	T	0.244176	0.03564	T	0.030320479	0.02674	0.04421515	0.05680	0.03207741	0.03164	0.041361663	0.04684	-2.561	0.06212	T	.	.	0.048	0.00092	B	.	.	-0.054144	0.03923	0.868	0.098886851743402768	0.00111	0.04283	0.09824	N	AEFI	0.046324	0.07681	N	-1.2716290203423	0.04021	0.1807302	-1.08428062319663	0.08009	0.391976	9.67714788612843E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.71	3.46	0.38718	0.214000	0.17331	0.517000	0.19131	-0.171000	0.11205	0.892000	0.31242	0.071000	0.22219	0.388000	0.26514	0.0:0.7004:0.1275:0.1721	7.645	0.27484	803	0.44167	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	3320.11	37	chr7	113878048	.	T	C	3320.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.74;DP=964;ExcessHet=0.1072;FS=1.398;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=1.27;SOR=0.711	GT:AD:DP:GQ:PL	0/1:83,66:149:99:1718,0,2157	19	0	2	0
chr7	113879378	113879378	T	C	exonic	PPP1R3A	.	nonsynonymous SNV	PPP1R3A:NM_002711:exon4:c.A1714G:p.I572V,	Insulin resistance, severe, digenic, Autosomal dominant	.	1	1518	3	0	0	3	0.000987167	.	.	380224	Monogenic_diabetes	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.82	T	0.001	B	0.0	B	0.819	N	1.000	N	0.92	L	2.43	T	-0.963	T	0.004	T	0.008	1.075	9.387	-2.49	-0.675	-3.155	7.668	0.011	.	0.0078	0.00878594	0.0024	0.0269	0.0010	0	0	1.5e-05	0.0011	0	0.0023674	366	154602	rs35398707	0.0007	0.0007	0.0008	0.0006	0.0258	0.0007	0.0007	0.0244	0.0238	0.0258	0.0016	0	0	0	0.0017	9.894e-06	0.0017	4.637e-05	0.0074	0.0074	0.0078	0.0069	0.0250	0.0070	0.0069	0.0237	0.0232	0.0250	0	0.0047	0	0	0	0.0034	2.942e-05	0.0047	0.0004	0.263	0.16412	T	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.819406	0.06875	N	1.082130	1	0.08975	N	0.665	0.16292	N	2.43	0.15261	T	-0.19	0.09965	N	0.037	0.01135	-0.9625	0.38704	T	0.004	0.01470	T	10	0.004051864	0.00079	T	.	.	.	0.011	0.01250	.	.	0.248417906384	0.24464	0.06968805825191646	0.06906	0.0392707081653	0.04187	0.204850181937	0.00611	T	0.067599	0.33242	T	-0.791876	0.00009	T	-0.891328	0.00565	T	0.00747437426451947	0.00086	T	0.288071	0.05188	T	0.027517054	0.01954	0.03079616	0.01580	0.026632449	0.01745	0.028771527	0.01144	-3.05	0.10730	T	.	.	0.073	0.04599	B	.	.	-1.775577	0.00166	0.002	0.27719203068987647	0.01389	0.01439	0.04834	N	AEFBI	0.071112	0.14143	N	-1.65214074451169	0.01026	0.04449173	-1.66048668601567	0.01322	0.05968186	2.58551790538712E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.95	-2.49	0.06034	-2.239000	0.01281	-6.418000	0.01404	-0.996000	0.01829	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4377:0.1214:0.4409	7.668	0.27611	802	0.44336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4529.11	124	chr7	113879378	.	T	C	4529.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.95;DP=2936;ExcessHet=0.1072;FS=9.329;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=1.15;SOR=1.112	GT:AD:DP:GQ:PL	0/1:83,88:171:99:2302,0,2133	19	0	2	0
chr7	124032666	124032666	C	T	exonic	TMEM229A	.	nonsynonymous SNV	TMEM229A:NM_001136002:exon1:c.G338A:p.R113H,	.	.	425	1086	11	0	0	11	0.00503894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.089	B	0.006	B	.	.	0.866	N	0.695	N	.	.	-1.020	T	0.056	T	0.177	2.553	14.50	0.305	0.053	1.391	1.598	0.028	.	0.0004	0.00239617	0.0036	0.0005	0.0051	0	0	0.0005	0	0.0080	0.0005757	89	154602	rs144450298	0.0010	0.0010	0.0008	0.0012	0.0083	0.0010	0.0010	0.0078	0.0076	0.0002	0.0006	0	0	0	0.0019	0.0006	0.0011	0.0083	0.0006	0.0006	0.0007	0.0006	0.0079	0.0005	0.0005	0.0059	0.0052	0.0001	0	0.0002	0	0	9.414e-05	0	0.0007	0.0005	0.0079	0.006	0.61437	D	0.024	0.56640	D	0.089	0.25085	B	0.006	0.12133	B	.	.	.	.	0.865945	0.28283	N	2.125	0.59049	M	.	.	.	-0.56	0.17003	N	0.188	0.20528	-1.0199	0.23747	T	0.056	0.23450	T	8	0.006305933	0.00142	T	.	.	.	0.028	0.06331	.	.	0.0297737177859	0.01360	0.12003498779184024	0.11930	.	.	0.474432051182	0.35291	T	0.002412	0.01807	T	-0.443479	0.01234	T	-0.405659	0.32727	T	0.0481981118726475	0.05180	T	0.631037	0.24617	T	0.118145704	0.27840	0.11601279	0.28006	0.118145704	0.27840	0.11601279	0.28006	-4.034	0.24311	T	.	.	0.094	0.14431	B	.	.	3.402265	0.47155	22.4	0.99706258510485657	0.81005	0.34876	0.25170	N	AEFDBHCIJ	0.251659	0.37149	N	-0.749543025611516	0.14646	0.7313188	-0.692017132504716	0.17160	0.911189	0.993943577265962	0.33421	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.66	0.305	0.15048	0.967000	0.28941	1.246000	0.25138	-0.326000	0.05813	0.898000	0.31380	1.000000	0.68203	0.916000	0.45140	0.2154:0.4446:0.2108:0.1292	1.598	0.02506	833	0.38804	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1161.98	36	chr7	124032666	.	C	T	1161.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.687;DP=875;ExcessHet=0.0000;FS=2.664;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-5.800e-02;SOR=0.990	GT:AD:DP:GQ:PL	0/1:54,43:97:99:1176,0,1428	20	0	1	0
chr7	128338270	128338270	A	T	exonic	RBM28	.	nonsynonymous SNV	RBM28:NM_018077:exon5:c.T521A:p.M174K,	.	.	.	.	.	.	.	.	.	.	.	2363599	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.271	B	0.21	B	0.000	D	1.000	D	1.735	L	-0.98	T	-0.615	T	0.296	T	0.623	3.160	16.57	2.63	0.805	2.491	6.957	0.478	0.0677169968	0.0002	0.000199681	4.123e-05	0.0005	0	0	0	0	0	0	3.88e-05	6	154602	rs143238762	1.3e-05	1.3e-05	1.634e-05	9.626e-06	0.0004	8.31e-06	6.7e-06	0.0002	0.0002	0.0004	4.472e-05	0	0	0	0	2.698e-06	3.312e-05	0	0.0001	0.0001	0.0001	0.0001	0.0003	7.569e-05	6.275e-05	0.0002	0.0001	0.0003	0	0.0002	0	0	0	0	0	0.0009	0	0.008	0.58626	D	0.062	0.45318	T	0.271	0.31796	B	0.21	0.37304	B	0.000035	0.55875	D	0.214383	0.674185	0.81001	D	1.8	0.47472	L	-0.98	0.75789	T	-2.3	0.51157	N	0.816	0.81162	-0.6147	0.64209	T	0.296	0.66792	T	10	0.47753888	0.60234	T	0.067717	0.70245	D	0.478	0.76946	.	.	0.933878938986	0.93319	0.8484211082085749	0.84803	0.400063458434	0.41012	0.581681251526	0.50322	T	0.006589	0.06018	T	-0.135109	0.30672	T	-0.125874	0.61317	T	0.132730555446772	0.15632	T	0.788221	0.42759	T	0.35046822	0.57104	0.36516562	0.61870	0.35046822	0.57104	0.36516562	0.61870	-8.524	0.64588	D	.	.	0.468	0.63090	A	.	.	3.533256	0.49582	22.8	0.96532200131780643	0.30154	0.90924	0.52520	D	AEFBI	0.239548	0.36149	N	-0.0207203981886033	0.40920	2.43837	0.0689062853750711	0.42994	2.610545	0.995533614716689	0.34180	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	2.63	0.30420	2.654000	0.46363	3.929000	0.40522	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.6404:0.0:0.3596:0.0	6.957	0.23758	647	0.63344	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1673.98	35	chr7	128338270	.	A	T	1673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.46;ReadPosRankSum=0.211;SOR=0.650	GT:AD:DP:GQ:PL	0/1:88,72:160:99:1688,0,2065	20	0	1	0
chr7	128479325	128479325	T	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.T370C:p.C124R,	.	.	438	1023	61	0	0	61	0.0289511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.070	N	1.000	N	-0.895	N	2.82	T	-0.911	T	0.159	T	0.493	-1.114	0.131	-3.33	-0.521	-0.728	3.406	0.150	0.0174515873499	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs2896399	6.91e-07	0.0003	0	1.392e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	7.762e-05	0.0047	6.85e-05	8.73e-05	0.0002	4.257e-05	3.336e-05	3.499e-05	2.115e-05	0.0001	0	0	0.0003	0	0.0001	0	6.298e-05	0	0.0002	0.543	0.07211	T	0.446	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	0.999999	0.08975	N	0	0.06538	N	-1.5	0.81318	D	-0.09	0.08340	N	0.091	0.06990	-0.9107	0.46768	T	0.159	0.49245	T	10	0.040916353	0.02701	T	0.017452	0.39153	T	0.150	0.39571	.	.	0.281780670237	0.27795	0.3364087587855413	0.33553	1.77259410334	0.91302	0.311764478683	0.12173	T	0.009243	0.08422	T	-0.023595	0.48339	T	-0.271669	0.47650	T	0.0109154101652592	0.00156	T	0.0324967	0.00210	T	0.16811484	0.37249	0.10462155	0.25132	0.16811484	0.37249	0.10462155	0.25131	-3.247	0.14219	T	.	.	0.058	0.01645	B	.;.	.;.	-0.248706	0.02851	0.401	0.19786044545260884	0.00683	0.00784	0.03216	N	AEFDGBI	0.026016	0.01879	N	-1.68615344627752	0.00892	0.03860894	-1.71130139537614	0.01088	0.04887346	0.983306935734051	0.30538	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.65	-3.33	0.04649	-0.038000	0.12096	-0.198000	0.10972	-1.804000	0.00620	0.000000	0.06391	0.000000	0.08366	0.326000	0.25110	0.1971:0.2519:0.0:0.5509	3.406	0.06915	340	0.86005	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3	3229.78	206	chr7	128479325	.	T	C	3229.78	.	AC=9;AF=0.300;AN=30;BaseQRankSum=2.39;DP=4419;ExcessHet=4.7172;FS=44.472;InbreedingCoeff=-0.4018;MLEAC=11;MLEAF=0.367;MQ=57.67;MQRankSum=-1.368e+01;QD=1.57;ReadPosRankSum=-3.614e+00;SOR=5.400	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:248,30:278:99:0|1:128479325_T_C:483,0,10316:128479325	6	0	9	6
chr7	128479326	128479326	G	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.G371C:p.C124S,	.	.	439	1022	61	0	0	61	0.0289786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.0	B	0.070	N	1.000	N	-0.345	N	2.87	T	-0.882	T	0.184	T	0.33	-1.681	0.012	-0.54	0.001	-0.407	1.070	0.035	0.0178834836329	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs1053120	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0047	0.0001	0.0001	0.0002	8.172e-05	6.772e-05	5.008e-05	3.232e-05	0.0001	0	7.124e-05	0.0003	0	0.0004	0	9.519e-05	0	0.0002	0.758	0.03719	T	0.539	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	1	0.08975	N	-1.245	0.00777	N	-1.44	0.80815	T	0.31	0.04022	N	0.028	0.00618	-0.8819	0.49609	T	0.184	0.53346	T	10	0.027546227	0.00899	T	0.017883	0.39748	T	0.035	0.08770	0.413	0.45052	0.143124449307	0.13826	0.18685623340228857	0.18603	1.30509170409	0.83107	0.288228809834	0.08665	T	0.005735	0.05178	T	-0.0687896	0.41519	T	-0.336588	0.40731	T	0.0201303625068684	0.00714	T	0.0364963	0.00253	T	0.06934343	0.15184	0.05611007	0.09968	0.06934343	0.15184	0.05611007	0.09967	-1.643	0.02320	T	.	.	0.063	0.01622	B	.;.	.;.	-0.660452	0.01415	0.083	0.18282609098011249	0.00568	0.00146	0.00887	N	AEFDGBI	0.017860	0.00498	N	-1.54153135271646	0.01584	0.06923818	-1.55325254833429	0.01954	0.08918713	0.918060544389619	0.26560	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.57	-0.54	0.11268	-0.000000	0.12910	-3.007000	0.03146	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.2318:0.3902:0.2301:0.1479	1.070	0.01518	340	0.86005	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3	3281.73	207	chr7	128479326	.	G	C	3281.73	.	AC=9;AF=0.300;AN=30;BaseQRankSum=1.60;DP=4446;ExcessHet=4.7172;FS=44.472;InbreedingCoeff=-0.4190;MLEAC=11;MLEAF=0.367;MQ=57.73;MQRankSum=-1.377e+01;QD=1.60;ReadPosRankSum=-3.844e+00;SOR=5.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:248,30:278:99:0|1:128479325_T_C:483,0,10316:128479325	6	0	9	6
chr7	128881062	128881062	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon32:c.C3448T:p.R1150W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs560295052	5.272e-05	2.385e-05	6.578e-05	4.002e-05	7.583e-05	3.038e-05	2.463e-05	4.336e-05	3.386e-05	0	0	0	0	0	0	7.583e-05	6.103e-05	0	1.313e-05	1.312e-05	0	2.685e-05	6.539e-05	2.18e-06	8.2e-07	.	.	0	0	6.539e-05	0	0	0	0.0034	0	0	0	.	.	.	0.054	0.47097	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.38438	.	.	.	.	.	.	.	0.16997132	0.31634	T	.	.	.	.	.	.	.	0.266385636622	0.26244	0.437468128662114	0.43663	.	.	.	.	.	0.119057	0.44032	T	-0.0297408	0.47455	T	-0.280497	0.46752	T	.	.	.	0.666633	0.27564	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.15475	B	.	.	3.344486	0.46102	22.2	0.82505467356518214	0.14227	0.25415	0.22691	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.892468918897225	0.25884	0.162113	0.03585	0	0.18701	0.04157	0	0.072005	0.02045	0	0.062806	0.01542	0	0.179535	0.29428	5.08	2.17	0.26736	0.226000	0.17557	0.211000	0.15962	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.730000	0.35099	0.0821:0.0:0.6099:0.3079	7.301	0.25591	565	0.70868	VWFC domain|VWFC domain|VWFC domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	789.98	34	chr7	128881062	.	G	A	789.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.000e-03;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.29;ReadPosRankSum=-1.516e+00;SOR=0.610	GT:AD:DP:GQ:PL	0/1:48,37:85:99:804,0,1130	20	0	1	0
chr7	131556276	131556276	-	GGCGAC	exonic	PODXL	.	nonframeshift insertion	PODXL:NM_001018111:exon1:c.83_84insGTCGCC:p.S31_Q32insPS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	24221.88	24	chr7	131556270	.	GGGCGAC	G,GGGCGACGGCGAC	24221.88	.	AC=15,13;AF=0.357,0.310;AN=42;BaseQRankSum=0.430;DP=932;ExcessHet=0.0019;FS=0.000;InbreedingCoeff=0.5714;MLEAC=15,13;MLEAF=0.357,0.310;MQ=60.00;MQRankSum=0.00;QD=33.09;ReadPosRankSum=0.348;SOR=0.686	GT:AD:DP:GQ:PL	1/1:0,35,0:35:99:1576,106,0,1576,106,1576	5	3	3	0
chr7	134191701	134191701	G	A	exonic	LRGUK	.	nonsynonymous SNV	LRGUK:NM_001365700:exon12:c.G1381A:p.V461I	.	.	430	1086	6	0	0	6	0.00275482	.	.	2329796	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.854	P	0.609	P	0.000	D	0.842	N	1.485	L	0.99	T	-0.895	T	0.129	T	0.143	3.156	16.55	5.68	2.672	0.868	9.474	0.086	0.00805887798446	.	.	0.0002	0	0.0002	0	0	0.0002	0	0.0001	0.0001552	24	154602	rs759692358	0.0002	0.0002	0.0002	0.0002	0.0047	0.0002	0.0002	0.0033	0.0028	0.0008	0.0002	0	0	0	0.0047	0.0002	0.0005	9.298e-05	9.194e-05	9.186e-05	8.994e-05	9.403e-05	0.0004	5.525e-05	4.362e-05	7.301e-05	3.033e-05	4.814e-05	0	0	0.0003	0	0.0002	0.0034	7.35e-05	0.0005	0.0004	0.154	0.24277	T	0.105	0.38016	T	0.854	0.47077	P	0.609	0.51053	P	0.000436	0.44522	D	0.090275	0.842248	0.28614	N	1.96	0.53105	M	0.99	0.41750	T	-0.37	0.13226	N	0.153	0.15749	-0.8955	0.48437	T	0.129	0.43686	T	10	0.1643143	0.30744	T	0.008059	0.21368	T	0.086	0.25016	.	.	0.680795644034	0.67808	0.3031122014587767	0.30224	0.245867236024	0.27115	0.417370408773	0.27476	T	9.52E-4	0.00501	T	-0.415294	0.01834	T	-0.554883	0.16859	T	0.107243038713932	0.13135	T	0.840116	0.51562	T	0.09378874	0.22037	0.076832294	0.17056	0.09378874	0.22037	0.076832294	0.17055	-6.457	0.49953	T	.	.	0.171	0.37501	B	.;.	.;.	3.733241	0.53412	23.4	0.99763187213411308	0.85254	0.73113	0.35768	D	AEFGI	0.095559	0.19304	N	0.404904973453133	0.61691	4.373713	0.454896591312234	0.65030	4.772671	0.998907429495253	0.37938	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.68	5.68	0.88021	0.633000	0.24289	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.1321:0.6114:0.2565	9.474	0.38025	875	0.30485	Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1841.98	36	chr7	134191701	.	G	A	1841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.495;DP=865;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=1.14;SOR=0.669	GT:AD:DP:GQ:PL	0/1:81,80:161:99:1856,0,1841	20	0	1	0
chr7	135927309	135927309	G	C	exonic	LUZP6	.	nonsynonymous SNV	LUZP6:NM_001128619:exon4:c.C142G:p.P48A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.00539137	0.0023	0.0196	0	0	0	0	0	0.0001	0.0005627	87	154602	rs78834486	0.0006	0.0005	0.0006	0.0005	0.0211	0.0005	0.0005	0.0198	0.0193	0.0211	0.0009	0	0	0	0.0014	5.563e-06	0.0013	7.612e-05	0.0055	0.0055	0.0060	0.0051	0.0196	0.0052	0.0051	0.0185	0.0181	0.0196	0	0.0011	0	0	0	0.0034	2.94e-05	0.0038	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999794	0.20333	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038113296	0.00072	T	.	.	.	.	.	.	.	0.104622674875	0.10061	0.001480441288943487	0.00137	.	.	.	.	.	.	.	.	-0.580524	0.00191	T	-0.591064	0.13573	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15921	B	.	.	0.089284	0.04932	1.507	0.556956882490938	0.05396	0.06076	0.12049	N	AEFBCI	0.074878	0.15022	N	.	.	.	.	.	.	0.152158313057458	0.17458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.65	-2.54	0.05941	-0.165000	0.09957	3.934000	0.40555	-0.684000	0.04190	0.000000	0.06391	0.957000	0.29195	0.209000	0.22154	0.2701:0.2734:0.3169:0.1396	1.093	0.01563	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	831.98	37	chr7	135927309	.	G	C	831.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=836;ExcessHet=0.0000;FS=1.047;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=-1.969e+00;SOR=0.454	GT:AD:DP:GQ:PL	0/1:41,33:74:99:846,0,998	20	0	1	0
chr7	139953397	139953397	C	A	exonic	TBXAS1	.	nonsynonymous SNV	TBXAS1:NM_001366537:exon5:c.C297A:p.D99E	Ghosal hematodiaphyseal syndrome, Autosomal recessive	.	1	1470	48	2	1	53	0.0173797	.	.	710823	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001682	26	154602	rs5768	0.0068	0.0068	0.0067	0.0069	0.0140	0.0067	0.0066	0.0116	0.0107	0.0009	0.0058	0.0243	0	0.0020	0.0140	0.0071	0.0078	0.0053	0.0048	0.0048	0.0047	0.0048	0.0065	0.0045	0.0044	0.0060	0.0058	0.0011	0.0022	0.0052	0.0265	0.0006	0.0020	0.0136	0.0065	0.0099	0.0035	.	.	.	0.185	0.28958	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.15046	.	.	.	.	.	.	.	0.0074077547	0.00168	T	.	.	.	.	.	.	.	.	.	0.18858199189916144	0.18776	.	.	.	.	.	0.028943	0.20850	T	.	.	.	.	.	.	.	.	.	0.424958	0.12501	T	.	.	.	.	.	.	.	.	-3.967	0.23308	T	.	.	0.193	0.44694	B	.;.;.;.;.;.	.;.;.;.;.;.	1.396628	0.18099	13.55	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.341000	0.07858	0.189000	0.15722	0.596000	0.33519	0.003000	0.16062	0.004000	0.18990	0.997000	0.79791	.	.	.	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	4514.68	34	chr7	139953397	.	C	A	4514.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.480e-01;DP=991;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-9.940e-01;SOR=0.707	GT:AD:DP:GQ:PL	0/1:69,74:143:99:1787,0,1698	18	0	3	0
chr7	141708814	141708814	G	C	exonic	WEE2	.	nonsynonymous SNV	WEE2:NM_001105558:exon1:c.G56C:p.C19S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.01	B	0.005	B	0.001	U	0.970	N	0.86	L	2.08	T	-1.027	T	0.034	T	0.114	0.591	7.190	3.83	1.605	1.491	13.830	0.066	0.00278330625356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.394	0.10694	T	0.597	0.08025	T	0.01	0.15535	B	0.005	0.11217	B	0.000909	0.41128	U	0.095708	0.970112	0.25720	N	0.625	0.15840	N	2.08	0.20255	T	-2.83	0.59710	D	0.163	0.17140	-1.0267	0.21527	T	0.034	0.14509	T	10	0.08005151	0.12950	T	0.002783	0.05781	T	0.066	0.19193	0.181	0.08877	0.144782658237	0.14088	0.05068068433117652	0.05010	0.177712438129	0.19995	0.284123629332	0.08074	T	0.22398	0.58828	T	-0.295	0.09140	T	-0.661523	0.08163	T	0.370780169963837	0.27827	T	.	.	.	0.16153122	0.36169	0.20125964	0.44098	0.16153122	0.36168	0.20125964	0.44097	-1.446	0.01657	T	.	.	0.075	0.05491	B	.	.	1.627351	0.20777	14.91	0.52640498130325097	0.04786	0.78778	0.38919	D	AEFBI	0.307101	0.41407	N	-0.866942784596218	0.11636	0.5625868	-0.784626071155834	0.14871	0.7793318	0.998467410148152	0.37014	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.72	3.83	0.43287	1.691000	0.37340	.	.	-0.158000	0.11653	0.792000	0.29619	0.028000	0.21151	0.415000	0.27117	0.0:0.0:0.8466:0.1534	13.830	0.62867	859	0.33891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	893.98	35	chr7	141708814	.	G	C	893.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.330;DP=775;ExcessHet=0.0000;FS=0.872;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=1.97;SOR=0.811	GT:AD:DP:GQ:PL	0/1:37,35:72:99:908,0,995	20	0	1	0
chr7	141919131	141919131	C	A	exonic	OR9A4	.	nonsynonymous SNV	OR9A4:NM_001001656:exon2:c.C256A:p.L86I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.064	B	0.011	B	.	.	1.000	N	0.67	N	5.76	T	-0.896	T	0.001	T	0.123	0.058	4.318	2.83	2.121	0.078	10.446	0.074	.	0.0089	0.0105831	0.0029	0.0314	0.0021	0	0	4.496e-05	0.0011	0	0.0027555	426	154602	rs145481939	0.0007	0.0007	0.0008	0.0006	0.0229	0.0007	0.0007	0.0216	0.0211	0.0229	0.0022	0	0	0	0.0012	2.338e-05	0.0020	8.115e-05	0.0077	0.0078	0.0081	0.0073	0.0263	0.0074	0.0072	0.0250	0.0245	0.0263	0	0.0048	0	0	0	0	4.41e-05	0.0052	0	0.022	0.48642	D	0.451	0.12920	T	0.064	0.23455	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	5.76	0.00695	T	-0.35	0.12847	N	0.278	0.31478	-0.8959	0.48399	T	0.001	0.00318	T	9	0.0030588508	0.00050	T	.	.	.	0.074	0.21613	.	.	0.278143212241	0.27437	0.03562909514415973	0.03509	0.0707918277514	0.07938	0.278338134289	0.07262	T	0.007799	0.07183	T	-0.648685	0.00074	T	-0.683618	0.06765	T	0.00745726439580505	0.00086	T	0.455254	0.13018	T	0.058543637	0.11789	0.20664166	0.44887	0.058543637	0.11788	0.20664166	0.44886	-3.778	0.20476	T	.	.	0.103	0.18539	B	.;.	.;.	0.864501	0.12371	8.908	0.93604499818686016	0.23464	0.01880	0.05784	N	AEFI	0.050237	0.08761	N	-0.567536567134491	0.19936	1.047315	-0.516445151701444	0.21707	1.175526	4.19586670873106E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.8	2.83	0.32150	0.409000	0.20803	.	.	-0.176000	0.10722	0.009000	0.18154	0.000000	0.08366	0.046000	0.14843	0.1947:0.8053:0.0:0.0	10.446	0.43679	876	0.30350	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2200.98	38	chr7	141919131	.	C	A	2200.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.349e+00;DP=868;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-6.600e-02;SOR=0.675	GT:AD:DP:GQ:PL	0/1:86,81:167:99:2215,0,2340	20	0	1	0
chr7	142772109	142772109	C	A	exonic	PRSS2	.	nonsynonymous SNV	PRSS2:NM_001303414:exon2:c.C101A:p.S34Y	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs147670699	3.564e-05	0.0008	3.956e-05	3.168e-05	0.0015	2.768e-05	2.506e-05	0.0012	0.0010	0.0015	2.242e-05	0	0	0	0.0002	0	4.989e-05	0	0.0022	0.0085	0.0023	0.0021	0.0079	0.0020	0.0019	0.0071	0.0069	0.0079	0	0.0007	0	0	0	0	4.41e-05	0.0014	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.723	0.72477	.	.	.	.	.	.	.	0.3983361	0.55388	T	.	.	.	.	.	.	.	.	.	0.590425253124696	0.58972	.	.	.	.	.	0.085064	0.87408	T	.	.	.	.	.	.	.	.	.	0.966303	0.87634	D	.	.	.	.	.	.	.	.	-12.121	0.85436	D	.	.	0.598	0.69873	P	.;.;.;.	.;.;.;.	4.269802	0.64956	24.8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.843000	0.62537	.	.	0.599000	0.40250	0.919000	0.31930	0.020000	0.20764	0.074000	0.16894	.	.	.	782	0.47442	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	960.98	200	chr7	142772109	.	C	A	960.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.120e+00;DP=4158;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.65;MQRankSum=-8.609e+00;QD=2.08;ReadPosRankSum=-1.084e+00;SOR=0.731	GT:AD:DP:GQ:PL	0/1:371,92:463:99:975,0,13582	20	0	1	0
chr7	142864297	142864299	CCT	-	exonic	EPHB6	.	nonframeshift deletion	EPHB6:NM_004445:exon7:c.497_499del:p.S177del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	.	0.0030	0.0009	0.0027	0.0001	0.0030	0.0040	0.0023	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	1/3:1,32,0,40:73:99:2902,1593,1695,2927,1721,3042,1291,0,1343,1215	0	16	2	0
chr7	142864299	142864299	-	CCT	exonic	EPHB6	.	nonframeshift insertion	EPHB6:NM_004445:exon7:c.499_500insCCT:p.S177_A178insS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	1/3:1,32,0,40:73:99:2902,1593,1695,2927,1721,3042,1291,0,1343,1215	0	16	2	0
chr7	142864336	142864336	C	T	exonic	EPHB6	.	nonsynonymous SNV	EPHB6:NM_004445:exon7:c.C536T:p.A179V,	.	.	347	1173	2	0	0	2	0.000851789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.729	P	0.086	B	0.384	N	1.000	N	0	N	-0.48	T	-1.004	T	0.085	T	0.115	0.888	8.605	2.42	1.110	1.693	5.665	0.074	0.0143750070457	0.0014	0.000998403	0.0004	0.0043	0.0003	0	0	3.138e-05	0	0	0.0003493	54	154602	rs141491735	0.0001	0.0001	0.0001	0.0001	0.0047	0.0001	0.0001	0.0041	0.0039	0.0047	0.0005	0	0	0	0	1.079e-05	0.0003	1.159e-05	0.0013	0.0013	0.0014	0.0012	0.0044	0.0011	0.0011	0.0039	0.0037	0.0044	0	0.0004	0	0	0	0	2.94e-05	0.0019	0	.	.	.	0.013	0.63109	D	.	.	.	.	.	.	0.383701	0.13354	N	0.654429	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.121	0.11197	-1.0041	0.28725	T	0.085	0.33071	T	10	0.0054031312	0.00119	T	0.014375	0.34458	T	.	.	.	.	0.409937222855	0.40610	0.42284099029932526	0.42201	.	.	0.660159051418	0.61432	T	0.005679	0.05129	T	-0.555644	0.00270	T	-0.569554	0.15490	T	0.0113353185963112	0.00168	T	0.285571	0.05082	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.17911	B	.;.	.;.	2.229371	0.28461	17.80	0.99492814912857463	0.67573	0.28881	0.23673	N	AEFDBI	0.106327	0.21218	N	-0.62887834719407	0.18080	0.9358324	-0.684263666521829	0.17354	0.9223896	0.981919718787009	0.30327	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	4.25	2.42	0.28720	0.664000	0.24749	.	.	0.599000	0.40250	0.000000	0.06391	0.005000	0.19230	0.139000	0.19909	0.0:0.7603:0.0:0.2397	5.665	0.16965	720	0.55521	Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain;Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1422.98	39	chr7	142864336	.	C	T	1422.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.800e-02;DP=938;ExcessHet=0.0000;FS=0.728;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=0.199;SOR=0.596	GT:AD:DP:GQ:PL	0/1:50,56:106:99:1437,0,1216	20	0	1	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.08	B	0.074	B	0.948	N	1.000	N	1.69	L	5.65	T	-0.976	T	0.003	T	0.072	-0.179	3.127	-8.61	-1.743	-1.632	6.528	0.028	0.00241750934598	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373019967	6.544e-06	0.0009	4.362e-06	8.725e-06	7.733e-06	3.08e-06	2.23e-06	3.33e-06	2.4e-06	0	0	0	0	1.901e-05	0	7.733e-06	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.412	0.14456	T	0.08	0.24543	B	0.074	0.28220	B	0.947612	0.07634	N	1.033800	1	0.08975	N	1.015	0.25427	L	5.65	0.00784	T	-0.47	0.15178	N	0.052	0.02366	-0.9758	0.35948	T	0.003	0.01092	T	10	0.07525703	0.11609	T	0.002418	0.04757	T	0.028	0.06331	0.652	0.78963	0.101711395817	0.09552	0.04758141662796776	0.04701	0.0497017490909	0.05451	0.254782557487	0.04288	T	0.002724	0.02115	T	-0.393424	0.02556	T	-0.802903	0.01831	T	0.103939465538467	0.12785	T	.	.	.	0.047795918	0.08228	0.037618708	0.03453	0.047795918	0.08227	0.037618708	0.03453	-3.217	0.12689	T	.	.	0.092	0.13503	B	.	.	-1.055815	0.00695	0.020	0.53951675314367431	0.05040	0.01208	0.04299	N	AEFBI	0.032596	0.03711	N	-1.54910637092624	0.01540	0.06726581	-1.68964110834314	0.01184	0.05327442	0.999999965671774	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.7	-8.61	0.00769	-1.143000	0.03311	-0.836000	0.07236	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.279:0.1065:0.5102:0.1042	6.528	0.21510	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4286	4409.3	115	chr7	143478290	.	A	G	4409.3	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.767e+00;DP=2442;ExcessHet=30.0624;FS=186.672;InbreedingCoeff=-0.7419;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=1.01;SOR=12.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:96,30:126:99:.:.:108,0,2266	3	0	18	0
chr7	151187668	151187668	G	A	exonic	ASB10	.	nonsynonymous SNV	ASB10:NM_080871:exon1:c.C55T:p.P19S,	Glaucoma 1, open angle, F	.	381	1138	3	0	0	3	0.00131637	.	.	105849	not_provided|Glaucoma_1,_open_angle,_F	MedGen:C3661900|MedGen:C1863926,OMIM:603383	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.26	T	0.005	B	0.004	B	0.302	N	1.000	N	.	.	-0.18	T	-1.010	T	0.145	T	0.182	2.525	14.40	1.82	0.393	1.375	5.912	0.033	0.0273516071072	.	0.000599042	0.0010	0	0.0030	0	0	0.0014	0	0.0006	0.0002393	37	154602	rs104886462	0.0009	0.0009	0.0009	0.0009	0.0018	0.0009	0.0009	0.0010	0.0010	9.689e-05	0.0014	0	0	0.0017	0.0018	0.0010	0.0009	8.139e-05	0.0007	0.0007	0.0007	0.0006	0.0011	0.0006	0.0005	0.0008	0.0007	0.0001	0	0.0011	0	0	0.0013	0	0.0010	0.0005	0	0.105	0.29823	T	0.27	0.22359	T	0.005	0.12996	B	0.004	0.10090	B	0.301683	0.03958	N	1.444430	1	0.08975	N	.	.	.	-0.18	0.65747	T	-1.05	0.27463	N	0.184	0.19995	-1.0099	0.26949	T	0.145	0.46841	T	9	0.0068014264	0.00154	T	0.027352	0.50169	D	0.033	0.08068	.	.	0.181679512989	0.17746	.	.	.	.	.	.	.	.	.	.	-0.454548	0.01061	T	-0.466236	0.25921	T	0.00741413052126573	0.00085	T	0.510449	0.16283	T	.	.	.	.	.	.	.	.	-3.65	0.18582	T	.	.	0.092	0.13737	B	.	.	0.969666	0.13466	9.976	0.99599535577903064	0.74101	0.06696	0.12716	N	AEFDBI	0.081675	0.16529	N	-0.800561013381361	0.13297	0.6539897	-0.847404612047775	0.13349	0.6920643	0.992498677403257	0.32860	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.63	1.82	0.24209	0.953000	0.28759	0.748000	0.21214	0.676000	0.76740	0.001000	0.13787	0.009000	0.19889	0.033000	0.13494	0.329:0.0:0.671:0.0	5.912	0.18273	906	0.23090	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2203.11	36	chr7	151187668	.	G	A	2203.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.55;DP=846;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=-7.660e-01;SOR=0.690	GT:AD:DP:GQ:PL	0/1:47,51:98:99:1287,0,1140	19	0	2	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H,	.	YES	526	320	669	7	0	683	0.516251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.002	U	1.000	D	2.11	M	-2.28	D	0.656	D	0.754	D	0.82	3.081	16.29	4.67	1.866	9.283	14.405	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4048	21206.9	371	chr7	152229940	.	A	G	21206.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-6.890e-01;DP=6803;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=44.68;MQRankSum=0.452;QD=3.93;ReadPosRankSum=0.208;SOR=0.720	GT:AD:DP:GQ:PL	0/1:321,95:416:99:1229,0,10756	4	0	17	0
chr8	2079577	2079577	G	A	exonic	MYOM2	.	nonsynonymous SNV	MYOM2:NM_003970:exon13:c.G1480A:p.E494K,	.	.	421	1100	1	0	0	1	0.000454339	.	.	2346197	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.9	T	0.0	B	0.001	B	0.110	N	1.000	D	1.1	L	0.74	T	-1.072	T	0.083	T	0.204	-0.094	3.541	3.43	1.193	3.605	11.083	0.111	0.0103279850911	0.0002	0.000199681	0.0001	0.0012	0.0002	0	0	1.498e-05	0	0	0.0001035	16	154602	rs138854390	5.678e-05	5.746e-05	6.262e-05	5.088e-05	0.0016	4.676e-05	4.301e-05	0.0013	0.0012	0.0016	0.0001	0	0	0	0.0005	2.698e-06	0.0003	1.159e-05	0.0004	0.0004	0.0003	0.0005	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	0.0002	0	0	0	0	1.47e-05	0	0	0.898	0.02436	T	0.919	0.02882	T	.	.	.	.	.	.	0.110140	0.19455	N	0.527351	1	0.81001	D	.	.	.	0.74	0.50459	T	-0.05	0.07736	N	0.227	0.25499	-1.0718	0.09022	T	0.083	0.32499	T	10	0.026997864	0.00854	T	0.010328	0.26741	T	0.111	0.31313	.	.	0.599859248137	0.59666	0.27939611149503224	0.27852	0.00840729258209	0.00763	0.344211697578	0.17066	T	.	.	.	-0.485207	0.00690	T	-0.526091	0.19678	T	0.0136030649047928	0.00252	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.34071	B	.	.	2.043034	0.25971	16.95	0.73848754645259795	0.10477	0.84493	0.43575	D	AEFDBHCIJ	0.275645	0.39056	N	-0.473732770974848	0.22944	1.228653	-0.340488080046915	0.26804	1.482991	0.999999396458713	0.74766	0.59774	0.34471	0	0.615948	0.52940	0	0.596394	0.31383	0	0.63947	0.58350	0	.	.	5.26	3.43	0.38372	3.918000	0.56144	6.462000	0.55696	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.348000	0.25613	0.0707:0.1278:0.8015:0.0	11.083	0.47291	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1713.98	42	chr8	2079577	.	G	A	1713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=928;ExcessHet=0.0000;FS=0.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.50;ReadPosRankSum=2.62;SOR=0.776	GT:AD:DP:GQ:PL	0/1:62,65:127:99:1728,0,1432	20	0	1	0
chr8	7358105	7358105	A	C	exonic	ZNF705G	.	nonsynonymous SNV	ZNF705G:NM_001164457:exon7:c.T774G:p.C258W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	0.954	D	4.09	H	-1.96	D	0.311	D	0.707	D	0.371	1.334	10.38	0.109	0.156	0.533	4.622	0.255	.	0.0027	0.00419329	0.0010	0.0124	0.0003	0	0	1.505e-05	0	0	0.0009444	146	154602	rs376848739	0.0003	0.0003	0.0003	0.0002	0.0104	0.0002	0.0002	0.0094	0.0091	0.0104	0.0003	0	0	0	0	1.349e-05	0.0004	0	0.0027	0.0029	0.0028	0.0027	0.0099	0.0025	0.0024	0.0091	0.0087	0.0099	0	0.0010	0	0	0	0	7.351e-05	0.0024	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.953727	0.37843	D	4.09	0.97262	H	-1.96	0.85091	D	-10.96	0.99277	D	0.515	0.54584	0.311	0.87728	D	0.707	0.89940	D	7	0.008441597	0.00191	T	.	.	.	0.255	0.56562	.	.	0.585048770503	0.58177	0.02863517232921046	0.02813	9.33143989468E-4	0.00079	0.719897687435	0.70032	T	0.512481	0.82792	D	-0.156402	0.27314	T	-0.146281	0.59572	T	0.22321594286728	0.21623	T	0.730627	0.34608	T	0.74198407	0.80406	0.50251794	0.71242	0.74198407	0.80407	0.50251794	0.71242	-7.909	0.60448	D	.	.	0.256	0.49028	B	.	.	2.414466	0.31037	18.62	0.9795870369615215	0.37158	0.06128	0.12106	N	AEFBI	0.161526	0.28760	N	-0.378156903511655	0.26248	1.431132	-0.704324012921205	0.16852	0.89347	1.18163684097032E-6	0.01202	0.487112	0.14033	0	0.315538	0.05683	2	0.573888	0.23631	0	0.530356	0.10902	0	.	.	0.109	0.109	0.13884	0.067000	0.14378	-4.725000	0.02015	0.272000	0.18543	0.009000	0.18154	0.000000	0.08366	0.413000	0.27073	0.9996:0.0:4.0E-4:0.0	4.622	0.11842	994	0.00715	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3091.06	298	chr8	7358105	.	A	C	3091.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=2833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.024;MQ=53.56;MQRankSum=2.27;QD=5.55;ReadPosRankSum=-1.035e+00;SOR=0.630	GT:AD:DP:GQ:PL	0/1:409,148:557:99:3105,0,11037	20	0	1	0
chr8	8319057	8319057	G	T	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon6:c.C3318A:p.D1106E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.003	B	0.011	B	0.001	D	0.789	N	-0.26	N	0.73	T	-1.018	T	0.051	T	0.077	0.153	4.824	2.68	0.105	0.067	9.313	0.034	0.00916788272373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.000592	0.43095	D	0.261649	0.789327	0.29244	N	.	.	.	.	.	.	.	.	.	0.09	0.08646	-1.0176	0.24495	T	0.051	0.21728	T	10	0.052407295	0.05270	T	0.009168	0.24107	T	.	.	.	.	0.0551355673512	0.04727	0.18115524547103037	0.18034	.	.	0.368953049183	0.20682	T	0.004081	0.03492	T	-0.278249	0.10853	T	-0.637462	0.09855	T	0.74344265460968	0.42924	D	0.747625	0.36808	T	0.045910053	0.07594	0.08383119	0.19242	0.045910053	0.07594	0.08383119	0.19242	-3.857	0.21659	T	.	.	0.183	0.39765	B	.;.	.;.	1.678510	0.21391	15.18	0.9052923840501127	0.19786	0.75446	0.36940	D	AEFDBHCI	0.192465	0.31962	N	-1.18641720662332	0.05205	0.2367213	-0.991394913256058	0.09978	0.4996744	0.999999943494196	0.74766	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.635551	0.53088	0	.	.	5.48	2.68	0.30839	0.088000	0.14821	1.872000	0.29394	-0.163000	0.11536	0.981000	0.35396	1.000000	0.68203	0.738000	0.35369	0.1322:0.2226:0.6452:0.0	9.313	0.37077	930	0.16408	Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2083.98	94	chr8	8319057	.	G	T	2083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.610e-01;DP=1618;ExcessHet=0.0000;FS=1.217;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.073;SOR=0.567	GT:AD:DP:GQ:PL	0/1:85,81:166:99:2098,0,2232	20	0	1	0
chr8	8377353	8377364	GCCGCTGCCGCT	-	exonic	PRAG1	.	nonframeshift deletion	PRAG1:NM_001080826:exon3:c.1045_1056del:p.S349_L1405delinsASSPFVPHLESDYCSLMKEPAPEKQQDPGCPGVTPSRCLGLTGEPQPPAHPREATQPEPIYAESTKRKKAAPVPSKSQAKIEHAAAAQGQGQVCTGNAWAQKAASGWGRDSPDPTPQVSATITVMAAHPEEDHRTIYLSSPDSAVGVQWPRGPVSQNSEVGEEETSAGQGLSSRESHAHSASESKPKERPAIPPKLSKSSPVGSPVSPSAGGPPVSPLADLSDGSSGGSSIGPQPPSQGPADPAPSCRTNGVAISDPSRCPQPAASSASEQRRPRFQAGTWSRQCRIEEEEEVEQELLSHSWGRETKNGPTDHSNSTTWHRLHPTDGSSGQNSKVGTGMSKSASFAFEFPKDRSGIETFSPPPPPPKSRHLLKMNKSSSDLEKVSQGSAESLSPSFRGVHVSFTTGSTDSLASDSRTCSDGGPSSELAHSPTNSGKKLFAPVPFPSGSTEDVSPSGPQQPPPLPQKKIVSRAASSPDGFFWTQGSPKPGTASPKLNLSHSETNVHDESHFSYSLSPGNRHHPVFSSSDPLEKAFKGSGHWLPAAGLAGNRGGCGSPGLQCKGAPSASSSQLSVSSQASTGSTQLQLHGLLSNISSKEGTYAKLGGLYTQSLARLVAKCEDLFMGGQKKELHFNENNWSLFKLTCNKPCCDSGDAIYYCATCSEDPGSTYAVKICKAPEPKTVSYCSPSVPVHFNIQQDCGHFVASVPSSMLSSPDAPKDPVPALPTHPPAQEQDCVVVITREVPHQTASDFVRDSAASHQAEPEAYERRVCFLLLQLCNGLEHLKEHGIIHRDLCLENLLLVHCTLQAGPGPAPAPAPAPAPAAAAPPCSSAAPPAGGTLSPAAGPASPEGPREKQLPRLIISNFLKAKQKPGGTPNLQQKKSQARLAPEIVSASQYRKFDEFQTGILIYELLHQPNPFEVRAQLRERDYRQEDLPPLPALSLYSPGLQQLAHLLLEADPIKRIRIGEAKRVLQCLLWGPRRELVQQPGTSEEALCGTLHNWIDMKRALMMMKFAEKAVDRRRGVELEDWLCCQYLASAEPGALLQSLKLLQLL*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1275152506	0.0002	0.0002	0.0003	0.0002	0.0066	0.0002	0.0002	0.0058	0.0056	0.0066	0.0003	0	7.61e-05	0	0	3.646e-05	0.0005	0.0001	0.0017	0.0017	0.0017	0.0017	0.0059	0.0015	0.0015	0.0053	0.0050	0.0059	0	0.0004	0	0	9.557e-05	0	7.393e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27670.54	87	chr8	8377352	.	CGCCGCTGCCGCT	C,CGCCGCT	27670.54	.	AC=1,15;AF=0.024,0.357;AN=42;BaseQRankSum=0.016;DP=1905;ExcessHet=4.5793;FS=0.000;InbreedingCoeff=-0.2115;MLEAC=1,15;MLEAF=0.024,0.357;MQ=60.00;MQRankSum=0.00;QD=22.31;ReadPosRankSum=0.294;SOR=0.704	GT:AD:DP:GQ:PL	2/2:0,0,103:103:99:4587,4587,4587,312,312,0	7	0	1	0
chr8	8377359	8377364	GCCGCT	-	exonic	PRAG1	.	nonframeshift deletion	PRAG1:NM_001080826:exon3:c.1045_1050del:p.S351_L1405delinsASSPFVPHLESDYCSLMKEPAPEKQQDPGCPGVTPSRCLGLTGEPQPPAHPREATQPEPIYAESTKRKKAAPVPSKSQAKIEHAAAAQGQGQVCTGNAWAQKAASGWGRDSPDPTPQVSATITVMAAHPEEDHRTIYLSSPDSAVGVQWPRGPVSQNSEVGEEETSAGQGLSSRESHAHSASESKPKERPAIPPKLSKSSPVGSPVSPSAGGPPVSPLADLSDGSSGGSSIGPQPPSQGPADPAPSCRTNGVAISDPSRCPQPAASSASEQRRPRFQAGTWSRQCRIEEEEEVEQELLSHSWGRETKNGPTDHSNSTTWHRLHPTDGSSGQNSKVGTGMSKSASFAFEFPKDRSGIETFSPPPPPPKSRHLLKMNKSSSDLEKVSQGSAESLSPSFRGVHVSFTTGSTDSLASDSRTCSDGGPSSELAHSPTNSGKKLFAPVPFPSGSTEDVSPSGPQQPPPLPQKKIVSRAASSPDGFFWTQGSPKPGTASPKLNLSHSETNVHDESHFSYSLSPGNRHHPVFSSSDPLEKAFKGSGHWLPAAGLAGNRGGCGSPGLQCKGAPSASSSQLSVSSQASTGSTQLQLHGLLSNISSKEGTYAKLGGLYTQSLARLVAKCEDLFMGGQKKELHFNENNWSLFKLTCNKPCCDSGDAIYYCATCSEDPGSTYAVKICKAPEPKTVSYCSPSVPVHFNIQQDCGHFVASVPSSMLSSPDAPKDPVPALPTHPPAQEQDCVVVITREVPHQTASDFVRDSAASHQAEPEAYERRVCFLLLQLCNGLEHLKEHGIIHRDLCLENLLLVHCTLQAGPGPAPAPAPAPAPAAAAPPCSSAAPPAGGTLSPAAGPASPEGPREKQLPRLIISNFLKAKQKPGGTPNLQQKKSQARLAPEIVSASQYRKFDEFQTGILIYELLHQPNPFEVRAQLRERDYRQEDLPPLPALSLYSPGLQQLAHLLLEADPIKRIRIGEAKRVLQCLLWGPRRELVQQPGTSEEALCGTLHNWIDMKRALMMMKFAEKAVDRRRGVELEDWLCCQYLASAEPGALLQSLKLLQLL*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0072	0.0009	0.0003	0.0003	5.986e-05	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27670.54	87	chr8	8377352	.	CGCCGCTGCCGCT	C,CGCCGCT	27670.54	.	AC=1,15;AF=0.024,0.357;AN=42;BaseQRankSum=0.016;DP=1905;ExcessHet=4.5793;FS=0.000;InbreedingCoeff=-0.2115;MLEAC=1,15;MLEAF=0.024,0.357;MQ=60.00;MQRankSum=0.00;QD=22.31;ReadPosRankSum=0.294;SOR=0.704	GT:AD:DP:GQ:PL	2/2:0,0,103:103:99:4587,4587,4587,312,312,0	7	0	1	0
chr8	10609233	10609233	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4865A:p.R1622Q,	Occult macular dystrophy, Autosomal dominant	.	0	1515	7	0	0	7	0.00230491	.	.	312221	Occult_macular_dystrophy|not_specified|not_provided	Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.25	T	0.032	B	0.001	B	.	.	1.000	N	-0.46	N	3.88	T	-0.916	T	0.004	T	0.024	0.138	4.740	-2.94	-0.734	0.468	6.582	0.049	0.00569248745952	0.0073	0.00399361	0.0036	0.0079	0.0022	0	0.0036	0.0043	0.0024	0.0014	0.0036934	571	154602	rs151260617	0.0065	0.0065	0.0067	0.0062	0.0075	0.0064	0.0063	0.0074	0.0074	0.0073	0.0023	3.828e-05	0.0001	0.0027	0.0009	0.0075	0.0064	0.0018	0.0060	0.0060	0.0065	0.0055	0.0080	0.0057	0.0056	0.0073	0.0070	0.0080	0	0.0029	0	0	0.0024	0	0.0073	0.0052	0.0014	0.718	0.03949	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.88	0.03570	T	0.61	0.02480	N	0.063	0.03502	-0.9158	0.46116	T	0.004	0.01125	T	9	0.0054154694	0.00119	T	0.005692	0.14742	T	0.049	0.13647	.	.	0.0297737177859	0.01360	0.018656061060546472	0.01819	.	.	0.229649305344	0.01942	T	0.091427	0.38793	T	-0.788247	0.00009	T	-0.899066	0.00509	T	0.00068266095198661	0.00006	T	0.523848	0.17156	T	0.024221474	0.01232	0.030853312	0.01594	0.024221474	0.01232	0.030853312	0.01594	-3.597	0.17813	T	.	.	0.095	0.14797	B	.	.	0.336158	0.07097	3.673	0.24328776932467649	0.01070	0.00360	0.01845	N	AEFDBI	0.026000	0.01877	N	-1.25311265889627	0.04258	0.191855	-1.27555137642762	0.04763	0.2254492	2.18804902596741E-4	0.05997	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.38	-2.94	0.05245	0.076000	0.14570	-1.000000	0.06649	0.549000	0.26987	0.092000	0.22623	0.000000	0.08366	0.006000	0.07323	0.0:0.2025:0.5185:0.279	6.582	0.21793	795	0.45444	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1446.98	53	chr8	10609233	.	C	T	1446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.74;DP=1224;ExcessHet=0.0000;FS=3.446;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=0.746;SOR=1.050	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1461,0,1510	20	0	1	0
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.027	B	0.014	B	.	.	1.000	N	0.345	N	3.31	T	-0.952	T	0.010	T	0.123	0.824	8.317	-1.96	-0.572	0.007	4.524	0.019	0.00154599027019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.957e-07	6.841e-06	1.384e-06	0	9.147e-07	0	0	.	.	0	0	0	0	0	0	9.147e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.352	0.17372	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.31	0.06291	T	-0.84	0.22944	N	0.246	0.27792	-0.9521	0.40608	T	0.010	0.03627	T	9	0.09340763	0.16528	T	0.001546	0.02420	T	0.019	0.03383	0.19	0.10039	0.252681307341	0.24864	0.04820050725330025	0.04763	.	.	0.277951002121	0.07208	T	.	.	.	-0.338111	0.05520	T	-0.723449	0.04631	T	0.104427913888091	0.12837	T	0.312769	0.06128	T	0.18423171	0.39729	0.18186693	0.41077	0.18423171	0.39728	0.18186693	0.41076	-5.006	0.36905	T	.	.	0.116	0.23500	B	.	.	1.339715	0.17462	13.18	0.83328979539444226	0.14666	0.00623	0.02749	N	AEFDBI	0.039816	0.05836	N	-1.21499860110366	0.04781	0.2165456	-1.31279977474022	0.04264	0.2007433	1.76998291139271E-4	0.05786	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.72	-1.96	0.07113	-0.566000	0.06013	-0.531000	0.08635	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4099:0.1824:0.4077:0.0	4.524	0.11378	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4444	23209.27	218	chr8	10609944	.	A	G	23209.27	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-3.977e+00;DP=5343;ExcessHet=20.9642;FS=235.485;InbreedingCoeff=-0.7143;MLEAC=18;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=5.49;ReadPosRankSum=0.786;SOR=14.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:231,95:326:99:0|1:10609943_C_T:1855,0,8054:10609943	2	0	16	3
chr8	10609948	10609948	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150C:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188301	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-1.090	0.153	0.493	0.514	-0.384	6.300	0.045	0.00162238193855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	1.642e-05	1.095e-05	6.912e-06	0.0003	4.99e-06	3.84e-06	0.0002	0.0002	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.10402462	0.19156	T	0.001622	0.02625	T	0.045	0.12272	0.278	0.23164	0.316788114976	0.31282	0.06568765536653219	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.397244	0.02413	T	-0.80839	0.01701	T	0.0790720420029634	0.09867	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.672697	0.10411	7.134	0.053606148112299815	0.00010	0.02277	0.06569	N	AEFDBI	0.028927	0.02637	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:230,94,0:324:99:0|1:10609943_C_T:1823,0,7986,2505,8257,10762:10609943	0	0	15	4
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-0.967	0.313	0.493	0.514	-0.384	6.300	0.050	0.00160529655429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	2.736e-06	1.369e-06	4.147e-06	3.01e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	3.01e-05	0	0	0	0	0	2.712e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.104384124	0.19241	T	0.001605	0.02574	T	0.050	0.13987	0.278	0.23164	0.316788114976	0.31282	0.06568764159549773	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.39725	0.02413	T	-0.808399	0.01701	T	0.0816829286653207	0.10202	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.735258	0.11045	7.700	0.060865936656048288	0.00019	0.01778	0.05572	N	AEFDBI	0.030371	0.03043	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:230,94,0:324:99:0|1:10609943_C_T:1823,0,7986,2505,8257,10762:10609943	0	0	15	4
chr8	11786184	11786184	C	A	exonic	NEIL2	.	nonsynonymous SNV	NEIL2:NM_001135747:exon4:c.C727A:p.P243T	.	.	415	1099	7	1	0	9	0.00407793	.	.	736407	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.999	D	0.000	D	1.000	D	2.24	M	1.92	T	-0.902	T	0.134	T	0.823	2.909	15.69	5.34	2.653	2.417	18.409	0.246	.	0.0016	0.00878594	0.0045	0.0049	0.0002	0.0129	0	9.231e-05	0.0046	0.0219	0.0039068	604	154602	rs8191666	0.0018	0.0018	0.0013	0.0023	0.0205	0.0017	0.0017	0.0197	0.0194	0.0030	6.709e-05	0.0010	0.0128	0	0.0002	1.529e-05	0.0023	0.0205	0.0021	0.0021	0.0017	0.0024	0.0203	0.0019	0.0018	0.0170	0.0158	0.0036	0	0.0001	0.0012	0.0116	0	0	2.94e-05	0.0019	0.0203	0.058	0.91255	T	0.039	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.050375	0.999804	0.50595	D	2.195	0.61839	M	1.92	0.23082	T	-3.53	0.70191	D	0.483	0.64818	-0.9019	0.47792	T	0.134	0.44700	T	10	0.0038172305	0.00072	T	.	.	.	0.246	0.55340	.	.	0.514530392947	0.51094	0.34968417371851507	0.34882	0.0158059045702	0.01510	0.342129707336	0.16758	T	0.066811	0.33041	T	-0.235692	0.15904	T	-0.0944119	0.63826	T	0.0333881853383401	0.02536	T	0.794321	0.43637	T	0.307088	0.53532	0.20098297	0.44057	0.307088	0.53532	0.20098297	0.44056	-9.408	0.74288	D	.	.	0.141	0.37895	B	.;.;.;.;.	.;.;.;.;.	3.230348	0.44050	21.9	0.99696037161289086	0.80248	0.93014	0.57109	D	AEFBI	0.308781	0.41527	N	0.536013517270405	0.69235	5.328236	0.455326558986163	0.65059	4.776159	0.999999838526092	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.34	5.34	0.75982	2.477000	0.44839	.	.	0.599000	0.40250	0.979000	0.35152	1.000000	0.68203	0.054000	0.15518	0.0:1.0:0.0:0.0	18.409	0.90487	958	0.09170	Zinc finger, DNA glycosylase/AP lyase-type;Zinc finger, DNA glycosylase/AP lyase-type;.;.;Zinc finger, DNA glycosylase/AP lyase-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2045.98	74	chr8	11786184	.	C	A	2045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.290e-01;DP=1306;ExcessHet=0.0000;FS=5.392;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=-1.325e+00;SOR=1.075	GT:AD:DP:GQ:PL	0/1:104,83:187:99:2060,0,2666	20	0	1	0
chr8	12186441	12186441	C	0	exonic	FAM86B1	.	.	.	.	.	506	833	66	2	115	185	0.0403226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	1276.77	130	chr8	12186441	.	C	G,*	1276.77	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-6.950e-01;DP=1097;ExcessHet=1.1607;FS=1.769;InbreedingCoeff=-0.1451;MLEAC=3,2;MLEAF=0.071,0.048;MQ=38.36;MQRankSum=-2.685e+00;QD=2.30;ReadPosRankSum=-9.370e-01;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,16,0:159:99:0|1:12186399_A_G:196,0,5470,626,5518,6143:12186399	16	0	3	0
chr8	12436289	12436289	G	C	exonic	FAM86B2	.	nonsynonymous SNV	FAM86B2:NM_001137610:exon1:c.C55G:p.R19G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.001	B	0.006	B	0.160	U	1.000	N	2.075	M	1.71	T	-0.989	T	0.067	T	0.479	1.813	12.02	1.05	0.878	0.590	5.499	0.171	.	.	.	0.0014	0.0128	0	0	.	0	0	0	3.84e-05	1	26028	rs766855558	0.0002	0.0003	0.0003	0.0002	0.0083	0.0002	0.0002	0.0074	0.0071	0.0083	0.0005	0	0	0	0.0003	5.296e-06	0.0006	0	0.0021	0.0029	0.0024	0.0018	0.0075	0.0019	0.0018	0.0068	0.0065	0.0075	0	0.0007	0	0	0	0	2.98e-05	0.0010	0	0.094	0.37966	T	0.243	0.26969	T	0.001	0.07471	B	0.006	0.12133	B	0.159540	0.03027	U	2.573600	0.660042	0.81001	D	2.325	0.66631	M	1.71	0.26737	T	-2.73	0.65512	D	0.187	0.20395	-0.9890	0.32853	T	0.067	0.27674	T	10	0.010516614	0.00234	T	.	.	.	0.171	0.43483	0.408	0.44230	0.043077524339	0.03247	0.4017182340036421	0.40087	2.63092040909	0.98348	0.85012114048	0.89633	D	0.017316	0.14146	T	-0.126443	0.32073	T	-0.419403	0.31144	T	0.0287773984428777	0.01803	T	0.772023	0.40277	T	0.19116896	0.40733	0.15798588	0.36916	0.19116896	0.40733	0.15798588	0.36915	-6.283	0.48587	T	.	.	0.110	0.38462	B	.;.;.	.;.;.	2.765938	0.36290	20.2	0.86771110503715476	0.16761	0.33933	0.24947	N	AEFDGI	0.084145	0.17052	N	-0.745773523590475	0.14749	0.7373186	-0.809230027004746	0.14272	0.7448904	0.0188493186001826	0.13102	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	1.05	1.05	0.19280	0.195000	0.16960	3.946000	0.40638	-0.681000	0.04224	0.998000	0.41325	1.000000	0.68203	0.035000	0.13729	0.0:0.0:1.0:0.0	5.499	0.16110	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	41.42	8	chr8	12436289	.	G	C	41.42	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.220;DP=211;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0449;MLEAC=1;MLEAF=0.024;MQ=33.11;MQRankSum=0.144;QD=1.88;ReadPosRankSum=1.02;SOR=0.770	GT:AD:DP:GQ:PL	0/1:18,4:22:55:55,0,465	20	0	1	0
chr8	20148022	20148022	G	A	exonic	SLC18A1	.	nonsynonymous SNV	SLC18A1:NM_001142324:exon13:c.C1099T:p.L367F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.967	D	0.001	D	1.000	D	1.95	M	0.32	T	-0.370	T	0.331	T	0.547	2.497	14.31	4.89	2.256	0.329	12.504	0.325	0.0274871577786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.049	0.48336	D	0.997	0.70673	D	0.959	0.70163	D	0.000529	0.43581	D	0.195688	0.999926	0.51308	D	2.595	0.75868	M	0.31	0.58613	T	-3.39	0.66896	D	0.59	0.61002	-0.3700	0.72961	T	0.331	0.69843	T	10	0.43091834	0.57484	T	0.027487	0.50293	D	0.325	0.64725	0.602	0.73346	0.227260227426	0.22338	0.8961176231425869	0.89582	0.00504601159688	0.00449	0.498041033745	0.38554	T	0.343375	0.71203	T	-0.0186257	0.49049	T	-0.264531	0.48371	T	0.972477674484253	0.69713	D	0.861714	0.57430	D	0.34236172	0.56466	0.4588394	0.68559	0.34236172	0.56466	0.4588394	0.68560	-7.653	0.58680	D	.	.	0.226	0.60693	B	.;.;.;.;.;.	.;.;.;.;.;.	4.004179	0.59023	24.0	0.99838424170215689	0.91886	0.27143	0.23194	N	AEFDBI	0.275031	0.39008	N	0.25318607950237	0.53797	3.547129	0.19010170719913	0.49303	3.135162	0.999869283902452	0.44398	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.89	4.89	0.63387	0.389000	0.20478	5.018000	0.46723	0.676000	0.76740	0.082000	0.22389	1.000000	0.68203	0.989000	0.64315	0.0:0.1685:0.8315:0.0	12.504	0.55315	952	0.10565	.;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2896.98	45	chr8	20148022	.	G	A	2896.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.945;DP=1219;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-1.472e+00;SOR=0.697	GT:AD:DP:GQ:PL	0/1:137,119:256:99:2911,0,3301	20	0	1	0
chr8	24442522	24442522	G	T	exonic	ADAM7	.	nonsynonymous SNV	ADAM7:NM_003817:exon2:c.G102T:p.K34N,	.	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.922	P	0.742	P	0.492	N	1.000	N	2.575	M	3.22	T	-1.077	T	0.047	T	0.081	1.444	10.77	1.43	0.303	0.700	5.864	0.056	0.00536651275596	0.0002	0.000599042	0.0003	0.0003	0.0003	0	0.0003	0.0003	0	0.0003	0.0002458	38	154602	rs146117431	0.0004	0.0004	0.0004	0.0004	0.0062	0.0004	0.0004	0.0046	0.0041	0.0003	0.0005	0	0	0.0002	0.0062	0.0004	0.0007	0.0002	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0002	0	6.542e-05	0	0	9.429e-05	0.0068	0.0004	0.0028	0.0002	0.027	0.63226	D	0.014	0.72224	D	0.922	0.51142	P	0.742	0.55764	P	0.492338	0.12043	N	0.737317	0.999999	0.08975	N	2.655	0.77738	M	3.22	0.07024	T	-3.51	0.68298	D	0.257	0.34767	-1.0768	0.07983	T	0.047	0.20195	T	10	0.05808127	0.06773	T	0.005367	0.13771	T	0.056	0.15993	0.731	0.86460	0.388812400583	0.38497	0.4512355964274962	0.45041	0.306425813064	0.32941	0.399008542299	0.24931	T	0.088831	0.43789	T	-0.53019	0.00383	T	-0.665208	0.07919	T	0.0554332700838893	0.06429	T	0.693931	0.30359	T	0.22774166	0.45480	0.19811907	0.43629	0.22774166	0.45480	0.19811907	0.43628	-5.604	0.53698	T	.	.	0.639	0.70478	P	.;.;.	.;.;.	2.383390	0.30594	18.49	0.99554569252469893	0.71335	0.06663	0.12681	N	AEFI	0.039053	0.05619	N	-0.173834730936027	0.34227	1.951068	-0.404993636500972	0.24850	1.36314	1.5213647629851E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.33	1.43	0.21585	0.722000	0.25595	0.691000	0.20763	0.671000	0.69459	0.034000	0.20669	0.120000	0.22892	0.636000	0.32315	0.359:0.0:0.641:0.0	5.864	0.18016	852	0.35056	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3643.11	38	chr8	24442522	.	G	T	3643.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.703e+00;DP=957;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=1.77;SOR=0.710	GT:AD:DP:GQ:PL	0/1:73,91:164:99:2028,0,1706	19	0	2	0
chr8	28780872	28780872	G	C	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon11:c.C1158G:p.H386Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.988	D	0.869	P	0.000	D	1.000	D	2.115	M	0.93	T	-0.886	T	0.159	T	0.906	4.104	21.1	0.193	0.076	0.581	10.624	0.284	0.016436562205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.942e-05	2.723e-06	1.375e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.943	0.53072	P	0.823	0.59197	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.935	0.51832	L	0.9	0.46412	T	-6.4	0.91184	D	0.958	0.97317	-0.8865	0.49231	T	0.159	0.49296	T	10	0.78347826	0.78049	D	0.016437	0.37697	T	0.284	0.60219	0.331	0.31681	0.611786747218	0.60866	0.7458400941079445	0.74530	1.09661947037	0.77599	0.802756369114	0.82384	T	0.389927	0.75023	T	0.189418	0.72910	D	0.0343095	0.72559	D	0.994060456752777	0.85148	D	0.789321	0.45144	T	0.9127507	0.92552	0.8257955	0.89911	0.9127507	0.92554	0.8257955	0.89912	-11.639	0.83227	D	.	.	0.945	0.89314	P	.;.;.	.;.;.	3.184076	0.43231	21.7	0.99337460911012421	0.60051	0.90823	0.52327	D	AEFBI	0.386581	0.46689	N	0.15838004896007	0.49210	3.123909	0.105560327046998	0.44831	2.757433	0.984078514391494	0.30659	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.97	0.193	0.14419	0.609000	0.23935	1.081000	0.23892	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.5112:0.0:0.4888:0.0	10.624	0.44686	533	0.73433	Beta-Casp domain|Beta-Casp domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	935.59	59	chr8	28780872	.	G	C	935.59	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.284e+00;DP=1729;ExcessHet=4.7172;FS=229.301;InbreedingCoeff=-0.2916;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=-6.400e-02;SOR=11.592	GT:AD:DP:GQ:PL	0/1:71,28:104:99:184,0,1359	12	0	9	0
chr8	73024874	73024874	C	A	exonic	TERF1	.	nonsynonymous SNV	TERF1:NM_003218:exon5:c.C677A:p.S226Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.992	D	0.903	P	0.026	N	1.000	N	1.1	L	.	.	-1.005	T	0.146	T	0.499	2.476	14.24	3.94	1.412	1.856	9.545	0.251	0.00455764551417	.	0.00119808	0.0004	0.0001	8.87e-05	0	0	0	0	0.0025	0.0003169	49	154602	rs547949193	0.0001	0.0001	7.206e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	3.043e-05	0	0	0	0	0	4.527e-06	8.378e-05	0.0022	0.0002	0.0002	0.0001	0.0002	0.0035	0.0001	8.717e-05	0.0022	0.0018	2.408e-05	0	0	0	0	0	0	7.353e-05	0	0.0035	0.054	0.58626	T	0.014	0.63109	D	0.992	0.64738	D	0.903	0.64103	P	0.025879	0.26015	N	0.408600	0.999922	0.19486	N	2.2	0.62015	M	.	.	.	-2.81	0.59389	D	0.436	0.53269	-1.0047	0.28547	T	0.146	0.47111	T	9	0.0089553	0.00203	T	0.004558	0.11252	T	0.251	0.56024	.	.	0.510777188826	0.50718	0.1371765793372844	0.13641	0.722684198282	0.62304	0.466367840767	0.34183	T	0.788633	0.94487	D	-0.295857	0.09057	T	-0.20423	0.54245	T	0.123079762129914	0.14728	T	0.725927	0.34027	T	0.2255506	0.45219	0.20847195	0.45151	0.2255506	0.45219	0.20847195	0.45150	-8.784	0.66296	D	.	.	0.141	0.35352	B	.;.;.	.;.;.	3.724868	0.53253	23.3	0.99257926454918532	0.57121	0.45097	0.27463	N	AEFBI	0.071661	0.14274	N	0.197724198163122	0.51089	3.293057	0.14534314055333	0.46895	2.928225	0.999161387048251	0.38622	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.77	3.94	0.44807	2.036000	0.40786	3.348000	0.37762	0.599000	0.40250	0.769000	0.29345	0.998000	0.33993	0.920000	0.45560	0.0:0.8311:0.0:0.1689	9.545	0.38440	941	0.13089	Telomere repeat-binding factor, dimerisation domain|Telomere repeat-binding factor, dimerisation domain;.;Telomere repeat-binding factor, dimerisation domain|Telomere repeat-binding factor, dimerisation domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2560.08	33	chr8	73024874	.	C	A	2560.08	.	AC=2;AF=0.048;AN=42;DP=775;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=59.91;QD=30.84;SOR=1.112	GT:AD:DP:GQ:PL	1/1:0,83:83:99:2588,249,0	20	1	0	0
chr8	89981417	89981417	G	A	exonic	NBN	.	nonsynonymous SNV	NBN:NM_002485:exon3:c.C278T:p.S93L	Aplastic anemia;Leukemia, acute lymphoblastic;Nijmegen breakage syndrome, Autosomal recessive	YES	5	1515	2	0	0	2	0.000659631	.	.	151941	Malignant_tumor_of_breast|Microcephaly,_normal_intelligence_and_immunodeficiency|Hereditary_cancer-predisposing_syndrome|not_provided|not_specified	MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260,Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.944	P	0.461	P	0.026	N	0.878	D	1.545	L	0.18	T	0.443	D	0.612	D	0.217	3.693	18.76	5.71	2.682	5.441	19.844	0.457	0.0811154088027	0.0003	0.000798722	0.0007	0	0.0003	0	0	0.0002	0.0011	0.0044	0.0006015	93	154602	rs12721593	0.0004	0.0004	0.0002	0.0005	0.0045	0.0004	0.0004	0.0042	0.0040	5.975e-05	8.944e-05	0	0	9.362e-05	0	0.0001	0.0002	0.0045	0.0002	0.0002	0.0001	0.0002	0.0039	0.0001	9.244e-05	0.0026	0.0021	2.41e-05	0	0	0	0	0	0	5.883e-05	0	0.0039	0.004	0.65419	D	0.041	0.56192	D	0.944	0.53183	P	0.461	0.46460	P	0.026024	0.25988	N	0.469798	0.878238	0.35697	D	2.02	0.55341	M	-2.34	0.87989	D	-3.08	0.67941	D	0.234	0.27197	0.443	0.89732	D	0.612	0.86267	D	10	0.013203561	0.00281	T	0.081115	0.73610	D	0.457	0.75551	.	.	0.951362630218	0.95084	0.3475136658926152	0.34665	0.111525478306	0.12590	0.354317069054	0.18556	T	0.372479	0.73665	T	-0.293759	0.09262	T	-0.194749	0.55143	T	0.102795711967771	0.12662	T	0.913209	0.70302	D	0.29610965	0.52554	0.45432168	0.68270	0.26362443	0.49428	0.41867685	0.65884	-11.508	0.82372	D	.	.	0.122	0.25882	B	.;.;.;.;.	.;.;.;.;.	4.124567	0.61670	24.4	0.99882310107774175	0.95813	0.90895	0.52464	D	AEFDBCI	0.668672	0.63637	D	0.436439098388469	0.63439	4.577505	0.468873688622854	0.65937	4.887405	0.999999999999903	0.74766	0.75658	0.98901	0	0.672317	0.65289	0	0.658983	0.55881	0	0.656636	0.63459	0	.	.	5.71	5.71	0.89031	7.172000	0.77164	6.514000	0.55815	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.326000	0.25110	0.0:0.0:1.0:0.0	19.844	0.96699	896	0.25515	Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;.;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.04762	2059.08	33	chr8	89981417	.	G	A	2059.08	.	AC=2;AF=0.048;AN=42;DP=752;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.28;SOR=1.352	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2087,204,0	20	1	0	0
chr8	98089670	98089670	T	C	exonic	ERICH5	.	nonsynonymous SNV	ERICH5:NM_173549:exon2:c.T653C:p.L218P,	.	.	424	1096	2	0	0	2	0.000911577	.	.	2764306	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.32	T	0.016	B	0.024	B	0.668	N	0.998	N	-0.255	N	0.93	T	-1.022	T	0.039	T	0.128	2.408	14.01	-4.28	-0.553	-1.403	6.162	0.018	0.00821205620561	.	.	0.0001	0	0	0	0	0.0002	0	0.0003	9.7e-05	15	154602	rs767892396	5.951e-05	5.951e-05	4.084e-05	7.838e-05	0.0010	4.883e-05	4.561e-05	0.0005	0.0003	0	0	0.0010	0	0	0.0010	2.608e-05	9.934e-05	0.0002	5.914e-05	5.91e-05	3.854e-05	8.07e-05	5.879e-05	3.077e-05	2.21e-05	1.972e-05	1.124e-05	2.413e-05	0	0	0.0012	0	0	0	5.879e-05	0	0	0.149	0.24758	T	0.174	0.30045	T	0.016	0.17332	B	0.024	0.20255	B	0.667897	0.10368	N	0.806395	0.997878	0.22465	N	0.99	0.25021	L	0.93	0.44065	T	0.61	0.02480	N	0.079	0.05414	-1.0225	0.22899	T	0.039	0.16763	T	10	0.0121243	0.00262	T	0.008212	0.21750	T	0.018	0.03083	0.254	0.19378	0.0806252709748	0.07271	0.02879414515105489	0.02829	0.388138279371	0.40076	.	.	.	0.028318	0.20539	T	-0.489919	0.00650	T	-0.662076	0.08126	T	0.0304616427443796	0.02061	T	0.330167	0.06908	T	0.062627934	0.13102	0.102735676	0.24631	0.062627934	0.13102	0.102735676	0.24630	-5.09	0.37802	T	.	.	0.073	0.04477	B	.	.	0.790528	0.11611	8.198	0.94640785755255097	0.25237	0.00821	0.03316	N	AEFDBI	0.074184	0.14861	N	-1.25794662885391	0.04196	0.1889146	-1.27689781931562	0.04744	0.2245055	0.043108242516699	0.14555	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.05	-4.28	0.03475	-1.035000	0.03674	-8.695000	0.00928	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.746000	0.35646	0.1259:0.4293:0.0:0.4447	6.162	0.19586	828	0.39726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1138.98	34	chr8	98089670	.	T	C	1138.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=783;ExcessHet=0.0000;FS=3.809;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=0.478;SOR=0.859	GT:AD:DP:GQ:PL	0/1:51,43:94:99:1153,0,1318	20	0	1	0
chr8	103407655	103407655	G	T	exonic	SLC25A32	.	nonsynonymous SNV	SLC25A32:NM_030780:exon2:c.C284A:p.S95Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	1.425	L	-1.13	T	0.146	D	0.586	D	0.939	5.006	29.4	6.05	2.878	9.209	20.601	0.720	0.0814535959955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.922e-07	2.052e-06	0	1.391e-06	1.193e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.193e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.525	0.38595	L	-1.13	0.77719	T	-4.91	0.81595	D	0.85	0.84609	0.146	0.84994	D	0.586	0.85136	D	10	0.77523935	0.77405	D	0.081454	0.73685	D	0.720	0.90101	0.601	0.73226	0.959910426691	0.95948	0.9558615347823418	0.95571	1.18352259059	0.80076	0.842682242393	0.88503	D	0.419	0.77103	T	0.383882	0.88958	D	0.313643	0.88819	D	0.997229516506195	0.91055	D	0.953705	0.92740	D	0.7844398	0.82927	0.87983084	0.93550	0.7844398	0.82929	0.87983084	0.93550	-15.745	0.97354	D	0.5094422009341021	0.58341	0.986	0.92454	P	.;.	.;.	5.515153	0.91724	32	0.99531996772705678	0.69963	0.99122	0.91549	D	AEFDBI	0.895449	0.83548	D	0.867906317725755	0.90103	10.25409	0.89855948163482	0.95508	13.69057	1.0	0.98316	0.706298	0.61202	0	0.685571	0.66316	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	6.05	6.05	0.98156	9.332000	0.96418	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.601	0.99460	327	0.86637	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	611.98	40	chr8	103407655	.	G	T	611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=732;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=0.366;SOR=0.709	GT:AD:DP:GQ:PL	0/1:27,25:52:99:626,0,590	20	0	1	0
chr8	103998243	103998243	G	A	exonic	RIMS2	.	nonsynonymous SNV	RIMS2:NM_001348499:exon15:c.G2479A:p.D827N	.	.	442	1047	32	1	0	34	0.0159774	.	.	2821222	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.48	T	0.328	B	0.178	B	.	.	1.000	D	0.55	N	2.77	T	-1.034	T	0.023	T	0.148	1.622	11.38	4.59	2.382	4.878	16.328	0.031	0.00636569129297	0.0034	0.00199681	0.0043	0.0011	0.0028	0	0.0047	0.0061	0.0067	0.0019	0.0040556	627	154602	rs182266368	0.0040	0.0041	0.0040	0.0041	0.0413	0.0039	0.0039	0.0370	0.0353	0.0015	0.0042	0.0158	0	0.0048	0.0413	0.0038	0.0055	0.0022	0.0035	0.0035	0.0036	0.0033	0.0045	0.0032	0.0031	0.0040	0.0039	0.0009	0	0.0040	0.0159	0	0.0037	0.0238	0.0045	0.0081	0.0010	0.468	0.10588	T	0.528	0.15554	T	0.328	0.33195	B	0.178	0.35748	B	.	.	.	.	1	0.81001	D	.	.	.	2.44	0.15843	T	0.16	0.05217	N	0.536	0.58798	-1.0343	0.19078	T	0.023	0.09604	T	9	0.005559504	0.00123	T	0.006366	0.16725	T	0.031	0.07369	.	.	0.200294437569	0.19612	.	.	.	.	.	.	.	0.059464	0.31122	T	-0.578152	0.00198	T	-0.599246	0.12875	T	0.0145750985717888	0.00299	T	0.913009	0.69301	D	.	.	.	.	.	.	.	.	-4.421	0.29840	T	.	.	0.105	0.29751	B	.;.;.;.	.;.;.;.	3.742474	0.53593	23.4	0.96533118320416411	0.30158	0.92319	0.55438	D	AEFI	0.647054	0.62237	D	-0.0542186269178862	0.39414	2.323939	0.117775738311659	0.45459	2.808616	0.772613454764295	0.23698	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.59	4.59	0.56297	4.990000	0.63609	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.328	0.82823	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1993.11	34	chr8	103998243	.	G	A	1993.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.310e-01;DP=847;ExcessHet=0.1072;FS=1.146;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=0.311;SOR=0.791	GT:AD:DP:GQ:PL	0/1:58,48:106:99:1035,0,1370	19	0	2	0
chr8	123369919	123369924	TCATCA	-	exonic	ATAD2	.	nonframeshift deletion	ATAD2:NM_014109:exon7:c.828_833del:p.D276_D277del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.0054	0.0011	0.0358	0	0.0010	0.0037	0.0065	0.0001153	3	26028	rs757527760	0.0024	0.0024	0.0023	0.0026	0.0445	0.0024	0.0023	0.0427	0.0420	0.0041	0.0008	0.0055	0.0445	5.891e-05	0.0131	0.0006	0.0029	0.0059	0.0033	0.0032	0.0031	0.0034	0.0346	0.0030	0.0029	0.0304	0.0288	0.0040	0	0.0011	0.0046	0.0346	0	0.0068	0.0010	0.0029	0.0090	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	869.94	34	chr8	123369918	.	TTCATCA	T	869.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.142e+00;DP=749;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=-1.461e+00;SOR=0.719	GT:AD:DP:GQ:PL	0/1:33,25:58:99:884,0,1262	20	0	1	0
chr8	132804005	132804005	G	C	exonic	PHF20L1	.	nonsynonymous SNV	PHF20L1:NM_001277196:exon6:c.G616C:p.D206H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.951	P	0.748	P	0.143	N	1.000	D	0	N	1.46	T	-0.812	T	0.133	T	0.211	3.663	18.62	5.44	2.563	7.159	18.256	0.133	0.0217428298653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0042	0.0012	0.0011	0.0014	0.0011	0.0011	0.0014	0.0013	0.0008	6.755e-05	0.0005	0.0002	0.0001	0.0005	0.0014	0.0012	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.061	0.60337	T	0.808	0.45299	P	0.748	0.55971	P	0.142512	0.18241	N	0.607210	0.990395	0.81001	D	0	0.06538	N	0.79	0.49358	T	-2.41	0.52938	N	0.218	0.33140	-0.8119	0.54435	T	0.133	0.44622	T	10	0.1628164	0.30505	T	0.021743	0.44549	T	0.133	0.36157	0.088	0.00943	0.110392049598	0.10638	0.3606634752202491	0.35980	0.966220291154	0.73190	0.357738494873	0.19055	T	0.078333	0.35868	T	-0.114604	0.34010	T	-0.402397	0.33106	T	0.784143755589366	0.45311	D	0.943306	0.81134	D	0.2447809	0.47430	0.25823152	0.51552	0.2447809	0.47430	0.25823152	0.51551	-6.4	0.58645	T	.	.	0.217	0.48948	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.821248	0.78525	26.9	0.99493893563194913	0.67630	0.98845	0.87614	D	AEFDBI	0.837614	0.75522	D	0.361968079601839	0.59374	4.116332	0.491946387230629	0.67454	5.086353	0.999743363373417	0.42466	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.656000	0.82725	11.836000	0.97677	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.256	0.89958	887	0.27948	Domain of unknown function DUF3776;Domain of unknown function DUF3776;Domain of unknown function DUF3776;Domain of unknown function DUF3776;.;Domain of unknown function DUF3776;Domain of unknown function DUF3776	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	132.79	34	chr8	132804005	.	G	C	132.79	.	AC=3;AF=0.100;AN=30;BaseQRankSum=-2.844e+00;DP=1194;ExcessHet=0.3300;FS=125.612;InbreedingCoeff=-0.1665;MLEAC=4;MLEAF=0.133;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=0.472;SOR=9.270	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:47,10:57:19:.:.:19,0,965	12	0	3	6
chr8	143215486	143215486	G	C	exonic	GPIHBP1	.	nonsynonymous SNV	GPIHBP1:NM_178172:exon4:c.G523C:p.G175R,	Hyperlipoproteinemia, type 1D, Autosomal recessive	YES	402	1117	3	0	0	3	0.00134108	.	.	153747	Hyperlipoproteinemia,_type_1D|GPIHBP1-related_disorder|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0014412,MedGen:C4014767,OMIM:615947,Orphanet:444490,Orphanet:535458|.|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.993	D	0.831	P	0.868	N	1.000	N	0.695	N	-1.8	D	-0.539	T	0.345	T	0.314	2.100	12.98	-4.12	-1.291	-0.429	5.997	0.721	0.0667380994633	0.0021	0.00219649	0.0011	0.0073	0.0021	0	0	0.0005	0.0044	0	0.0008473	131	154602	rs145844329	0.0006	0.0006	0.0006	0.0006	0.0053	0.0006	0.0006	0.0047	0.0044	0.0053	0.0017	0.0005	0	0.0001	0.0020	0.0005	0.0014	5.814e-05	0.0020	0.0020	0.0020	0.0020	0.0055	0.0018	0.0017	0.0049	0.0047	0.0055	0	0.0012	0.0012	0	9.411e-05	0.0102	0.0005	0.0043	0	.	.	.	0.015	0.61642	D	.	.	.	.	.	.	0.867515	0.08849	N	0.924044	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.184	0.19995	-0.5388	0.67208	T	0.345	0.71004	T	10	0.01230523	0.00265	T	0.066738	0.69964	D	.	.	.	.	0.488757021912	0.48508	0.783717957866859	0.78322	.	.	0.358868032694	0.19220	T	.	.	.	-0.502283	0.00555	T	-0.492214	0.23159	T	0.0388956787987601	0.03491	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467	0.63033	A	.	.	0.652615	0.10212	6.949	0.93599898295013573	0.23457	0.03907	0.09289	N	AEFDBI	0.105086	0.21008	N	-0.713715911269836	0.15635	0.7897153	-0.971493214629424	0.10429	0.5251846	0.107372829030956	0.16554	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.19	-4.12	0.03650	-1.759000	0.01906	.	.	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6117:0.1518:0.2366:0.0	5.997	0.18731	981	0.03995	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1049.98	46	chr8	143215486	.	G	C	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=903;ExcessHet=0.0000;FS=1.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=0.491;SOR=0.569	GT:AD:DP:GQ:PL	0/1:38,41:79:99:1064,0,907	20	0	1	0
chr8	143429787	143429789	TGG	-	exonic	MAFA	.	nonframeshift deletion	MAFA:NM_201589:exon1:c.618_620del:p.H208del,	.	.	264	254	1	13	990	1017	0.0504673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	51136.5	54	chr8	143429783	.	ATGGTGG	ATGG,A	51136.5	.	AC=38,4;AF=0.905,0.095;AN=42;BaseQRankSum=1.21;DP=1755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=38,4;MLEAF=0.905,0.095;MQ=60.00;MQRankSum=0.00;QD=34.47;ReadPosRankSum=0.693;SOR=0.738	GT:AD:DP:GQ:PL	1/1:0,51,4:55:21:2233,154,0,2104,21,2328	0	17	0	0
chr8	143567270	143567270	C	T	exonic	MROH6	.	nonsynonymous SNV	MROH6:NM_001100878:exon14:c.G2129A:p.R710H,	.	.	452	1064	6	0	0	6	0.00281162	.	.	2342916	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.01	B	0.005	B	.	.	1.000	N	0.69	N	3.9	T	-0.941	T	0.008	T	0.156	2.642	14.80	1.96	0.594	0.852	4.358	0.033	0.0493923179371	.	.	0	.	.	.	.	.	.	.	3.84e-05	1	26028	rs757730419	0.0002	0.0002	0.0002	0.0002	0.0056	0.0002	0.0002	0.0035	0.0029	0.0002	0.0007	0.0006	0	0	0.0056	0.0002	0.0005	0.0006	0.0003	0.0003	0.0003	0.0004	0.0015	0.0003	0.0002	0.0007	0.0005	2.411e-05	0	0.0009	0.0009	0	0	0.0069	0.0003	0.0014	0.0015	0.035	0.91255	D	0.0	0.92824	D	0.01	0.15535	B	0.005	0.11217	B	.	.	.	.	0.999764	0.20447	N	1.935	0.51832	L	3.9	0.03516	T	-1.01	0.81835	N	0.097	0.07811	-0.9411	0.42442	T	0.008	0.02968	T	9	0.018553495	0.00405	T	0.049392	0.63793	D	0.033	0.08068	.	.	0.0138822411134	0.00435	0.09507526324778336	0.09439	0.0211500251909	0.02094	0.631267845631	0.57325	T	0.005378	0.04831	T	-0.240024	0.15346	T	-0.582555	0.14317	T	0.441480308771133	0.30484	T	0.535646	0.17968	T	0.03580806	0.04285	0.04899516	0.07393	0.03580806	0.04285	0.04899516	0.07392	-5.24	0.39346	T	.	.	0.128	0.31532	B	.;.;.;.	.;.;.;.	2.965707	0.39511	21.0	0.99698225517642292	0.80453	0.22302	0.21700	N	AEFBHCI	0.231581	0.35478	N	-0.7970219194529	0.13387	0.6591392	-0.716040123969151	0.16561	0.8767052	0.999999976875098	0.74766	0.62174	0.39705	0	0.550933	0.16991	0	0.491614	0.08109	1	0.691587	0.68394	0	.	.	4.96	1.96	0.25203	0.154000	0.16160	.	.	-0.835000	0.02838	0.353000	0.25784	0.053000	0.21875	0.310000	0.24737	0.1567:0.5997:0.1526:0.0909	4.358	0.10624	952	0.10565	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	423.02	20	chr8	143567270	.	C	T	423.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.214e+00;DP=410;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0273;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.27;ReadPosRankSum=-2.600e-01;SOR=0.615	GT:AD:DP:GQ:PL	0/1:7,19:26:99:437,0,129	20	0	1	0
chr8	143919407	143919407	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.G10372A:p.G3458S	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	U	1.000	D	3.735	H	-2.13	D	0.978	D	0.864	D	0.608	3.152	16.54	5.03	2.613	7.604	18.172	0.863	0.317296567187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000006	0.62929	U	0.000000	1	0.81001	D	4.065	0.97128	H	-2.13	0.86349	D	-2.87	0.62151	D	0.759	0.77413	0.978	0.96830	D	0.864	0.95479	D	10	0.97266114	0.96917	D	0.317297	0.91368	D	0.863	0.95839	0.888	0.97226	0.804712098452	0.80288	0.6352390361014003	0.63457	.	.	0.797273278236	0.81549	T	0.306744	0.67893	T	0.213307	0.75143	D	0.0686241	0.74818	D	0.998907089233398	0.95536	D	0.920408	0.71216	D	0.17714354	0.38664	0.28254586	0.54243	0.17714354	0.38664	0.28254586	0.54242	-11.999	0.84847	D	0.7223865745091111	0.80355	0.501	0.66700	A	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.731513	0.53380	23.4	0.97336163685586252	0.33452	0.98333	0.81724	D	AEFGBHCI	0.949719	0.96263	D	0.947973953546102	0.93904	12.35925	0.853908934774206	0.93244	11.91539	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.03	5.03	0.67015	7.779000	0.84281	.	.	0.577000	0.29297	1.000000	0.71638	1.000000	0.68203	0.264000	0.23619	0.0:1.0:0.0:0.0	18.172	0.89682	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	4942.98	112	chr8	143919407	.	C	T	4942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.91;DP=2216;ExcessHet=0.0000;FS=4.500;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.64;ReadPosRankSum=0.046;SOR=0.931	GT:AD:DP:GQ:PL	0/1:141,175:316:99:4957,0,3570	20	0	1	0
chr8	143942342	143942403	GAGAGCGATGGTGGCCCCTTCTGTGCCACCGGCCACGCCACTGCACCCACCTACGCAGCACA	-	exonic	PLEC	.	nonframeshift deletion	PLEC:NM_201383:exon1:c.113_124del:p.L38_D42delinsH,	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	3219869	PLEC-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0.0012	0.0013	0.0011	0.0013	0.0072	0.0011	0.0011	0.0053	0.0046	0.0012	0.0010	0.0003	0.0009	2.144e-05	0.0072	0.0010	0.0015	0.0035	0.0015	0.0015	0.0014	0.0016	0.0044	0.0013	0.0013	0.0029	0.0025	0.0016	0	0.0011	0.0006	0.0021	0	0.0068	0.0016	0.0014	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	346.94	33	chr8	143942341	.	TGAGAGCGATGGTGGCCCCTTCTGTGCCACCGGCCACGCCACTGCACCCACCTACGCAGCACA	T	346.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.23;DP=709;ExcessHet=0.0000;FS=1.330;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.71;ReadPosRankSum=-6.810e-01;SOR=0.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,11:45:99:0|1:143942328_CAGCCCCACT_C:361,0,1393:143942328	20	0	1	0
chr8	144547972	144547972	C	G	exonic	ARHGAP39	.	nonsynonymous SNV	ARHGAP39:NM_025251:exon4:c.G1114C:p.V372L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.069	B	0.051	B	0.005	N	0.820	N	1.59	L	-0.2	T	-0.729	T	0.224	T	0.494	2.684	14.94	4.48	1.232	5.905	11.020	0.144	0.0410573399414	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1033008814	6.868e-07	6.84e-07	1.366e-06	0	2.993e-05	0	0	.	.	2.993e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.54	0.09760	T	0.069	0.23796	B	0.051	0.25434	B	0.005226	0.32979	N	0.238434	0.819839	0.28896	N	2.045	0.56016	M	-0.2	0.70014	T	-0.7	0.20358	N	0.455	0.49237	-0.7285	0.59039	T	0.224	0.58856	T	10	0.23855534	0.40978	T	0.041057	0.59718	D	0.144	0.38394	0.172	0.07774	0.769326350214	0.76721	0.2295235665503005	0.22867	0.425626732373	0.42963	0.464285492897	0.33897	T	0.029812	0.21277	T	0.00590941	0.52466	T	-0.229288	0.51840	T	0.409848392009735	0.29312	T	0.939806	0.77272	D	0.07343526	0.16409	0.07749659	0.17268	0.07343526	0.16409	0.07749659	0.17267	-2.977	0.10486	T	.	.	0.172	0.37820	B	.;.	.;.	3.163431	0.42872	21.6	0.99130782291494313	0.53249	0.99075	0.90859	D	AEFGBI	0.775076	0.70860	D	0.0230256336539701	0.42902	2.593903	0.167061072345851	0.48054	3.02654	0.997591807087164	0.35797	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.37	4.48	0.53973	4.874000	0.62758	4.818000	0.45095	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.9066:0.0:0.0934	11.020	0.46932	879	0.29470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1391.98	41	chr8	144547972	.	C	G	1391.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.120e-01;DP=909;ExcessHet=0.0000;FS=0.613;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.22;ReadPosRankSum=0.715;SOR=0.793	GT:AD:DP:GQ:PL	0/1:90,61:151:99:1406,0,2460	20	0	1	0
chr8	144889653	144889653	G	A	exonic	ZNF250	.	stopgain	ZNF250:NM_001109689:exon4:c.C211T:p.R71X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	.	.	.	.	0.009	N	1.000	A	.	.	.	.	.	.	.	.	.	3.338	17.24	2.16	1.070	1.293	12.033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.009500	0.30337	N	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.175	0.19325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549544	0.95746	D	0.551606	0.95683	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.;.	High;.;.;.;.	7.613155	0.96692	36	0.99603368106970414	0.74338	0.41268	0.26620	N	AEFDGBI	0.091771	0.18586	N	0.525085049349278	0.68576	5.236473	0.262412335998258	0.53358	3.50522	0.131927352088035	0.17107	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.18	2.16	0.26663	0.624000	0.24156	2.573000	0.33375	0.596000	0.33519	0.002000	0.15269	0.987000	0.30940	0.905000	0.44082	0.0:0.0:0.6935:0.3065	12.033	0.52701	710	0.56735	Krueppel-associated box|Krueppel-associated box;.;Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1200.98	34	chr8	144889653	.	G	A	1200.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.370e-01;DP=788;ExcessHet=0.0000;FS=6.601;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=0.250;SOR=0.383	GT:AD:DP:GQ:PL	0/1:45,49:94:99:1215,0,1101	20	0	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	10566.34	45	chr9	117371	.	C	G,*	10566.34	.	AC=21,5;AF=0.500,0.119;AN=42;BaseQRankSum=1.69;DP=683;ExcessHet=1.5101;FS=0.547;InbreedingCoeff=-0.0096;MLEAC=21,5;MLEAF=0.500,0.119;MQ=45.38;MQRankSum=-4.449e+00;QD=18.70;ReadPosRankSum=-5.950e-01;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,23,0:23:69:.:.:879,69,0,879,69,879	3	5	9	0
chr9	4635379	4635379	A	G	exonic	SPATA6L	.	nonsynonymous SNV	SPATA6L:NM_001353486:exon4:c.T247C:p.Y83H	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	0.000	D	1.000	D	.	.	1.03	T	-0.092	T	0.430	T	0.843	4.088	21.0	5.5	2.099	4.211	13.130	0.425	0.317153610716	.	0.000199681	0.0002	0	8.708e-05	0	0	0	0.0022	0.0015	0.0001811	28	154602	rs572124054	8.745e-05	8.824e-05	1.933e-05	0.0002	0.0015	7.46e-05	7.003e-05	0.0013	0.0012	0	0	0	0	0	0	0	5.042e-05	0.0015	5.91e-05	5.906e-05	1.285e-05	0.0001	0.0019	3.076e-05	2.209e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000025	0.55875	D	0.071137	0.653952	0.81001	D	.	.	.	-0.05	0.63403	T	-3.2	0.64710	D	0.654	0.66443	-0.0918	0.80287	T	0.430	0.77186	T	9	0.18701953	0.34193	T	0.317154	0.91364	D	0.425	0.73299	.	.	0.231873229951	0.22792	.	.	.	.	.	.	.	.	.	.	-0.0542709	0.43797	T	0.113889	0.77829	D	0.324549427594134	0.26005	T	0.854215	0.54045	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.635	0.70300	P	.	.	4.481926	0.69940	25.4	0.99855371026335726	0.93458	0.87903	0.47606	D	AEFHI	0.745749	0.68833	D	0.592366831862804	0.72698	5.846747	0.58492540059559	0.73857	6.039854	0.999868098318507	0.44398	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.5	5.5	0.81386	4.137000	0.57773	11.252000	0.90779	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	1.0:0.0:0.0:0.0	13.130	0.58795	894	0.26265	Spermatogenesis-associated protein 6, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1797.98	35	chr9	4635379	.	A	G	1797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.295;DP=906;ExcessHet=0.0000;FS=0.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=-1.190e+00;SOR=0.741	GT:AD:DP:GQ:PL	0/1:101,74:175:99:1812,0,2573	20	0	1	0
chr9	13206036	13206036	C	T	exonic	MPDZ	.	nonsynonymous SNV	MPDZ:NM_001261406:exon11:c.G1354A:p.G452R	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	1.0	D	0.001	D	1.000	D	2.51	M	0.76	T	-0.451	T	0.347	T	0.789	4.217	21.9	6.17	2.941	5.801	19.651	0.446	0.0222801088254	.	.	8.518e-06	0	0	0	0	1.541e-05	0	0	6.5e-06	1	154602	rs749740776	1.369e-06	1.368e-06	0	2.752e-06	0.0003	2.3e-07	9e-08	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.56456	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000516	0.43753	D	0.000000	0.999999	0.58761	D	2.75	0.80375	M	0.76	0.49919	T	-7.05	0.93856	D	0.669	0.72746	-0.4511	0.70364	T	0.347	0.71186	T	10	0.80933845	0.80235	D	0.02228	0.45152	T	0.446	0.74797	0.577	0.70217	0.6507085132	0.64780	0.6993112114150418	0.69872	.	.	0.641533851624	0.58782	T	0.140825	0.47556	T	0.12792	0.67158	D	-0.0540281	0.66747	D	0.848120342373097	0.50004	D	0.956938	0.85427	D	0.40625045	0.61163	0.47328448	0.69469	0.40625045	0.61164	0.47328448	0.69469	-11.878	0.84251	D	.	.	0.378	0.66325	A	.;.;.;.;.;.	.;.;.;.;.;.	4.314025	0.65970	24.9	0.99944052586096943	0.99868	0.91140	0.52938	D	AEFDBHCIJ	0.713789	0.66647	D	0.800178952187788	0.86116	8.783542	0.76222932149692	0.87066	9.096122	0.999999999788585	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	5.726000	0.68163	7.711000	0.66806	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0:1.0:0.0:0.0	19.651	0.95800	614	0.66605	PDZ domain|PDZ domain|PDZ domain;.;.;.;.;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2356.98	35	chr9	13206036	.	C	T	2356.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.350e-01;DP=871;ExcessHet=0.0000;FS=1.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=-4.700e-01;SOR=0.851	GT:AD:DP:GQ:PL	0/1:72,88:160:99:2371,0,1885	20	0	1	0
chr9	17394996	17394996	C	T	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon15:c.C2542T:p.H848Y	.	.	426	1078	15	3	0	21	0.0096463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.991	D	0.73	P	.	.	1.000	D	1.95	M	2.47	T	-1.120	T	0.066	T	0.436	3.246	16.89	5.93	2.803	4.795	19.942	0.097	.	0.0057	0.00359425	0.0058	0.0004	0.0038	0	0.0127	0.0079	0.0089	0.0024	0.0058279	901	154602	rs144166918	0.0068	0.0068	0.0069	0.0066	0.0071	0.0067	0.0066	0.0069	0.0069	0.0009	0.0051	0.0203	2.519e-05	0.0116	0.0061	0.0071	0.0059	0.0031	0.0052	0.0052	0.0050	0.0054	0.0069	0.0049	0.0048	0.0059	0.0055	0.0007	0	0.0069	0.0202	0	0.0144	0.0136	0.0062	0.0038	0.0017	0.014	0.53172	D	0.044	0.49663	D	0.264	0.31602	B	0.055	0.25995	B	.	.	.	.	0.95295	0.37808	D	2.43	0.70455	M	2.21	0.18414	T	-1.33	0.33197	N	0.436	0.47487	-1.1197	0.02350	T	0.066	0.27364	T	9	0.005052775	0.00109	T	.	.	.	0.097	0.27909	.	.	0.0611884634855	0.05136	0.08164205980192901	0.08099	.	.	0.426689594984	0.28755	T	.	.	.	-0.404872	0.02151	T	-0.348657	0.39359	T	0.0438886258736104	0.04401	T	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-5.253	0.39476	T	.	.	0.175	0.38281	B	.	.	4.184124	0.63012	24.5	0.99773894908934191	0.86174	0.93785	0.59184	D	AEFBI	0.523727	0.54721	D	0.423311050390687	0.62706	4.491064	0.530791572137921	0.70071	5.451773	0.99999999363096	0.74766	0.730579	0.87903	0	0.573888	0.26702	0	0.749866	0.98131	0	0.635551	0.53088	0	.	.	5.93	5.93	0.95888	6.601000	0.74015	7.731000	0.67736	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.942	0.97166	651	0.62880	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1090.98	42	chr9	17394996	.	C	T	1090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.271e+00;DP=1133;ExcessHet=0.0000;FS=5.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=-1.181e+00;SOR=0.288	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,46:95:99:0|1:17394996_C_T:1105,0,1919:17394996	20	0	1	0
chr9	20414378	20414378	A	0	exonic	MLLT3	.	.	.	.	.	1	184	35	2	4	43	0.0958231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3362.48	34	chr9	20414378	.	A	G,*	3362.48	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=1.71;DP=856;ExcessHet=1.7912;FS=5.302;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=0.563;SOR=0.449	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,35,0:57:99:0|1:20414378_A_G:1018,0,534,1084,639,1723:20414378	15	0	5	0
chr9	32425889	32425889	A	G	exonic	ACO1	.	nonsynonymous SNV	ACO1:NM_002197:exon11:c.A1240G:p.T414A	.	.	444	1076	2	0	0	2	0.000928505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.0	B	0.0	B	0.001	D	0.747	D	1.04	L	1.03	T	-1.002	T	0.074	T	0.254	0.711	7.790	4.57	1.072	3.773	12.237	0.064	0.00890395598463	.	0.000199681	1.652e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs529985830	8.21e-06	8.209e-06	2.723e-06	1.375e-05	0.0001	4.38e-06	3.46e-06	7.123e-05	5.481e-05	0	0	0	0	0	0	0	1.656e-05	0.0001	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.426	0.09658	T	0.718	0.05380	T	0.0	0.02946	B	0.0	0.01387	B	0.000626	0.42799	D	0.292237	0.686723	0.33884	D	0.11	0.08516	N	1.03	0.40469	T	-0.58	0.17417	N	0.169	0.17966	-1.0023	0.29255	T	0.074	0.29865	T	10	0.049839377	0.04629	T	0.008904	0.23463	T	0.064	0.18567	0.313	0.28774	0.414798848334	0.41096	0.39733546457534963	0.39648	0.222575520605	0.24794	0.336585044861	0.15926	T	0.196482	0.55288	T	-0.32126	0.06795	T	-0.49659	0.22701	T	0.0870414301753044	0.10863	T	0.475952	0.14261	T	0.121985	0.28674	0.06361278	0.12626	0.121985	0.28674	0.06361278	0.12626	-5.673	0.43452	T	.	.	0.071	0.04159	B	.;.;.	.;.;.	1.678555	0.21391	15.18	0.90459982309059428	0.19718	0.73052	0.35739	D	AEFBCI	0.588030	0.58546	D	-0.551945330775158	0.20423	1.076493	-0.440036183421739	0.23832	1.301768	0.999999077689236	0.74766	0.732398	0.92422	0	0.659464	0.62310	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.73	4.57	0.55860	2.569000	0.45637	3.574000	0.39134	0.756000	0.94297	0.048000	0.21332	0.958000	0.29226	0.179000	0.21265	0.8574:0.1426:0.0:0.0	12.237	0.53833	716	0.55970	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha domain;Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha domain;Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1811.98	34	chr9	32425889	.	A	G	1811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.75;DP=863;ExcessHet=0.0000;FS=1.198;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=-1.541e+00;SOR=0.805	GT:AD:DP:GQ:PL	0/1:104,75:179:99:1826,0,2388	20	0	1	0
chr9	32542058	32542058	T	C	exonic	TOPORS	.	nonsynonymous SNV	TOPORS:NM_001195622:exon2:c.A2272G:p.S758G	Retinitis pigmentosa 31	.	0	1521	1	0	0	1	0.000328623	.	.	318364	not_provided|Retinitis_pigmentosa	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.0	B	0.157	N	1.000	N	0	N	2.46	T	-0.964	T	0.018	T	0.032	-0.983	0.287	-1.38	-0.138	0.218	11.457	0.059	0.00217526170089	7.7e-05	.	0.0003	0	8.639e-05	0	0	7.493e-05	0	0.0020	0.0002523	39	154602	rs377384599	0.0002	0.0002	9.937e-05	0.0002	0.0020	0.0001	0.0001	0.0018	0.0017	0	0	0	0	0	0.0017	3.687e-05	0.0002	0.0020	3.942e-05	3.94e-05	2.569e-05	5.379e-05	0.0006	1.715e-05	1.129e-05	0.0002	8.985e-05	0	0	0	0	0	0	0	4.409e-05	0	0.0006	0.548	0.06627	T	0.385	0.15746	T	0.0	0.02946	B	0.0	0.01387	B	0.157107	0.17779	N	0.551636	1	0.08975	N	0.77	0.19370	N	2.46	0.14907	T	-0.99	0.26200	N	0.035	0.03613	-0.9635	0.38507	T	0.018	0.07612	T	10	0.004296005	0.00086	T	0.002175	0.04071	T	0.059	0.16972	.	.	0.260580752073	0.25663	0.09654610612570591	0.09586	0.287450904415	0.31146	0.305004000664	0.11151	T	0.014786	0.12522	T	-0.70714	0.00033	T	-0.795318	0.02022	T	0.00912404616742828	0.00115	T	0.59564	0.22108	T	0.030702865	0.02780	0.03702224	0.03269	0.032404903	0.03258	0.039365035	0.04013	-4.319	0.28512	T	.	.	0.063	0.03128	B	.;.	.;.	0.685400	0.10542	7.250	0.7184062496298893	0.09766	0.06746	0.12768	N	AEFGBI	0.065414	0.12758	N	-1.25065927715832	0.04291	0.1933799	-1.20435471887136	0.05839	0.2793853	0.999919722731924	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.61	-1.38	0.08554	0.397000	0.20608	0.041000	0.13868	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.904000	0.43992	0.0:0.4195:0.0:0.5805	11.457	0.49434	482	0.77288	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2649.98	37	chr9	32542058	.	T	C	2649.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.784e+00;DP=1324;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=-6.960e-01;SOR=0.720	GT:AD:DP:GQ:PL	0/1:95,111:206:99:2664,0,2557	20	0	1	0
chr9	35906589	35906589	-	CCACCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCACCA:p.H105_P106insHHH,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,48,0,0,0,0:48:99:.:.:2103,145,0,2103,145,2103,2103,145,2103,2103,2103,145,2103,2103,2103,2103,145,2103,2103,2103,2103	13	1	1	0
chr9	35906589	35906589	-	CCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCA:p.H105_P106insHH,	.	.	713	702	43	17	47	124	0.0519919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,48,0,0,0,0:48:99:.:.:2103,145,0,2103,145,2103,2103,145,2103,2103,2103,145,2103,2103,2103,2103,145,2103,2103,2103,2103	13	1	1	0
chr9	35906589	35906589	-	CCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA:p.H107_R108insHHPHHTPHHLHHHHHHPH,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,48,0,0,0,0:48:99:.:.:2103,145,0,2103,145,2103,2103,145,2103,2103,2103,145,2103,2103,2103,2103,145,2103,2103,2103,2103	13	1	1	0
chr9	35906589	35906589	-	CCACCACCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCACCACCA:p.H105_P106insHHHH,	.	.	713	702	43	17	47	124	0.0519919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,48,0,0,0,0:48:99:.:.:2103,145,0,2103,145,2103,2103,145,2103,2103,2103,145,2103,2103,2103,2103,145,2103,2103,2103,2103	13	1	1	0
chr9	41960805	41960805	A	-	exonic	CNTNAP3B	.	frameshift deletion	CNTNAP3B:NM_001201380:exon12:c.1844delT:p.L615Rfs*10,	.	.	427	1004	91	0	0	91	0.043354	.	.	389864	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs375643696	0.0047	0.0087	0.0036	0.0058	0.0387	0.0046	0.0045	0.0375	0.0371	0.0006	0.0020	0.0229	0.0131	0.0002	0.0169	0.0018	0.0062	0.0387	0.0035	0.0064	0.0027	0.0043	0.0425	0.0032	0.0031	0.0376	0.0357	0.0004	0	0.0024	0.0286	0.0057	0.0002	0.0034	0.0021	0.0043	0.0425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	569.64	34	chr9	41960804	.	CA	C	569.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.180e-01;DP=947;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0764;MLEAC=3;MLEAF=0.071;MQ=34.45;MQRankSum=-1.302e+00;QD=2.02;ReadPosRankSum=-1.400e-01;SOR=0.705	GT:AD:DP:GQ:PL	0/1:75,19:94:99:456,0,2631	18	0	3	0
chr9	74752287	74752287	T	C	exonic	TRPM6	.	nonsynonymous SNV	TRPM6:NM_001177310:exon29:c.A4973G:p.Q1658R	Hypomagnesemia 1, intestinal, Autosomal recessive	.	103	1407	12	0	0	12	0.00424628	.	.	215404	not_specified|not_provided|Intestinal_hypomagnesemia_1	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011176,MedGen:C1865974,OMIM:602014,Orphanet:30924	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.981	D	0.73	P	0.055	N	1.000	D	2.045	M	0.65	T	-0.768	T	0.173	T	0.055	3.578	18.23	3.53	0.488	1.435	10.050	0.112	.	0.0075	0.00279553	0.0077	0.0017	0.0092	0	0.0049	0.0118	0.0090	0.0027	0.005899	912	154602	rs55679040	0.0082	0.0084	0.0084	0.0081	0.0203	0.0081	0.0081	0.0173	0.0162	0.0016	0.0071	0.0038	2.532e-05	0.0038	0.0203	0.0096	0.0075	0.0019	0.0063	0.0063	0.0068	0.0058	0.0106	0.0060	0.0058	0.0100	0.0097	0.0021	0.0011	0.0061	0.0023	0	0.0026	0.0034	0.0106	0.0061	0.0017	0.003	0.68238	D	0.093	0.40110	T	0.634	0.40281	P	0.215	0.37512	B	0.054606	0.22711	N	0.472549	1	0.81001	D	2.615	0.76484	M	0.65	0.52642	T	-0.73	0.20576	N	0.156	0.16168	-0.7677	0.56984	T	0.173	0.51579	T	10	0.0042348206	0.00085	T	.	.	.	0.112	0.31546	.	.	0.339940258815	0.33601	0.2812455614234545	0.28037	0.272700917189	0.29773	0.276541292667	0.07015	T	0.149518	0.48855	T	-0.548594	0.00297	T	-0.546514	0.17662	T	0.0285568991036483	0.01769	T	0.618838	0.23746	T	0.09255063	0.21715	0.14296204	0.33993	0.10007534	0.23626	0.14904581	0.35207	-3.335	0.14193	T	.	.	0.076	0.08368	B	.;.;.	.;.;.	1.537769	0.19722	14.41	0.99786898787720635	0.87308	0.77272	0.37974	D	AEFI	0.148552	0.27246	N	0.108094422850283	0.46841	2.918315	0.133487078150113	0.46271	2.875956	0.98417431804812	0.30676	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.84	3.53	0.39533	1.432000	0.34545	-0.498000	0.08819	0.665000	0.62972	0.940000	0.32642	0.000000	0.08366	0.983000	0.59808	0.0:0.1353:0.0:0.8647	10.050	0.41381	838	0.37812	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1396.98	34	chr9	74752287	.	T	C	1396.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.639;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=1.67;SOR=0.636	GT:AD:DP:GQ:PL	0/1:66,60:126:99:1411,0,1542	20	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.935	H	-3.73	D	1.004	D	0.941	D	0.414	2.778	15.25	2.15	0.116	2.094	10.600	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	16167.74	344	chr9	92080918	.	G	C	16167.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.447e+00;DP=7903;ExcessHet=54.0936;FS=420.103;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.24;ReadPosRankSum=1.19;SOR=16.175	GT:AD:DP:GQ:PL	0/1:245,117:396:99:248,0,4194	0	0	21	0
chr9	92474746	92474748	TCA	-	exonic	ASPN	.	nonframeshift deletion	ASPN:NM_001193335:exon2:c.150_152del:p.D50del	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/1:0,82,0,0,0,0:82:99:3411,249,0,3411,249,3411,3411,249,3411,3411,3411,249,3411,3411,3411,3411,249,3411,3411,3411,3411	1	2	3	0
chr9	92474748	92474748	-	TCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGA:p.D50_E51insD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/1:0,82,0,0,0,0:82:99:3411,249,0,3411,249,3411,3411,249,3411,3411,3411,249,3411,3411,3411,3411,249,3411,3411,3411,3411	1	2	3	0
chr9	92474748	92474748	-	TCATCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGATGATGA:p.D50_E51insDDD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/1:0,82,0,0,0,0:82:99:3411,249,0,3411,249,3411,3411,249,3411,3411,3411,249,3411,3411,3411,3411,249,3411,3411,3411,3411	1	2	3	0
chr9	92474748	92474748	-	TCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGATGA:p.D50_E51insDD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/1:0,82,0,0,0,0:82:99:3411,249,0,3411,249,3411,3411,249,3411,3411,3411,249,3411,3411,3411,3411,249,3411,3411,3411,3411	1	2	3	0
chr9	97482924	97482924	C	T	exonic	TDRD7	.	nonsynonymous SNV	TDRD7:NM_001302884:exon14:c.C2266T:p.R756C	Cataract 36	.	0	1501	21	0	0	21	0.00694674	.	.	319601	Cataract_36|TDRD7-related_disorder	MONDO:MONDO:0013484,MedGen:C3151304,OMIM:613887|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.997	D	0.000	D	1.000	D	1.39	L	2.57	T	-1.108	T	0.090	T	0.874	3.132	16.47	4.88	2.937	2.934	15.536	0.215	0.0165181292983	0.0004	0.000798722	0.0009	0.0003	0.0010	0	0.0005	0.0011	0.0022	0.0005	0.0008409	130	154602	rs140697341	0.0006	0.0006	0.0006	0.0007	0.0028	0.0006	0.0006	0.0017	0.0014	0.0007	0.0010	0.0072	0	0.0010	0.0028	0.0004	0.0011	0.0005	0.0009	0.0009	0.0006	0.0011	0.0015	0.0007	0.0007	0.0010	0.0009	0.0002	0	0.0015	0.0075	0.0002	0.0012	0.0034	0.0007	0.0019	0.0006	0.094	0.31383	T	0.069	0.43913	T	1.0	0.90584	D	0.997	0.86255	D	0.000224	0.47286	D	0.252104	0.999998	0.58761	D	2.015	0.55033	M	2.57	0.13552	T	-2.52	0.54702	D	0.418	0.45803	-1.1083	0.03219	T	0.090	0.34628	T	10	0.008106023	0.00184	T	0.016518	0.37815	T	0.215	0.50805	.	.	0.464870050199	0.46114	0.6080530998970395	0.60737	0.626776388847	0.56798	0.314393341541	0.12572	T	0.282167	0.65490	T	-0.171513	0.25005	T	-0.0695836	0.65656	T	0.0589252446298112	0.06997	T	0.840516	0.51562	T	0.11106341	0.26247	0.081332795	0.18476	0.11106341	0.26247	0.081332795	0.18475	-2.811	0.08285	T	.	.	0.114	0.22644	B	.	.	4.788568	0.77693	26.7	0.99647869552333002	0.77068	0.94655	0.61878	D	AEFBI	0.557535	0.56712	D	0.41059120562521	0.62004	4.409478	0.487206890863386	0.67140	5.044496	0.197376636802961	0.18078	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.84	4.88	0.63131	2.993000	0.49114	3.995000	0.41022	-0.171000	0.11205	0.992000	0.37556	0.999000	0.35428	0.986000	0.61781	0.0:0.8617:0.1383:0.0	15.536	0.75742	695	0.58372	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2695.98	33	chr9	97482924	.	C	T	2695.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=939;ExcessHet=0.0000;FS=0.970;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=0.187;SOR=0.787	GT:AD:DP:GQ:PL	0/1:144,112:256:99:2710,0,3430	20	0	1	0
chr9	97675578	97675578	C	T	exonic	XPA	.	nonsynonymous SNV	XPA:NM_000380:exon6:c.G683A:p.R228Q	Xeroderma pigmentosum, group A, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	139202	Xeroderma_pigmentosum|Xeroderma_pigmentosum_group_A|not_specified|not_provided	MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910|MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700,Orphanet:910|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.999	D	0.749	P	0.000	D	1.000	D	1.21	L	0.19	T	-0.836	T	0.237	T	0.69	3.458	17.72	5.32	2.941	5.080	18.314	0.164	0.0091672645802	0.0002	.	0.0002	0	0.0005	0	0.0002	0.0002	0	0.0004	0.000194	30	154602	rs1805160	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	0	0.0004	0	0	1.873e-05	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	9.251e-05	0.0002	0.0001	0.0001	0	0.0004	0	0	0	0	0.0002	0.0005	0	0.324	0.13392	T	0.414	0.14369	T	0.999	0.77913	D	0.749	0.56004	P	0.000041	0.55875	D	0.120373	0.999976	0.53665	D	1.445	0.36358	L	0.19	0.60236	T	-0.34	0.12661	N	0.571	0.59393	-0.8361	0.52904	T	0.237	0.60415	T	10	0.30437988	0.47963	T	0.009167	0.24107	T	0.164	0.42212	.	.	0.778699477751	0.77666	0.5068949228481926	0.50611	0.348634746703	0.36727	0.455722332001	0.32725	T	0.13331	0.46391	T	-0.142294	0.29524	T	-0.114211	0.62274	T	0.0832293260933461	0.10395	T	0.968903	0.88767	D	0.2574539	0.48789	0.16138756	0.37542	0.2574539	0.48789	0.16138756	0.37541	-7.794	0.59658	D	0.27995976538383904	0.37509	0.155	0.34205	B	.	.	4.321340	0.66145	24.9	0.99627310574728833	0.75837	0.93529	0.58465	D	AEFBCI	0.637600	0.61632	D	0.545348310304314	0.69798	5.408643	0.59074979274206	0.74272	6.10945	0.999999999999726	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.575934	0.27490	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	5.303000	0.65530	7.657000	0.64017	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.314	0.90153	672	0.60758	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1385.98	35	chr9	97675578	.	C	T	1385.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.700e-01;DP=859;ExcessHet=0.0000;FS=0.626;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.43;ReadPosRankSum=2.24;SOR=0.613	GT:AD:DP:GQ:PL	0/1:84,63:147:99:1400,0,1982	20	0	1	0
chr9	97854424	97854424	-	GCC	exonic	FOXE1	.	nonframeshift insertion	FOXE1:NM_004473:exon1:c.510_511insGCC:p.A179_I180insA,	Bamforth-Lazarus syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755194188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	10238.96	16	chr9	97854418	.	AGCCGCC	AGCCGCCGCC,A	10238.96	.	AC=2,29;AF=0.048,0.690;AN=42;BaseQRankSum=0.545;DP=637;ExcessHet=0.4237;FS=0.947;InbreedingCoeff=0.1378;MLEAC=2,29;MLEAF=0.048,0.690;MQ=60.00;MQRankSum=0.00;QD=30.56;ReadPosRankSum=1.13;SOR=0.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:8,0,9:17:99:.:.:355,379,715,0,336,308	2	0	1	0
chr9	99218703	99218703	C	T	exonic	ALG2	.	stopgain	ALG2:NM_033087:exon2:c.G482A:p.W161X,	Myasthenic syndrome, congenital, 14, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	5.025	29.7	5.16	2.565	7.445	19.019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.828	0.82358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.458503	0.97591	37	0.99695024936768817	0.80180	0.97647	0.76137	D	AEFBCI	0.261998	0.37983	N	0.920796990238025	0.92741	11.601	0.789631596824565	0.89062	9.823793	0.999999999999992	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.16	5.16	0.70563	7.503000	0.80474	7.668000	0.64620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:1.0:0.0:0.0	19.019	0.92882	467	0.78285	Glycosyltransferase subfamily 4-like, N-terminal domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	332.5	65	chr9	99218703	.	C	T	332.5	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-3.994e+00;DP=2231;ExcessHet=1.1607;FS=161.960;InbreedingCoeff=-0.1551;MLEAC=5;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=0.55;ReadPosRankSum=1.94;SOR=11.886	GT:AD:DP:GQ:PL	0/1:102,33:135:99:110,0,2102	15	0	5	1
chr9	113298067	113298067	A	C	exonic	RNF183	.	nonsynonymous SNV	RNF183:NM_001371234:exon2:c.T118G:p.C40G	.	.	431	1066	25	0	0	25	0.0115902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	4.25	H	-6.45	D	0.953	D	0.993	D	0.958	4.182	21.7	5.26	2.212	7.101	13.189	0.838	0.618729951526	0.0003	0.000599042	0.0005	0	0.0002	0	0	0.0006	0.0011	0.0012	0.0004916	76	154602	rs180833376	0.0004	0.0004	0.0004	0.0005	0.0066	0.0004	0.0004	0.0049	0.0044	8.961e-05	0.0004	0.0001	0	3.745e-05	0.0066	0.0003	0.0008	0.0014	0.0005	0.0005	0.0006	0.0004	0.0010	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0008	0	0	0	0.0034	0.0007	0.0009	0.0010	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	4.79	0.99631	H	-6.45	0.99697	D	-12.0	0.99623	D	0.848	0.86618	0.953	0.96441	D	0.993	0.99826	D	10	0.6715897	0.70745	D	0.61873	0.96693	D	0.838	0.94914	.	.	0.948954076528	0.94841	0.880141901145841	0.87982	1.27124136584	0.82271	0.697565674782	0.66793	T	0.264316	0.63608	T	0.268087	0.80269	D	0.56676	0.96180	D	0.809352993965149	0.47001	D	0.70043	0.31009	T	0.9356994	0.94811	0.9033299	0.95212	0.9356994	0.94811	0.9033299	0.95213	-10.825	0.78689	D	.	.	0.903	0.82987	P	.;.;.;.	.;.;.;.	4.774489	0.77316	26.7	0.98437898938686685	0.41475	0.97775	0.77043	D	AEFBI	0.941918	0.94582	D	0.984595018962136	0.95251	13.44558	0.871806562731723	0.94224	12.59608	0.99999999865519	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.26	5.26	0.73479	7.956000	0.87398	8.942000	0.78426	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.919000	0.45453	1.0:0.0:0.0:0.0	13.189	0.59123	819	0.41190	Zinc finger, RING-type|Zinc finger, RING-type, conserved site|Zinc finger, RING-type|Zinc finger, RING-type;Zinc finger, RING-type|Zinc finger, RING-type, conserved site|Zinc finger, RING-type|Zinc finger, RING-type;Zinc finger, RING-type|Zinc finger, RING-type, conserved site|Zinc finger, RING-type|Zinc finger, RING-type;Zinc finger, RING-type|Zinc finger, RING-type, conserved site|Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1463.98	37	chr9	113298067	.	A	C	1463.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.59;DP=961;ExcessHet=0.0000;FS=0.745;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=-8.460e-01;SOR=0.825	GT:AD:DP:GQ:PL	0/1:47,55:102:99:1478,0,1053	20	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A,	.	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.002	B	0.012	B	0.119	N	1.000	N	1.045	L	8.47	T	-0.981	T	0.000	T	0.241	-0.246	2.815	3.09	0.623	0.717	7.537	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4286	10749.2	301	chr9	122724732	.	T	C	10749.2	.	AC=12;AF=0.429;AN=28;BaseQRankSum=8.60;DP=6952;ExcessHet=9.6308;FS=27.314;InbreedingCoeff=-0.5849;MLEAC=15;MLEAF=0.536;MQ=58.33;MQRankSum=-1.529e+01;QD=2.73;ReadPosRankSum=-7.300e+00;SOR=4.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:326,55:381:99:0|1:122724732_T_C:1170,0,13313:122724732	2	0	12	7
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A,	.	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.003	B	0.363	N	1.000	N	-0.46	N	0.93	T	-1.008	T	0.042	T	0.097	-1.802	0.009	-7.85	-1.692	-2.805	8.760	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3529	6434.01	290	chr9	122724738	.	T	C	6434.01	.	AC=12;AF=0.353;AN=34;BaseQRankSum=0.102;DP=5824;ExcessHet=9.6308;FS=29.363;InbreedingCoeff=-0.5013;MLEAC=14;MLEAF=0.412;MQ=58.45;MQRankSum=-1.685e+01;QD=1.74;ReadPosRankSum=-6.376e+00;SOR=6.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:312,38:350:99:0|1:122724732_T_C:656,0,12983:122724732	5	0	12	4
chr9	122800426	122800426	A	G	exonic	OR1K1	.	nonsynonymous SNV	OR1K1:NM_080859:exon1:c.A304G:p.M102V,	.	.	411	1106	5	0	0	5	0.0022553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.243	B	0.222	B	0.007	U	1.000	N	0.96	L	7.67	T	-0.936	T	0.001	T	0.269	1.670	11.54	4.61	1.931	0.228	5.450	0.095	0.00364082266133	0.0006	0.000798722	0.0006	0.0005	0.0015	0	0	0.0007	0.0022	6.056e-05	0.0005498	85	154602	rs144618703	0.0005	0.0005	0.0005	0.0005	0.0078	0.0005	0.0005	0.0060	0.0054	0.0002	0.0015	0.0009	0	1.906e-05	0.0078	0.0005	0.0010	0.0002	0.0005	0.0005	0.0005	0.0005	0.0011	0.0004	0.0004	0.0007	0.0006	0.0003	0	0.0011	0.0012	0	0	0.0034	0.0006	0.0014	0.0002	0.05	0.39575	D	0.147	0.32783	T	0.243	0.30970	B	0.222	0.37884	B	0.006756	0.31824	U	0.142257	0.999931	0.19363	N	1.27	0.32069	L	7.67	0.00348	T	-2.78	0.58896	D	0.153	0.15749	-0.9361	0.43226	T	0.001	0.00287	T	10	0.01816994	0.00393	T	0.003641	0.08371	T	0.095	0.27398	.	.	0.381409048467	0.37754	0.1745168632238548	0.17370	0.418334703095	0.42424	0.247112795711	0.03470	T	0.122601	0.44639	T	-0.547711	0.00301	T	-0.594903	0.13244	T	0.0303036224923117	0.02036	T	0.774523	0.40643	T	0.31384557	0.54117	0.2927331	0.55301	0.31384557	0.54117	0.2927331	0.55300	-4.659	0.32904	T	.	.	0.134	0.29004	B	.	.	2.103210	0.26757	17.23	0.97301890906478028	0.33285	0.10572	0.16041	N	AEFGBI	0.082886	0.16788	N	-0.254634916400253	0.30920	1.728619	-0.174469571908187	0.32479	1.848186	0.999828703922214	0.43622	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.61	4.61	0.56724	-0.175000	0.09816	-0.363000	0.09661	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.417000	0.27162	0.6488:0.1791:0.0:0.1722	5.450	0.15859	916	0.20744	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	7683.08	35	chr9	122800426	.	A	G	7683.08	.	AC=2;AF=0.048;AN=42;DP=1026;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.36;SOR=0.769	GT:AD:DP:GQ:PL	1/1:0,245:245:99:7711,733,0	20	1	0	0
chr9	125233778	125233778	C	T	exonic	RABEPK	.	nonsynonymous SNV	RABEPK:NM_001174153:exon8:c.C764T:p.T255M	.	.	.	.	.	.	.	.	.	.	.	2372335	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.23	T	0.02	B	0.008	B	0.360	N	1.000	N	0.41	N	1.65	T	-1.063	T	0.047	T	0.227	0.632	7.399	-8.62	-1.671	-2.284	2.544	0.017	0.00523965873675	.	.	4.942e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs759767703	3.147e-05	3.147e-05	2.723e-05	3.576e-05	0.0017	2.412e-05	2.158e-05	0.0009	0.0007	0	0	0	2.519e-05	1.872e-05	0.0017	8.095e-06	1.656e-05	0.0003	1.315e-05	1.313e-05	1.285e-05	1.346e-05	0.0002	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	0	0	0.0002	0.29	0.17069	T	0.133	0.34596	T	0.019	0.18235	B	0.002	0.13708	B	0.359639	0.04296	N	1.359040	1	0.08975	N	0.69	0.16971	N	1.65	0.43672	T	-0.73	0.20791	N	0.076	0.09207	-1.0632	0.10974	T	0.047	0.20235	T	10	0.024407148	0.00670	T	0.00524	0.13371	T	0.017	0.02790	0.392	0.41606	0.17948927462	0.17512	0.5009189962138744	0.50013	0.0311836038897	0.03231	0.265711128712	0.05590	T	0.003012	0.02412	T	-0.470412	0.00845	T	-0.613167	0.11729	T	0.0318520035249476	0.02282	T	0.562444	0.19755	T	0.011475162	0.00018	0.018868558	0.00069	0.011475162	0.00018	0.018868558	0.00069	-6.162	0.47615	T	.	.	0.071	0.04316	B	.;.;.	.;.;.	-0.221806	0.02981	0.446	0.83800268727343097	0.14927	0.05100	0.10901	N	ALL	0.090435	0.18326	N	-1.64901917663747	0.01039	0.04507976	-1.70520053924264	0.01115	0.05009571	1.0	0.98316	0.730579	0.87903	0	0.697927	0.68747	0	0.643519	0.47002	0	0.648885	0.59868	0	.	.	5.44	-8.62	0.00765	-2.377000	0.01148	-2.116000	0.04189	-0.917000	0.02218	0.000000	0.06391	0.000000	0.08366	0.837000	0.39485	0.0945:0.2169:0.2824:0.4062	2.544	0.04445	851	0.35303	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	4012.08	34	chr9	125233778	.	C	T	4012.08	.	AC=2;AF=0.048;AN=42;DP=842;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.10;SOR=0.998	GT:AD:DP:GQ:PL	1/1:0,125:125:99:4040,375,0	20	1	0	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.58	P	0.16	B	0.012	N	1.000	D	1.87	L	0.85	T	-1.078	T	0.089	T	0.151	2.394	13.96	2.23	0.458	0.075	3.228	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	2743.82	57	chr9	127707148	.	G	C,A	2743.82	.	AC=11,6;AF=0.275,0.150;AN=40;BaseQRankSum=-9.810e-01;DP=1576;ExcessHet=25.1139;FS=227.043;InbreedingCoeff=-0.7001;MLEAC=11,6;MLEAF=0.275,0.150;MQ=60.00;MQRankSum=0.00;QD=2.28;ReadPosRankSum=0.651;SOR=11.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:49,0,9:58:83:0|1:127707148_G_A:83,228,1575,0,1347,1320:127707148	3	0	11	1
chr9	127707150	127707150	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T119C:p.F40S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	1.0	D	0.993	D	0.000	D	1.000	D	2.175	M	1.1	T	-0.776	T	0.227	T	0.925	4.505	24.2	5.46	2.075	5.688	13.490	0.321	0.0295012344328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.025e-05	0.0013	2.604e-05	1.446e-05	3.126e-05	1.404e-05	1.209e-05	1.739e-05	1.477e-05	3.126e-05	0	0	0	0	0	2.5e-05	0	1.182e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.053	0.47336	T	1.0	0.90584	D	0.993	0.81110	D	0.000003	0.62929	D	0.105467	0.99989	0.50595	D	.	.	.	1.1	0.39050	T	-7.17	0.94145	D	0.892	0.90025	-0.7757	0.56542	T	0.227	0.59233	T	10	0.62868714	0.68391	D	0.029501	0.51995	D	0.321	0.64318	0.292	0.25400	0.617737460462	0.61464	0.8563961070607592	0.85602	1.09668489094	0.77603	.	.	.	0.333157	0.70304	T	0.256066	0.79166	D	0.130044	0.78896	D	0.995957314968109	0.88384	D	0.631737	0.24648	T	0.883188	0.89932	0.88241297	0.93731	0.883188	0.89933	0.88241297	0.93731	-12.272	0.88445	D	.	.	0.839	0.79209	P	.;.	.;.	4.916668	0.80938	27.4	0.99871547018832008	0.94902	0.88781	0.48875	D	AEFDGBCI	0.697108	0.65523	D	0.612068453635021	0.73938	6.048333	0.59676151836649	0.74706	6.182971	0.9999999998598	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	5.46	0.80021	5.665000	0.67722	5.919000	0.51137	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	13.490	0.60843	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1185.39	50	chr9	127707150	.	T	C	1185.39	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-2.872e+00;DP=1368;ExcessHet=4.7172;FS=144.390;InbreedingCoeff=-0.2762;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.85;ReadPosRankSum=0.908;SOR=10.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,9:58:83:0|1:127707148_G_A:83,0,1320:127707148	12	0	9	0
chr9	128160439	128160439	C	T	exonic	C9orf16	.	nonsynonymous SNV	C9orf16:NM_024112:exon1:c.C32T:p.P11L,	.	.	411	1105	6	0	0	6	0.00270758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.75	P	0.209	B	0.052	N	0.995	D	.	.	.	.	-0.892	T	0.126	T	0.229	3.898	19.82	4.44	2.212	3.418	14.226	0.090	.	.	0.00698882	0.0032	0	0	0	0	0	0	0.0507	0.0008085	125	154602	rs551654104	0.0008	0.0014	0.0006	0.0011	0.0294	0.0008	0.0008	0.0277	0.0270	0.0003	0	6.798e-05	3.744e-05	0	0.0004	4.081e-05	0.0017	0.0294	0.0011	0.0011	0.0005	0.0017	0.0313	0.0010	0.0009	0.0272	0.0257	9.736e-05	0	6.565e-05	0	0	0	0	8.88e-05	0.0024	0.0313	0.037	0.43085	D	0.038	0.51421	D	0.75	0.43260	P	0.209	0.37260	B	0.052170	0.22917	N	0.481200	0.995354	0.42654	D	.	.	.	.	.	.	-1.92	0.44657	N	0.171	0.18239	-0.8925	0.48713	T	0.126	0.43194	T	8	0.0040905476	0.00080	T	.	.	.	0.090	0.26093	.	.	0.60055981612	0.59737	0.2264859104552806	0.22563	0.325170258778	0.34672	.	.	.	0.098437	0.40225	T	-0.436981	0.01347	T	-0.376785	0.36099	T	0.184209523570935	0.19496	T	0.624238	0.24084	T	0.13479726	0.31306	0.24934435	0.50503	0.13479726	0.31306	0.24934435	0.50502	-4.377	0.29244	T	.	.	0.142	0.31253	B	.	.	3.245128	0.44319	21.9	0.99376308088762022	0.61671	0.94881	0.62654	D	ALL	0.507225	0.53762	D	0.211197533115964	0.51741	3.353018	0.270208120174619	0.53809	3.547983	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.44	4.44	0.53164	1.934000	0.39793	3.031000	0.36042	0.594000	0.32500	0.959000	0.33545	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	14.226	0.65400	422	0.81333	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	413.98	33	chr9	128160439	.	C	T	413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=751;ExcessHet=0.0000;FS=2.322;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.26;ReadPosRankSum=-1.320e-01;SOR=1.085	GT:AD:DP:GQ:PL	0/1:36,21:57:99:428,0,778	20	0	1	0
chr9	128580928	128580928	G	A	exonic	SPTAN1	.	nonsynonymous SNV	SPTAN1:NM_001130438:exon11:c.G1330A:p.V444I	Epileptic encephalopathy, early infantile, 5, Autosomal dominant	.	1	1511	10	0	0	10	0.00329815	.	.	142972	not_provided|Developmental_and_epileptic_encephalopathy,_5|Abnormal_brain_morphology|not_specified|Early_infantile_epileptic_encephalopathy_with_suppression_bursts|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0013277,MedGen:C3150731,OMIM:613477,Orphanet:3451|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085|MedGen:CN169374|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.26	T	0.001	B	0.002	B	0.010	N	1.000	N	-0.815	N	0.99	T	-1.051	T	0.007	T	0.057	1.695	11.63	-10.9	-2.476	-0.086	11.043	0.038	.	0.0006	0.0175719	0.0057	0.0012	0.0004	0.0319	0.0002	0.0005	0.0055	0.0214	0.0055562	859	154602	rs77358650	0.0032	0.0032	0.0027	0.0036	0.0535	0.0031	0.0030	0.0516	0.0508	0.0006	0.0003	0.0051	0.0535	0.0002	0.0022	0.0002	0.0049	0.0208	0.0028	0.0028	0.0024	0.0033	0.0404	0.0026	0.0025	0.0359	0.0342	0.0008	0	0.0005	0.0052	0.0404	0.0008	0	0.0002	0.0038	0.0282	0.662	0.04671	T	0.351	0.17696	T	0.001	0.07471	B	0.002	0.06944	B	0.009771	0.30209	N	0.393126	0.999996	0.08975	N	-0.895	0.01383	N	0.99	0.41750	T	-0.23	0.10656	N	0.516	0.70088	-1.0511	0.14092	T	0.007	0.02399	T	10	0.004676819	0.00098	T	.	.	.	0.038	0.09825	.	.	0.174091166621	0.17034	0.016972097653269753	0.01652	0.628620718257	0.56926	0.255690217018	0.04390	T	0.096274	0.39791	T	-0.707746	0.00033	T	-0.730225	0.04317	T	0.00338244659215461	0.00036	T	0.585341	0.23144	T	0.014711739	0.00105	0.018264022	0.00051	0.01714626	0.00249	0.018264022	0.00051	-4.642	0.32695	T	0.07938388736598764	0.03903	0.055	0.02829	B	.;.;.;.;.	.;.;.;.;.	-1.177373	0.00554	0.013	0.83355399288906362	0.14681	0.02970	0.07813	N	AEFDGBI	0.042089	0.06485	N	-1.75005579950235	0.00679	0.02930672	-1.78069534397863	0.00823	0.0367562	0.999999968848184	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.47	-10.9	0.00151	-0.089000	0.11146	-4.922000	0.01925	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.403000	0.26849	0.4153:0.0997:0.485:0.0	11.043	0.47057	0	0.99858	.;.;.;.;.	.	.	.	.	rs77358650	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	3856.98	39	chr9	128580928	.	G	A	3856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.587;DP=1053;ExcessHet=0.0000;FS=2.389;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=0.688;SOR=0.575	GT:AD:DP:GQ:PL	0/1:165,156:321:99:3871,0,4069	20	0	1	0
chr9	128836038	128836038	T	C	exonic	KYAT1	.	nonsynonymous SNV	KYAT1:NM_001122672:exon7:c.A574G:p.I192V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.017	B	0.105	B	0.000	D	1.000	D	1.235	L	-2.33	D	-0.338	T	0.494	T	0.648	3.290	17.05	5.36	2.026	2.967	14.525	0.437	0.128302899677	0.0002	.	4.999e-05	0.0005	0	0	0	0	0.0011	0	3.88e-05	6	154602	rs370634792	1.163e-05	1.163e-05	1.225e-05	1.1e-05	0.0003	7.09e-06	5.79e-06	0.0001	0.0001	0.0003	0	0	0	0	0	0	0.0001	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0004	7.581e-05	6.285e-05	0.0003	0.0002	0.0004	0	0	0	0	0	0	0	0	0	0.174	0.28772	T	0.33	0.22291	T	0.017	0.17573	B	0.105	0.31087	B	0.000000	0.84330	D	0.046438	1	0.81001	D	0.67	0.16346	N	-2.33	0.87910	D	-0.65	0.18877	N	0.288	0.37301	-0.3383	0.73893	T	0.494	0.80791	T	10	0.19997352	0.36026	T	0.128303	0.81022	D	0.437	0.74164	.	.	0.50055108712	0.49690	0.7614787562651666	0.76095	0.148562605958	0.16756	0.497126072645	0.38427	T	0.330464	0.70065	T	-0.0799199	0.39729	T	-0.0225745	0.68859	D	0.0658356098939552	0.08053	T	0.909109	0.67839	D	0.18263263	0.39492	0.079683244	0.17961	0.18263263	0.39491	0.079683244	0.17961	-5.261	0.43093	T	.	.	0.064	0.06433	B	.;.;.;.	.;.;.;.	1.982432	0.25182	16.67	0.99606987320393747	0.74575	0.95134	0.63563	D	AEFDGBI	0.496220	0.53126	N	-0.230295099911397	0.31896	1.793196	-0.03294312130297	0.38236	2.249895	0.999999999970619	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.491896	0.07777	0	.	.	5.36	5.36	0.76624	2.973000	0.48956	3.396000	0.38099	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.715000	0.34611	0.0:0.0:0.0:1.0	14.525	0.67464	851	0.35303	Aminotransferase, class I/classII;Aminotransferase, class I/classII;.;Aminotransferase, class I/classII	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	695.98	33	chr9	128836038	.	T	C	695.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.159e+00;DP=779;ExcessHet=0.0000;FS=1.697;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.82;ReadPosRankSum=1.64;SOR=0.508	GT:AD:DP:GQ:PL	0/1:66,36:102:99:710,0,1698	20	0	1	0
chr9	129814202	129814202	A	C	exonic	TOR1A	.	nonsynonymous SNV	TOR1A:NM_000113:exon5:c.T769G:p.L257V,	Dystonia-1, torsion, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	835568	Dystonic_disorder	Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.801	P	0.000	D	1.000	D	2.43	M	-0.25	T	-0.368	T	0.359	T	0.504	3.796	19.27	-0.28	0.024	0.592	9.957	0.419	0.0257534878776	0.0004	.	0.0001	0.0005	0	0.0010	0	0	0.0011	0	9.7e-05	15	154602	rs201368848	4.515e-05	4.515e-05	5.309e-05	3.713e-05	0.0007	3.641e-05	3.321e-05	0.0005	0.0004	0.0002	2.236e-05	0	0.0007	0	0	3.597e-06	0.0004	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0010	8.174e-05	6.729e-05	0.0004	0.0002	0.0003	0	0	0	0.0010	0	0	0	0	0	0.003	0.68238	D	0.068	0.44106	T	0.996	0.68779	D	0.801	0.58220	P	0.000001	0.84330	D	0.000000	0.999993	0.58761	D	2.87	0.83286	M	-0.25	0.67011	T	-2.1	0.47852	N	0.537	0.56489	-0.3676	0.73034	T	0.359	0.72132	T	10	0.21329498	0.37817	T	0.025753	0.48703	D	0.419	0.72855	.	.	0.698464051262	0.69585	0.7715020725544578	0.77100	1.13410484638	0.78728	0.683116972446	0.64716	T	0.422744	0.77372	T	-0.278193	0.10859	T	-0.212915	0.53416	T	0.743884801864624	0.42948	D	0.964804	0.86967	D	0.71881044	0.79095	0.41016468	0.65284	0.71881044	0.79096	0.41016468	0.65285	-6.413	0.49610	T	0.4716614336367092	0.55199	0.254	0.48918	B	.	.	2.985507	0.39842	21.0	0.99812174175989155	0.89620	0.93909	0.59543	D	AEFDBCI	0.627604	0.61000	D	0.232545816158031	0.52782	3.450285	0.128427276233857	0.46008	2.854099	0.999586706099917	0.40607	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.99	-0.28	0.12248	0.612000	0.23979	1.727000	0.28301	-0.552000	0.04894	0.999000	0.42656	0.999000	0.35428	0.988000	0.63387	0.4941:0.0:0.5059:0.0	9.957	0.40845	363	0.84772	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1225.98	33	chr9	129814202	.	A	C	1225.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.150e+00;DP=792;ExcessHet=0.0000;FS=1.950;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=0.633;SOR=0.980	GT:AD:DP:GQ:PL	0/1:42,51:93:99:1240,0,1143	20	0	1	0
chr9	130370966	130370966	C	T	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon46:c.C7072T:p.P2358S,	.	.	494	1013	13	2	0	17	0.0083211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0129792	.	.	.	.	.	.	.	.	0.0036499	95	26028	rs370781496	0.0011	0.0007	0.0009	0.0013	0.0492	0.0010	0.0010	0.0464	0.0453	6.333e-05	0	0	0.0003	0	0.0012	1.312e-05	0.0033	0.0492	0.0016	0.0016	0.0009	0.0023	0.0481	0.0014	0.0013	0.0430	0.0410	4.81e-05	0	0.0001	0	0.0002	0	0	2.94e-05	0.0005	0.0481	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.41557	.	.	.	.	.	.	.	0.0051893294	0.00113	T	.	.	.	.	.	.	.	0.136095386433	0.13204	0.2772386586098036	0.27636	.	.	.	.	.	0.096058	0.39747	T	0.0645965	0.60186	T	-0.144988	0.59685	T	.	.	.	0.680032	0.28847	T	0.14387108	0.33048	0.32031155	0.57986	0.14387108	0.33048	0.32031155	0.57986	-8.115	0.61852	D	.	.	0.144	0.31733	B	.	.	3.962076	0.58118	23.9	0.72218123646025889	0.09897	0.93829	0.59311	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999939674743	0.74766	0.090766	0.02384	0	0.063388	0.01293	0	0.129117	0.03641	0	0.062806	0.01542	0	0.94028	0.60161	4.78	4.78	0.60666	5.356000	0.65817	5.958000	0.51771	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.823000	0.38780	0.0:1.0:0.0:0.0	16.816	0.85597	512	0.75040	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1725.98	36	chr9	130370966	.	C	T	1725.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.057e+00;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=1.60;SOR=0.750	GT:AD:DP:GQ:PL	0/1:69,76:145:99:1740,0,1602	20	0	1	0
chr9	130422678	130422678	G	A	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon87:c.G13333A:p.G4445R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	.	.	0.869	N	1.63	L	1.6	T	-0.883	T	0.093	T	0.25	1.242	10.04	3.39	1.217	2.511	8.377	0.059	.	.	0.00559105	0.0015	0.0114	0	0	0	0	0	0	0.0003622	56	154602	rs61741490	0.0003	0.0003	0.0003	0.0003	0.0110	0.0002	0.0002	0.0099	0.0095	0.0110	0.0007	0	7.45e-05	0	0.0008	1.473e-05	0.0006	0	0.0030	0.0030	0.0029	0.0032	0.0105	0.0028	0.0027	0.0097	0.0094	0.0105	0	0.0013	0	0	0	0	0	0.0028	0	.	.	.	0.055	0.46862	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.27554	-0.8833	0.49497	T	0.093	0.35471	T	6	0.004911095	0.00105	T	.	.	.	.	.	.	.	0.380052290102	0.37618	0.26337928296041324	0.26250	.	.	.	.	.	0.08786	0.38034	T	-0.418687	0.01744	T	-0.363803	0.37612	T	0.0959427857192585	0.11904	T	0.551745	0.19033	T	0.06621723	0.14226	0.15142512	0.35669	0.06621723	0.14226	0.15142512	0.35669	-4.913	0.35881	T	.	.	0.124	0.25978	B	.	.	2.835146	0.37390	20.5	0.96246433765958372	0.29166	0.66697	0.33169	D	AEFDGBHCI	0.311726	0.41737	N	-0.134094471052088	0.35912	2.069003	-0.200047768465063	0.31536	1.785596	0.999983805270275	0.51787	0.59774	0.34471	0	0.596491	0.49125	0	0.26897	0.05253	2	0.530356	0.10902	0	.	.	5.24	3.39	0.37919	2.469000	0.44768	5.872000	0.50545	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.069000	0.16583	0.2423:0.0:0.7577:0.0	8.377	0.31608	363	0.84772	G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1697.98	41	chr9	130422678	.	G	A	1697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=843;ExcessHet=0.0000;FS=0.605;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-7.200e-01;SOR=0.595	GT:AD:DP:GQ:PL	0/1:80,73:153:99:1712,0,1823	20	0	1	0
chr9	131198745	131198745	A	G	exonic	NUP214	.	nonsynonymous SNV	NUP214:NM_001318325:exon4:c.A1729G:p.S577G	Leukemia, T-cell acute lymphoblastic, somatic;Leukemia, acute myeloid, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.394	B	0.202	B	0.016	N	0.998	N	0	N	1.76	T	-1.031	T	0.044	T	0.268	-0.666	1.085	3.48	1.033	5.386	4.747	0.082	0.00790367216351	.	0.00159744	0.0001	0.0002	0	0.0014	0	0	0	0.0002	0.0001746	27	154602	rs200498016	4.72e-05	4.788e-05	3.811e-05	5.638e-05	0.0005	3.794e-05	3.476e-05	0.0004	0.0003	5.974e-05	0	0	0.0005	0	0	1.799e-06	0.0002	0.0003	0.0001	0.0001	0.0001	0.0002	0.0025	9.735e-05	8.251e-05	0.0015	0.0012	0.0001	0	0	0	0.0025	0	0	1.47e-05	0	0.0006	0.821	0.06824	T	0.447	0.13177	T	0.008	0.28960	B	0.014	0.33005	B	0.016374	0.27995	N	0.254272	0.99788	0.22465	N	-0.075	0.04822	N	1.76	0.45248	T	0.29	0.04861	N	0.082	0.05799	-1.0312	0.20066	T	0.044	0.18783	T	10	0.008321047	0.00189	T	0.007904	0.20955	T	0.082	0.23913	.	.	0.55545566753	0.55204	0.23893538005424853	0.23807	0.0728183001178	0.08157	0.370341658592	0.20881	T	0.145773	0.48307	T	-0.463221	0.00938	T	-0.478694	0.24585	T	0.0310574353349895	0.02155	T	0.731327	0.35246	T	0.042111985	0.06328	0.029344931	0.01261	0.042111985	0.06327	0.029344931	0.01261	-2.323	0.04683	T	.	.	0.067	0.07177	B	.;.;.;.	.;.;.;.	1.765643	0.22456	15.63	0.5826292202069181	0.05954	0.58145	0.30563	D	AEFDGBCI	.	.	.	-0.440943956809382	0.24048	1.295761	-0.27874640830147	0.28799	1.608554	0.999998829384913	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.711	0.71501	0	.	.	5.81	3.48	0.38946	4.234000	0.58458	4.711000	0.44457	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.919000	0.45453	0.6104:0.0:0.3896:0.0	4.747	0.12415	416	0.81733	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2416.98	34	chr9	131198745	.	A	G	2416.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.850e-01;DP=956;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=0.393;SOR=0.724	GT:AD:DP:GQ:PL	0/1:115,102:217:99:2431,0,2945	20	0	1	0
chr9	131525948	131525948	C	A	exonic	UCK1	.	nonsynonymous SNV	UCK1:NM_001135954:exon5:c.G538T:p.A180S,	.	.	441	12	103	962	4	2031	0.988298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	0.000	P	.	.	.	.	-1.006	T	0.084	T	.	1.509	11.00	-5.08	-1.075	-1.779	8.437	0.047	.	.	0.00359425	0.0115	0.0019	0.0029	0	0.0449	0.0153	0.0165	0.0005	0.0101616	1571	154602	rs2296957	0.0096	0.0096	0.0096	0.0095	0.0095	0.0094	0.0094	0.0093	0.0093	0.0010	0.0026	0.0129	0	0.0450	0.0040	0.0095	0.0079	0.0007	0.0100	0.0100	0.0094	0.0106	0.0126	0.0096	0.0094	0.0119	0.0117	0.0019	0.0022	0.0045	0.0130	0	0.0421	0.0102	0.0126	0.0076	0.0006	0.011	0.55530	D	0.243	0.24193	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.961213	0.81001	P	.	.	.	.	.	.	0.0	0.07008	N	0.172	0.18376	-1.0056	0.28277	T	0.084	0.32900	T	6	0.0025280416	0.00038	T	.	.	.	0.047	0.12962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.405995	0.02114	T	-0.339041	0.40452	T	0.00859621503851041	0.00105	T	0.247575	0.03662	T	.	.	.	.	.	.	.	.	-3.789	0.20640	T	.	.	0.073	0.04599	B	.	.	-0.350826	0.02404	0.268	0.94187066689665522	0.24411	0.05572	0.11472	N	AEFDGBI	0.025031	0.01647	N	-1.132785988659	0.06068	0.2783438	-1.18764225716248	0.06115	0.2933808	0.994168486267738	0.33516	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.97	-5.08	0.02708	-1.771000	0.01887	-0.905000	0.06976	-2.303000	0.00321	0.001000	0.13787	0.000000	0.08366	0.763000	0.36255	0.1735:0.394:0.4325:0.0	8.437	0.31954	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.9048	62824.01	90	chr9	131525948	.	C	T,A	62824.01	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-7.610e-01;DP=2393;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=60.00;MQRankSum=0.00;QD=26.87;ReadPosRankSum=0.558;SOR=0.662	GT:AD:DP:GQ:PL	1/1:0,148,0:148:99:4197,443,0,4197,443,4197	0	17	3	0
chr9	132725878	132725878	C	T	exonic	AK8	.	nonsynonymous SNV	AK8:NM_001371772:exon11:c.G1115A:p.R372H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	0.995	D	3.285	M	-0.42	T	0.309	D	0.564	D	0.5	4.249	22.1	5.08	2.342	5.174	13.950	0.539	0.129558991954	.	.	4.097e-05	0	0	0	0	5.283e-05	0	7.879e-05	2.59e-05	4	154602	rs755888977	2.33e-05	2.326e-05	2.862e-05	1.792e-05	0.0002	1.677e-05	1.48e-05	4.623e-05	3.404e-05	2.99e-05	2.254e-05	0	0	0	0.0002	1.89e-05	3.316e-05	9.378e-05	6.577e-06	6.569e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000025	0.55875	D	0.116709	0.995175	0.42575	D	3.49	0.92661	M	-0.42	0.69536	T	-4.56	0.78636	D	0.714	0.71676	0.309	0.87706	D	0.564	0.84147	D	10	0.85718286	0.84920	D	0.129559	0.81163	D	0.539	0.80723	.	.	0.789834181315	0.78788	0.619642485767567	0.61897	0.574172683107	0.53457	0.46187415719	0.33569	T	0.779004	0.94149	D	0.0721131	0.61104	D	-0.118705	0.61909	T	0.991107642650604	0.81360	D	0.920308	0.71149	D	0.6720244	0.76541	0.56724435	0.74949	0.6720244	0.76543	0.56724435	0.74949	-10.437	0.76485	D	.	.	0.399	0.59494	A	.	.	5.352689	0.89782	31	0.99925492942533878	0.99042	0.86917	0.46307	D	AEFDBI	0.544196	0.55921	D	0.767880790345983	0.84065	8.184431	0.667733189036445	0.79940	7.189311	0.997798948521063	0.36039	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.08	5.08	0.68373	5.646000	0.67590	7.443000	0.58891	0.580000	0.29708	0.999000	0.42656	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	13.950	0.63621	801	0.44448	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2916.98	34	chr9	132725878	.	C	T	2916.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=922;ExcessHet=0.0000;FS=1.073;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=0.072;SOR=0.587	GT:AD:DP:GQ:PL	0/1:99,113:212:99:2931,0,2362	20	0	1	0
chr9	133255805	133255805	T	C	exonic	ABO	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0031	0.00319489	0.0010	0.0117	0.0002	0	0	0	0	0	0.0009185	142	154602	rs56346931	0.0003	0.0003	0.0003	0.0003	0.0118	0.0003	0.0003	0.0109	0.0105	0.0118	0.0003	0	0	0	0	2.698e-06	0.0007	3.478e-05	0.0034	0.0034	0.0035	0.0033	0.0121	0.0031	0.0030	0.0112	0.0109	0.0121	0	0.0007	0	0	0	0	1.471e-05	0.0009	0.0002	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.51761	.	.	.	.	.	.	.	0.007813156	0.00177	T	.	.	.	.	.	.	.	0.0846915920261	0.08053	0.5589776775111819	0.55824	.	.	0.572008550167	0.48963	T	0.475037	0.80624	T	-0.146914	0.28795	T	0.0265795	0.72056	D	.	.	.	0.747125	0.37284	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.912	0.86195	P	.;.	.;.	3.898439	0.56773	23.8	0.69003929178128165	0.08834	0.65068	0.32614	D	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.985477290272221	0.30894	0.056701	0.00814	0	0.059962	0.00310	0	0.074216	0.02223	0	0.058706	0.01089	0	0.158645	0.27979	4.38	3.19	0.35720	1.966000	0.40105	0.805000	0.21696	0.640000	0.52149	0.986000	0.36153	0.916000	0.28226	0.949000	0.49496	0.0:0.0:0.1704:0.8296	10.041	0.41331	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1343.98	36	chr9	133255805	.	T	C	1343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.400e-01;DP=1601;ExcessHet=0.0000;FS=7.139;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-9.850e-01;SOR=0.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,56:115:99:1|0:133255801_C_T:1358,0,2258:133255801	20	0	1	0
chr9	133444936	133444936	G	A	exonic	ADAMTS13	.	nonsynonymous SNV	ADAMTS13:NM_139025:exon20:c.G2494A:p.V832M	Thrombotic thrombocytopenic purpura, familial, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	700873	not_specified|not_provided|Upshaw-Schulman_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010122,MedGen:C1268935,OMIM:274150,Orphanet:93583	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.966	D	0.409	B	.	.	1.000	N	1.79	L	-0.38	T	-0.913	T	0.142	T	0.103	2.501	14.32	3.37	1.338	0.647	11.959	0.086	.	0.0041	0.00399361	0.0012	0.0136	0.0003	0	0	0	0	0	0.0011319	175	154602	rs34104386	0.0004	0.0004	0.0004	0.0003	0.0132	0.0003	0.0003	0.0122	0.0118	0.0132	0.0006	0	0	0	0.0002	7.194e-06	0.0009	4.637e-05	0.0043	0.0043	0.0045	0.0041	0.0153	0.0040	0.0039	0.0143	0.0139	0.0153	0	0.0007	0	0	0	0	4.41e-05	0.0024	0.0002	0.13	0.26740	T	0.066	0.44905	T	0.966	0.56202	D	0.232	0.44752	B	.	.	.	.	1	0.08975	N	2.215	0.62545	M	-0.38	0.69287	T	-0.77	0.24460	N	0.266	0.32259	-0.9127	0.46518	T	0.142	0.46275	T	9	0.004549414	0.00094	T	.	.	.	0.140	0.37593	.	.	0.809923124787	0.80813	0.6045723056840248	0.60388	0.671362716548	0.59455	0.430094748735	0.29221	T	0.061245	0.31604	T	-0.537516	0.00347	T	-0.532557	0.19032	T	0.0213710937645604	0.00840	T	0.532847	0.17735	T	0.026491724	0.01714	0.1025441	0.24581	0.023574866	0.01108	0.08303248	0.18998	-7.439	0.57877	T	.	.	0.105	0.24666	B	.;.;.	.;.;.	0.717189	0.10865	7.538	0.99585899389228183	0.73277	0.08560	0.14472	N	AEFDGBI	0.134919	0.25509	N	-0.296845092186339	0.29270	1.621702	-0.425121597665193	0.24264	1.327662	0.578616599796846	0.21552	0.695654	0.57023	0	0.659912	0.62753	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	5.55	3.37	0.37692	0.850000	0.27389	0.051000	0.14001	0.656000	0.54149	0.005000	0.17040	0.000000	0.08366	0.022000	0.11911	0.1704:0.0:0.8296:0.0	11.959	0.52283	779	0.47767	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1724.98	35	chr9	133444936	.	G	A	1724.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.015e+00;DP=829;ExcessHet=0.0000;FS=1.349;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=-3.320e-01;SOR=0.541	GT:AD:DP:GQ:PL	0/1:64,75:139:99:1739,0,1649	20	0	1	0
chr9	136379006	136379006	G	A	exonic	SNAPC4	.	nonsynonymous SNV	SNAPC4:NM_003086:exon21:c.C2821T:p.P941S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.096	B	0.043	B	0.069	N	1.000	N	0.895	L	1.85	T	-1.026	T	0.013	T	0.039	0.161	4.867	-0.597	-0.041	-1.299	7.213	0.004	.	0.0108	0.0123802	0.0039	0.0419	0.0029	0	0	2.143e-05	0	8.568e-05	0.0028331	438	154602	rs74925570	0.0009	0.0009	0.0010	0.0008	0.0322	0.0009	0.0009	0.0306	0.0300	0.0322	0.0020	0	0	0	0.0010	1.352e-05	0.0022	2.355e-05	0.0098	0.0098	0.0099	0.0097	0.0334	0.0094	0.0092	0.0319	0.0313	0.0334	0	0.0057	0	0	0	0	5.881e-05	0.0076	0	0.187	0.21385	T	0.648	0.06788	T	0.096	0.25489	B	0.043	0.24256	B	0.068764	0.21650	N	0.473630	1	0.08975	N	0.665	0.16292	N	1.85	0.24472	T	-0.67	0.19297	N	0.038	0.01203	-1.0264	0.21625	T	0.013	0.04890	T	10	0.002833724	0.00045	T	.	.	.	0.004	0.00165	.	.	0.112648838833	0.10856	0.1674425175676398	0.16664	.	.	0.362099856138	0.19692	T	0.001988	0.01394	T	-0.721127	0.00027	T	-0.784251	0.02328	T	0.00385230509398588	0.00041	T	0.442656	0.12286	T	0.027981095	0.02068	0.029144017	0.01220	0.027981095	0.02068	0.029144017	0.01220	-5.042	0.37293	T	.	.	0.076	0.06069	B	.	.	-0.472954	0.01955	0.168	0.55627117560187656	0.05382	0.06062	0.12033	N	AEFBI	0.036863	0.04979	N	-1.23833161705342	0.04455	0.2011236	-1.30743853624386	0.04333	0.2041675	0.988780333656568	0.31627	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.58	-0.597	0.11069	-1.431000	0.02538	-1.183000	0.06091	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4263:0.0:0.5737:0.0	7.213	0.25119	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	876.98	43	chr9	136379006	.	G	A	876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=876;ExcessHet=0.0000;FS=2.264;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.39;ReadPosRankSum=0.592;SOR=1.035	GT:AD:DP:GQ:PL	0/1:27,30:57:99:891,0,705	20	0	1	0
chr9	136383545	136383545	-	GCTGCT	exonic	SNAPC4	.	nonframeshift insertion	SNAPC4:NM_003086:exon15:c.1623_1624insAGCAGC:p.S542_E543insSS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	6548.32	36	chr9	136383542	.	CGCT	C,CGCTGCTGCT	6548.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.600e-02;DP=974;ExcessHet=0.9430;FS=6.521;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=59.99;MQRankSum=0.00;QD=16.66;ReadPosRankSum=-6.600e-02;SOR=0.992	GT:AD:DP:GQ:PL	0/2:31,0,23:56:99:896,963,2250,0,1301,1231	13	1	6	0
chr9	136807034	136807034	T	C	exonic	CCDC183	.	nonsynonymous SNV	CCDC183:NM_001039374:exon13:c.T1454C:p.I485T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.994	D	.	.	1.000	D	1.78	L	1.69	T	-1.091	T	0.047	T	0.315	2.992	15.98	3.6	1.615	2.910	8.774	0.070	.	0.0068	0.00958466	0.0021	0.0240	0.0007	0	0	0.0002	0.0011	6.063e-05	0.0020957	324	154602	rs76153658	0.0007	0.0007	0.0008	0.0006	0.0222	0.0007	0.0006	0.0209	0.0203	0.0222	0.0015	0.0012	0	0	0.0021	4.227e-05	0.0016	0.0001	0.0064	0.0064	0.0071	0.0056	0.0218	0.0060	0.0059	0.0206	0.0201	0.0218	0	0.0028	0.0014	0	0	0	8.828e-05	0.0052	0	0.0	0.91255	D	0.006	0.70582	D	0.999	0.77913	D	0.994	0.82059	D	.	.	.	.	0.903626	0.27651	N	2.595	0.75868	M	1.69	0.27032	T	-3.53	0.68532	D	0.786	0.78262	-1.0908	0.05400	T	0.047	0.20037	T	9	0.0053237677	0.00117	T	.	.	.	0.070	0.20419	.	.	0.540243489925	0.53678	0.038936016276040715	0.03839	0.637984465512	0.57542	0.646115064621	0.59433	T	0.13569	0.46765	T	-0.43816	0.01326	T	-0.383909	0.35265	T	0.0320337689142643	0.02311	T	0.60284	0.22604	T	0.3810066	0.59389	0.5080786	0.71571	0.3810066	0.59389	0.5080786	0.71571	-3.356	0.14470	T	.	.	0.764	0.75643	P	.	.	4.028600	0.59550	24.1	0.99690718416582469	0.79909	0.74777	0.36589	D	AEFDGBCI	0.397495	0.47355	N	0.36690748801336	0.59637	4.144869	0.268305214837842	0.53699	3.537487	0.999999729909344	0.74766	0.455138	0.09556	0	0.435331	0.06439	0	0.606884	0.38211	0	0.618803	0.45993	0	.	.	3.6	3.6	0.40374	2.714000	0.46871	5.792000	0.49877	0.665000	0.62972	0.981000	0.35396	1.000000	0.68203	0.281000	0.24041	0.0:0.0:0.0:1.0	8.774	0.33912	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	795.98	38	chr9	136807034	.	T	C	795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.311;DP=859;ExcessHet=0.0000;FS=0.953;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=0.105;SOR=0.569	GT:AD:DP:GQ:PL	0/1:37,31:68:99:810,0,949	20	0	1	0
chr9	137169135	137169135	G	C	exonic	LRRC26	.	nonsynonymous SNV	LRRC26:NM_001013653:exon2:c.C724G:p.L242V,	.	.	392	1129	1	0	0	1	0.000442674	.	.	700915	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.13	T	0.615	P	0.1	B	0.172	N	1.000	N	1.915	M	-0.52	T	-0.967	T	0.076	T	0.058	1.584	11.25	0.165	0.495	-0.343	2.044	0.076	.	0.0051	0.00758786	0.0026	0.0352	0.0018	0	0	0	0.0044	0.0001	0.0019081	295	154602	rs150046809	0.0007	0.0007	0.0007	0.0006	0.0264	0.0006	0.0006	0.0248	0.0242	0.0264	0.0016	0	0	0	0.0004	1.284e-05	0.0014	4.967e-05	0.0070	0.0070	0.0071	0.0068	0.0244	0.0066	0.0065	0.0232	0.0227	0.0244	0	0.0018	0	0	0	0	4.414e-05	0.0076	0.0002	0.058	0.37750	T	0.304	0.20100	T	0.615	0.39791	P	0.1	0.30674	B	0.171626	0.17357	N	0.464462	1	0.08975	N	2.27	0.64531	M	-0.52	0.70717	T	-1.07	0.27876	N	0.134	0.13055	-0.9674	0.37733	T	0.076	0.30429	T	10	0.0028005242	0.00044	T	.	.	.	0.076	0.22200	.	.	0.27132560031	0.26736	0.33152162522003015	0.33065	0.794739902805	0.65995	0.623958170414	0.56288	T	0.008303	0.07627	T	-0.550404	0.00290	T	-0.54514	0.17796	T	0.00668775603556411	0.00075	T	0.448055	0.12582	T	0.0764354	0.17286	0.05714825	0.10338	0.0764354	0.17286	0.05714825	0.10338	-4.924	0.36004	T	.	.	0.105	0.19235	B	.	.	1.635086	0.20874	14.95	0.96057483382910569	0.28582	0.04576	0.10223	N	AEFDGBHCI	0.120702	0.23500	N	-0.557361066789779	0.20253	1.066337	-0.673088858735301	0.17635	0.9385876	0.999986764922906	0.51787	0.652421	0.48094	0	0.706955	0.78570	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	3.97	0.165	0.14282	-0.579000	0.05927	1.052000	0.23646	0.566000	0.28629	0.000000	0.06391	0.284000	0.24125	0.620000	0.31896	0.1554:0.1676:0.4854:0.1916	2.044	0.03341	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1560.98	33	chr9	137169135	.	G	C	1560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.955e+00;DP=865;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.07;ReadPosRankSum=-1.497e+00;SOR=0.726	GT:AD:DP:GQ:PL	0/1:82,73:155:99:1575,0,2045	20	0	1	0
chr9	137200095	137200095	G	A	exonic	TPRN	.	nonsynonymous SNV	TPRN:NM_001128228:exon1:c.C617T:p.T206I,	Deafness, autosomal recessive 79, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1177163	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.197	B	0.035	B	.	.	0.999	N	0.975	L	.	.	-1.024	T	0.069	T	0.137	-0.676	1.051	1.66	0.498	0.684	5.166	0.010	0.638208846878	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs576809784	8.481e-05	9.713e-05	0.0001	6e-05	0.0035	7.082e-05	6.602e-05	0.0029	0.0027	0.0035	0.0004	0	0	0	0	3.07e-06	0.0002	0	0.0010	0.0010	0.0011	0.0009	0.0035	0.0009	0.0008	0.0030	0.0028	0.0035	0	0.0003	0	0	0	0	0	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	0.197	0.29559	B	0.035	0.22741	B	.	.	.	.	0.998591	0.22050	N	0.345	0.11182	N	.	.	.	-1.17	0.29933	N	0.078	0.05287	-1.0238	0.22476	T	0.069	0.28247	T	8	0.009312004	0.00210	T	0.638209	0.96910	D	0.010	0.01040	0.353	0.35246	0.0138822411134	0.00435	0.30378163898610705	0.30291	.	.	0.956094622612	0.99861	D	0.00538	0.04831	T	-0.483101	0.00710	T	-0.469769	0.25541	T	0.108032145221963	0.13218	T	0.476352	0.14579	T	0.05402265	0.10307	0.06524014	0.13195	0.05402265	0.10306	0.06524014	0.13195	-6.809	0.52626	T	0.19520442891456152	0.25743	0.178	0.38818	B	.;.	.;.	1.926291	0.24464	16.41	0.89635201326933467	0.18968	0.15081	0.18734	N	AEFDGBCI	0.061295	0.11708	N	-0.618354904412115	0.18392	0.9545589	-0.609179223276128	0.19257	1.032395	0.999988096134848	0.51787	0.65757	0.49021	0	0.405561	0.06353	1	0.619478	0.44681	0	0.56751	0.32155	0	.	.	3.58	1.66	0.23081	0.690000	0.25132	6.020000	0.52779	0.487000	0.22268	0.285000	0.25187	1.000000	0.68203	0.386000	0.26469	0.2869:0.0:0.7131:0.0	5.166	0.14412	988	0.01987	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1007.98	33	chr9	137200095	.	G	A	1007.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.452e+00;DP=788;ExcessHet=0.0000;FS=5.072;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=3.27;SOR=0.298	GT:AD:DP:GQ:PL	0/1:26,45:71:99:1022,0,612	20	0	1	0
chr9	137215991	137215991	C	G	exonic	NDOR1	.	nonsynonymous SNV	NDOR1:NM_001144027:exon11:c.C1426G:p.L476V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.837	P	0.773	P	0.000	D	0.574	N	1.655	L	-1.21	T	0.194	D	0.594	D	0.411	1.216	9.936	3.37	0.983	2.503	11.023	0.446	0.513721370391	7.7e-05	.	4.982e-05	0.0006	0	0	0	0	0	0	3.84e-05	1	26028	rs112987747	1.232e-05	1.231e-05	1.498e-05	9.631e-06	0.0003	7.7e-06	6.35e-06	0.0002	0.0001	0.0003	0	0	0	0	0	0	0.0001	1.159e-05	7.22e-05	7.217e-05	7.707e-05	6.711e-05	0.0002	3.967e-05	3.124e-05	0.0001	9.908e-05	0.0002	0	0	0	0.0002	0	0	0	0	0	0.085	0.32769	T	0.087	0.40747	T	0.603	0.42183	P	0.421	0.56974	B	0.000002	0.62929	D	0.000000	0.573861	0.31156	N	1.62	0.41497	L	-1.21	0.85393	T	-2.25	0.50337	N	0.665	0.68429	0.194	0.85810	D	0.594	0.85504	D	10	0.75491494	0.75910	D	0.513721	0.95341	D	0.446	0.74797	.	.	0.789371558365	0.78741	0.6336507676126091	0.63299	0.621158581907	0.56409	0.434181123972	0.29781	T	0.157658	0.50035	T	0.0472988	0.57994	T	-0.169835	0.57459	T	0.171474909118574	0.18679	T	0.749125	0.39577	T	0.17931527	0.38996	0.15330075	0.36029	0.17931527	0.38996	0.15330075	0.36028	-7.511	0.62060	D	.	.	0.088	0.11558	B	.;.;.;.	.;.;.;.	1.985872	0.25231	16.69	0.98508963549445716	0.42313	0.42910	0.26982	N	AEFGBI	0.194506	0.32159	N	-0.285979110089849	0.29688	1.648671	-0.428740234386771	0.24158	1.321353	0.999993469386039	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.3	3.37	0.37692	3.288000	0.51446	0.774000	0.21422	0.599000	0.40250	0.995000	0.38783	0.210000	0.23636	0.138000	0.19872	0.1876:0.8124:0.0:0.0	11.023	0.46944	988	0.01987	.;.;.;Oxidoreductase FAD/NAD(P)-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1316.98	67	chr9	137215991	.	C	G	1316.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.672e+00;DP=1013;ExcessHet=0.0000;FS=2.696;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.16;ReadPosRankSum=0.408;SOR=0.981	GT:AD:DP:GQ:PL	0/1:40,53:93:99:1331,0,1079	20	0	1	0
chr9	137216285	137216285	A	G	exonic	NDOR1	.	nonsynonymous SNV	NDOR1:NM_001144026:exon14:c.A1690G:p.M564V	.	.	417	1093	12	0	0	12	0.00545951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.96	D	0.000	D	1.000	D	.	.	-3.49	D	0.453	D	0.764	D	0.262	2.145	13.13	1.32	0.071	3.651	5.332	0.506	.	0.0080	0.00698882	0.0031	0.0241	0.0017	0	0	0.0009	0.0011	0.0028	0.0030013	464	154602	rs75647712	0.0014	0.0014	0.0015	0.0014	0.0276	0.0014	0.0014	0.0262	0.0256	0.0276	0.0019	0.0013	0	0	0.0035	0.0005	0.0027	0.0031	0.0082	0.0082	0.0086	0.0078	0.0260	0.0078	0.0077	0.0247	0.0242	0.0260	0.0044	0.0048	0.0020	0	0	0.0068	0.0007	0.0095	0.0037	0.003	0.68238	D	0.005	0.72224	D	0.996	0.68779	D	0.933	0.66815	D	0.000000	0.84330	D	0.086182	0.999832	0.81001	D	.	.	.	-3.49	0.94621	D	-3.13	0.63901	D	0.548	0.68690	0.453	0.89873	D	0.764	0.91953	D	9	0.011333287	0.00248	T	.	.	.	0.506	0.78724	.	.	0.87308272854	0.87184	0.7487532325093471	0.74821	0.629133186474	0.56967	0.480909883976	0.36182	T	0.44837	0.79028	T	-0.253177	0.13712	T	-0.116176	0.62115	T	0.0496555705096417	0.05439	T	0.837416	0.50983	T	0.49214098	0.66630	0.42788908	0.66520	0.49214098	0.66631	0.42788908	0.66520	-10.636	0.79201	D	.	.	0.298	0.58814	B	.;.;.	.;.;.	2.731068	0.35751	19.98	0.97089143432021052	0.32315	0.96122	0.67633	D	AEFGBI	0.255713	0.37478	N	0.0240550685196933	0.42950	2.597686	-0.143379270227046	0.33663	1.928039	0.999947320098647	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.91	1.32	0.20897	0.574000	0.23416	3.917000	0.40446	0.756000	0.94297	0.049000	0.21372	1.000000	0.68203	0.060000	0.15972	0.6442:0.1812:0.0:0.1746	5.332	0.15244	988	0.01987	.;.;Oxidoreductase FAD/NAD(P)-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1431.98	41	chr9	137216285	.	A	G	1431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.686;DP=997;ExcessHet=0.0000;FS=2.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=-1.033e+00;SOR=0.497	GT:AD:DP:GQ:PL	0/1:81,61:142:99:1446,0,2004	20	0	1	0
chr9	138023729	138023729	A	0	exonic	CACNA1B	.	.	.	.	.	350	755	29	2	386	419	0.0213869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1289.72	63	chr9	138023729	.	A	G,*	1289.72	.	AC=2,13;AF=0.048,0.310;AN=42;BaseQRankSum=-4.590e-01;DP=1294;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.3481;MLEAC=2,13;MLEAF=0.048,0.310;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=2.42;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:42,0,34:76:99:.:.:1233,1360,3079,0,1720,1616	7	0	2	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.034	B	0.012	B	0.000	D	1.000	D	0.69	N	1.42	T	-1.076	T	0.048	T	0.262	1.919	12.37	5.57	2.133	5.075	10.134	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	4683.86	92	chr10	825249	.	T	C	4683.86	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-3.067e+00;DP=2503;ExcessHet=20.9642;FS=199.373;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=2.13;SOR=13.018	GT:AD:DP:GQ:PL	0/1:113,56:169:99:297,0,1795	5	0	16	0
chr10	4963447	4963447	G	A	exonic	AKR1C1	.	startloss	AKR1C1:NM_001353:exon1:c.G3A:p.M1?,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.963	D	0.693	P	0.719	N	1.000	D	.	.	1.85	T	-0.997	T	0.094	T	0.8	3.018	16.07	2.46	1.378	3.657	8.419	0.283	0.0330012751776	.	.	8.241e-06	9.612e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs145424901	1.163e-05	1.163e-05	9.529e-06	1.375e-05	0.0003	7.09e-06	5.79e-06	0.0002	0.0001	0.0003	6.708e-05	0	0	0	0.0002	0	3.311e-05	1.159e-05	6.567e-05	6.561e-05	5.14e-05	8.059e-05	0.0002	3.515e-05	2.615e-05	7.875e-05	5.577e-05	0.0002	0	0.0002	0	0	0	0	0	0	0	0.002	0.72154	D	0.005	0.72224	D	0.235	0.30743	B	0.36	0.43183	B	0.718638	0.09954	N	0.842505	1	0.81001	D	.	.	.	1.85	0.24472	T	-3.01	0.62518	D	0.856	0.85238	-0.9968	0.30810	T	0.094	0.35551	T	9	0.9786869	0.97757	D	0.033001	0.54670	D	0.283	0.60100	0.991	0.99904	0.209622950755	0.20551	0.44483610031515564	0.44401	.	.	.	.	.	0.171979	0.52030	T	0.00585352	0.52458	T	-0.146503	0.59553	T	0.780667185783386	0.45092	D	0.9	0.65058	D	0.7146848	0.78866	0.4887573	0.70417	0.7146848	0.78868	0.4887573	0.70418	-11.182	0.80647	D	.	.	.	.	.	.	.	2.159293	0.27512	17.49	0.98868167243492955	0.47597	0.98072	0.79360	D	ALL	0.045102	0.07337	N	-0.202632500131724	0.33026	1.869102	-0.30024442441246	0.28091	1.563546	0.99999999848006	0.74766	0.608746	0.35421	0	0.610034	0.51514	0	0.731467	0.93227	0	0.564101	0.26826	0	.	.	2.46	2.46	0.29032	3.887000	0.55910	5.572000	0.48946	0.503000	0.22915	0.977000	0.34929	1.000000	0.68203	0.149000	0.20271	0.0:0.0:1.0:0.0	8.419	0.31849	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2090.98	34	chr10	4963447	.	G	A	2090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.022;DP=1002;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.71;MQRankSum=-6.960e-01;QD=8.86;ReadPosRankSum=-1.430e-01;SOR=0.698	GT:AD:DP:GQ:PL	0/1:141,95:236:99:2105,0,3473	20	0	1	0
chr10	13694015	13694015	G	T	exonic	FRMD4A	.	nonsynonymous SNV	FRMD4A:NM_001318338:exon4:c.C73A:p.L25M	.	.	.	.	.	.	.	.	.	.	.	2755394	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.999	D	0.984	D	0.000	D	1.000	D	2.175	M	-1.69	D	0.307	D	0.668	D	0.636	3.912	19.90	4.4	1.226	3.815	13.849	0.584	0.0476570238316	0.0003	.	5.447e-05	0.0006	0	0	0	0	0	0	3.88e-05	6	154602	rs141316396	2.48e-05	2.599e-05	3.152e-05	1.784e-05	0.0010	1.785e-05	1.575e-05	0.0007	0.0006	0.0010	0	0	0	0	0	0	7.095e-05	0	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0.0001	0	0	0	0	0	0.0010	0	0.015	0.61437	D	0.018	0.61642	D	0.999	0.77913	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.545	0.39105	L	-1.69	0.82985	D	-1.14	0.29323	N	0.547	0.57348	0.307	0.87663	D	0.668	0.88497	D	10	0.29706353	0.47268	T	0.047657	0.63020	D	0.584	0.83305	.	.	0.739567227708	0.73723	0.523723182046493	0.52296	2.01023712014	0.93908	0.886986851692	0.94879	D	0.040847	0.25662	T	-0.145845	0.28963	T	-0.0414646	0.67603	D	0.103788912748171	0.12769	T	0.878412	0.63049	D	0.2439769	0.47342	0.18498772	0.41585	0.2439769	0.47341	0.18498772	0.41584	-12.431	0.86888	D	.	.	0.402	0.59694	A	.;.;.;.	.;.;.;.	4.736587	0.76341	26.5	0.99637974860958078	0.76449	0.94643	0.61838	D	AEFDBHCI	0.593590	0.58885	D	0.508256839925504	0.67576	5.100182	0.459106449349537	0.65305	4.806877	0.99999999249618	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.31	4.4	0.52402	3.277000	0.51358	8.564000	0.77578	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.772000	0.36596	0.0743:0.0:0.9257:0.0	13.849	0.62980	677	0.60274	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	5309.08	35	chr10	13694015	.	G	T	5309.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.12;DP=945;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=28.85;ReadPosRankSum=-1.262e+00;SOR=0.276	GT:AD:DP:GQ:PL	1/1:1,183:184:99:5337,542,0	20	1	0	0
chr10	25598095	25598095	C	A	exonic	GPR158	.	nonsynonymous SNV	GPR158:NM_020752:exon11:c.C2469A:p.H823Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.948	P	0.804	P	0.000	D	0.578	N	1.56	L	-0.05	T	-0.358	T	0.250	T	0.795	3.560	18.15	-9.88	-1.790	-0.750	20.596	0.388	0.0115259415862	.	.	.	.	.	.	.	.	.	.	.	.	.	rs370087506	2.737e-06	2.736e-06	4.084e-06	1.375e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	0	2.236e-05	0	0	0	0.0003	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.21801	T	0.1	0.38742	T	0.948	0.53620	P	0.804	0.58350	P	0.000003	0.62929	D	0.000000	0.578165	0.31122	N	2.585	0.75554	M	-0.05	0.63403	T	-3.51	0.68298	D	0.601	0.61933	-0.3579	0.73325	T	0.250	0.61923	T	10	0.49187222	0.61039	T	0.011526	0.29247	T	0.388	0.70440	0.412	0.44887	0.429369812208	0.42556	0.31562839171971935	0.31475	0.451291634778	0.44877	0.658982276917	0.61264	T	0.182703	0.53480	T	-0.0553688	0.43628	T	-0.141463	0.59990	T	0.925525844097137	0.58729	D	0.689231	0.29860	T	0.22993605	0.45739	0.30635294	0.56660	0.22993605	0.45739	0.30635294	0.56659	-8.367	0.63545	D	.	.	0.442	0.61827	A	.;.	.;.	-0.865107	0.00985	0.040	0.97093561320198618	0.32336	0.22439	0.21747	N	AEFBI	0.276311	0.39107	N	-0.871066522950126	0.11534	0.5571673	-1.10726082736591	0.07561	0.3682379	0.542474033080594	0.21264	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.88	-9.88	0.00387	-0.577000	0.05940	-13.273000	0.00469	-1.633000	0.00850	0.143000	0.23551	0.000000	0.08366	0.770000	0.36519	0.0:0.1702:0.0:0.8298	20.596	0.99453	898	0.25240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1926.98	33	chr10	25598095	.	C	A	1926.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=833;ExcessHet=0.0000;FS=1.315;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=-5.530e-01;SOR=0.618	GT:AD:DP:GQ:PL	0/1:70,73:143:99:1941,0,1654	20	0	1	0
chr10	28616202	28616202	A	G	exonic	WAC	.	nonsynonymous SNV	WAC:NM_100486:exon11:c.A1277G:p.N426S	Desanto-Shinawi syndrome, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.99	D	0.979	D	0.000	D	1.000	D	0.895	L	0.87	T	-0.991	T	0.153	T	0.097	2.579	14.58	5.51	2.225	8.910	15.925	0.161	0.0175587853424	.	.	8.325e-06	9.63e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs200723559	7.548e-06	7.524e-06	6.825e-06	8.278e-06	5.987e-05	4.05e-06	2.96e-06	9.91e-06	3.71e-06	5.987e-05	0	0	0	0	0	7.211e-06	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.721	0.12704	T	0.958	0.63424	D	0.763	0.74454	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.955	0.52871	M	0.87	0.46412	T	-0.86	0.26422	N	0.606	0.65587	-0.9911	0.32321	T	0.153	0.48274	T	10	0.39020246	0.54836	T	0.017559	0.39307	T	0.161	0.41658	0.158	0.06178	0.309278343525	0.30543	0.5129718324782301	0.51219	0.471905473178	0.46439	0.53257060051	0.43397	T	0.022149	0.19707	T	-0.29562	0.09078	T	-0.480886	0.24352	T	0.412787113171348	0.29422	T	0.978002	0.92190	D	0.39335003	0.60269	0.38982183	0.63792	0.39335003	0.60269	0.38982183	0.63792	-1.399	0.01778	T	.	.	0.073	0.08657	B	.;.;.;.	.;.;.;.	4.378855	0.67476	25.1	0.99694186398609241	0.80180	0.99378	0.95249	D	AEFBI	0.898612	0.84210	D	0.457896562310662	0.64654	4.724686	0.535174124551449	0.70373	5.495638	0.999957284795114	0.48110	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	8.867000	0.91934	11.305000	0.92359	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.925	0.79395	846	0.36215	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1405.98	35	chr10	28616202	.	A	G	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=868;ExcessHet=0.0000;FS=1.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-1.589e+00;SOR=0.561	GT:AD:DP:GQ:PL	0/1:64,57:121:99:1420,0,1510	20	0	1	0
chr10	37219530	37219530	C	T	exonic	ANKRD30A	.	nonsynonymous SNV	ANKRD30A:NM_052997:exon34:c.C3650T:p.A1217V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.053	B	0.026	B	.	.	1.000	N	1.28	L	2.35	T	-1.010	T	0.033	T	0.017	0.629	7.384	1.01	0.030	2.135	6.509	0.057	0.00197484789136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.741e-06	3.42e-06	2.728e-06	2.755e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	2.528e-05	0	0.0002	1.801e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.35537	T	0.127	0.35455	T	0.053	0.22573	B	0.026	0.20792	B	.	.	.	.	0.999998	0.08975	N	1.72	0.44442	L	2.35	0.16217	T	-2.56	0.55501	D	0.111	0.13626	-1.0102	0.26854	T	0.033	0.13986	T	9	0.1028724	0.18881	T	0.001975	0.03535	T	0.057	0.16321	0.224	0.14813	0.269111216191	0.26524	0.002945142285495413	0.00274	0.0404129470778	0.04329	0.906557202339	0.97134	D	0.011957	0.20648	T	-0.374549	0.03370	T	-0.77579	0.02583	T	0.227091684937477	0.21812	T	0.334567	0.07109	T	0.034849357	0.03989	0.11411567	0.27544	0.034849357	0.03988	0.11411567	0.27544	-5.017	0.37024	T	.	.	0.220	0.45298	B	.;.;.;.	.;.;.;.	1.405126	0.18197	13.60	0.98717360950878086	0.45142	0.24515	0.22417	N	AEFI	0.085962	0.17428	N	-0.926673851631092	0.10221	0.4874186	-0.971055389564737	0.10439	0.5257503	0.9965777758221	0.34840	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.91	1.01	0.19044	1.864000	0.39107	-2.511000	0.03665	0.280000	0.18617	0.131000	0.23362	0.000000	0.08366	0.158000	0.20581	0.0:0.7398:0.0:0.2602	6.509	0.21409	934	0.15400	CCDC144C-like, coiled-coil domain;CCDC144C-like, coiled-coil domain;CCDC144C-like, coiled-coil domain;CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2983.98	37	chr10	37219530	.	C	T	2983.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.250e-01;DP=908;ExcessHet=0.0000;FS=3.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.01;ReadPosRankSum=0.331;SOR=1.014	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,78:157:99:0|1:37219522_A_C:2998,0,3001:37219522	20	0	1	0
chr10	38054930	38054930	C	T	exonic	ZNF33A	.	nonsynonymous SNV	ZNF33A:NM_001278170:exon4:c.C824T:p.P275L	.	.	9	1473	39	1	0	41	0.0137261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.001	B	0.001	B	0.225	N	1.000	N	0.345	N	3.45	T	-0.950	T	0.002	T	0.118	0.658	7.529	-0.393	0.182	1.534	1.999	0.048	.	0.0035	0.0217652	0.0133	0.0012	0.0035	0.0566	0.0002	0.0045	0.0188	0.0456	0.0122055	1887	154602	rs78340846	0.0086	0.0086	0.0074	0.0097	0.0524	0.0084	0.0084	0.0506	0.0498	0.0008	0.0023	0.0076	0.0524	0.0002	0.0092	0.0048	0.0097	0.0475	0.0065	0.0065	0.0056	0.0074	0.0542	0.0062	0.0060	0.0488	0.0467	0.0013	0.0033	0.0029	0.0055	0.0497	0	0.0034	0.0049	0.0076	0.0542	0.078	0.33923	T	0.081	0.83351	T	0.0	0.02946	B	0.001	0.04355	B	0.225023	0.16049	N	0.462111	1	0.08975	N	0.41	0.12415	N	3.44	0.05375	T	-1.52	0.36980	N	0.262	0.32148	-0.9496	0.41040	T	0.002	0.00526	T	10	0.0029008985	0.00046	T	.	.	.	0.048	0.13305	.	.	.	.	0.19901764050235302	0.19818	0.0329765575475	0.03447	0.223304584622	0.01509	T	0.025939	0.19295	T	-0.691823	0.00041	T	-0.725553	0.04532	T	0.0127520359431619	0.00216	T	0.0432957	0.00347	T	0.037352197	0.04771	0.033255894	0.02190	0.037352197	0.04770	0.033255894	0.02189	-3.84	0.21869	T	.	.	0.087	0.14108	B	.;.;.;.;.	.;.;.;.;.	0.555017	0.09238	6.018	0.66295141590691198	0.08017	0.09166	0.14976	N	AEFGBI	0.049285	0.08497	N	-1.22149415496001	0.04689	0.2121699	-1.29038804668229	0.04559	0.2153426	0.409632238020963	0.20201	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	2.05	-0.393	0.11819	0.505000	0.22352	-2.134000	0.04162	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2601:0.3828:0.0:0.3571	1.999	0.03252	675	0.60470	.;.;.;.;.	.	.	.	.	rs78340846	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	7999.68	39	chr10	38054930	.	C	T	7999.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=3.92;DP=1584;ExcessHet=0.3300;FS=0.522;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-4.960e-01;SOR=0.600	GT:AD:DP:GQ:PL	0/1:108,105:213:99:2870,0,2528	18	0	3	0
chr10	45826403	45826403	G	C	exonic	AGAP4	.	nonsynonymous SNV	AGAP4:NM_133446:exon7:c.C1504G:p.P502A	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.999	D	0.000	D	1.000	D	1.705	L	1.04	T	-0.924	T	0.168	T	0.24	2.057	12.83	.	0.107	6.468	5.89	0.233	0.00510583115485	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1233303790	3.564e-05	3.626e-05	2.592e-05	4.547e-05	0.0009	2.768e-05	2.506e-05	0.0004	0.0002	0	4.474e-05	0	0	0	0.0009	3.784e-05	4.98e-05	0	2.039e-05	1.978e-05	1.321e-05	2.801e-05	0.0002	5.42e-06	2.5e-06	5.04e-06	1.89e-06	0	0	0	0	0	0	0	3.04e-05	0	0.0002	0.035	0.43708	D	0.009	0.67890	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999959	0.52396	D	2.3	0.65703	M	1.04	0.40218	T	-7.22	0.94274	D	0.246	0.33904	-0.9245	0.44929	T	0.168	0.50729	T	9	0.24220347	0.41412	T	0.005106	0.12939	T	0.233	0.53499	.	.	0.12205267543	0.11705	0.012365769251499934	0.01195	.	.	0.685354232788	0.65039	T	0.089209	0.38324	T	-0.11604	0.33773	T	-0.40446	0.32865	T	0.968478679656982	0.68256	D	0.968203	0.88468	D	0.4607188	0.64716	0.382237	0.63215	0.4607188	0.64716	0.382237	0.63215	-10.15	0.74805	D	.	.	0.195	0.43653	B	.;.;.;.	.;.;.;.	2.605744	0.33832	19.46	0.94165509885994392	0.24375	0.69351	0.34154	D	AEFI	0.400497	0.47536	N	-0.164969699068453	0.34600	1.976877	-0.423520318219062	0.24309	1.330451	9.2069006774815E-4	0.08000	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	.	.	.	6.869000	0.75317	3.214000	0.36817	0.117000	0.17636	1.000000	0.71638	1.000000	0.68203	0.166000	0.20848	8.0E-4:0.0:0.9992:0.0	5.89	0.18149	751	0.51694	Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2504.98	34	chr10	45826403	.	G	C	2504.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.770e-01;DP=1580;ExcessHet=0.0000;FS=3.302;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=32.49;MQRankSum=-7.010e-01;QD=12.98;ReadPosRankSum=0.577;SOR=0.968	GT:AD:DP:GQ:PL	0/1:92,101:193:99:2519,0,2331	20	0	1	0
chr10	46550550	46550550	C	T	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.G187A:p.E63K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	0.172	N	1.000	D	.	.	.	.	.	.	.	.	.	10.785	44	4.71	1.492	2.888	12.570	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs143618439	8.63e-05	0.0001	0.0001	6.321e-05	0.0029	7.334e-05	6.914e-05	0.0024	0.0022	0.0029	0.0002	0	0	0	0	3.639e-06	0.0003	4.859e-05	0.0007	0.0009	0.0006	0.0007	0.0024	0.0006	0.0005	0.0020	0.0018	0.0024	0	0.0001	0	0	0	0	0	0	0	0.025	0.47320	D	0.735	0.05072	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.86	0.03624	T	-0.81	0.22294	N	0.395	0.43610	.	.	.	.	.	.	.	0.12284222	0.23310	T	.	.	.	.	.	.	.	.	.	0.37916243631963814	0.37831	.	.	.	.	.	0.012971	0.11307	T	.	.	.	.	.	.	.	.	.	0.552645	0.19087	T	.	.	.	.	.	.	.	.	-4.278	0.27867	T	.	.	0.096	0.15251	B	.;.	.;.	1.954318	0.24822	16.54	.	.	.	.	.	.	0.273616	0.38898	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.069000	0.41106	1.374000	0.25980	0.599000	0.40250	0.131000	0.23362	0.022000	0.20871	0.061000	0.16044	.	.	.	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	418.98	127	chr10	46550550	.	C	T	418.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.560e-01;DP=2411;ExcessHet=0.0000;FS=0.858;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.07;ReadPosRankSum=-3.650e-01;SOR=0.531	GT:AD:DP:GQ:PL	0/1:77,26:103:99:433,0,1995	20	0	1	0
chr10	47368324	47368324	C	T	exonic	ZNF488	.	nonsynonymous SNV	ZNF488:NM_153034:exon2:c.G506A:p.R169Q	.	.	420	1100	2	0	0	2	0.000908265	.	.	2341063	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.304	B	0.069	B	0.900	N	1.000	N	0.55	N	1.89	T	-1.004	T	0.038	T	0.135	2.596	14.64	2.67	0.295	2.262	6.113	0.029	0.00413884682009	.	.	.	.	.	.	.	.	.	.	.	.	.	rs150285927	4.515e-05	4.515e-05	5.853e-05	3.163e-05	0.0005	3.641e-05	3.321e-05	0.0003	0.0002	0.0005	6.708e-05	0	0	0	0.0003	3.687e-05	4.967e-05	1.16e-05	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0	0	0	0	0	8.819e-05	0	0	.	.	.	0.185	0.31936	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.89	0.31470	T	.	.	.	0.047	0.02088	.	.	.	.	.	.	.	0.07232711	0.10781	T	.	.	.	.	.	.	.	.	.	0.31441889553384145	0.31354	.	.	.	.	.	0.006215	0.05647	T	.	.	.	.	.	.	.	.	.	0.620638	0.23867	T	.	.	.	.	.	.	.	.	-4.803	0.34627	T	.	.	0.090	0.12655	B	.;.	.;.	2.011379	0.25557	16.81	.	.	.	.	.	.	0.249174	0.36945	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.386000	0.34025	-0.322000	0.09956	0.596000	0.33519	0.505000	0.26994	0.000000	0.08366	0.464000	0.28207	.	.	.	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2577.98	39	chr10	47368324	.	C	T	2577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=1017;ExcessHet=0.0000;FS=2.462;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=2.09;SOR=0.566	GT:AD:DP:GQ:PL	0/1:96,99:195:99:2592,0,2226	20	0	1	0
chr10	47503383	47503383	C	A	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.G746T:p.R249L,	.	.	.	.	.	.	.	.	.	.	.	2345041	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1270131442	0.0001	0.0001	0.0001	9.904e-05	0.0043	0.0001	0.0001	0.0037	0.0035	0.0043	0.0002	0	0	0	0	8.094e-06	0.0003	4.639e-05	0.0008	0.0009	0.0008	0.0007	0.0029	0.0007	0.0006	0.0025	0.0023	0.0029	0	0.0001	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	0.47477	T	-5.09	0.82961	D	0.292	0.33030	.	.	.	.	.	.	.	0.30863857	0.48358	T	.	.	.	.	.	.	.	0.572725987618	0.56939	0.05929227679349615	0.05869	.	.	.	.	.	.	.	.	-0.0684632	0.41573	T	-0.07644	0.65163	T	.	.	.	0.919108	0.70849	D	.	.	.	.	.	.	.	.	-8.779	0.66263	D	.	.	0.178	0.38818	B	.	.	2.324827	0.29777	18.23	0.7386892031446094	0.10485	0.60823	0.31306	D	AEFI	.	.	.	.	.	.	.	.	.	4.94871900904289E-4	0.07150	0.294411	0.05044	0	0.195528	0.04277	0	0.277913	0.05378	0	0.101684	0.03063	0	0.618206	0.41114	0.109	0.109	0.13884	1.698000	0.37413	-2.785000	0.03363	0.131000	0.17656	1.000000	0.71638	0.000000	0.08366	0.165000	0.20815	0.0:0.9994:0.0:6.0E-4	5.991	0.18695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3296.98	43	chr10	47503383	.	C	A	3296.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.57;DP=1537;ExcessHet=0.0000;FS=0.420;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=32.39;MQRankSum=0.222;QD=11.10;ReadPosRankSum=-6.000e-01;SOR=0.664	GT:AD:DP:GQ:PL	0/1:154,143:297:99:3311,0,3426	20	0	1	0
chr10	48974862	48974862	G	A	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_020945:exon58:c.G8929A:p.A2977T,	.	.	.	.	.	.	.	.	.	0.0386	0.24	2246151	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.503	P	0.159	B	0.148	N	1.000	D	-1.585	N	0.42	T	-1.068	T	0.034	T	0.3	2.127	13.07	3.92	0.799	3.401	11.516	0.091	0.0311192112316	.	.	.	.	.	.	.	.	.	.	.	.	.	rs955810147	1.441e-05	1.368e-05	1.986e-05	8.79e-06	1.773e-05	9.41e-06	7.65e-06	1.134e-05	9.14e-06	0	0	0	0	0	0	1.773e-05	1.738e-05	0	6.571e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.211	0.19569	T	0.036	0.52060	D	0.503	0.37206	P	0.159	0.34693	B	0.148065	0.18060	N	0.553139	0.992655	0.81001	D	-1.585	0.00443	N	0.42	0.56937	T	-1.85	0.43334	N	0.627	0.64137	-1.0682	0.09813	T	0.034	0.14509	T	9	0.27414423	0.44967	T	0.031119	0.53276	D	0.091	0.26358	0.34	0.33141	0.237489013734	0.23353	0.34708374796770514	0.34622	.	.	0.491460800171	0.37640	T	0.00423	0.03640	T	-0.111817	0.34469	T	-0.398394	0.33571	T	0.809350371360779	0.47000	D	0.860314	0.55333	D	0.051652566	0.09519	0.087973684	0.20483	0.051652566	0.09519	0.087973684	0.20482	-5.747	0.44110	T	.	.	0.117	0.23848	B	.	.	3.723099	0.53211	23.3	0.98700797341069368	0.44910	0.88839	0.48963	D	AEFDBHCI	0.592453	0.58815	D	-0.0664945187507724	0.38869	2.283203	0.0131701636969882	0.40326	2.404807	0.0170295193692235	0.12903	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.75	3.92	0.44525	3.559000	0.53501	9.904000	0.82373	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.602000	0.31438	0.1433:0.0:0.8567:0.0	11.516	0.49771	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2043.98	40	chr10	48974862	.	G	A	2043.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.09;DP=874;ExcessHet=0.0000;FS=1.367;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.39;ReadPosRankSum=-9.460e-01;SOR=0.832	GT:AD:DP:GQ:PL	0/1:68,74:142:99:2058,0,1628	20	0	1	0
chr10	49646517	49646517	G	A	exonic	CHAT	.	nonsynonymous SNV	CHAT:NM_001142929:exon8:c.G770A:p.R257Q	Myasthenic syndrome, congenital, 6, presynaptic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	638957	Familial_infantile_myasthenia	MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.21	T	0.996	D	0.673	P	0.000	D	1.000	D	1.76	L	-2.37	D	0.365	D	0.695	D	0.88	4.329	22.7	5.16	2.395	9.864	18.645	0.726	0.0657651946888	7.7e-05	0.000199681	0.0003	0	8.646e-05	0	0	0.0002	0	0.0013	0.0002329	36	154602	rs201616704	0.0002	0.0002	0.0001	0.0002	0.0013	0.0002	0.0002	0.0011	0.0011	2.987e-05	0.0001	0.0009	0	1.873e-05	0	9.083e-05	0.0002	0.0013	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	0.0001	0.0011	0.0009	0	0	0.0003	0.0023	0	0	0	5.88e-05	0	0.0021	0.011	0.55530	D	0.191	0.29056	T	0.996	0.68779	D	0.673	0.53214	P	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.09	0.57893	M	-2.37	0.88220	D	-2.39	0.52612	N	0.905	0.90818	0.365	0.88572	D	0.695	0.89488	D	10	0.3197063	0.49354	T	0.065765	0.69676	D	0.726	0.90369	.	.	0.948794670417	0.94825	0.628631335719009	0.62796	0.52794594921	0.50389	0.692776739597	0.66104	T	0.562543	0.85381	D	0.0809943	0.62157	D	0.303033	0.88337	D	0.102491915225983	0.12629	T	0.940956	0.77922	D	0.6467147	0.75188	0.4950321	0.70796	0.6467147	0.75190	0.4950321	0.70796	-7.716	0.59209	D	0.3344017562579925	0.43235	0.187	0.54536	B	.;.;.;.;.	.;.;.;.;.	5.698848	0.93104	33	0.99877893608160551	0.95491	0.98765	0.86563	D	ALL	0.925855	0.90603	D	0.550526709667843	0.70115	5.454248	0.617340759235211	0.76197	6.447156	1.0	0.98316	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.16	5.16	0.70563	9.998000	0.99325	11.706000	0.94575	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.645	0.91365	590	0.68897	.;.;.;Choline/carnitine acyltransferase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	828.98	33	chr10	49646517	.	G	A	828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.96;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=-3.800e-01;SOR=0.676	GT:AD:DP:GQ:PL	0/1:51,33:84:99:843,0,1167	20	0	1	0
chr10	62198228	62198228	C	G	exonic	RTKN2	.	nonsynonymous SNV	RTKN2:NM_145307:exon12:c.G1510C:p.A504P,	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.982	D	0.000	D	1.000	D	1.935	M	0.82	T	-0.619	T	0.290	T	0.752	3.346	17.27	5.61	2.657	6.639	19.638	0.118	0.0404653447612	7.7e-05	.	4.121e-05	0	8.648e-05	0	0	2.998e-05	0	0.0001	6.47e-05	10	154602	rs373658076	5.063e-05	5.062e-05	4.356e-05	5.776e-05	0.0019	4.126e-05	3.778e-05	0.0011	0.0008	0	0.0001	0	0	0	0.0019	3.777e-05	0.0002	5.797e-05	2.63e-05	2.627e-05	5.141e-05	0	6.557e-05	8.15e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.557e-05	0	0	0	0	4.41e-05	0	0	0.007	0.59928	D	0.017	0.60337	D	1.0	0.90584	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.7	0.79018	M	0.82	0.48142	T	-1.49	0.36385	N	0.572	0.59478	-0.6186	0.64047	T	0.290	0.66192	T	10	0.5284579	0.63045	D	0.040465	0.59392	D	0.118	0.32913	.	.	0.51759925163	0.51402	0.5848206073505431	0.58412	0.310517131312	0.33367	0.42225933075	0.28148	T	0.009671	0.08788	T	-0.0528891	0.44008	T	-0.0880462	0.64309	T	0.250930665977587	0.22914	T	0.864413	0.56163	D	0.44677994	0.63837	0.515742	0.72020	0.44677994	0.63838	0.515742	0.72020	-7.393	0.56855	T	.	.	0.199	0.42215	B	.	.	4.347052	0.66733	25.0	0.99734215990573694	0.82975	0.99410	0.95673	D	AEFBI	0.866023	0.78532	D	0.699181838466164	0.79577	7.107494	0.669973082536023	0.80106	7.225582	0.999999999922936	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.61	5.61	0.85347	7.022000	0.76169	6.030000	0.52909	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.803000	0.37862	0.0:1.0:0.0:0.0	19.638	0.95739	766	0.49742	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2707.98	38	chr10	62198228	.	C	G	2707.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.655e+00;DP=879;ExcessHet=0.0000;FS=3.338;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=-1.570e-01;SOR=0.486	GT:AD:DP:GQ:PL	0/1:89,105:194:99:2722,0,2313	20	0	1	0
chr10	73240981	73240981	G	0	exonic	FAM149B1	.	.	.	.	.	431	911	149	5	26	185	0.0802625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11177.05	95	chr10	73240981	.	G	A,*	11177.05	.	AC=10,2;AF=0.238,0.048;AN=42;BaseQRankSum=1.81;DP=1346;ExcessHet=0.7800;FS=0.000;InbreedingCoeff=0.0667;MLEAC=10,2;MLEAF=0.238,0.048;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.347;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:47,43,0:90:99:.:.:1082,0,1071,1223,1200,2423	11	2	6	0
chr10	73323084	73323084	G	A	exonic	CFAP70	.	nonsynonymous SNV	CFAP70:NM_001350934:exon8:c.C425T:p.A142V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.056	B	0.024	B	0.657	N	0.850	N	0.14	N	1.96	T	-1.011	T	0.034	T	0.109	0.707	7.767	-3.5	-0.658	-0.546	6.164	0.009	0.0044162599698	.	.	8.293e-06	0	0	0	0	0	0	6.269e-05	6.5e-06	1	154602	rs777869852	6.851e-07	6.84e-07	0	1.377e-06	1.166e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.166e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.13654	T	0.306	0.19972	T	0.001	0.07471	B	0.001	0.04355	B	0.656899	0.05957	N	1.143820	1	0.28506	N	.	.	.	1.96	0.22270	T	-0.92	0.24676	N	0.101	0.08366	-1.0110	0.26604	T	0.034	0.14726	T	10	0.01594308	0.00335	T	0.004416	0.10781	T	0.009	0.00846	0.237	0.16760	0.0297737177859	0.01360	0.24483438169005461	0.24397	0.297358880734	0.32117	0.301736861467	0.10659	T	0.009737	0.08845	T	-0.398881	0.02355	T	-0.710111	0.05289	T	0.0288257626478234	0.01811	T	0.305069	0.05837	T	0.03883387	0.05250	0.053231195	0.08925	0.03883387	0.05250	0.053231195	0.08925	-5.26	0.39546	T	.	.	0.074	0.05103	B	.	.	0.920976	0.12960	9.466	0.65428300388729943	0.07770	0.05042	0.10828	N	AEFDBHCI	0.042217	0.06523	N	-1.28706635486717	0.03830	0.1718098	-1.24021041461966	0.05278	0.2510757	0.0128041042920385	0.12377	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.81	-3.5	0.04411	-0.459000	0.06805	-0.692000	0.07835	-0.801000	0.03157	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.0:0.3278:0.3296:0.3426	6.164	0.19598	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05556	112.34	48	chr10	73323084	.	G	A	112.34	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.819e+00;DP=1153;ExcessHet=0.1072;FS=137.955;InbreedingCoeff=-0.0924;MLEAC=2;MLEAF=0.056;MQ=60.00;MQRankSum=0.00;QD=0.56;ReadPosRankSum=-9.130e-01;SOR=8.015	GT:AD:DP:GQ:PL	0/1:74,25:104:99:107,0,1212	16	0	2	3
chr10	79611851	79611851	A	C	exonic	SFTPA1	.	nonsynonymous SNV	SFTPA1:NM_001164647:exon2:c.A26C:p.N9T	.	.	0	1521	1	0	0	1	0.000328623	.	.	229928	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.67	T	0.0	B	0.0	B	0.536	N	1.000	N	-1.895	N	2.64	T	-0.939	T	0.007	T	0.035	-1.844	0.009	1.56	0.155	-1.310	2.931	0.016	.	0.0006	.	0.0019	0.0210	0.0007	0	0	7.492e-05	0	6.056e-05	0.0009605	25	26028	rs139899873	0.0008	0.0009	0.0010	0.0007	0.0275	0.0008	0.0008	0.0260	0.0254	0.0275	0.0015	0	7.557e-05	1.872e-05	0.0017	7.555e-05	0.0024	0.0001	0.0083	0.0083	0.0090	0.0075	0.0283	0.0079	0.0077	0.0270	0.0264	0.0283	0	0.0037	0	0	0	0.0034	0.0001	0.0090	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.535653	0.11590	N	0.773408	1	0.08975	N	-1.32	0.00691	N	2.64	0.12780	T	1.16	0.01263	N	0.106	0.09066	-0.9389	0.42790	T	0.007	0.02399	T	10	0.0040893555	0.00080	T	.	.	.	0.016	0.02506	.	.	0.0551355673512	0.04727	0.1875675624164563	0.18674	0.0168008896403	0.01628	0.474941730499	0.35362	T	0.042688	0.26261	T	-0.763461	0.00014	T	-0.856462	0.00882	T	0.00610380281767304	0.00067	T	0.0514948	0.00370	T	0.02906526	0.02342	0.038031254	0.03584	0.02906526	0.02341	0.038031254	0.03584	0.279	0.00264	T	.	.	0.052	0.00259	B	.;.;.;.;.	.;.;.;.;.	-0.945568	0.00852	0.030	0.15950668710559107	0.00409	0.00006	0.00120	N	AEFDGBI	0.010992	0.00089	N	-1.63317284302979	0.01108	0.04810292	-1.57074247079955	0.01837	0.08368537	4.57703670300072E-4	0.07036	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.645665	0.59343	0	.	.	2.49	1.56	0.22423	-1.566000	0.02252	-0.338000	0.09838	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2726:0.5707:0.0:0.1567	2.931	0.05445	702	0.57624	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	3775.98	46	chr10	79611851	.	A	C	3775.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=1925;ExcessHet=0.0000;FS=3.960;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.02;MQRankSum=-1.209e+01;QD=10.18;ReadPosRankSum=-1.760e-01;SOR=0.885	GT:AD:DP:GQ:PL	0/1:211,160:371:99:3790,0,5068	20	0	1	0
chr10	80571475	80571475	T	C	exonic	SH2D4B	.	nonsynonymous SNV	SH2D4B:NM_001145719:exon3:c.T245C:p.L82P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.998	D	0.929	D	0.002	N	1.000	D	0.69	N	2.75	T	-1.091	T	0.016	T	0.449	3.719	18.89	5.64	2.166	6.060	13.82	0.152	.	0.0101	0.0117812	0.0033	0.0367	0.0012	0	0	4.506e-05	0.0011	0	0.0030853	477	154602	rs12257493	0.0010	0.0010	0.0011	0.0008	0.0354	0.0009	0.0009	0.0337	0.0330	0.0354	0.0018	0	0	0	0.0009	2.518e-05	0.0022	8.115e-05	0.0098	0.0098	0.0101	0.0095	0.0345	0.0094	0.0092	0.0331	0.0325	0.0345	0	0.0028	0	0	0	0	5.88e-05	0.0061	0.0002	0.223	0.20607	T	0.161	0.31326	T	0.996	0.73220	D	0.919	0.66367	D	0.002424	0.36574	N	0.208449	0.999999	0.81001	D	.	.	.	2.75	0.11622	T	-1.63	0.39119	N	0.361	0.46462	-1.0909	0.05383	T	0.016	0.06425	T	10	0.0054768026	0.00121	T	.	.	.	0.152	0.39956	.	.	0.519079548728	0.51552	0.6159637191631078	0.61528	0.818420535003	0.67045	0.536753714085	0.43988	T	.	.	.	-0.470366	0.00846	T	-0.421964	0.30850	T	0.014447631737028	0.00292	T	0.864214	0.56114	D	.	.	.	.	.	.	.	.	-13.098	0.89782	D	.	.	0.827	0.78586	P	.;.;.	.;.;.	4.876323	0.79927	27.2	0.99867977111083817	0.94547	0.93037	0.57167	D	AEFBI	0.805092	0.72977	D	0.511875779841303	0.67790	5.129014	0.564920435220019	0.72443	5.810428	0.983283347984872	0.30535	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.64	5.64	0.86480	6.039000	0.70611	7.802000	0.69178	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.82	0.62806	930	0.16408	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	759.98	35	chr10	80571475	.	T	C	759.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.566;DP=789;ExcessHet=0.0000;FS=0.804;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.35;ReadPosRankSum=-1.432e+00;SOR=0.686	GT:AD:DP:GQ:PL	0/1:56,35:91:99:774,0,1367	20	0	1	0
chr10	80571540	80571540	G	T	exonic	SH2D4B	.	nonsynonymous SNV	SH2D4B:NM_001145719:exon3:c.G310T:p.A104S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.998	D	0.919	D	0.000	D	0.989	D	1.525	L	2.72	T	-1.173	T	0.024	T	0.293	2.889	15.62	4.74	1.410	3.693	12.220	0.088	.	0.0101	0.0117812	0.0033	0.0367	0.0012	0	0	4.509e-05	0.0011	0	0.0030853	477	154602	rs77983942	0.0010	0.0010	0.0011	0.0008	0.0355	0.0009	0.0009	0.0338	0.0331	0.0355	0.0019	0	0	0	0.0009	2.518e-05	0.0022	9.275e-05	0.0098	0.0098	0.0101	0.0096	0.0346	0.0094	0.0092	0.0331	0.0325	0.0346	0	0.0028	0	0	0	0	5.88e-05	0.0057	0.0002	0.139	0.25768	T	0.254	0.23433	T	0.995	0.73220	D	0.894	0.65474	P	0.000167	0.48594	D	0.089370	0.989436	0.40952	D	.	.	.	2.72	0.11947	T	-0.97	0.25770	N	0.114	0.15187	-1.1727	0.00489	T	0.024	0.10194	T	10	0.0045711994	0.00095	T	.	.	.	0.088	0.25558	.	.	0.708716100184	0.70617	0.4246678970443311	0.42383	0.144270869859	0.16284	0.402423799038	0.25406	T	.	.	.	-0.550637	0.00289	T	-0.537268	0.18566	T	0.0259797706009161	0.01403	T	0.876112	0.60027	D	.	.	.	.	.	.	.	.	-5.144	0.38367	T	.	.	0.179	0.41962	B	.;.;.	.;.;.	2.654211	0.34565	19.66	0.99258556868332759	0.57121	0.89298	0.49678	D	AEFDBI	0.509567	0.53898	D	0.445489300608202	0.63948	4.638711	0.437651700824842	0.63927	4.636663	0.836124122451954	0.24782	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.64	4.74	0.59717	3.768000	0.55005	6.583000	0.56003	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0821:0.0:0.9179:0.0	12.220	0.53743	930	0.16408	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	639.98	38	chr10	80571540	.	G	T	639.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.022;DP=793;ExcessHet=0.0000;FS=0.941;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.70;ReadPosRankSum=0.757;SOR=0.565	GT:AD:DP:GQ:PL	0/1:39,27:66:99:654,0,1050	20	0	1	0
chr10	87863967	87863967	-	GCG	exonic	PTEN	.	nonframeshift insertion	PTEN:NM_001304717:exon1:c.18_19insGCG:p.A17_P18insA,	Bannayan-Riley-Ruvalcaba syndrome, Autosomal dominant;Cowden syndrome 1, Autosomal dominant;Endometrial carcinoma, somatic;Lhermitte-Duclos syndrome, Autosomal dominant;Macrocephaly/autism syndrome, Autosomal dominant;Malignant melanoma, somatic;PTEN hamartoma tumor syndrome (3);Squamous cell carcinoma, head and neck, somatic;VATER association with macrocephaly and ventriculomegaly, Autosomal recessive	.	1	223	2	0	0	2	0.00446429	.	.	539291	not_provided|Cowden_syndrome_1|PTEN-related_disorder|Hereditary_cancer-predisposing_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|.|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs1402398574	0.0034	0.0020	0.0032	0.0036	0.0039	0.0032	0.0031	0.0036	0.0035	0.0019	0.0015	0.0034	0.0006	0.0050	0.0026	0.0039	0.0031	0.0006	0.0027	0.0027	0.0030	0.0024	0.0034	0.0025	0.0024	0.0031	0.0029	0.0016	0	0.0017	0.0084	0.0004	0.0045	0.0035	0.0034	0.0024	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	457.94	20	chr10	87863967	.	A	AGCG	457.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=594;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.12;MQRankSum=-1.603e+00;QD=20.82;ReadPosRankSum=-7.920e-01;SOR=0.976	GT:AD:DP:GQ:PL	0/1:10,12:22:99:472,0,377	20	0	1	0
chr10	103246532	103246532	G	C	exonic	RPEL1	.	nonsynonymous SNV	RPEL1:NM_001143909:exon1:c.G536C:p.G179A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00314887631417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.43159	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	.	.	.	2.195	0.61839	M	.	.	.	.	.	.	0.363	0.40465	.	.	.	.	.	.	.	0.3433023	0.51345	T	0.003149	0.06876	T	.	.	.	.	0.0297737177859	0.01360	0.696713911689055	0.69612	0.839323799997	0.67967	.	.	.	0.120812	0.44333	T	0.0407687	0.57146	T	-0.179215	0.56595	T	.	.	.	0.947805	0.79866	D	0.041269876	0.06047	0.119708724	0.28892	0.041269876	0.06047	0.119708724	0.28891	-6.16	0.47598	T	.	.	0.158	0.34992	B	.	.	1.981465	0.25175	16.67	0.71420996579269658	0.09623	0.45089	0.27461	N	AEFDGHCI	0.118899	0.23230	N	.	.	.	.	.	.	0.999779789001935	0.42865	0.13384	0.03154	2	0.27691	0.05143	1	0.184467	0.04490	2	0.156572	0.04068	2	.	.	2.13	-1.99	0.07047	6.400000	0.73175	3.324000	0.37570	0.171000	0.17763	1.000000	0.71638	1.000000	0.68203	0.068000	0.16518	0.2977:0.2087:0.4936:0.0	3.634	0.07683	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2534.98	40	chr10	103246532	.	G	C	2534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.680;DP=1182;ExcessHet=0.0000;FS=2.453;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.74;ReadPosRankSum=0.847;SOR=0.887	GT:AD:DP:GQ:PL	0/1:99,100:199:99:2549,0,2625	20	0	1	0
chr10	104043512	104043538	GGAGGTCCTGGGGGTCCCATGGCTCCA	-	exonic	COL17A1	.	nonframeshift deletion	COL17A1:NM_000494:exon35:c.2478_2504del:p.M829_A837del,	Epidermolysis bullosa, junctional, localisata variant, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epithelial recurrent erosion dystrophy, Autosomal dominant	.	0	1518	3	1	0	5	0.0016442	.	.	444555	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00359425	0.0024	0	0.0002	0	0	0	0.0025	0.0173	0.0006916	18	26028	rs543835020	0.0010	0.0010	0.0005	0.0015	0.0162	0.0010	0.0009	0.0155	0.0152	0	0	0	5.038e-05	0	0.0003	2.698e-06	0.0010	0.0162	0.0005	0.0005	0.0002	0.0009	0.0166	0.0004	0.0004	0.0137	0.0126	0	0	0	0	0	0	0	0	0	0.0166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2290.94	36	chr10	104043511	.	TGGAGGTCCTGGGGGTCCCATGGCTCCA	T	2290.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=866;ExcessHet=0.0000;FS=0.613;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.69;ReadPosRankSum=0.465;SOR=0.636	GT:AD:DP:GQ:PL	0/1:83,63:146:99:2305,0,3229	20	0	1	0
chr10	113629652	113629652	T	C	exonic	NRAP	.	nonsynonymous SNV	NRAP:NM_006175:exon18:c.A1871G:p.Y624C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.994	D	0.947	D	0.000	D	1.000	D	2.585	M	0.98	T	-0.574	T	0.253	T	0.729	3.706	18.82	4.04	0.887	4.272	11.014	0.287	0.037655680846	.	0.000199681	0.0002	0	0	0	0	0	0.0011	0.0012	0.0001423	22	154602	rs563517120	9.099e-05	9.098e-05	4.492e-05	0.0001	0.0015	7.824e-05	7.306e-05	0.0013	0.0012	0	0	0	0	0	0	0	3.312e-05	0.0015	2.626e-05	2.625e-05	2.569e-05	2.685e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.001	0.78490	D	0.125	0.35330	T	0.99	0.66517	D	0.947	0.68407	D	0.000001	0.84330	D	0.057838	0.999911	0.81001	D	2.85	0.82803	M	0.98	0.42122	T	-6.61	0.92086	D	0.709	0.72656	-0.5743	0.65844	T	0.253	0.62269	T	10	0.32343018	0.49680	T	0.037656	0.57750	D	0.287	0.60574	0.645	0.78224	0.602267601113	0.59909	0.6014939974952692	0.60080	0.409815521761	0.41790	0.682798564434	0.64671	T	0.299044	0.67159	T	-0.237133	0.15715	T	-0.14348	0.59815	T	0.500514030456543	0.32648	D	0.927007	0.73102	D	0.5891368	0.72103	0.4709927	0.69326	0.5891368	0.72105	0.4709927	0.69327	-9.1	0.68619	D	.	.	0.365	0.69337	A	.;.;.;.	.;.;.;.	4.268307	0.64919	24.8	0.99824328402893936	0.90677	0.93356	0.57998	D	AEFDBI	0.835247	0.75318	D	0.527928877739455	0.68747	5.260028	0.452692990883627	0.64890	4.754956	0.848610624088334	0.25001	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.19	4.04	0.46262	4.271000	0.58699	6.353000	0.55495	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.1529:0.0:0.0:0.8471	11.014	0.46892	889	0.27310	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1223.98	34	chr10	113629652	.	T	C	1223.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.370e-01;DP=823;ExcessHet=0.0000;FS=3.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=1.62;SOR=0.379	GT:AD:DP:GQ:PL	0/1:45,52:97:99:1238,0,1122	20	0	1	0
chr10	113850206	113850206	T	C	exonic	DCLRE1A	.	nonsynonymous SNV	DCLRE1A:NM_014881:exon2:c.A899G:p.Y300C	.	.	.	.	.	.	.	.	.	.	.	2274242	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.978	D	0.002	N	0.996	D	2.3	M	-1.16	T	0.261	D	0.591	D	0.671	3.329	17.20	4.78	2.304	3.286	12.402	0.563	0.0763563721905	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1428759751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.081	0.41742	T	1.0	0.90584	D	0.978	0.74104	D	0.002219	0.37012	N	0.237331	0.995988	0.42956	D	1.79	0.46772	L	-1.16	0.78082	T	-3.62	0.69593	D	0.65	0.66272	0.261	0.86920	D	0.591	0.85373	D	10	0.721245	0.73676	D	0.076356	0.72510	D	0.563	0.82118	0.442	0.49811	0.949440624445	0.94890	0.5876880810016654	0.58698	0.615980059293	0.56077	0.513321876526	0.40686	T	0.366165	0.73146	T	0.148381	0.69116	D	-0.0246375	0.68724	D	0.989315032958984	0.79558	D	0.838916	0.51225	T	0.42158708	0.62197	0.31968784	0.57928	0.42158708	0.62197	0.31968784	0.57928	-3.705	0.19392	T	.	.	0.468	0.63090	A	.;.	.;.	4.574140	0.72201	25.8	0.99813367053247148	0.89708	0.96883	0.71458	D	AEFDGBI	0.355928	0.44748	N	0.688517142163254	0.78878	6.961472	0.66387196925942	0.79649	7.126938	0.999996817609748	0.74766	0.562547	0.31514	0	0.586065	0.33999	0	0.566861	0.19136	0	0.635551	0.53088	0	.	.	6.02	4.78	0.60666	3.507000	0.53128	3.517000	0.38876	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1338:0.0:0.0:0.8662	12.402	0.54753	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2306.98	40	chr10	113850206	.	T	C	2306.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=1029;ExcessHet=0.0000;FS=4.336;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=1.43;SOR=0.672	GT:AD:DP:GQ:PL	0/1:90,87:177:99:2321,0,2357	20	0	1	0
chr10	117341050	117341050	C	T	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925A:p.E309K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.104	B	0.024	B	0.101	N	0.919	D	1.04	L	-1.98	D	-0.339	T	0.434	T	0.463	2.178	13.24	5.68	2.837	2.613	15.630	0.304	0.111422988151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.284	0.21411	T	0.104	0.25941	B	0.024	0.20255	B	0.100580	0.19880	N	0.530412	0.918501	0.36608	D	1.04	0.26193	L	-1.98	0.85247	D	-0.39	0.13611	N	0.56	0.58458	-0.3391	0.73870	T	0.434	0.77478	T	10	0.2526929	0.42627	T	0.111423	0.78920	D	0.304	0.62510	0.426	0.47185	0.406687239423	0.40287	0.3484412965450981	0.34758	0.878990842918	0.69697	0.551437139511	0.46060	T	0.004486	0.03887	T	0.0534098	0.58780	T	-0.161057	0.58257	T	0.401935211681401	0.29015	T	0.631737	0.24648	T	0.12929	0.30201	0.1091909	0.26311	0.12929	0.30201	0.1091909	0.26311	-4.196	0.26694	T	.	.	0.138	0.30103	B	.	.	2.876239	0.38048	20.6	0.99707916019332055	0.81143	0.81768	0.41106	D	AEFBI	0.402723	0.47670	N	-0.00176634886459942	0.41776	2.504867	0.196643706894966	0.49661	3.166775	0.999999995606444	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.759000	0.47253	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.630	0.76655	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	3789.59	132	chr10	117341050	.	C	T	3789.59	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-3.850e+00;DP=2047;ExcessHet=6.1002;FS=296.226;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.464;MQ=60.00;MQRankSum=0.00;QD=2.96;ReadPosRankSum=1.38;SOR=10.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,36:109:99:0|1:117341048_C_T:585,0,2008:117341048	4	0	10	7
chr10	118336373	118336373	C	T	exonic	FAM204A	.	nonsynonymous SNV	FAM204A:NM_001134672:exon2:c.G43A:p.A15T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.501	P	0.062	B	0.248	N	1.000	N	0.345	N	.	.	-1.065	T	0.041	T	0.071	1.496	10.95	-1.6	-0.179	0.148	11.177	0.205	0.00632246015218	.	.	1.656e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs765376062	1.437e-05	1.437e-05	1.771e-05	1.101e-05	1.8e-05	9.24e-06	7.84e-06	1.175e-05	9.55e-06	0	0	0	0	0	0	1.8e-05	0	1.16e-05	3.29e-05	3.285e-05	1.286e-05	5.39e-05	7.253e-05	1.262e-05	7.99e-06	1.923e-05	1.033e-05	7.253e-05	0	6.563e-05	0	0	0	0	1.47e-05	0	0	0.022	0.52492	D	0.037	0.54159	D	0.501	0.37169	P	0.062	0.26930	B	0.247884	0.15572	N	0.633028	1	0.08975	N	0	0.06538	N	.	.	.	-0.07	0.08033	N	0.059	0.03069	-1.0646	0.10642	T	0.041	0.17700	T	9	0.05672142	0.06401	T	0.006322	0.16610	T	0.205	0.49236	0.102	0.01589	0.0482279557977	0.04254	0.40897796532580216	0.40813	0.211961697235	0.23693	0.26521062851	0.05527	T	0.029674	0.21209	T	-0.266819	0.12114	T	-0.621043	0.11105	T	0.0795878937593602	0.09934	T	0.692631	0.30204	T	0.042350654	0.06407	0.06701561	0.13805	0.042350654	0.06407	0.06701561	0.13805	-2.632	0.06750	T	.	.	0.066	0.02399	B	.;.;.	.;.;.	2.025197	0.25739	16.87	0.93976475013754801	0.24054	0.37953	0.25878	N	AEFBI	0.036275	0.04807	N	-0.750294266246002	0.14624	0.73011	-0.736247108598667	0.16062	0.8478576	0.151196247893007	0.17443	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.93	-1.6	0.07977	0.121000	0.15496	-0.096000	0.11999	-0.182000	0.10109	0.965000	0.33920	0.000000	0.08366	0.750000	0.35786	0.0:0.4777:0.0:0.5223	11.177	0.47830	775	0.48401	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	165.89	34	chr10	118336373	.	C	T	165.89	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.780e+00;DP=1286;ExcessHet=0.3300;FS=275.458;InbreedingCoeff=-0.0815;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.57;ReadPosRankSum=0.185;SOR=9.541	GT:AD:DP:GQ:PL	0/1:71,23:94:28:28,0,1340	18	0	3	0
chr10	122086963	122086963	C	T	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_001291876:exon4:c.C4463T:p.A1488V	.	.	.	.	.	.	.	.	.	.	.	3331274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.24	T	0.0	B	0.001	B	0.537	N	1.000	N	-0.55	N	4.34	T	-0.915	T	0.004	T	0.055	-0.567	1.443	-1.6	-0.232	-0.037	7.158	0.016	0.00559707736438	0.0004	.	3.307e-05	0.0003	0	0	0	1.505e-05	0	0	2.59e-05	4	154602	rs138712565	2.326e-05	2.326e-05	2.451e-05	2.2e-05	0.0005	1.674e-05	1.478e-05	0.0003	0.0003	0.0005	0.0001	0	0	0	0	3.597e-06	8.28e-05	2.319e-05	0.0001	0.0001	0.0002	0.0001	0.0004	9.147e-05	7.702e-05	0.0002	0.0002	0.0004	0	0.0004	0	0	0	0	0	0	0	1.0	0.00964	T	0.29	0.21011	T	0.0	0.02946	B	0.001	0.04355	B	0.537390	0.11573	N	0.657064	1	0.08975	N	-0.28	0.03718	N	4.32	0.02412	T	0.38	0.04022	N	0.047	0.10483	-0.9149	0.46233	T	0.004	0.01330	T	10	0.022665858	0.00572	T	0.005597	0.14469	T	0.016	0.02506	.	.	0.220303561663	0.21668	0.05350617009822025	0.05292	0.0985929584545	0.11141	0.288062512875	0.08640	T	0.017301	0.14140	T	-0.667742	0.00057	T	-0.85421	0.00908	T	0.00370555822409453	0.00039	T	0.675332	0.28377	T	0.02317718	0.01036	0.037224036	0.03330	0.02317718	0.01035	0.037224036	0.03330	-4.664	0.32965	T	.	.	0.092	0.13690	B	.;.;.;.;.	.;.;.;.;.	-0.485193	0.01914	0.160	0.085497361574996072	0.00069	0.00681	0.02921	N	AEFDBI	.	.	.	-1.22527053979283	0.04636	0.2096504	-1.21670528543324	0.05640	0.2693394	0.99995518465088	0.48110	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.24	-1.6	0.07977	-0.290000	0.08390	.	.	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5912:0.1893:0.2195	7.158	0.24823	943	0.12886	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1406.98	40	chr10	122086963	.	C	T	1406.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.000e-03;DP=1267;ExcessHet=0.0000;FS=1.474;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=0.076;SOR=0.877	GT:AD:DP:GQ:PL	0/1:60,57:117:99:1421,0,1496	20	0	1	0
chr10	122601871	122601871	C	G	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon19:c.C1921G:p.R641G	.	.	486	1035	0	1	0	2	0.000965251	.	.	2809722	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.43	T	0.148	B	0.104	B	0.695	N	1.000	N	0.015	N	1.71	T	-0.972	T	0.026	T	0.083	-1.990	0.007	0.019	-0.264	-3.174	3.401	0.051	0.00804736841086	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1014556750	0.0004	0.0004	0.0003	0.0004	0.0018	0.0004	0.0003	0.0016	0.0015	0.0001	0.0001	0	0	0.0003	0.0005	0.0003	0.0001	0.0018	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0004	0.0004	5.615e-05	0	0	0	0	0	0	0.0006	0	0.0008	0.345	0.12714	T	0.592	0.19421	T	0.0	0.27908	B	0.0	0.31021	B	0.694661	0.10145	N	0.801389	1	0.08975	N	0.375	0.12094	N	1.71	0.26737	T	-2.02	0.46503	N	0.083	0.08925	-0.9718	0.36819	T	0.026	0.11353	T	10	0.031116754	0.01243	T	0.008047	0.21342	T	0.051	0.14325	0.674	0.81200	0.222439326576	0.21863	0.10465932485079842	0.10395	2.26841461588	0.96251	0.501960813999	0.39101	T	0.031641	0.22134	T	-0.677065	0.00050	T	-0.748384	0.03549	T	0.0177388914123373	0.00504	T	0.164484	0.02617	T	0.08467566	0.19610	0.07358702	0.16008	0.08467566	0.19609	0.07358702	0.16008	-8.766	0.66178	D	.	.	0.167	0.38135	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.022757	0.14027	10.59	0.55204350210412922	0.05294	0.01714	0.05438	N	AEFBI	0.083331	0.16881	N	-1.30640053621765	0.03602	0.1611548	-1.34711795707383	0.03840	0.1799397	1.37846114964617E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.2	0.019	0.13439	-3.769000	0.00417	.	.	0.418000	0.20770	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.2456:0.3338:0.3346:0.086	3.401	0.06899	771	0.49057	.;.;.;.;SRCR domain|SRCR domain|SRCR domain|SRCR-like domain;.;SRCR domain|SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2354.26	36	chr10	122601871	.	C	G	2354.26	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.210e-01;DP=670;ExcessHet=0.0000;FS=15.233;InbreedingCoeff=0.9024;MLEAC=2;MLEAF=0.048;MQ=35.25;MQRankSum=1.92;QD=25.05;ReadPosRankSum=0.478;SOR=0.811	GT:AD:DP:GQ:PL	1/1:4,90:94:99:2382,168,0	20	1	0	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.022	B	0.000	D	0.958	D	1.825	L	2.91	T	-1.066	T	0.029	T	0.723	2.839	15.46	5.44	2.534	6.005	16.179	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3947	1430.69	126	chr10	122983003	.	G	C	1430.69	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-1.692e+00;DP=2620;ExcessHet=17.4423;FS=177.818;InbreedingCoeff=-0.5926;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.541;SOR=13.321	GT:AD:DP:GQ:PL	0/1:111,33:147:14:14,0,1712	4	0	15	2
chr10	124021238	124021238	G	-	exonic	CHST15	.	frameshift deletion	CHST15:NM_001270765:exon6:c.1365delC:p.R456Vfs*28	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:1,12,116,0:129:65:.:.:4765,4049,3908,356,65,0,4593,4030,372,4511	0	0	1	0
chr10	124021238	124021238	-	GG	exonic	CHST15	.	frameshift insertion	CHST15:NM_001270765:exon6:c.1364_1365insCC:p.R456Pfs*29	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:1,12,116,0:129:65:.:.:4765,4049,3908,356,65,0,4593,4030,372,4511	0	0	1	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S	.	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.42	B	0.406	B	0.041	N	0.547	N	-0.345	N	-1.58	D	-0.266	T	0.330	T	0.333	1.581	11.24	3.98	0.967	1.940	11.061	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4762	25745.43	127	chr10	124989543	.	T	C	25745.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.935e+00;DP=2756;ExcessHet=43.6797;FS=18.332;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=49.30;MQRankSum=-8.794e+00;QD=9.77;ReadPosRankSum=0.699;SOR=0.186	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,37:148:99:0|1:124989533_G_A:1159,0,4428:124989533	1	0	20	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36	.	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	13474.39	125	chr10	124989564	.	TG	T	13474.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.297e+00;DP=2881;ExcessHet=43.6797;FS=16.961;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=51.38;MQRankSum=-8.258e+00;QD=5.07;ReadPosRankSum=-1.778e+00;SOR=0.329	GT:AD:DP:GQ:PL	0/1:114,26:140:99:549,0,3825	1	0	20	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G	.	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.975	D	0.001	N	1.000	D	1.24	L	-1.82	D	0.438	D	0.671	D	0.652	4.150	21.4	5.12	2.665	9.168	18.759	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	4921.72	139	chr10	124989579	.	G	C	4921.72	.	AC=13;AF=0.433;AN=30;BaseQRankSum=0.109;DP=2996;ExcessHet=11.8493;FS=20.692;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.533;MQ=53.13;MQRankSum=-7.741e+00;QD=2.77;ReadPosRankSum=-2.380e+00;SOR=0.745	GT:AD:DP:GQ:PL	0/1:123,19:142:99:118,0,3326	2	0	13	6
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H	.	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.48	M	-1.64	D	0.598	D	0.722	D	0.666	4.396	23.3	5.36	2.030	7.698	15.357	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7883.4	152	chr10	124994489	.	T	G	7883.4	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.91;DP=3256;ExcessHet=54.0936;FS=22.490;InbreedingCoeff=-0.9843;MLEAC=21;MLEAF=0.500;MQ=58.49;MQRankSum=-7.468e+00;QD=2.53;ReadPosRankSum=-3.768e+00;SOR=2.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,21:169:99:0|1:124994489_T_G:436,0,6111:124994489	0	0	21	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y	.	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.868	P	0.701	P	0.000	D	1.000	D	0.5	N	-1.36	T	-0.129	T	0.435	T	0.897	4.262	22.2	5.21	2.428	9.476	18.767	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11255.74	156	chr10	124994501	.	G	A	11255.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.168e+00;DP=3468;ExcessHet=54.0936;FS=34.605;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.01;MQRankSum=-6.676e+00;QD=3.46;ReadPosRankSum=-2.867e+00;SOR=3.343	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,26:174:99:0|1:124994489_T_G:643,0,6116:124994489	0	0	21	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q	.	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.682	P	0.383	B	0.000	D	1.000	D	-0.56	N	-1.26	T	-0.801	T	0.184	T	0.76	2.740	15.12	1.37	0.279	1.859	8.31	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	11481.74	156	chr10	124994505	.	A	T	11481.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.11;DP=3557;ExcessHet=54.0936;FS=34.605;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=57.84;MQRankSum=-6.427e+00;QD=3.53;ReadPosRankSum=-2.195e+00;SOR=3.365	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,26:173:99:0|1:124994489_T_G:646,0,6054:124994489	0	0	21	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F	.	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.82	M	-1.61	D	0.694	D	0.759	D	0.962	4.522	24.3	5.21	2.428	9.476	18.767	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	17751.74	151	chr10	124994530	.	G	A	17751.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.820e-01;DP=3935;ExcessHet=54.0936;FS=46.204;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=57.24;MQRankSum=-5.975e+00;QD=5.06;ReadPosRankSum=1.22;SOR=3.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,37:179:99:0|1:124994523_G_A:1106,0,5647:124994523	0	0	21	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N	.	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.979	D	0.000	D	1.000	D	3.655	H	-1.86	D	0.923	D	0.835	D	0.591	4.999	29.4	5.21	2.428	7.487	18.767	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	9863.05	143	chr10	124994542	.	C	T	9863.05	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.164e+00;DP=3993;ExcessHet=43.6797;FS=49.168;InbreedingCoeff=-0.9535;MLEAC=21;MLEAF=0.525;MQ=57.04;MQRankSum=-5.810e+00;QD=3.01;ReadPosRankSum=1.99;SOR=3.857	GT:AD:DP:GQ:PL	0/1:127,42:169:99:743,0,3684	0	0	20	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q	.	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.835	M	-1.85	D	0.754	D	0.782	D	0.972	4.559	24.7	5.42	2.054	8.962	15.466	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	11569.05	148	chr10	124994563	.	A	T	11569.05	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.224e+00;DP=4131;ExcessHet=43.6797;FS=57.159;InbreedingCoeff=-0.9535;MLEAC=21;MLEAF=0.525;MQ=56.94;MQRankSum=-6.032e+00;QD=3.36;ReadPosRankSum=3.18;SOR=4.119	GT:AD:DP:GQ:PL	0/1:140,47:187:99:744,0,3838	0	0	20	1
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H	.	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.954	D	0.000	D	1.000	D	0.535	N	-1.71	D	0.130	D	0.526	D	0.874	4.527	24.4	4.51	1.255	3.829	13.270	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	27377.74	154	chr10	124994577	.	C	A	27377.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.280e+00;DP=4255;ExcessHet=54.0936;FS=61.004;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.96;MQRankSum=-6.569e+00;QD=7.23;ReadPosRankSum=2.73;SOR=4.019	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,48:184:99:0|1:124994577_C_A:1606,0,5484:124994577	0	0	21	0
chr10	124998077	124998077	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G656C:p.W219S	.	.	411	908	195	8	0	211	0.104095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.972	D	0.000	D	1.000	D	0.21	N	-1.24	T	0.015	D	0.436	T	0.965	4.582	24.9	4.73	2.329	7.484	18.072	0.729	0.132665301415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921417861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.49613	D	0.251	0.48855	T	0.932	0.67487	P	0.903	0.72692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-1.24	0.78967	T	-13.16	0.99944	D	0.816	0.82660	0.015	0.82548	D	0.436	0.77612	T	10	0.8384273	0.82996	D	0.132665	0.81500	D	0.729	0.90501	0.42	0.46200	0.916186859433	0.91534	0.939893042578689	0.93970	2.15981024662	0.95367	0.902819037437	0.96746	D	0.566519	0.85577	D	0.361391	0.87361	D	0.281337	0.87198	D	0.999315857887268	0.96929	D	0.787421	0.42665	T	0.9529722	0.96568	0.9167839	0.96171	0.9529722	0.96569	0.9167839	0.96171	-13.048	0.91030	D	.	.	0.987	0.92737	P	.;.;.;.;.;.	.;.;.;.;.;.	5.895887	0.93981	33	0.99155191442297097	0.53931	0.92847	0.56691	D	AEFDGBCI	0.944592	0.95186	D	0.526305507094081	0.68652	5.246556	0.569067646848623	0.72734	5.856765	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.908000	0.50981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4091	2613.45	155	chr10	124998077	.	C	G	2613.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.989e+00;DP=3731;ExcessHet=4.7172;FS=12.784;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.72;MQRankSum=-8.708e+00;QD=1.59;ReadPosRankSum=1.79;SOR=1.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,18:192:99:0|1:124998077_C_G:232,0,7209:124998077	2	0	9	10
chr10	124998080	124998080	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C653G:p.T218R	.	.	411	907	195	9	0	213	0.105081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.994	D	0.000	D	1.000	D	0.17	N	-1.31	T	0.036	D	0.482	T	0.76	4.180	21.6	4.73	2.329	9.471	18.072	0.679	0.0475041477189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.53900	T	0.336	0.34124	T	0.999	0.90584	D	0.989	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.54	0.13725	N	-1.31	0.79666	T	-3.5	0.68298	D	0.928	0.95139	0.036	0.82969	D	0.482	0.80205	T	10	0.8320574	0.82367	D	0.047504	0.62952	D	0.679	0.88205	0.598	0.72862	0.765312620283	0.76316	0.9505245979181556	0.95036	2.12633044952	0.95074	0.794296979904	0.81096	T	0.503085	0.82273	D	0.222721	0.76033	D	0.0821472	0.75720	D	0.938564615564625	0.60928	D	0.79772	0.44184	T	0.9565074	0.96926	0.8445915	0.91143	0.9565074	0.96926	0.8445915	0.91143	-16.429	0.98336	D	.	.	0.949	0.86814	P	.;.;.;.;.;.	.;.;.;.;.;.	5.668071	0.92919	33	0.99401680195169373	0.62841	0.95078	0.63357	D	AEFDGBCI	0.948544	0.96027	D	0.585474125636482	0.72268	5.778968	0.626633119523619	0.76879	6.573287	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.597000	0.97445	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2556.39	158	chr10	124998080	.	G	C	2556.39	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-9.380e-01;DP=3732;ExcessHet=4.7172;FS=9.991;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.72;MQRankSum=-8.738e+00;QD=1.54;ReadPosRankSum=2.17;SOR=1.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:170,18:190:99:.:.:226,0,7264	2	0	9	10
chr10	124998087	124998087	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A646G:p.R216G	.	.	414	922	177	9	0	195	0.0956351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.967	D	0.834	P	0.000	D	1.000	D	0.605	N	-1.44	T	-0.139	T	0.443	T	0.98	3.339	17.24	0.468	-0.119	-0.061	17.140	0.592	0.187163960256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914098337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.46513	T	0.114	0.50226	T	0.889	0.56408	P	0.532	0.59825	P	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.53	0.38800	L	-1.44	0.80815	T	-6.41	0.91868	D	0.945	0.95491	-0.1393	0.79182	T	0.443	0.78033	T	10	0.8510742	0.84286	D	0.187164	0.85921	D	0.592	0.83747	0.59	0.71874	0.975786130339	0.97552	0.9668684472081748	0.96674	1.31579442616	0.83326	0.803737461567	0.82533	D	0.582432	0.86347	D	0.299844	0.82957	D	0.192928	0.82736	D	0.96776270866394	0.68017	D	0.831417	0.49863	T	0.8377413	0.86447	0.72207403	0.83588	0.8377413	0.86448	0.72207403	0.83589	-13.47	0.92423	D	.	.	0.990	0.93663	P	.;.;.;.;.;.	.;.;.;.;.;.	3.151647	0.42666	21.6	0.99467938748563089	0.66154	0.20835	0.21186	N	AEFDGBCI	0.404313	0.47765	N	-0.449297695031707	0.23763	1.278434	-0.489554569803757	0.22440	1.218867	0.999987001428746	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	0.468	0.15943	-0.037000	0.12116	0.229000	0.16167	-0.876000	0.02500	0.022000	0.19841	0.016000	0.20520	0.945000	0.48827	0.0:0.0:0.2754:0.7246	17.140	0.86628	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4091	2505.45	158	chr10	124998087	.	T	C	2505.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.870e+00;DP=3764;ExcessHet=4.7172;FS=12.587;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.73;MQRankSum=-8.711e+00;QD=1.49;ReadPosRankSum=3.13;SOR=1.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,18:193:99:0|1:124998077_C_G:229,0,7294:124998077	2	0	9	10
chr10	124998090	124998090	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C643T:p.R215W	.	.	413	929	171	9	0	189	0.0923302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.345	M	-2.1	D	0.927	D	0.842	D	0.994	4.577	24.9	4.73	2.329	2.969	18.072	0.874	0.341150234986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945665113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.59928	D	0.005	0.74150	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-2.1	0.86146	D	-7.06	0.95511	D	0.966	0.98840	0.927	0.96063	D	0.842	0.94722	D	10	0.9513125	0.94468	D	0.34115	0.92018	D	0.874	0.96243	0.801	0.92017	0.936821863726	0.93617	0.9793425394167631	0.97925	2.04020034352	0.94242	0.869401991367	0.92483	D	0.888608	0.97719	D	0.413835	0.90693	D	0.356669	0.90576	D	0.995111286640167	0.86855	D	0.922308	0.71764	D	0.9076591	0.92078	0.81096756	0.88961	0.9076591	0.92079	0.81096756	0.88962	-12.412	0.89971	D	.	.	0.994	0.94938	P	.;.;.;.;.;.	.;.;.;.;.;.	5.386720	0.90260	31	0.99921174864262352	0.98787	0.83216	0.42352	D	AEFDGBCI	0.811773	0.73467	D	0.762974766057605	0.83747	8.099164	0.668520105960494	0.79996	7.201961	0.999999999894642	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	2.889000	0.48300	4.484000	0.43545	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2454.45	160	chr10	124998090	.	G	A	2454.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-6.220e-01;DP=3768;ExcessHet=4.7172;FS=12.587;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.75;MQRankSum=-8.818e+00;QD=1.45;ReadPosRankSum=3.67;SOR=1.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,18:202:99:0|1:124998077_C_G:202,0,7574:124998077	2	0	9	10
chr10	124998111	124998111	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T622G:p.C208G	.	.	410	944	157	11	0	179	0.0865989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.792	P	0.742	P	0.000	D	1.000	D	-2.125	N	-1.16	T	-0.313	T	0.196	T	0.932	4.200	21.8	4.73	1.888	8.957	14.522	0.706	0.118222220686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796159102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.28271	T	0.677	0.30045	T	0.792	0.44688	P	0.742	0.55764	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.895	0.01383	N	-1.16	0.78082	T	-10.62	0.99118	D	0.915	0.92084	-0.3132	0.74615	T	0.196	0.55013	T	10	0.8713615	0.86403	D	0.118222	0.79821	D	0.706	0.89468	0.702	0.83869	0.912513623049	0.91163	0.9715165431574718	0.97140	1.07786358497	0.77034	0.792436718941	0.80814	T	0.566859	0.85593	D	0.34296	0.86036	D	0.254862	0.85852	D	0.979450762271881	0.72840	D	0.749425	0.37065	T	0.9582798	0.97106	0.86085767	0.92237	0.9582798	0.97106	0.86085767	0.92238	-11.17	0.90895	D	.	.	0.677	0.72022	P	.;.;.;.;.;.	.;.;.;.;.;.	4.908805	0.80750	27.4	0.97552676337226596	0.34577	0.93781	0.59173	D	AEFDGBCI	0.967747	0.99022	D	-0.0331808542601439	0.40357	2.395268	0.177505344340639	0.48618	3.075226	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	8.942000	0.92506	11.101000	0.86122	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.839000	0.39591	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2457.45	157	chr10	124998111	.	A	C	2457.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.854e+00;DP=3819;ExcessHet=4.7172;FS=10.323;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.76;MQRankSum=-8.818e+00;QD=1.45;ReadPosRankSum=4.32;SOR=1.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:191,18:209:99:0|1:124998111_A_C:181,0,7914:124998111	2	0	9	10
chr10	124998113	124998113	A	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T620C:p.I207T	.	.	407	952	152	11	0	174	0.0837344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.071	B	0.56	P	0.006	N	0.988	D	2.42	M	0.83	T	-0.464	T	0.283	T	0.768	3.273	16.99	4.73	1.888	7.155	14.522	0.345	0.0441406922816	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376695472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.49117	D	0.018	0.63109	D	0.009	0.16609	B	0.245	0.43514	B	0.005992	0.32354	N	0.362203	0.988384	0.40754	D	1.57	0.39626	L	0.83	0.47815	T	-2.71	0.62630	D	0.584	0.63544	-0.4637	0.69944	T	0.283	0.65458	T	10	0.6084408	0.67308	D	0.044141	0.61343	D	0.345	0.66676	0.751	0.88155	0.737279644149	0.73493	0.9229225010523135	0.92269	2.07736266856	0.94533	0.59366941452	0.52011	T	0.642362	0.89048	D	0.0826065	0.62345	D	-0.119118	0.61876	T	0.971555709838867	0.69361	D	0.751225	0.37284	T	0.56677717	0.70883	0.3280792	0.58700	0.56677717	0.70884	0.3280792	0.58699	-8.556	0.67961	D	.	.	0.481	0.69086	A	.;.;.;.;.;.	.;.;.;.;.;.	3.559859	0.50089	22.9	0.99260520779104144	0.57188	0.90885	0.52445	D	AEFDGBCI	0.920892	0.89354	D	0.260421526544683	0.54157	3.581951	0.337703125837148	0.57769	3.944058	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.143000	0.76935	7.993000	0.76119	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.563000	0.30483	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4091	2409.45	160	chr10	124998113	.	A	G	2409.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.285e+00;DP=3825;ExcessHet=4.7172;FS=8.581;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.76;MQRankSum=-8.818e+00;QD=1.41;ReadPosRankSum=4.07;SOR=1.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:191,18:209:99:0|1:124998111_A_C:181,0,7914:124998111	2	0	9	10
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2:c.A22T:p.K8X	.	.	432	1023	67	0	0	67	0.0317085	.	.	1330655	not_specified|Pulmonary_artery_atresia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	6.130	37	5.28	2.217	5.606	13.948	.	.	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001537	4	26028	rs76555439	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.903	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47795	0.93627	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	9.829600	0.99355	43	0.99586803091769216	0.73336	0.87743	0.47386	D	AEFGBHCI	0.077324	0.15576	N	0.854919915911592	0.89387	9.950527	0.733718632913773	0.84935	8.434	0.999999999999905	0.74766	0.645754	0.44609	0	0.627178	0.54094	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.743000	0.68032	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	1731.31	135	chr10	125039033	.	T	A	1731.31	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.532e+00;DP=2371;ExcessHet=9.6308;FS=3.604;InbreedingCoeff=-0.4064;MLEAC=12;MLEAF=0.286;MQ=58.76;MQRankSum=-1.194e+01;QD=0.98;ReadPosRankSum=0.141;SOR=0.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,15:171:99:0|1:125039033_T_A:160,0,6434:125039033	9	0	12	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R	.	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.001	B	.	.	1.000	N	1.61	L	-1.53	D	-0.716	T	0.384	T	0.78	2.124	13.06	5.28	2.217	5.606	13.948	0.314	0.0169483827955	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001921	5	26028	rs78849795	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.15509	T	0.911	0.02952	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.976171	0.25390	N	1.155	0.29575	L	-1.53	0.81559	D	-0.28	0.11547	N	0.556	0.58117	-0.7162	0.59649	T	0.384	0.73988	T	9	0.2395181	0.41094	T	0.016948	0.38442	T	0.314	0.63588	0.302	0.27003	0.989459454501	0.98934	.	.	.	.	.	.	.	0.157543	0.50018	T	0.164577	0.70624	D	-0.00137324	0.70247	D	0.378074373079758	0.28108	T	0.886111	0.61235	D	0.15569115	0.35175	0.15271002	0.35916	0.15569115	0.35174	0.15271002	0.35915	-2.736	0.07610	T	.	.	0.160	0.48978	B	.;.;.;.	.;.;.;.	3.581586	0.50496	23.0	0.96844956273467708	0.31320	0.86671	0.46001	D	AEFGBHCI	0.757168	0.69621	D	-0.0152146198236119	0.41167	2.457583	0.165997750048251	0.47996	3.021633	0.999999999999905	0.74766	0.645754	0.44609	0	0.60822	0.50512	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.749000	0.68113	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	1731.31	135	chr10	125039035	.	T	C	1731.31	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.484e+00;DP=2344;ExcessHet=9.6308;FS=3.604;InbreedingCoeff=-0.4064;MLEAC=12;MLEAF=0.286;MQ=58.74;MQRankSum=-1.194e+01;QD=0.98;ReadPosRankSum=0.412;SOR=0.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,15:171:99:0|1:125039033_T_A:160,0,6434:125039033	9	0	12	0
chr10	127451369	127451369	C	T	exonic	DOCK1	.	nonsynonymous SNV	DOCK1:NM_001377560:exon44:c.C4748T:p.P1583L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.998	D	0.981	D	0.000	D	1.000	D	0.55	N	3.74	T	-1.048	T	0.028	T	0.417	4.889	28.1	5.18	2.418	6.157	15.634	0.278	0.0326204809584	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868636153	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.079	0.42261	T	0.998	0.73220	D	0.981	0.75168	D	0.000021	0.55875	D	0.119010	1	0.81001	D	2.19	0.61577	M	3.74	0.03951	T	-1.94	0.45042	N	0.516	0.54671	-1.0482	0.14903	T	0.028	0.11838	T	10	0.4116016	0.56262	T	0.03262	0.54394	D	0.278	0.59497	0.299	0.26522	0.797382488221	0.79550	0.12331531705617257	0.12257	0.800192881485	0.66204	0.739098191261	0.72839	T	0.183532	0.53590	T	-0.106267	0.35386	T	-0.390421	0.34501	T	0.956389844417572	0.64744	D	0.954405	0.82627	D	0.11426795	0.26979	0.10949241	0.26389	0.11426795	0.26979	0.10949241	0.26389	-6.862	0.53019	T	.	.	0.422	0.76551	A	.;.	.;.	4.819354	0.78483	26.9	0.99907318879861839	0.97801	0.97310	0.73948	D	AEFBI	0.640577	0.61822	D	0.572566799513457	0.71465	5.655188	0.598037662735179	0.74797	6.198924	0.999999938103026	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	6.558000	0.73838	7.480000	0.59248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.634	0.76685	584	0.69381	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2221.98	57	chr10	127451369	.	C	T	2221.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.300e-02;DP=1204;ExcessHet=0.0000;FS=0.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.31;ReadPosRankSum=0.144;SOR=0.612	GT:AD:DP:GQ:PL	0/1:78,89:167:99:2236,0,1993	20	0	1	0
chr10	128122941	128122941	A	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon4:c.T227C:p.I76T	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996	D	0.996	D	0.072	N	1.000	N	2.41	M	-2.47	D	0.231	D	0.799	D	0.313	3.022	16.08	4.66	1.968	8.118	12.490	0.470	.	.	0.00479233	0.0017	0	8.64e-05	0	0	0	0.0011	0.0126	0.0015006	232	154602	rs542359557	0.0007	0.0007	0.0004	0.0011	0.0118	0.0007	0.0007	0.0112	0.0109	2.999e-05	2.25e-05	0	2.529e-05	0	0.0002	1.805e-06	0.0010	0.0118	0.0005	0.0005	0.0003	0.0006	0.0141	0.0004	0.0003	0.0114	0.0104	0	0	0	0	0	0	0	0	0.0005	0.0141	0.015	0.68238	D	0.006	0.70582	D	0.996	0.68779	D	0.995	0.84481	D	0.071951	0.21440	N	0.451624	1	0.08975	N	2.035	0.55589	M	-2.47	0.88997	D	-3.19	0.70432	D	0.493	0.52651	0.231	0.86426	D	0.799	0.93181	D	9	0.0077694356	0.00176	T	.	.	.	0.470	0.76421	0.743	0.87486	0.957935713735	0.95748	0.32037114975991715	0.31950	0.325402836445	0.34690	0.353219121695	0.18395	T	0.45043	0.79155	T	-0.231369	0.16468	T	-0.094091	0.63851	T	0.118936364983406	0.14326	T	0.750625	0.37241	T	0.48345107	0.66109	0.35348436	0.60909	0.48345107	0.66110	0.35348436	0.60908	-8.599	0.68254	D	.	.	0.223	0.45458	B	.;.	.;.	3.758024	0.53903	23.4	0.99688737304679742	0.79775	0.94231	0.60513	D	AEFGBI	0.659075	0.63012	D	0.470838210367003	0.65395	4.817069	0.339533533860409	0.57880	3.955536	0.999999999874985	0.74766	0.732398	0.92422	0	0.672317	0.65289	0	0.743671	0.96076	0	0.651492	0.60203	0	.	.	4.66	4.66	0.57857	8.066000	0.89276	10.917000	0.84216	0.691000	0.84096	0.884000	0.31069	0.996000	0.32793	0.949000	0.49496	1.0:0.0:0.0:0.0	12.490	0.55236	976	0.04745	.;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1336.98	34	chr10	128122941	.	A	G	1336.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.057;DP=840;ExcessHet=0.0000;FS=6.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=1.79;SOR=0.411	GT:AD:DP:GQ:PL	0/1:81,55:136:99:1351,0,2148	20	0	1	0
chr11	1016991	1016991	T	0	exonic	MUC6	.	.	.	.	.	358	255	795	7	107	916	0.613343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	62335.98	527	chr11	1016991	.	T	*,G	62335.98	.	AC=2,17;AF=0.048,0.405;AN=42;BaseQRankSum=3.01;DP=12391;ExcessHet=36.0830;FS=1.214;InbreedingCoeff=-0.8261;MLEAC=2,17;MLEAF=0.048,0.405;MQ=54.84;MQRankSum=-1.661e+01;QD=5.45;ReadPosRankSum=-4.007e+00;SOR=0.802	GT:AD:DP:GQ:PL	0/2:466,55,120:641:99:3475,2591,22084,0,17065,18986	2	0	2	0
chr11	1017464	1017464	T	0	exonic	MUC6	.	.	.	.	.	358	217	98	1	848	948	0.187266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	62761.5	562	chr11	1017464	.	T	G,C,*	62761.5	.	AC=4,11,5;AF=0.100,0.275,0.125;AN=40;BaseQRankSum=3.67;DP=13460;ExcessHet=43.6797;FS=0.579;InbreedingCoeff=-0.9535;MLEAC=4,11,5;MLEAF=0.100,0.275,0.125;MQ=56.28;MQRankSum=-1.476e+01;QD=5.03;ReadPosRankSum=3.18;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:432,166,135,0:733:99:.:.:5646,0,17926,1256,11672,17968,6942,17930,18542,24699	0	0	4	1
chr11	1017465	1017465	C	0	exonic	MUC6	.	.	.	.	.	334	991	23	0	174	197	0.0114713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	810.88	546	chr11	1017465	.	C	A,*	810.88	.	AC=2,5;AF=0.059,0.147;AN=34;BaseQRankSum=-3.140e-01;DP=13242;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=2,6;MLEAF=0.059,0.176;MQ=55.99;MQRankSum=-7.141e+00;QD=0.16;ReadPosRankSum=-2.532e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:684,53,0:737:99:.:.:128,0,28374,2187,28533,30720	10	0	2	4
chr11	1017466	1017466	T	0	exonic	MUC6	.	.	.	.	.	0	26	52	0	148	200	0.5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	54938.57	566	chr11	1017466	.	T	C,A,*	54938.57	.	AC=13,3,5;AF=0.310,0.071,0.119;AN=42;BaseQRankSum=2.07;DP=13458;ExcessHet=54.0936;FS=0.611;InbreedingCoeff=-1.0000;MLEAC=13,3,5;MLEAF=0.310,0.071,0.119;MQ=56.42;MQRankSum=-1.354e+01;QD=4.16;ReadPosRankSum=3.19;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:455,214,66,0:735:99:.:.:7638,0,18453,6216,16355,25118,8989,19102,25321,28086	0	0	13	0
chr11	1017467	1017467	G	0	exonic	MUC6	.	.	.	.	.	336	797	216	0	173	389	0.119337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2402.58	548	chr11	1017467	.	G	A,*	2402.58	.	AC=6,3;AF=0.200,0.100;AN=30;BaseQRankSum=2.71;DP=13253;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.4000;MLEAC=7,4;MLEAF=0.233,0.133;MQ=56.65;MQRankSum=-5.514e+00;QD=0.40;ReadPosRankSum=0.240;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:675,53,0:728:99:0|1:1017467_G_A:195,0,28144,2225,28304,30529:1017467	6	0	6	6
chr11	1017470	1017470	G	0	exonic	MUC6	.	.	.	.	.	0	29	117	0	80	197	0.668571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	88683.23	557	chr11	1017470	.	G	T,*	88683.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=0.038;DP=13562;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.458e+01;QD=7.02;ReadPosRankSum=3.68;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:461,270,0:731:99:0|1:1017440_C_T:9950,0,18545,11337,19357,30695:1017440	0	0	15	1
chr11	1017471	1017471	C	0	exonic	MUC6	.	.	.	.	.	335	839	180	1	167	349	0.0978495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	9671.86	554	chr11	1017471	.	C	T,*	9671.86	.	AC=10,4;AF=0.294,0.118;AN=34;BaseQRankSum=1.94;DP=13468;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=11,5;MLEAF=0.324,0.147;MQ=55.80;MQRankSum=-1.060e+01;QD=1.01;ReadPosRankSum=2.55;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:641,91,0:732:99:.:.:1887,0,26485,3816,26759,30575	3	0	10	4
chr11	1017474	1017474	G	0	exonic	MUC6	.	.	.	.	.	342	447	564	2	167	735	0.388509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	11964.24	565	chr11	1017474	.	G	A,*	11964.24	.	AC=13,5;AF=0.342,0.132;AN=38;BaseQRankSum=-3.530e-01;DP=13558;ExcessHet=30.0624;FS=0.861;InbreedingCoeff=-0.8261;MLEAC=14,5;MLEAF=0.368,0.132;MQ=56.37;MQRankSum=-7.879e+00;QD=1.05;ReadPosRankSum=1.66;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:668,60,0:728:99:0|1:1017458_A_G:509,0,27869,2519,28049,30569:1017458	1	0	13	2
chr11	1017475	1017475	T	0	exonic	MUC6	.	.	.	.	.	339	985	31	0	167	198	0.0154923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	436.22	548	chr11	1017475	.	T	*,G	436.22	.	AC=4,1;AF=0.125,0.031;AN=32;BaseQRankSum=3.07;DP=13290;ExcessHet=1.1607;FS=1.912;InbreedingCoeff=-0.2174;MLEAC=5,1;MLEAF=0.156,0.031;MQ=56.45;MQRankSum=-6.635e+00;QD=0.12;ReadPosRankSum=6.01;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:664,0,62:726:99:.:.:448,2447,30323,0,27876,27690	11	0	4	5
chr11	1017475	1017475	T	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.A5326C:p.T1776P,	.	.	339	985	31	0	167	198	0.0154923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.967	D	0.915	D	.	.	1.000	N	1.65	L	1.92	T	-1.035	T	0.084	T	0.142	1.872	12.22	-1.4	-0.326	0.060	2.878	0.035	.	.	.	0.0131	0.0110	0.0073	0.0102	0.0092	0.0120	0.0094	0.0280	.	.	.	rs767120670	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0052	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.023	0.48186	D	0.022	0.57587	D	0.967	0.56408	D	0.915	0.65091	D	.	.	.	.	1	0.08975	N	1.965	0.53209	M	1.92	0.23082	T	-0.7	0.19933	N	0.032	0.00825	-1.0346	0.18983	T	0.084	0.32729	T	9	0.0030392706	0.00050	T	.	.	.	0.035	0.08770	.	.	.	.	0.12709291837497497	0.12635	0.286751042776	0.31065	0.161724865437	0.00012	T	0.014035	0.12025	T	-0.171226	0.25050	T	-0.483731	0.24051	T	0.165187418460846	0.18247	T	.	.	.	0.07586503	0.17121	0.10278301	0.24644	0.07586503	0.17121	0.10278301	0.24643	-7.784	0.59588	D	.	.	0.075	0.05317	B	.	.	1.345915	0.17528	13.22	0.86401350992746828	0.16511	0.09225	0.15024	N	AEFDGBHCI	0.087222	0.17685	N	-0.554133786201835	0.20354	1.072371	-0.848067051572066	0.13334	0.6911499	0.999988853852363	0.51787	0.004792	0.00041	3	0.008208	0.00037	3	0.634913	0.45138	1	0.387032	0.06801	2	.	.	2.33	-1.4	0.08499	-0.249000	0.08861	-3.059000	0.03098	-1.265000	0.01286	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1901:0.2576:0.0:0.5523	2.878	0.05292	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1562	436.22	548	chr11	1017475	.	T	*,G	436.22	.	AC=4,1;AF=0.125,0.031;AN=32;BaseQRankSum=3.07;DP=13290;ExcessHet=1.1607;FS=1.912;InbreedingCoeff=-0.2174;MLEAC=5,1;MLEAF=0.156,0.031;MQ=56.45;MQRankSum=-6.635e+00;QD=0.12;ReadPosRankSum=6.01;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:664,0,62:726:99:.:.:448,2447,30323,0,27876,27690	11	0	4	5
chr11	1017483	1017483	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	81106.23	565	chr11	1017483	.	T	G,*	81106.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=6.32;DP=13450;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.502e+01;QD=6.50;ReadPosRankSum=3.20;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:474,253,0:727:99:0|1:1017440_C_T:9197,0,19142,10623,19903,30527:1017440	0	0	15	1
chr11	1017485	1017485	G	0	exonic	MUC6	.	.	.	.	.	345	838	28	1	310	340	0.017585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	8917.62	568	chr11	1017485	.	G	A,*	8917.62	.	AC=9,3;AF=0.300,0.100;AN=30;BaseQRankSum=3.65;DP=13357;ExcessHet=9.6308;FS=1.662;InbreedingCoeff=-0.5548;MLEAC=11,4;MLEAF=0.367,0.133;MQ=55.50;MQRankSum=-1.127e+01;QD=1.11;ReadPosRankSum=8.04;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:580,105,0:726:99:.:.:2663,0,24038,4409,24354,28763	3	0	9	6
chr11	1017489	1017489	G	0	exonic	MUC6	.	.	.	.	.	344	749	262	0	167	429	0.148864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	7292.49	575	chr11	1017489	.	G	A,*	7292.49	.	AC=12,5;AF=0.300,0.125;AN=40;BaseQRankSum=5.22;DP=13481;ExcessHet=25.1139;FS=0.874;InbreedingCoeff=-0.6876;MLEAC=12,5;MLEAF=0.300,0.125;MQ=56.46;MQRankSum=-8.490e+00;QD=0.71;ReadPosRankSum=0.688;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:686,51,0:737:77:.:.:77,0,28652,2141,28805,30947	3	0	12	1
chr11	1017495	1017498	ATGC	0	exonic	MUC6	.	.	.	.	.	368	763	224	1	166	392	0.128995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4062	22503.92	584	chr11	1017495	.	ATGC	A,*	22503.92	.	AC=10,3;AF=0.313,0.094;AN=32;BaseQRankSum=3.43;DP=13485;ExcessHet=11.8493;FS=2.630;InbreedingCoeff=-0.5849;MLEAC=12,4;MLEAF=0.375,0.125;MQ=55.70;MQRankSum=-1.139e+01;QD=2.46;ReadPosRankSum=8.78;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:607,141,0:748:99:.:.:4094,0,24835,5921,25260,31180	3	0	10	5
chr11	1017498	1017498	C	0	exonic	MUC6	.	.	.	.	.	7	56	24	0	139	163	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	21074.63	572	chr11	1017498	.	C	G,T,*	21074.63	.	AC=7,4,7;AF=0.194,0.111,0.194;AN=36;BaseQRankSum=-3.970e-01;DP=13422;ExcessHet=30.0624;FS=1.184;InbreedingCoeff=-0.8667;MLEAC=8,4,8;MLEAF=0.222,0.111,0.222;MQ=56.34;MQRankSum=-1.681e+01;QD=1.81;ReadPosRankSum=3.85;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:401,96,90,140:727:99:.:.:4746,2014,18032,2206,14612,18888,0,12524,13173,16532	0	0	7	3
chr11	1017514	1017514	A	0	exonic	MUC6	.	.	.	.	.	2	59	85	0	80	165	0.418719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	104987.83	590	chr11	1017514	.	A	G,*	104987.83	.	AC=15,4;AF=0.395,0.105;AN=38;BaseQRankSum=-1.403e+00;DP=13650;ExcessHet=36.0830;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=16,4;MLEAF=0.421,0.105;MQ=56.57;MQRankSum=-1.729e+01;QD=8.60;ReadPosRankSum=3.73;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:428,284,0:712:99:1|0:1017467_G_A:10456,0,16452,11744,17307,29051:1017467	0	0	15	2
chr11	1017528	1017528	T	0	exonic	MUC6	.	.	.	.	.	354	989	176	0	3	179	0.0817084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	489.22	578	chr11	1017528	.	T	A,*	489.22	.	AC=1,4;AF=0.031,0.125;AN=32;BaseQRankSum=9.03;DP=14270;ExcessHet=1.1607;FS=1.683;InbreedingCoeff=-0.2174;MLEAC=1,5;MLEAF=0.031,0.156;MQ=56.06;MQRankSum=-7.771e+00;QD=0.11;ReadPosRankSum=0.365;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:680,62,0:742:99:0|1:1017528_T_A:501,0,28166,2547,28353,30900:1017528	11	0	1	5
chr11	1017529	1017529	G	0	exonic	MUC6	.	.	.	.	.	367	747	232	0	176	408	0.134415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	10324.21	612	chr11	1017529	.	G	A,*	10324.21	.	AC=7,4;AF=0.219,0.125;AN=32;BaseQRankSum=-1.543e+00;DP=14485;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.4712;MLEAC=8,5;MLEAF=0.250,0.156;MQ=56.16;MQRankSum=-5.112e+00;QD=1.18;ReadPosRankSum=4.45;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:658,74,0:732:99:.:.:960,0,26501,2941,26724,29664	5	0	7	5
chr11	1017545	1017545	G	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1364	442.71	703	chr11	1017545	.	G	T,*	442.71	.	AC=1,2;AF=0.045,0.091;AN=22;BaseQRankSum=4.31;DP=13837;ExcessHet=0.3300;FS=1.683;InbreedingCoeff=-0.2353;MLEAC=2,3;MLEAF=0.091,0.136;MQ=56.32;MQRankSum=-7.749e+00;QD=0.16;ReadPosRankSum=-5.316e+00;SOR=0.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:655,58,0:713:99:0|1:1017528_T_A:452,0,26954,2423,27129,29552:1017528	8	0	1	10
chr11	1017552	1017552	T	0	exonic	MUC6	.	.	.	.	.	0	77	100	0	49	149	0.393701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	9377.78	461	chr11	1017552	.	T	C,*	9377.78	.	AC=8,2;AF=0.235,0.059;AN=34;BaseQRankSum=-1.657e+00;DP=12232;ExcessHet=6.1002;FS=0.621;InbreedingCoeff=-0.4000;MLEAC=9,2;MLEAF=0.265,0.059;MQ=58.98;MQRankSum=1.86;QD=1.78;ReadPosRankSum=0.813;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:418,81,0:499:99:.:.:775,0,12832,2030,13075,15105	7	0	8	4
chr11	1017596	1017596	T	0	exonic	MUC6	.	.	.	.	.	389	572	462	1	98	562	0.288557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3056	13853.16	475	chr11	1017596	.	T	G,*	13853.16	.	AC=9,2;AF=0.250,0.056;AN=36;BaseQRankSum=-3.120e-01;DP=12315;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.4237;MLEAC=10,2;MLEAF=0.278,0.056;MQ=59.48;MQRankSum=0.00;QD=2.25;ReadPosRankSum=0.130;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:371,102,0:473:99:.:.:1859,0,12086,2974,12392,15366	7	0	9	3
chr11	1017655	1017655	G	0	exonic	MUC6	.	.	.	.	.	390	675	445	0	12	457	0.247911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	15394.48	526	chr11	1017655	.	G	A,*	15394.48	.	AC=11,1;AF=0.262,0.024;AN=42;BaseQRankSum=0.846;DP=13673;ExcessHet=9.6308;FS=0.000;InbreedingCoeff=-0.4000;MLEAC=11,1;MLEAF=0.262,0.024;MQ=59.47;MQRankSum=0.935;QD=2.07;ReadPosRankSum=0.561;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:456,96,0:552:99:.:.:1198,0,13606,2564,13892,16456	9	0	11	0
chr11	1018227	1018227	-	GAGGTTTTG	exonic	MUC6	.	nonframeshift insertion	MUC6:NM_005961:exon31:c.4573_4574insCAAAACCTC:p.S1524_L1525insPKP,	.	.	407	1107	6	0	2	8	0.0027027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1199616524	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.072e-05	0.0009	2.702e-05	1.414e-05	6.925e-05	5.51e-06	2.53e-06	5.11e-06	1.91e-06	0	0	6.925e-05	0	0	0	0	3.08e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	76.19	174	chr11	1018227	.	A	AGAGGTTTTG,*	76.19	.	AC=1,2;AF=0.028,0.056;AN=36;BaseQRankSum=-3.980e-01;DP=3891;ExcessHet=0.3300;FS=0.901;InbreedingCoeff=-0.1200;MLEAC=1,2;MLEAF=0.028,0.056;MQ=56.92;MQRankSum=-6.414e+00;QD=0.13;ReadPosRankSum=-1.720e+00;SOR=0.758	GT:AD:DP:GQ:PL	0/1:201,11,0:212:89:89,0,8522,739,8538,9488	15	0	1	3
chr11	1018227	1018227	A	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	76.19	174	chr11	1018227	.	A	AGAGGTTTTG,*	76.19	.	AC=1,2;AF=0.028,0.056;AN=36;BaseQRankSum=-3.980e-01;DP=3891;ExcessHet=0.3300;FS=0.901;InbreedingCoeff=-0.1200;MLEAC=1,2;MLEAF=0.028,0.056;MQ=56.92;MQRankSum=-6.414e+00;QD=0.13;ReadPosRankSum=-1.720e+00;SOR=0.758	GT:AD:DP:GQ:PL	0/1:201,11,0:212:89:89,0,8522,739,8538,9488	15	0	1	3
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	1624.13	178	chr11	1018228	.	G	*,A	1624.13	.	AC=5,11;AF=0.119,0.262;AN=42;BaseQRankSum=2.18;DP=4019;ExcessHet=20.9642;FS=26.259;InbreedingCoeff=-0.6149;MLEAC=5,11;MLEAF=0.119,0.262;MQ=57.37;MQRankSum=-8.668e+00;QD=0.53;ReadPosRankSum=-1.860e+00;SOR=3.039	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:209,0,22:231:99:.:.:295,924,9678,0,8755,8688	5	0	5	0
chr11	1018239	1018239	-	GACC	exonic	MUC6	.	frameshift insertion	MUC6:NM_005961:exon31:c.4561_4562insGGTC:p.T1521Rfs*17,	.	.	404	1114	4	0	0	4	0.00179211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1257166284	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.582e-06	0.0004	1.287e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	59.94	182	chr11	1018239	.	G	GGACC	59.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.350e-01;DP=4006;ExcessHet=0.0000;FS=16.663;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.45;MQRankSum=-6.360e+00;QD=0.26;ReadPosRankSum=2.39;SOR=1.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,17:228:74:0|1:1018239_G_GGACC:74,0,8771:1018239	20	0	1	0
chr11	1018241	1018241	-	GTGGCCTTAACTG	exonic	MUC6	.	stopgain	MUC6:NM_005961:exon31:c.4559_4560insCAGTTAAGGCCAC:p.K1520Nfs*3,	.	.	406	1112	4	0	0	4	0.00179533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1463976691	0	6.704e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.57e-06	0.0003	0	1.344e-05	2.407e-05	0	0	.	.	2.407e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	56.94	182	chr11	1018241	.	T	TGTGGCCTTAACTG	56.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.71;DP=4007;ExcessHet=0.0000;FS=16.292;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.46;MQRankSum=-6.379e+00;QD=0.25;ReadPosRankSum=0.083;SOR=1.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,17:229:71:0|1:1018239_G_GGACC:71,0,8813:1018239	20	0	1	0
chr11	1074916	1074916	A	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	399	1112	10	1	0	12	0.00536673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.00159744	0.0041	0	0.0097	0	0	0.0011	0.0208	0.0086	0.0007568	117	154602	rs369470505	0.0006	0.0006	0.0004	0.0007	0.0053	0.0005	0.0005	0.0049	0.0047	3.501e-05	0.0007	4.25e-05	0	0.0001	0.0039	0.0002	0.0009	0.0053	0.0006	0.0006	0.0006	0.0006	0.0031	0.0005	0.0005	0.0020	0.0018	9.624e-05	0	0.0027	0	0	0	0	0.0005	0.0009	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	412.98	34	chr11	1074916	.	A	G	412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.430e-01;DP=727;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.07;ReadPosRankSum=1.69;SOR=0.765	GT:AD:DP:GQ:PL	0/1:24,17:41:99:427,0,646	20	0	1	0
chr11	1078482	1078482	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.000399361	0.0003	0.0083	0	0	0	0	0	0	6.47e-05	10	154602	rs374455842	9.876e-05	0.0001	0.0001	9.342e-05	0.0025	8.527e-05	7.992e-05	0.0021	0.0019	0.0025	8.204e-05	0	0	5.892e-05	0	3.606e-05	0.0001	5.023e-05	0.0008	0.0008	0.0009	0.0007	0.0027	0.0007	0.0006	0.0023	0.0021	0.0027	0	0.0002	0	0	0	0	7.35e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1333.98	37	chr11	1078482	.	C	T	1333.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=860;ExcessHet=0.0000;FS=0.816;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=1.75;SOR=0.567	GT:AD:DP:GQ:PL	0/1:40,52:92:99:1348,0,833	20	0	1	0
chr11	1082921	1082921	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	411	1107	4	0	0	4	0.00180343	.	.	3185156	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.44	T	0.236	B	0.262	B	0.578	N	0.996	N	2.22	M	0.3	T	-0.897	T	0.176	T	0.224	0.754	7.992	1.61	0.736	0.273	9.525	0.181	0.0317529260588	0.0043	0.000998403	0.0040	0.0016	0.0009	0	0.0023	0.0064	0.0023	0.0012	0.0036804	569	154602	rs41442048	0.0046	0.0046	0.0046	0.0045	0.0055	0.0045	0.0044	0.0054	0.0053	0.0007	0.0006	0.0015	0	0.0021	0	0.0055	0.0045	0.0015	0.0032	0.0032	0.0033	0.0030	0.0055	0.0029	0.0028	0.0051	0.0049	0.0008	0.0164	0.0010	0.0017	0	0.0023	0	0.0055	0.0028	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2847.11	34	chr11	1082921	.	C	G	2847.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.020e-01;DP=890;ExcessHet=0.1072;FS=0.556;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=0.476;SOR=0.786	GT:AD:DP:GQ:PL	0/1:43,62:105:99:1513,0,1019	19	0	2	0
chr11	1095810	1095810	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	501	1019	1	0	1	2	0.000490436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1377767551	0.0001	9.815e-05	7.886e-05	0.0001	0.0010	9.058e-05	8.553e-05	0.0008	0.0007	0	0.0005	0	2.937e-05	0	0.0005	2.225e-05	0.0003	0.0010	0.0003	0.0003	0.0003	0.0002	0.0020	0.0002	0.0002	0.0014	0.0012	2.697e-05	0	0.0020	0	0.0002	0	0	4.642e-05	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2260.98	74	chr11	1095810	.	C	A	2260.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=3126;ExcessHet=0.0000;FS=0.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.79;MQRankSum=1.87;QD=10.09;ReadPosRankSum=-2.247e+00;SOR=0.630	GT:AD:DP:GQ:PL	0/1:123,101:224:99:2275,0,2756	20	0	1	0
chr11	1095948	1095948	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	143278.47	224	chr11	1095948	.	C	G,*	143278.47	.	AC=40,1;AF=0.952,0.024;AN=42;BaseQRankSum=1.49;DP=4120;ExcessHet=0.0000;FS=1.823;InbreedingCoeff=-0.0244;MLEAC=40,1;MLEAF=0.952,0.024;MQ=54.83;MQRankSum=1.39;QD=32.74;ReadPosRankSum=1.46;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:8,178,0:186:99:1|1:1095948_C_G:7138,347,0,7161,534,7349:1095948	0	19	1	0
chr11	1095999	1095999	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	158783.66	219	chr11	1095999	.	A	T,C,*	158783.66	.	AC=40,1,1;AF=0.952,0.024,0.024;AN=42;BaseQRankSum=0.638;DP=4365;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,1,1;MLEAF=0.952,0.024,0.024;MQ=58.57;MQRankSum=11.29;QD=24.86;ReadPosRankSum=-1.695e+00;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,225,0,0:225:99:1|1:1095948_C_G:8884,675,0,8884,675,8884,8884,675,8884,8884:1095948	0	19	0	0
chr11	1096086	1096086	G	0	exonic	MUC2	.	.	.	.	.	566	673	252	7	24	290	0.165012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	16587.35	478	chr11	1096086	.	G	C,*	16587.35	.	AC=7,4;AF=0.167,0.095;AN=42;BaseQRankSum=-3.100e-01;DP=7824;ExcessHet=0.0338;FS=4.192;InbreedingCoeff=0.3842;MLEAC=7,4;MLEAF=0.167,0.095;MQ=56.40;MQRankSum=3.42;QD=7.73;ReadPosRankSum=-7.470e-01;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:148,43,33:224:99:.:.:1919,148,4422,0,3386,6022	13	0	4	0
chr11	1096141	1096168	CCTGACACCCATCACCACCACCACTACG	0	exonic	MUC2	.	.	.	.	.	463	999	52	0	8	60	0.0253659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	11410.69	566	chr11	1096141	.	CCTGACACCCATCACCACCACCACTACG	C,*,CGACACCCATCACCACCACCACTACG	11410.69	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=0.837;DP=9083;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0413;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=56.99;MQRankSum=-2.825e+00;QD=4.13;ReadPosRankSum=0.431;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:225,93,49,0:367:99:0|1:1096089_C_*:3052,0,9454,1969,7029,10712,3795,9389,10892,13126:1096089	13	0	5	1
chr11	1096142	1096143	CT	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	3.152e-05	0.0001	0	0.0005	0.0002	0.0002	0.0003	2.72e-05	0.0002	0.0007	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	7.632e-05	0	0.0004	0	0.0002	0.0002	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	11410.69	566	chr11	1096141	.	CCTGACACCCATCACCACCACCACTACG	C,*,CGACACCCATCACCACCACCACTACG	11410.69	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=0.837;DP=9083;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0413;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=56.99;MQRankSum=-2.825e+00;QD=4.13;ReadPosRankSum=0.431;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:225,93,49,0:367:99:0|1:1096089_C_*:3052,0,9454,1969,7029,10712,3795,9389,10892,13126:1096089	13	0	5	1
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	37726.02	456	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	T,*	37726.02	.	AC=12,8;AF=0.286,0.190;AN=42;BaseQRankSum=2.69;DP=11682;ExcessHet=26.8223;FS=0.000;InbreedingCoeff=-0.7182;MLEAC=12,8;MLEAF=0.286,0.190;MQ=57.74;MQRankSum=-5.520e+00;QD=5.63;ReadPosRankSum=-1.130e+00;SOR=0.704	GT:AD:DP:GQ:PL	0/2:101,67,144:312:99:5217,2967,8947,0,1155,5819	2	0	12	0
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	2478.81	456	chr11	1096155	.	C	*,G	2478.81	.	AC=17,2;AF=0.425,0.050;AN=40;BaseQRankSum=1.10;DP=11237;ExcessHet=40.9761;FS=0.000;InbreedingCoeff=-0.8455;MLEAC=18,2;MLEAF=0.450,0.050;MQ=56.37;MQRankSum=-1.489e+00;QD=0.42;ReadPosRankSum=-3.800e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,144,0:312:99:.:.:5217,0,5819,5863,5259,11928	1	0	17	1
chr11	1096155	1096155	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362776823	0.0019	0.0052	0.0019	0.0019	0.0094	0.0018	0.0018	0.0083	0.0079	0.0094	0.0017	0.0027	6.019e-05	0.0067	0.0025	0.0016	0.0033	0.0002	0.0022	0.0038	0.0019	0.0025	0.0061	0.0020	0.0019	0.0054	0.0051	0.0061	0	0.0010	0.0004	0	0.0006	0	0.0006	0.0032	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.475	2478.81	456	chr11	1096155	.	C	*,G	2478.81	.	AC=17,2;AF=0.425,0.050;AN=40;BaseQRankSum=1.10;DP=11237;ExcessHet=40.9761;FS=0.000;InbreedingCoeff=-0.8455;MLEAC=18,2;MLEAF=0.450,0.050;MQ=56.37;MQRankSum=-1.489e+00;QD=0.42;ReadPosRankSum=-3.800e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,144,0:312:99:.:.:5217,0,5819,5863,5259,11928	1	0	17	1
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	5334.59	473	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*,T	5334.59	.	AC=10,4;AF=0.313,0.125;AN=32;BaseQRankSum=2.94;DP=10251;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.6141;MLEAC=12,5;MLEAF=0.375,0.156;MQ=57.71;MQRankSum=-5.342e+00;QD=1.04;ReadPosRankSum=-1.810e+00;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:200,67,92:359:99:0|1:1096089_C_*:3024,954,8935,0,5567,9863:1096089	2	0	10	5
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5333	9964.82	473	chr11	1096180	.	C	A,*	9964.82	.	AC=3,13;AF=0.100,0.433;AN=30;BaseQRankSum=1.20;DP=9719;ExcessHet=11.8260;FS=0.000;InbreedingCoeff=-0.6114;MLEAC=4,16;MLEAF=0.133,0.533;MQ=55.18;MQRankSum=-5.213e+00;QD=2.11;ReadPosRankSum=-3.960e-01;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:101,52,159:312:99:.:.:6098,4589,9392,0,1895,3999	0	1	1	6
chr11	1096664	1096664	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	61688.6	93	chr11	1096664	.	T	C,*	61688.6	.	AC=40,2;AF=0.952,0.048;AN=42;DP=2147;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=53.76;QD=30.39;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,33,0:33:99:.:.:988,99,0,988,99,988	0	19	0	0
chr11	1096735	1096735	G	0	exonic	MUC2	.	.	.	.	.	77	124	16	7	2	32	0.107914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	1024.05	19	chr11	1096735	.	G	*,A	1024.05	.	AC=1,7;AF=0.056,0.389;AN=18;BaseQRankSum=2.66;DP=578;ExcessHet=6.7594;FS=42.548;InbreedingCoeff=-0.2647;MLEAC=2,11;MLEAF=0.111,0.611;MQ=49.97;MQRankSum=-7.400e-01;QD=5.25;ReadPosRankSum=0.358;SOR=1.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:8,0,6:14:3:.:.:73,83,96,0,14,3	1	0	1	12
chr11	1097355	1097404	CGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACC	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	708	759	46	0	9	55	0.0294118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.345e-05	0	0	0	0	0.0001	0	0	.	.	.	.	0.0044	0.0014	0.0053	0.0038	0.0111	0.0041	0.0040	0.0058	0.0047	0.0065	0.0024	0.0050	0.0068	0.0020	0.0111	0.0052	0.0054	0.0014	0.0036	0.0023	0.0032	0.0039	0.0156	0.0026	0.0022	0.0028	0.0017	0.0046	0.0200	0	0.0034	0.0048	0.0116	0	0.0027	0	0.0156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	1196.39	88	chr11	1097354	.	TCGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACC	T	1196.39	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.205;DP=2532;ExcessHet=0.0000;FS=4.408;InbreedingCoeff=-0.0637;MLEAC=1;MLEAF=0.028;MQ=32.32;MQRankSum=1.15;QD=5.13;ReadPosRankSum=-2.198e+00;SOR=0.367	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:170,63:233:99:.:.:1209,0,6647	17	0	1	3
chr11	1097377	1097377	T	0	exonic	MUC2	.	.	.	.	.	706	772	41	0	3	44	0.0258675	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1225.14	90	chr11	1097377	.	T	C,*	1225.14	.	AC=6,1;AF=0.273,0.045;AN=22;BaseQRankSum=2.86;DP=2345;ExcessHet=2.5830;FS=30.158;InbreedingCoeff=-0.4001;MLEAC=9,2;MLEAF=0.409,0.091;MQ=29.98;MQRankSum=-1.032e+00;QD=2.03;ReadPosRankSum=-2.380e-01;SOR=2.410	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:89,14,39:142:99:0|1:1097377_T_*:678,639,4048,0,2591,3489:1097377	4	0	6	10
chr11	1097397	1097397	C	0	exonic	MUC2	.	.	.	.	.	683	731	102	3	3	111	0.0687898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	2445.2	75	chr11	1097397	.	C	T,*	2445.2	.	AC=3,1;AF=0.083,0.028;AN=36;BaseQRankSum=-2.256e+00;DP=2418;ExcessHet=0.6776;FS=16.908;InbreedingCoeff=-0.1507;MLEAC=3,1;MLEAF=0.083,0.028;MQ=32.67;MQRankSum=2.33;QD=6.75;ReadPosRankSum=-1.210e-01;SOR=0.563	GT:AD:DP:GQ:PL	0/2:95,12,39:146:99:650,801,4447,0,2868,4033	14	0	3	3
chr11	1097399	1097399	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	41.06	75	chr11	1097399	.	C	*,T	41.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=2.12;DP=2414;ExcessHet=0.1072;FS=0.607;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=33.63;MQRankSum=1.39;QD=0.19;ReadPosRankSum=4.07;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:110,39,2:151:99:.:.:634,0,4443,1004,3707,5305	19	0	1	0
chr11	1097399	1097399	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.001	B	0.0	B	.	.	1.000	N	.	.	2.56	T	-0.938	T	0.012	T	0.223	-0.077	3.622	-2.88	-0.314	0.230	3.424	0.013	.	.	.	0.0090	0.0016	0.0106	0	0.0099	0.0141	0.0057	0.0072	.	.	.	rs1431346206	0.0021	0.0071	0.0023	0.0019	0.0028	0.0020	0.0019	0.0026	0.0025	0.0004	0.0007	0.0017	0	0.0024	0.0013	0.0028	0.0023	0.0009	0.0065	0.0098	0.0071	0.0058	0.0124	0.0060	0.0058	0.0114	0.0109	0.0013	0.0034	0.0043	0.0084	0	0.0024	0	0.0124	0.0061	0.0020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	41.06	75	chr11	1097399	.	C	*,T	41.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=2.12;DP=2414;ExcessHet=0.1072;FS=0.607;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=33.63;MQRankSum=1.39;QD=0.19;ReadPosRankSum=4.07;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:110,39,2:151:99:.:.:634,0,4443,1004,3707,5305	19	0	1	0
chr11	1097404	1097404	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	725	773	23	0	1	24	0.014659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0220	0.0089	0	0.0172	0.0135	0.0152	0.0312	0.0510	0.0002458	38	154602	rs1263995397	0.0102	0.0083	0.0109	0.0095	0.0188	0.0098	0.0096	0.0123	0.0121	0.0056	0.0066	0.0112	0.0034	0.0078	0.0188	0.0129	0.0119	0.0030	0.0079	0.0098	0.0081	0.0076	0.0102	0.0071	0.0068	0.0089	0.0084	0.0045	0.0112	0.0069	0.0055	0.0088	0.0089	0	0.0102	0.0089	0.0087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1875	3071.46	75	chr11	1097404	.	C	T	3071.46	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-2.806e+00;DP=3012;ExcessHet=0.3300;FS=2.589;InbreedingCoeff=-0.2923;MLEAC=5;MLEAF=0.313;MQ=33.16;MQRankSum=-1.158e+00;QD=7.80;ReadPosRankSum=1.91;SOR=0.787	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:88,41:168:99:.:.:2045,0,2994	5	0	3	13
chr11	1097424	1097492	CGACACCCATCACCACCACCACCACGGTGACCCCAACCCCAACACCCACTGGCACACAGGCCCCAACCC	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	667	841	14	0	0	14	0.00825472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0008	0.0006	0.0004	0.0022	0.0004	0.0004	0.0009	0.0006	0.0012	0.0003	0.0011	0.0009	0.0001	0.0022	0.0005	0.0005	0.0003	0.0007	0.0016	0.0005	0.0008	0.0027	0.0005	0.0004	0.0005	0.0002	0.0006	0.0048	0.0003	0.0010	0.0008	0.0016	0	0.0005	0.0019	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1203.94	75	chr11	1097423	.	ACGACACCCATCACCACCACCACCACGGTGACCCCAACCCCAACACCCACTGGCACACAGGCCCCAACCC	A	1203.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=3444;ExcessHet=0.0000;FS=0.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.57;MQRankSum=-2.989e+00;QD=4.95;ReadPosRankSum=4.55;SOR=0.635	GT:AD:DP:GQ:PL	0/1:196,47:243:99:1218,0,7791	20	0	1	0
chr11	1097430	1097430	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	679	826	5	0	12	17	0.0030175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.991	D	0.326	B	.	.	1.000	N	.	.	2.46	T	-1.026	T	0.028	T	0.154	-0.334	2.416	0.741	0.097	0.436	5.958	0.055	0.0124052184077	.	.	5.906e-05	0.0007	0	0	0	0	0	0	1.29e-05	2	154602	rs1205731830	0.0007	0.0014	0.0007	0.0007	0.0022	0.0006	0.0006	0.0015	0.0012	0.0022	0.0009	0.0010	0.0017	0.0006	0.0011	0.0005	0.0007	0.0005	0.0022	0.0030	0.0023	0.0020	0.0062	0.0019	0.0018	0.0032	0.0024	0.0023	0	0.0024	0.0006	0.0062	0.0016	0	0.0020	0.0043	0.0030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	1115.46	75	chr11	1097430	.	C	A,*	1115.46	.	AC=1,1;AF=0.050,0.050;AN=20;BaseQRankSum=-2.691e+00;DP=3750;ExcessHet=0.1072;FS=3.805;InbreedingCoeff=-0.2174;MLEAC=2,2;MLEAF=0.100,0.100;MQ=36.76;MQRankSum=-1.916e+00;QD=3.12;ReadPosRankSum=4.32;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:116,22,43:181:99:.:.:1387,838,5438,0,3737,4584	8	0	1	11
chr11	1097430	1097430	C	0	exonic	MUC2	.	.	.	.	.	679	826	5	0	12	17	0.0030175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1115.46	75	chr11	1097430	.	C	A,*	1115.46	.	AC=1,1;AF=0.050,0.050;AN=20;BaseQRankSum=-2.691e+00;DP=3750;ExcessHet=0.1072;FS=3.805;InbreedingCoeff=-0.2174;MLEAC=2,2;MLEAF=0.100,0.100;MQ=36.76;MQRankSum=-1.916e+00;QD=3.12;ReadPosRankSum=4.32;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:116,22,43:181:99:.:.:1387,838,5438,0,3737,4584	8	0	1	11
chr11	1097434	1097434	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	709	787	15	0	11	26	0.0094399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0049	0	0	0	0	0	0	4.53e-05	7	154602	rs1324794777	0.0039	0.0035	0.0042	0.0037	0.0047	0.0037	0.0037	0.0044	0.0043	0.0047	0.0026	0.0041	0.0019	0.0034	0.0031	0.0047	0.0045	0.0012	0.0045	0.0056	0.0046	0.0044	0.0055	0.0040	0.0039	0.0047	0.0044	0.0030	0.0041	0.0046	0.0015	0.0055	0.0046	0	0.0055	0.0088	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	3353.75	75	chr11	1097434	.	C	T	3353.75	.	AC=3;AF=0.250;AN=12;BaseQRankSum=-4.019e+00;DP=3924;ExcessHet=0.3300;FS=0.539;InbreedingCoeff=-0.3333;MLEAC=6;MLEAF=0.500;MQ=36.00;MQRankSum=-2.053e+00;QD=7.54;ReadPosRankSum=1.89;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,47:179:99:.:.:1680,0,3444	3	0	3	15
chr11	1097440	1097440	C	0	exonic	MUC2	.	.	.	.	.	667	835	9	0	11	20	0.00536033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1991.87	75	chr11	1097440	.	C	*,G	1991.87	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=-3.254e+00;DP=4019;ExcessHet=0.1072;FS=3.849;InbreedingCoeff=-0.0825;MLEAC=1,1;MLEAF=0.026,0.026;MQ=35.60;MQRankSum=-1.169e+00;QD=6.51;ReadPosRankSum=3.12;SOR=0.506	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:111,43,25:179:99:.:.:1390,0,4566,696,3457,5138	17	0	1	2
chr11	1097440	1097440	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	667	835	9	0	11	20	0.00536033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1231771272	0.0010	0.0012	0.0010	0.0009	0.0012	0.0009	0.0009	0.0011	0.0011	4.237e-05	0.0005	0.0010	0	0.0012	0.0003	0.0012	0.0013	0.0002	0.0008	0.0012	0.0007	0.0009	0.0012	0.0006	0.0006	0.0009	0.0008	0.0003	0	0.0009	0.0004	0	0.0012	0	0.0012	0.0015	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05263	1991.87	75	chr11	1097440	.	C	*,G	1991.87	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=-3.254e+00;DP=4019;ExcessHet=0.1072;FS=3.849;InbreedingCoeff=-0.0825;MLEAC=1,1;MLEAF=0.026,0.026;MQ=35.60;MQRankSum=-1.169e+00;QD=6.51;ReadPosRankSum=3.12;SOR=0.506	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:111,43,25:179:99:.:.:1390,0,4566,696,3457,5138	17	0	1	2
chr11	1097561	1097561	A	0	exonic	MUC2	.	.	.	.	.	747	760	8	1	6	16	0.00653595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	70.26	172	chr11	1097561	.	A	*,T	70.26	.	AC=3,2;AF=0.125,0.083;AN=24;BaseQRankSum=-1.230e+00;DP=3863;ExcessHet=1.3000;FS=0.790;InbreedingCoeff=-0.1465;MLEAC=4,2;MLEAF=0.167,0.083;MQ=53.93;MQRankSum=-6.511e+00;QD=0.08;ReadPosRankSum=-2.930e+00;SOR=0.787	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:101,0,14:115:1:.:.:1,302,2873,0,2571,2529	7	0	3	9
chr11	1098795	1098795	G	0	exonic	MUC2	.	.	.	.	.	679	640	201	0	2	203	0.135719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	9572.22	147	chr11	1098795	.	G	A,*	9572.22	.	AC=7,1;AF=0.194,0.028;AN=36;BaseQRankSum=2.22;DP=3836;ExcessHet=3.7745;FS=1.215;InbreedingCoeff=-0.2250;MLEAC=8,1;MLEAF=0.222,0.028;MQ=35.69;MQRankSum=-3.090e-01;QD=4.86;ReadPosRankSum=0.919;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:176,43,0:219:99:.:.:603,0,5147,1126,5276,6403	10	0	7	3
chr11	1098946	1098948	CAA	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	771	750	1	0	0	1	0.000666223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1410964135	0.0009	0.0025	0.0007	0.0011	0.0010	0.0008	0.0008	0.0009	0.0009	0.0002	0.0004	0.0009	0	0.0028	0	0.0010	0.0009	0.0003	0.0007	0.0011	0.0006	0.0008	0.0017	0.0006	0.0005	0.0006	0.0006	0	0	0.0004	0.0006	0	0.0019	0	0.0009	0.0025	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	589.78	54	chr11	1098945	.	CCAA	C	589.78	.	AC=2;AF=0.050;AN=40;BaseQRankSum=0.234;DP=1469;ExcessHet=0.1128;FS=3.202;InbreedingCoeff=0.1624;MLEAC=2;MLEAF=0.050;MQ=30.84;MQRankSum=0.711;QD=3.91;ReadPosRankSum=-1.172e+00;SOR=0.391	GT:AD:DP:GQ:PL	0/1:52,9:61:99:174,0,2078	18	0	2	1
chr11	1099366	1099435	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	22453.21	278	chr11	1099366	.	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	CGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC,T,*	22453.21	.	AC=8,3,2;AF=0.308,0.115,0.077;AN=26;BaseQRankSum=1.50;DP=6647;ExcessHet=1.2656;FS=0.000;InbreedingCoeff=0.0574;MLEAC=11,4,3;MLEAF=0.423,0.154,0.115;MQ=53.25;MQRankSum=-1.319e+00;QD=10.10;ReadPosRankSum=-2.293e+00;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:87,28,0,181:296:99:.:.:2389,744,2670,2146,2979,4710,0,1403,2820,2816	3	2	3	8
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	99733.73	157	chr11	1099370	.	G	A,*	99733.73	.	AC=36,6;AF=0.857,0.143;AN=42;BaseQRankSum=2.61;DP=6688;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=36,6;MLEAF=0.857,0.143;MQ=54.00;MQRankSum=1.34;QD=23.82;ReadPosRankSum=0.267;SOR=0.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,120,181:301:99:.:.:6836,1588,1082,3454,0,3794	0	15	0	0
chr11	1188970	1188970	C	T	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.C10825T:p.L3609F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1240366632	5.478e-06	4.771e-06	3.979e-06	6.749e-06	0.0003	1.46e-06	4e-07	1.04e-06	3.9e-07	0	0	0	0	0	0.0003	6.28e-06	0	0	1.316e-05	1.313e-05	2.572e-05	0	2.943e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.943e-05	0	0	.	.	.	0.617	0.07518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.09490	.	.	.	.	.	.	.	0.043008894	0.03107	T	.	.	.	.	.	.	.	0.43046518545	0.42661	0.01614912686270799	0.01570	.	.	.	.	.	0.02113	0.16509	T	-0.102037	0.36089	T	-0.384346	0.35214	T	.	.	.	.	.	.	0.06644932	0.14300	0.14199455	0.33796	0.06644932	0.14300	0.14199455	0.33795	-9.547	0.71151	D	.	.	0.338	0.55747	B	.	.	0.127566	0.05237	1.743	0.82953174971998467	0.14463	0.17370	0.19808	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.983964827925931	0.30642	0.067872	0.01466	2	0.086529	0.02451	2	0.05767	0.00357	2	0.083433	0.02327	0	0.143587	0.26943	4.84	-1.45	0.08365	-2.595000	0.00970	-20.000000	0.00162	0.386000	0.20455	0.000000	0.06391	0.000000	0.08366	0.927000	0.46353	0.1072:0.5101:0.0:0.3827	7.026	0.24119	.	.	WxxW domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3213.98	274	chr11	1188970	.	C	T	3213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=5984;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.46;MQRankSum=-1.270e+00;QD=5.68;ReadPosRankSum=-1.409e+00;SOR=0.684	GT:AD:DP:GQ:PL	0/1:419,147:566:99:3228,0,12267	20	0	1	0
chr11	1189853	1189853	A	C	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.A11708C:p.K3903T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1425401973	8.201e-06	0.0001	7.235e-06	9.002e-06	7.213e-05	2.4e-06	1.75e-06	2.806e-05	1.829e-05	0	0	0	0	0	0	0	0	7.213e-05	1.317e-05	6.573e-05	2.577e-05	0	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.472e-05	0	0.0002	.	.	.	0.577	0.08594	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.04426	.	.	.	.	.	.	.	0.070683986	0.10316	T	.	.	.	.	.	.	.	.	.	0.058845599519644284	0.05825	.	.	.	.	.	0.021039	0.16455	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.654	0.18641	T	.	.	0.083	0.08997	B	.	.	0.139062	0.05334	1.820	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.390000	0.07392	-1.816000	0.04673	-2.565000	0.00244	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2784.98	274	chr11	1189853	.	A	C	2784.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.60;DP=8601;ExcessHet=0.0000;FS=3.820;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.69;MQRankSum=-7.164e+00;QD=2.97;ReadPosRankSum=-7.746e+00;SOR=1.115	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:804,135:939:99:0|1:1189853_A_C:2799,0,32799:1189853	20	0	1	0
chr11	1189864	1189864	G	T	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.G11719T:p.A3907S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.52e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.813	0.03910	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.04188	.	.	.	.	.	.	.	0.046476483	0.03843	T	.	.	.	.	.	.	.	.	.	0.05192352019149009	0.05134	.	.	.	.	.	0.029493	0.21121	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.013	0.54129	T	.	.	0.088	0.11654	B	.	.	-1.145090	0.00589	0.015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.712000	0.00433	-20.000000	0.00162	-6.873000	0.00002	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	867.98	274	chr11	1189864	.	G	T	867.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.05;DP=8564;ExcessHet=0.0000;FS=17.043;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.62;MQRankSum=-7.491e+00;QD=0.95;ReadPosRankSum=-7.079e+00;SOR=3.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:837,81:918:99:0|1:1189853_A_C:882,0,34902:1189853	20	0	1	0
chr11	1242824	1242824	C	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C5944G:p.P1982A,	.	.	405	1100	17	0	0	17	0.00766802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	-0.255	N	2.38	T	-0.998	T	0.021	T	0.041	-0.566	1.447	-4.39	-2.074	-3.476	5.956	0.007	0.00204751639038	.	.	0.0004	0.0010	0.0002	0.0007	0.0005	0.0003	0	0.0004	3.84e-05	1	26028	rs2943508	0.0003	0.0017	0.0003	0.0003	0.0035	0.0003	0.0003	0.0030	0.0028	0.0035	0.0005	0.0030	0.0002	0.0008	0.0005	0.0001	0.0007	0.0003	0.0010	0.0026	0.0010	0.0009	0.0025	0.0008	0.0008	0.0021	0.0019	0.0025	0	0.0007	0.0020	0.0004	0.0005	0	0.0002	0.0010	0.0004	0.451	0.08969	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.31	0.00704	N	2.2	0.18570	T	-0.36	0.13035	N	0.035	0.01004	-0.9975	0.30618	T	0.021	0.08732	T	9	0.011864901	0.00257	T	0.002048	0.03748	T	0.007	0.00512	.	.	0.043077524339	0.03247	0.1337540641421184	0.13299	.	.	0.186318874359	0.00167	T	0.021853	0.16945	T	-0.731628	0.00023	T	-0.864242	0.00798	T	0.00157244652876611	0.00016	T	0.393961	0.09832	T	0.016689507	0.00215	0.03362263	0.02287	0.016689507	0.00215	0.03362263	0.02286	1.354	0.00095	T	.	.	0.048	0.00082	B	.	.	-1.101744	0.00638	0.017	0.5472258365673961	0.05195	0.00061	0.00447	N	AEFI	0.022417	0.01117	N	-1.81075945752716	0.00519	0.02235286	-1.90839802135919	0.00471	0.02086687	0.00724884832373696	0.11420	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.2	-4.39	0.03360	-4.721000	0.00225	-5.355000	0.01750	-1.493000	0.01042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.101:0.5607:0.2191:0.1191	5.956	0.18508	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	627.11	84	chr11	1242824	.	C	G	627.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.203e+00;DP=3187;ExcessHet=0.1072;FS=2.691;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=55.35;MQRankSum=-1.119e+01;QD=0.62;ReadPosRankSum=1.22;SOR=0.459	GT:AD:DP:GQ:PL	0/1:504,92:596:99:589,0,13429	19	0	2	0
chr11	1243366	1243398	GACCACCACCGCCACCACACCTGCAGCCACCAG	-	exonic	MUC5B	.	nonframeshift deletion	MUC5B:NM_002458:exon31:c.6486_6518del:p.T2163_S2173del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0004	0	0	0	0.0003	0	0.0001	0.0002689	7	26028	rs746061288	0.0012	0.0065	0.0013	0.0012	0.0013	0.0012	0.0011	0.0012	0.0012	0.0001	0.0001	0.0011	0	0.0044	0.0005	0.0013	0.0010	0.0003	0.0011	0.0025	0.0012	0.0010	0.0016	0.0010	0.0009	0.0013	0.0012	0.0006	0	0.0003	0.0015	0	0.0025	0	0.0016	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	119.94	84	chr11	1243365	.	TGACCACCACCGCCACCACACCTGCAGCCACCAG	T	119.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.35;DP=2002;ExcessHet=0.0000;FS=3.433;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.58;MQRankSum=-3.261e+00;QD=2.00;ReadPosRankSum=-3.041e+00;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,7:60:99:0|1:1243365_TGACCACCACCGCCACCACACCTGCAGCCACCAG_T:134,0,2204:1243365	20	0	1	0
chr11	1243403	1243455	ACAGTGACTCCCTCCTCTGCCCTAGGGACCACCCACACACCCCCAGTGCCGAA	-	exonic	MUC5B	.	frameshift deletion	MUC5B:NM_002458:exon31:c.6523_6575del:p.T2175Hfs*66,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0003	0	0.0001	0.0002689	7	26028	.	0.0044	0.0062	0.0046	0.0042	0.0049	0.0043	0.0043	0.0048	0.0047	0.0005	0.0005	0.0038	0	0.0102	0.0008	0.0049	0.0037	0.0009	0.0011	0.0027	0.0011	0.0010	0.0014	0.0009	0.0009	0.0012	0.0011	0.0006	0	0.0004	0.0012	0	0.0024	0	0.0014	0.0021	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	180.94	84	chr11	1243402	.	CACAGTGACTCCCTCCTCTGCCCTAGGGACCACCCACACACCCCCAGTGCCGAA	C	180.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.391;DP=1592;ExcessHet=0.0000;FS=4.067;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.01;MQRankSum=-2.793e+00;QD=4.52;ReadPosRankSum=-1.979e+00;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,7:40:99:0|1:1243365_TGACCACCACCGCCACCACACCTGCAGCCACCAG_T:195,0,1365:1243365	20	0	1	0
chr11	1244763	1244763	G	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G7883T:p.R2628L,	.	.	422	1088	12	0	0	12	0.00548446	.	.	2393987	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.039	B	0.016	B	.	.	1.000	N	0.69	N	2.19	T	-1.039	T	0.031	T	0.11	-0.428	2.008	-3.52	-2.557	-2.538	7.567	0.017	0.000668629977859	.	.	0.0003	0.0003	0.0003	0.0002	0.0002	0.0003	0.0011	0.0002	0.0002846	44	154602	rs201153963	7.285e-05	0.0017	7.796e-05	6.769e-05	0.0002	6.142e-05	5.726e-05	6.437e-05	5.935e-05	8.985e-05	4.497e-05	0	0	0	0.0002	7.767e-05	0.0001	5.809e-05	0.0002	0.0064	0.0002	0.0002	0.0002	0.0001	9.879e-05	0.0001	0.0001	0.0002	0	6.582e-05	0.0003	0	0	0	0.0002	0	0	0.271	0.15984	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.355	0.33814	L	2.01	0.21291	T	-0.48	0.15379	N	0.086	0.06322	-1.0386	0.17740	T	0.031	0.13155	T	9	0.056725234	0.06404	T	6.69E-4	0.00383	T	0.017	0.02790	.	.	0.043077524339	0.03247	0.2921260695239488	0.29125	.	.	0.186647862196	0.00171	T	0.022851	0.17544	T	-0.473443	0.00809	T	-0.736317	0.04047	T	0.029850899699308	0.01967	T	0.178782	0.01763	T	0.03685515	0.04613	0.05646688	0.10095	0.03685515	0.04612	0.05646688	0.10094	1.452	0.00086	T	.	.	0.114	0.22717	B	.	.	-1.223093	0.00508	0.011	0.52013723781534171	0.04668	0.00708	0.02999	N	AEFI	0.059239	0.11175	N	-1.70259080793403	0.00833	0.03600691	-1.8455150810957	0.00624	0.0277433	1.37673941154237E-4	0.05486	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.76	-3.52	0.04383	-3.415000	0.00532	-1.264000	0.05871	-5.321000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2069:0.5233:0.2698:0.0	7.567	0.27054	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	158.11	40	chr11	1244763	.	G	T	158.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.050e-01;DP=2077;ExcessHet=0.1072;FS=1.083;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.58;MQRankSum=-7.083e+00;QD=0.18;ReadPosRankSum=0.330;SOR=0.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:457,36:493:99:0|1:1244763_G_T:121,0,18966:1244763	19	0	2	0
chr11	1244777	1244777	T	C	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.T7897C:p.W2633R,	.	.	424	1086	12	0	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	-0.55	N	2.19	T	-1.007	T	0.017	T	0.056	-1.384	0.025	-2.72	-3.051	0.563	1.026	0.042	0.000436924540565	.	.	0.0002	0.0001	0.0002	0	0.0002	0.0003	0	6.058e-05	3.84e-05	1	26028	rs774768277	6.185e-06	0.0016	4.103e-06	8.288e-06	7.224e-06	2.91e-06	2.11e-06	3.11e-06	2.25e-06	0	0	0	0	1.906e-05	0	7.224e-06	0	0	0.0001	0.0065	0.0001	9.605e-05	0.0002	6.64e-05	5.427e-05	0.0001	9.179e-05	2.442e-05	0	6.585e-05	0	0	9.964e-05	0	0.0002	0	0	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	2.0	0.21473	T	-0.82	0.22508	N	0.039	0.01274	-1.0070	0.27850	T	0.017	0.06950	T	9	0.051469415	0.05033	T	4.37E-4	0.00099	T	0.042	0.11227	.	.	0.043077524339	0.03247	0.3131512029563216	0.31228	.	.	0.183986455202	0.00136	T	0.022518	0.17347	T	-0.355514	0.04390	T	-0.748448	0.03546	T	0.0561389739529774	0.06547	T	0.09979	0.00741	T	0.122071005	0.28693	0.10221244	0.24491	0.122071005	0.28693	0.10221244	0.24490	-5.564	0.42462	T	.	.	0.073	0.04681	B	.	.	0.271837	0.06494	2.973	0.31848576285588981	0.01816	0.00106	0.00678	N	AEFI	0.024663	0.01565	N	-1.89331361441333	0.00354	0.01522118	-1.98516358587488	0.00329	0.01452942	6.91002621139919E-4	0.07622	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.36	-2.72	0.05616	-0.553000	0.06104	-9.992000	0.00752	-1.543000	0.00974	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1397:0.3105:0.2348:0.315	1.026	0.01433	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	157.11	40	chr11	1244777	.	T	C	157.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.410e-01;DP=1612;ExcessHet=0.1072;FS=1.074;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.72;MQRankSum=-7.105e+00;QD=0.19;ReadPosRankSum=-1.037e+00;SOR=0.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:434,33:467:75:0|1:1244763_G_T:75,0,17974:1244763	19	0	2	0
chr11	1245213	1245213	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C8333T:p.T2778I,	.	.	613	907	2	0	0	2	0.00110132	.	.	3415712	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.898	P	0.177	B	.	.	1.000	N	1.78	L	2.31	T	-1.038	T	0.037	T	0.065	-0.487	1.759	-0.087	-0.037	-0.072	5.098	0.023	0.000966906910766	.	.	0.0003	0.0019	0	0.0008	0	0.0002	0	0.0003	0.0002305	6	26028	rs201587515	0.0010	0.0081	0.0010	0.0010	0.0029	0.0010	0.0010	0.0025	0.0023	0.0029	0.0004	0.0008	0.0002	0.0048	0.0002	0.0009	0.0009	0.0004	0.0018	0.0047	0.0019	0.0016	0.0025	0.0016	0.0015	0.0021	0.0020	0.0025	0	0.0004	0.0022	0	0.0022	0	0.0019	0.0005	0.0007	0.008	0.58626	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.155	0.29575	L	2.13	0.19588	T	-0.79	0.21860	N	0.071	0.04426	-1.0382	0.17863	T	0.037	0.15986	T	9	0.023375303	0.00610	T	9.67E-4	0.01003	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.30675158290467086	0.30588	.	.	0.274089097977	0.06681	T	0.022435	0.17299	T	-0.348367	0.04831	T	-0.738181	0.03968	T	0.0122050581929686	0.00196	T	0.266473	0.04381	T	0.07363307	0.16468	0.0682227	0.14220	0.07363307	0.16467	0.0682227	0.14219	-3.095	0.11239	T	.	.	0.122	0.25462	B	.	.	0.137309	0.05316	1.808	0.59959044339541645	0.06348	0.01338	0.04604	N	AEFI	0.033206	0.03894	N	-0.727413001277045	0.15253	0.7671319	-0.975088836857857	0.10346	0.5205271	7.79414524778878E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	0.968	-0.087	0.13014	-0.997000	0.03816	0.217000	0.16029	0.394000	0.20511	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.7768:0.0:0.2232	5.098	0.14079	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	601.11	36	chr11	1245213	.	C	T	601.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.280e-01;DP=844;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=31.78;MQRankSum=-2.198e+00;QD=6.26;ReadPosRankSum=-1.310e+00;SOR=0.765	GT:AD:DP:GQ:PL	0/1:43,9:52:99:211,0,1747	19	0	2	0
chr11	1247967	1247967	T	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.T11087A:p.L3696Q,	.	.	418	1095	8	1	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.008	B	0.001	B	.	.	1.000	N	1.04	L	2.44	T	-1.026	T	0.026	T	0.149	-0.160	3.219	-3.96	-2.656	-1.501	3.623	0.010	0.00130567419808	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs200634059	0.0002	0.0014	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	2.992e-05	2.239e-05	0.0002	0	0.0016	0	0.0001	0.0002	0.0001	0.0003	0.0022	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0001	0	0.0001	0.0006	0	0.0012	0	0.0004	0	0	0.677	0.04469	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.7	0.43825	L	2.27	0.17431	T	-0.77	0.21429	N	0.153	0.15749	-1.0257	0.21853	T	0.026	0.10954	T	9	0.063252956	0.08211	T	0.001306	0.01809	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.4561208433612859	0.45530	.	.	0.202009737492	0.00517	T	0.017989	0.14581	T	-0.347562	0.04882	T	-0.737025	0.04017	T	0.0346272595397258	0.02744	T	0.470553	0.13922	T	0.08773653	0.20442	0.07224727	0.15564	0.08773653	0.20441	0.07224727	0.15564	-5.376	0.40688	T	.	.	0.085	0.10400	B	.	.	-0.215227	0.03013	0.458	0.55347902546256733	0.05324	0.00552	0.02527	N	AEFI	0.049393	0.08528	N	-1.75707923278808	0.00659	0.02842352	-1.90214830955848	0.00485	0.02147955	8.7084895263696E-4	0.07931	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.98	-3.96	0.03833	-1.606000	0.02175	-1.921000	0.04493	-1.278000	0.01271	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1713:0.2842:0.0:0.5444	3.623	0.07646	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	535.98	75	chr11	1247967	.	T	A	535.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.560e-01;DP=1499;ExcessHet=0.0000;FS=2.231;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.32;MQRankSum=-5.118e+00;QD=2.88;ReadPosRankSum=1.57;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,26:186:99:0|1:1247967_T_A:550,0,6563:1247967	20	0	1	0
chr11	1247975	1247975	A	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.A11095G:p.T3699A,	.	.	422	1091	8	1	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.01	B	0.004	B	.	.	1.000	N	0.805	L	2.05	T	-1.024	T	0.027	T	0.079	-0.727	0.886	-5.64	-4.502	-9.030	1.908	0.016	0.00206599972394	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201830673	0.0002	0.0015	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	2.992e-05	2.24e-05	0.0002	0	0.0016	0.0002	0.0001	0.0002	9.315e-05	0.0003	0.0021	0.0003	0.0004	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	0	0.0001	0.0003	0	0.0012	0	0.0003	0	0.0004	0.076	0.34269	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.835	0.21042	L	1.97	0.22067	T	-0.05	0.07736	N	0.037	0.01135	-1.0235	0.22573	T	0.027	0.11397	T	9	0.028978825	0.01026	T	0.002066	0.03775	T	0.016	0.02506	.	.	0.043077524339	0.03247	0.3564674410192791	0.35560	.	.	0.209255039692	0.00780	T	0.02129	0.16605	T	-0.356657	0.04322	T	-0.750089	0.03482	T	0.0880673557329466	0.10986	T	0.429357	0.11628	T	0.027399968	0.01926	0.03371914	0.02313	0.027399968	0.01925	0.03371914	0.02313	-5.817	0.44722	T	.	.	0.072	0.04159	B	.	.	-0.596247	0.01582	0.106	0.21294764149883202	0.00805	0.00237	0.01320	N	AEFI	0.043690	0.06936	N	-2.65331805414328	0.00007	0.0003049135	-2.77925892932195	0.00005	0.0002279892	0.949272003443495	0.27839	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.82	-5.64	0.02269	-1.644000	0.02104	-4.482000	0.02134	-0.998000	0.01821	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2353:0.2501:0.3788:0.1357	1.908	0.03082	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	497.98	75	chr11	1247975	.	A	G	497.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.950e-01;DP=1485;ExcessHet=0.0000;FS=3.343;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.89;MQRankSum=-5.336e+00;QD=2.74;ReadPosRankSum=3.98;SOR=0.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,24:182:99:0|1:1247967_T_A:512,0,6562:1247967	20	0	1	0
chr11	1247990	1247990	-	CA	exonic	MUC5B	.	frameshift insertion	MUC5B:NM_002458:exon31:c.11110_11111insCA:p.E3704Afs*29,	.	.	421	1092	8	1	0	10	0.00455789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1280607510	0.0002	0.0015	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	2.992e-05	2.239e-05	0.0002	0	0.0016	0	0.0001	0.0002	0.0001	0.0003	0.0022	0.0003	0.0004	0.0004	0.0003	0.0002	0.0003	0.0003	0.0001	0	0.0001	0.0003	0	0.0011	0	0.0004	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	497.08	75	chr11	1247990	.	G	GCA	497.08	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.030e+00;DP=1616;ExcessHet=0.0000;FS=3.401;InbreedingCoeff=-0.0316;MLEAC=1;MLEAF=0.024;MQ=52.95;MQRankSum=-5.078e+00;QD=2.86;ReadPosRankSum=4.29;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,23:174:99:0|1:1247967_T_A:511,0,6271:1247967	20	0	1	0
chr11	1247992	1247993	GT	-	exonic	MUC5B	.	frameshift deletion	MUC5B:NM_002458:exon31:c.11112_11113del:p.E3704Dfs*233,	.	.	424	1089	8	1	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1250894594	0.0002	0.0018	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	2.999e-05	2.241e-05	0.0002	0	0.0015	0	0.0001	0.0003	0.0001	0.0004	0.0023	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0003	0.0001	0	0.0001	0.0003	0	0.0012	0	0.0005	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	500.22	75	chr11	1247991	.	AGT	A	500.22	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.033e+00;DP=1614;ExcessHet=0.0000;FS=3.385;InbreedingCoeff=-0.0356;MLEAC=1;MLEAF=0.024;MQ=52.75;MQRankSum=-4.991e+00;QD=2.89;ReadPosRankSum=4.17;SOR=1.018	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,23:173:99:0|1:1247967_T_A:514,0,6218:1247967	20	0	1	0
chr11	1248015	1248015	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11135T:p.P3712L,	.	.	425	1088	8	1	0	10	0.00457457	.	.	2806586	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.056	B	0.007	B	.	.	1.000	N	1.245	L	2.29	T	-1.022	T	0.040	T	0.092	0.559	7.020	1.16	0.010	.	7.448	0.024	0.00163941383286	.	.	0.0001	0.0001	8.655e-05	0.0009	0	3.045e-05	0	0	6.5e-06	1	154602	rs768796024	0.0004	0.0058	0.0004	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	9.036e-05	6.747e-05	0.0002	0.0005	0.0025	0.0009	0.0003	0.0003	0.0003	0.0006	0.0031	0.0007	0.0006	0.0008	0.0005	0.0005	0.0006	0.0006	0.0003	0	0.0003	0.0003	0.0006	0.0016	0	0.0008	0	0.0006	0.483	0.08164	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.415	0.35607	L	2.16	0.19166	T	-1.73	0.41046	N	0.059	0.03069	-1.0216	0.23195	T	0.040	0.17149	T	9	0.025567085	0.00747	T	0.001639	0.02676	T	0.024	0.04979	.	.	0.043077524339	0.03247	0.41931647305188957	0.41847	.	.	0.244248837233	0.03186	T	0.021356	0.16647	T	-0.64035	0.00083	T	-0.766709	0.02878	T	0.0179423793737533	0.00520	T	0.351565	0.07865	T	0.018587694	0.00381	0.036532283	0.03119	0.018587694	0.00381	0.036532283	0.03119	-6.192	0.47858	T	.	.	0.137	0.29860	B	.	.	0.153092	0.05450	1.920	0.81010241590012655	0.13476	0.00591	0.02650	N	AEFI	0.032740	0.03755	N	-0.961840334933017	0.09428	0.4461714	-1.04850934845842	0.08738	0.4311007	1.3978619616351E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.27	1.16	0.19936	-4.892000	0.00202	-2.513000	0.03663	-0.385000	0.05372	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6728:0.0:0.3272	7.448	0.26395	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	623.8	75	chr11	1248015	.	C	T	623.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-7.600e-01;DP=1574;ExcessHet=0.1072;FS=2.366;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=50.81;MQRankSum=-4.600e+00;QD=2.27;ReadPosRankSum=1.04;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,23:150:99:0|1:1247967_T_A:584,0,5212:1247967	18	0	2	1
chr11	1248063	1248063	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11183T:p.T3728I,	.	.	428	1088	5	1	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.241	B	0.017	B	.	.	1.000	N	2.005	M	2.3	T	-1.012	T	0.042	T	0.057	-0.092	3.551	-0.879	-0.265	-0.039	2.662	0.022	0.00122992940009	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1470624633	9.68e-05	0.0003	0.0001	9.108e-05	6.962e-05	8.339e-05	7.877e-05	4.911e-05	4.494e-05	2.992e-05	2.238e-05	0	0	0.0011	0	6.129e-05	0.0001	6.962e-05	0.0002	0.0008	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0	0.0002	0	0	0.0003	0	0.0002	0	0	0.081	0.33418	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.965	0.53209	M	2.08	0.20255	T	-1.16	0.29727	N	0.05	0.02179	-1.0119	0.26322	T	0.042	0.17869	T	9	0.10078734	0.18377	T	0.00123	0.01633	T	0.022	0.04323	.	.	0.043077524339	0.03247	0.3793512509731646	0.37850	.	.	0.32149374485	0.13649	T	0.036303	0.24050	T	-0.479231	0.00747	T	-0.743391	0.03749	T	0.0369545324081952	0.03147	T	0.571443	0.20372	T	0.03850974	0.05144	0.044887517	0.05918	0.03850974	0.05143	0.044887517	0.05917	-5.854	0.45042	T	.	.	0.202	0.42678	B	.	.	1.255567	0.16531	12.60	0.91848487515983446	0.21161	0.00551	0.02524	N	AEFI	0.040960	0.06164	N	-0.900183194118483	0.10838	0.5199271	-1.08075534224448	0.08079	0.3957022	8.89922730734236E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.31	-0.879	0.10076	-0.547000	0.06145	-1.619000	0.05048	0.327000	0.19478	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4686:0.3109:0.2205	2.662	0.04722	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	150.98	75	chr11	1248063	.	C	T	150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.600e-02;DP=1304;ExcessHet=0.0000;FS=23.390;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=45.17;MQRankSum=-2.170e+00;QD=1.41;ReadPosRankSum=-2.570e+00;SOR=4.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,13:107:99:0|1:1248063_C_T:165,0,3635:1248063	20	0	1	0
chr11	1248480	1248480	C	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11600G:p.T3867S,	.	.	413	1104	4	1	0	6	0.00271003	.	.	2392311	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.88	P	0.636	P	.	.	1.000	N	2.36	M	2.32	T	-1.050	T	0.074	T	0.078	-0.506	1.681	-3.86	-1.723	-0.262	5.418	0.042	0.000647662265824	.	.	9.993e-05	0.0005	0	0	0	0.0001	0	0	3.84e-05	1	26028	rs760255789	0.0004	0.0053	0.0005	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0001	0.0002	0	0.0021	0	0.0004	0.0005	0.0002	0.0009	0.0041	0.0011	0.0007	0.0014	0.0008	0.0008	0.0012	0.0011	0.0004	0	0.0001	0.0012	0	0.0020	0	0.0014	0.0010	0	0.081	0.33418	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.04	0.26193	L	2.14	0.19450	T	-0.48	0.15379	N	0.212	0.23632	-1.0498	0.14453	T	0.074	0.30023	T	9	0.09746829	0.17557	T	6.48E-4	0.00350	T	0.042	0.11227	.	.	0.043077524339	0.03247	0.1723493437124335	0.17154	.	.	0.269512474537	0.06077	T	0.020581	0.16179	T	-0.339343	0.05434	T	-0.725219	0.04548	T	0.0284981456361258	0.01762	T	0.215678	0.02687	T	0.0470713	0.07985	0.04731589	0.06787	0.0470713	0.07984	0.04731589	0.06786	-8.368	0.63552	D	.	.	0.141	0.31023	B	.	.	-0.178734	0.03201	0.530	0.66509984805745181	0.08080	0.00607	0.02700	N	AEFI	0.028204	0.02443	N	-0.718821208038785	0.15493	0.7812755	-1.05486022119159	0.08606	0.4239504	0.00247832193061608	0.09461	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.93	-3.86	0.03951	-0.124000	0.10571	-2.521000	0.03653	0.292000	0.18798	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4533:0.2628:0.2839	5.418	0.15683	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1037.11	168	chr11	1248480	.	C	G	1037.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.74;DP=3265;ExcessHet=0.1072;FS=77.432;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=52.17;MQRankSum=-6.102e+00;QD=3.39;ReadPosRankSum=-3.064e+00;SOR=4.653	GT:AD:DP:GQ:PL	0/1:144,25:169:99:591,0,5927	19	0	2	0
chr11	1248492	1248492	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11612T:p.T3871M,	.	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.273	B	0.011	B	.	.	1.000	N	2.095	M	2.45	T	-1.012	T	0.032	T	0.04	-0.889	0.461	-2.62	-0.651	-0.311	2.038	0.023	0.000687575980038	.	.	5.828e-05	0	0	0.0001	0	7.551e-05	0	6.06e-05	6.5e-06	1	154602	rs751947149	0.0005	0.0063	0.0005	0.0005	0.0005	0.0004	0.0004	0.0004	0.0004	0.0001	8.987e-05	0.0002	5.038e-05	0.0024	0	0.0005	0.0005	0.0002	0.0014	0.0037	0.0015	0.0012	0.0019	0.0012	0.0012	0.0017	0.0016	0.0003	0	0.0004	0.0018	0	0.0045	0	0.0019	0.0034	0.0006	0.022	0.48642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.845	0.48678	L	2.26	0.17596	T	-0.87	0.23590	N	0.052	0.02366	-1.0122	0.26228	T	0.032	0.13898	T	9	0.05734238	0.06572	T	6.88E-4	0.00418	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.25397836234472576	0.25311	.	.	0.239563554525	0.02751	T	0.025771	0.19207	T	-0.394626	0.02510	T	-0.80463	0.01789	T	0.0286003611331885	0.01777	T	0.434357	0.11884	T	0.01591583	0.00165	0.031194555	0.01675	0.01591583	0.00165	0.031194555	0.01675	-9.699	0.72090	D	.	.	0.129	0.27553	B	.	.	0.270769	0.06484	2.961	0.79329188609127488	0.12692	0.02992	0.07850	N	AEFI	0.038089	0.05339	N	-1.59003640706088	0.01315	0.05726417	-1.74347895408907	0.00958	0.04290252	4.82336702138826E-5	0.03989	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.1	-2.62	0.05793	-0.815000	0.04588	-0.324000	0.09941	-1.771000	0.00664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1337:0.449:0.1321:0.2853	2.038	0.03328	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	248.11	168	chr11	1248492	.	C	T	248.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.50;DP=3290;ExcessHet=0.1072;FS=30.620;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=51.69;MQRankSum=-4.652e+00;QD=0.76;ReadPosRankSum=-2.075e+00;SOR=2.944	GT:AD:DP:GQ:PL	0/1:158,16:174:99:141,0,6496	19	0	2	0
chr11	1248533	1248533	C	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11653A:p.R3885S,	.	.	413	1093	16	0	0	16	0.00726612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.002	B	.	.	1.000	N	0.97	L	1.83	T	-1.008	T	0.048	T	0.057	0.249	5.344	-0.905	-0.099	0.963	4.814	0.028	.	.	0.00978435	0.0067	0.0065	0.0016	0	0.0103	0.0088	0.0079	0.0040	0.0003169	49	154602	rs200531133	0.0004	0.0049	0.0005	0.0004	0.0044	0.0004	0.0004	0.0038	0.0036	0.0044	0.0002	7.75e-05	0	0.0035	0	0.0002	0.0005	0.0001	0.0019	0.0076	0.0019	0.0019	0.0041	0.0017	0.0017	0.0036	0.0034	0.0041	0	0.0007	0.0021	0	0.0024	0	0.0010	0.0019	0.0006	0.145	0.25154	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.665	0.16292	N	1.65	0.27650	T	-0.29	0.11728	N	0.038	0.01203	-1.0076	0.27665	T	0.048	0.20513	T	9	0.004948646	0.00106	T	.	.	.	0.028	0.06331	.	.	0.043077524339	0.03247	0.1732607520863186	0.17246	.	.	0.184156805277	0.00138	T	0.019783	0.15694	T	-0.710598	0.00032	T	-0.791721	0.02118	T	0.0021594767596445	0.00022	T	0.178282	0.01754	T	0.07202977	0.15990	0.055887517	0.09886	0.07202977	0.15990	0.055887517	0.09885	-3.01	0.10289	T	.	.	0.144	0.31733	B	.	.	-2.391566	0.00041	0.001	0.55390806864209352	0.05333	0.01295	0.04505	N	AEFI	0.049243	0.08487	N	-1.10216974858904	0.06605	0.3045007	-1.19833447619775	0.05938	0.2843696	8.94112762282216E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.76	-0.905	0.09992	-3.514000	0.00496	-13.430000	0.00459	-5.602000	0.00009	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1675:0.5686:0.0:0.2639	4.814	0.12722	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1680.11	168	chr11	1248533	.	C	A	1680.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.560e-01;DP=3379;ExcessHet=0.1072;FS=1.588;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=52.33;MQRankSum=-4.313e+00;QD=4.10;ReadPosRankSum=-3.500e-02;SOR=0.855	GT:AD:DP:GQ:PL	0/1:172,39:211:99:1108,0,6980	19	0	2	0
chr11	1249171	1249171	G	0	exonic	MUC5B	.	.	.	.	.	465	977	67	1	12	81	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	1165.22	39	chr11	1249171	.	G	A,*	1165.22	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=2.22;DP=1559;ExcessHet=1.1607;FS=9.281;InbreedingCoeff=-0.1351;MLEAC=3,2;MLEAF=0.071,0.048;MQ=52.13;MQRankSum=-6.057e+00;QD=1.63;ReadPosRankSum=1.43;SOR=1.177	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:105,3,54:162:99:.:.:1936,2207,5969,0,3514,4228	16	0	3	0
chr11	1250412	1250412	G	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G13532T:p.R4511I,	.	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.052	B	0.005	B	.	.	1.000	N	1.04	L	2.46	T	-0.999	T	0.028	T	0.139	-0.290	2.614	-4.24	-1.091	-0.882	7.805	0.012	0.00107642699956	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751101852	0.0005	0.0077	0.0006	0.0005	0.0005	0.0005	0.0005	0.0005	0.0005	9.016e-05	4.489e-05	0.0003	0	0.0025	0.0005	0.0005	0.0005	0.0002	0.0002	0.0018	0.0002	0.0002	0.0002	0.0001	0.0001	9.31e-05	7.203e-05	9.85e-05	0	0	0.0003	0	0.0010	0	0.0002	0	0.0002	0.009	0.57480	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.27	0.17431	T	-0.97	0.25770	N	0.047	0.01911	-0.9993	0.30115	T	0.028	0.11882	T	9	0.05417359	0.05726	T	0.001076	0.01239	T	0.012	0.01476	.	.	0.043077524339	0.03247	0.27429200151051725	0.27342	.	.	0.253197193146	0.04111	T	0.018998	0.15217	T	-0.338961	0.05460	T	-0.72467	0.04573	T	0.0964776352379499	0.11965	T	0.439156	0.12095	T	0.04334099	0.06738	0.080607116	0.18247	0.04334099	0.06738	0.080607116	0.18247	-4.216	0.26983	T	.	.	0.09	0.12607	B	.	.	-0.564133	0.01673	0.119	0.58495695705046724	0.06006	0.00156	0.00937	N	AEFI	.	.	.	-1.78653674221469	0.00579	0.02493796	-1.92881921093145	0.00429	0.01897644	1.93811161106962E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	2.12	-4.24	0.03519	-2.162000	0.01363	-0.593000	0.08311	-1.429000	0.01117	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3724:0.4868:0.1408	7.805	0.28361	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	207.11	182	chr11	1250412	.	G	T	207.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.06;DP=3469;ExcessHet=0.1072;FS=40.245;InbreedingCoeff=-0.0498;MLEAC=2;MLEAF=0.048;MQ=53.48;MQRankSum=-6.611e+00;QD=0.63;ReadPosRankSum=-3.339e+00;SOR=3.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,12:172:22:0|1:1250395_T_C:22,0,6652:1250395	19	0	2	0
chr11	1630364	1630368	AGTCC	0	exonic	KRTAP5-5	.	.	.	.	.	439	687	51	4	341	400	0.0411724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	5209.38	39	chr11	1630364	.	AGTCC	*,A	5209.38	.	AC=9,2;AF=0.214,0.048;AN=42;BaseQRankSum=0.573;DP=3134;ExcessHet=2.2868;FS=0.532;InbreedingCoeff=-0.1085;MLEAC=9,2;MLEAF=0.214,0.048;MQ=57.01;MQRankSum=-2.192e+00;QD=2.91;ReadPosRankSum=-1.810e-01;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,112,0:239:99:0|1:1630355_CCTGCTGCCAGTCCAGCTGCTGTAAGCCTTA_C:3907,0,4931,4289,5268,9557:1630355	11	0	8	0
chr11	1630369	1630395	AGCTGCTGTAAGCCTTACTGCTGCCAG	0	exonic	KRTAP5-5	.	.	.	.	.	437	689	51	4	341	400	0.0410578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	5142.38	39	chr11	1630369	.	AGCTGCTGTAAGCCTTACTGCTGCCAG	*,A	5142.38	.	AC=9,2;AF=0.214,0.048;AN=42;BaseQRankSum=1.23;DP=3144;ExcessHet=2.2868;FS=0.532;InbreedingCoeff=-0.1085;MLEAC=9,2;MLEAF=0.214,0.048;MQ=57.16;MQRankSum=-2.192e+00;QD=2.88;ReadPosRankSum=-3.820e-01;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,112,0:239:99:0|1:1630355_CCTGCTGCCAGTCCAGCTGCTGTAAGCCTTA_C:3907,0,4931,4289,5268,9557:1630355	11	0	8	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	48108.27	39	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	T,*	48108.27	.	AC=16,11;AF=0.381,0.262;AN=42;BaseQRankSum=-2.940e-01;DP=3975;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=16,11;MLEAF=0.381,0.262;MQ=58.70;MQRankSum=-5.308e+00;QD=15.77;ReadPosRankSum=0.914;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,86,136:222:99:.:.:8320,5011,5021,3324,0,4350	3	3	5	0
chr11	3122407	3122407	C	T	exonic	OSBPL5	.	nonsynonymous SNV	OSBPL5:NM_001144063:exon4:c.G241A:p.G81R	.	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	1.0	D	0.000	D	1.000	D	1.955	M	1.16	T	-0.035	T	0.486	T	0.621	4.569	24.8	4.28	2.237	6.997	15.915	0.248	0.210784612349	0.0002	0.000199681	0.0005	0	0.0006	0	0	0.0003	0.0012	0.0017	0.000401	62	154602	rs201350460	0.0002	0.0002	0.0002	0.0003	0.0015	0.0002	0.0002	0.0013	0.0012	5.974e-05	0.0006	0.0014	0	1.878e-05	0.0012	9.623e-05	0.0003	0.0015	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	0.0001	4.812e-05	0	0.0003	0.0009	0	0	0	0.0002	0.0005	0.0006	0.057	0.91255	T	0.104	0.92824	T	1.0	0.90584	D	0.993	0.81110	D	0.000116	0.50451	D	0.081091	0.999999	0.81001	D	2.485	0.72352	M	1.16	0.72678	T	-2.33	0.93974	N	0.699	0.77226	-0.0353	0.81519	T	0.486	0.80431	T	10	0.05830264	0.06833	T	0.210785	0.87270	D	0.248	0.55615	0.33	0.31519	0.857056292576	0.85567	0.39491117035532547	0.39406	0.7076550198	0.61502	0.685954391956	0.65124	T	0.239116	0.63705	T	-0.18009	0.23722	T	-0.061543	0.66224	T	0.328607380390167	0.26169	T	0.928457	0.80429	D	0.1704473	0.37620	0.16487084	0.38170	0.1704473	0.37620	0.16487084	0.38169	-7.643	0.62101	D	.	.	0.318	0.75935	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.272619	0.65018	24.8	0.99933892423806014	0.99535	0.99359	0.94992	D	AEFDGBI	0.879887	0.80614	D	0.572823176853756	0.71481	5.657577	0.525923784555433	0.69741	5.403725	0.999999999999995	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.28	4.28	0.50183	6.992000	0.76004	7.343000	0.58258	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.050000	0.15192	0.0:1.0:0.0:0.0	15.915	0.79294	940	0.13648	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1322.98	38	chr11	3122407	.	C	T	1322.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.020e-01;DP=875;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.19;ReadPosRankSum=1.15;SOR=0.703	GT:AD:DP:GQ:PL	0/1:85,59:144:99:1337,0,2098	20	0	1	0
chr11	3639023	3639023	C	G	exonic	ART5	.	nonsynonymous SNV	ART5:NM_001297668:exon3:c.G596C:p.R199P	.	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.709	P	0.379	B	0.352	N	1.000	N	0.255	N	3.03	T	-1.057	T	0.019	T	0.47	1.782	11.92	-2.78	-0.292	-1.602	0.736	0.083	.	.	0.00559105	0.0082	0	0.0019	0	0	0	0	0.0223	0.0019599	303	154602	rs550234024	0.0013	0.0013	0.0007	0.0019	0.0208	0.0013	0.0013	0.0200	0.0196	6.321e-05	2.772e-05	0	5.577e-05	0	0.0006	9.071e-05	0.0016	0.0208	0.0007	0.0007	0.0004	0.0010	0.0218	0.0006	0.0006	0.0184	0.0171	7.216e-05	0	0	0	0	0	0	0	0.0005	0.0218	0.179	0.22053	T	0.226	0.33894	T	0.001	0.42056	B	0.001	0.43814	B	0.352360	0.04253	N	1.441760	1	0.08975	N	0.805	0.20218	L	3.03	0.12268	T	0.14	0.37759	N	0.176	0.23125	-1.0572	0.12465	T	0.019	0.07893	T	10	0.0029238164	0.00047	T	.	.	.	0.083	0.24192	0.421	0.46365	0.0716867268079	0.06686	0.44726586163586174	0.44644	0.0550484155351	0.06097	0.242885142565	0.03056	T	0.008633	0.07910	T	-0.554105	0.00275	T	-0.55179	0.17155	T	0.0325571467474811	0.02397	T	0.475952	0.14261	T	0.11515167	0.27177	0.10296361	0.24692	0.11515167	0.27177	0.10296361	0.24691	-3.083	0.16000	T	.	.	0.081	0.19194	B	.;.;.;.	.;.;.;.	0.033251	0.04515	1.217	0.96277208317872776	0.29270	0.02071	0.06169	N	AEFDGBI	0.163931	0.29027	N	-1.14583503020039	0.05848	0.2677042	-1.15238080398624	0.06725	0.3246825	0.52328734033285	0.21114	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.87	-2.78	0.05512	-1.588000	0.02209	-12.661000	0.00509	-0.918000	0.02213	0.000000	0.06391	0.000000	0.08366	0.948000	0.49324	0.1562:0.2447:0.2527:0.3464	0.736	0.00904	836	0.38045	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	883.98	33	chr11	3639023	.	C	G	883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.400e-01;DP=1190;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.41;ReadPosRankSum=2.01;SOR=0.679	GT:AD:DP:GQ:PL	0/1:90,48:138:99:898,0,2049	20	0	1	0
chr11	4449430	4449430	A	C	exonic	OR52K2	.	nonsynonymous SNV	OR52K2:NM_001005172:exon1:c.A91C:p.I31L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.985	D	0.946	D	0.006	N	0.999	N	1.31	L	6.51	T	-0.795	T	0.003	T	0.36	0.796	8.189	4.42	1.847	-0.140	5.206	0.149	0.00248912756009	.	0.00139776	0.0007	0	0	0	0	0	0	0.0082	0.0006598	102	154602	rs542324876	0.0004	0.0004	0.0002	0.0006	0.0073	0.0004	0.0004	0.0068	0.0066	0	0	0	0	0	0	3.666e-06	0.0005	0.0073	0.0002	0.0002	7.712e-05	0.0003	0.0067	0.0002	0.0001	0.0048	0.0042	0	0	0	0	0	0	0	0	0	0.0067	0.279	0.15561	T	0.277	0.21880	T	0.985	0.61118	D	0.946	0.68276	D	0.005938	0.32398	N	0.139807	0.999139	0.21587	N	0.275	0.09989	N	6.51	0.00528	T	-0.89	0.24026	N	0.196	0.21580	-0.7950	0.55438	T	0.003	0.00994	T	10	0.007334709	0.00167	T	0.002489	0.04953	T	0.149	0.39377	0.553	0.66995	0.229264304666	0.22521	0.20188545842933694	0.20105	0.0139038463021	0.01327	0.244851380587	0.03245	T	0.00334	0.02748	T	-0.551576	0.00285	T	-0.560371	0.16341	T	0.113342172507575	0.13767	T	0.725927	0.34027	T	0.1423874	0.32769	0.10884087	0.26224	0.1423874	0.32769	0.10884087	0.26223	-5.254	0.39486	T	.	.	0.096	0.15341	B	.	.	2.746602	0.35986	20.1	0.94554103885418139	0.25073	0.16981	0.19636	N	AEFBI	0.094281	0.19065	N	0.0331195711879529	0.43367	2.630995	-0.0382379459116822	0.38003	2.232915	0.999069731505808	0.38343	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.42	4.42	0.52775	-0.102000	0.10926	.	.	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.769000	0.36481	0.6395:0.1837:0.0:0.1768	5.206	0.14616	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4243.98	33	chr11	4449430	.	A	C	4243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=1004;ExcessHet=0.0000;FS=1.380;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=0.019;SOR=0.788	GT:AD:DP:GQ:PL	0/1:144,159:303:99:4258,0,3626	20	0	1	0
chr11	4450194	4450194	C	G	exonic	OR52K2	.	nonsynonymous SNV	OR52K2:NM_001005172:exon1:c.C855G:p.F285L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.048	B	0.078	B	0.000	D	0.587	N	-0.24	N	8.93	T	-1.167	T	0.000	T	0.183	0.744	7.948	2.26	0.406	-1.269	4.829	0.067	0.00371141193869	.	0.00139776	0.0009	0	0	0.0001	0	0	0	0.0068	0.0007827	121	154602	rs560337817	0.0005	0.0005	0.0002	0.0007	0.0071	0.0004	0.0004	0.0067	0.0065	0	0	0	2.519e-05	0	0	5.396e-06	0.0006	0.0071	0.0003	0.0003	0.0001	0.0004	0.0071	0.0002	0.0002	0.0052	0.0046	0	0	6.539e-05	0	0.0002	0	0	0	0.0014	0.0071	0.194	0.20835	T	0.354	0.17268	T	0.048	0.22112	B	0.078	0.28627	B	0.000104	0.50451	D	0.000000	0.587012	0.31052	N	0.175	0.09039	N	8.93	0.00024	T	0.72	0.02099	N	0.074	0.04790	-1.1670	0.00599	T	0.000	0.00075	T	10	0.006433785	0.00146	T	0.003711	0.08589	T	0.067	0.19503	0.299	0.26522	0.0986583533028	0.09354	0.033790001033653844	0.03326	0.00514138524058	0.00452	0.216945379972	0.01141	T	8.66E-4	0.00434	T	-0.643939	0.00079	T	-0.693745	0.06175	T	0.0233480878122097	0.01065	T	0.746525	0.36724	T	0.146451	0.33526	0.09203985	0.21669	0.146451	0.33525	0.09203985	0.21669	-3.685	0.19097	T	.	.	0.514	0.65221	A	.	.	0.637522	0.10061	6.809	0.97405322916670445	0.33795	0.09991	0.15617	N	AEFGBI	0.077683	0.15657	N	-0.841655886380633	0.12255	0.5962891	-0.758088027377505	0.15523	0.8168539	0.963572905986153	0.28700	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.16	2.26	0.27418	-1.135000	0.03337	.	.	0.535000	0.24933	0.002000	0.15269	0.000000	0.08366	0.248000	0.23210	0.0:0.5095:0.2862:0.2044	4.829	0.12793	877	0.30165	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2738.98	33	chr11	4450194	.	C	G	2738.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=1048;ExcessHet=0.0000;FS=2.311;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=0.218;SOR=0.874	GT:AD:DP:GQ:PL	0/1:115,107:222:99:2753,0,2926	20	0	1	0
chr11	4488904	4488904	C	T	exonic	OR52K1	.	nonsynonymous SNV	OR52K1:NM_001005171:exon2:c.C4T:p.L2F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.052	B	0.033	B	0.833	N	1.000	N	0.915	L	1.16	T	-0.999	T	0.037	T	0.164	-0.591	1.351	-8.76	-1.815	-4.083	0.705	0.045	0.0148460034166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.773	0.03354	T	0.779	0.04344	T	0.052	0.22494	B	0.033	0.22329	B	0.833192	0.06954	N	1.116690	0.999999	0.08975	N	0.635	0.15989	N	1.16	0.38073	T	-0.76	0.21215	N	0.071	0.04426	-0.9991	0.30171	T	0.037	0.15899	T	10	0.047613025	0.04102	T	0.014846	0.35231	T	0.045	0.12272	0.215	0.13498	0.0611884634855	0.05136	0.14371815121218293	0.14294	.	.	0.283620834351	0.08002	T	0.001751	0.01176	T	-0.288412	0.09796	T	-0.652061	0.08811	T	0.0666449882505786	0.08172	T	0.332567	0.07018	T	0.040492512	0.05791	0.03574162	0.02884	0.040492512	0.05790	0.03574162	0.02883	-4.337	0.28692	T	.	.	0.059	0.01059	B	.;.	.;.	-1.592832	0.00244	0.004	0.20019671462553745	0.00702	0.00621	0.02743	N	AEFBI	0.023867	0.01392	N	-1.71552709541866	0.00788	0.03404736	-1.84543066948755	0.00624	0.02775362	0.999441884986545	0.39736	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.38	-8.76	0.00718	-4.492000	0.00259	.	.	-0.811000	0.03066	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4067:0.2121:0.1944:0.1868	0.705	0.00856	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2	605.95	69	chr11	4488904	.	C	G,T	605.95	.	AC=5,3;AF=0.125,0.075;AN=40;BaseQRankSum=-2.135e+00;DP=2224;ExcessHet=3.5521;FS=176.401;InbreedingCoeff=-0.2568;MLEAC=5,3;MLEAF=0.125,0.075;MQ=60.00;MQRankSum=0.00;QD=0.71;ReadPosRankSum=0.714;SOR=12.957	GT:AD:DP:GQ:PL	0/2:68,27,33:128:63:85,63,1126,0,925,1047	12	0	5	1
chr11	5225678	5225678	C	G	exonic	HBB	.	nonsynonymous SNV	HBB:NM_000518:exon3:c.G364C:p.E122Q,	Delta-beta thalassemia, Autosomal dominant;Erythremias, beta- (3);Heinz body anemias, beta-, Autosomal dominant;Hereditary persistence of fetal hemoglobin, Autosomal dominant;Methemoglobinemias, beta- (3);Sickle cell anemia, Autosomal recessive;Thalassemia-beta, dominant inclusion-body;Thalassemias, beta-	YES	0	1497	24	1	0	26	0.00860927	.	.	30191	beta_Thalassemia|Hb_D-Los_Angeles|HBB-related_disorder|not_provided|Heinz_body_anemia|Hemoglobin_D_disease|Hb_SS_disease	MONDO:MONDO:0019402,MedGen:C0005283,Orphanet:848|.|MedGen:CN239378|MedGen:C3661900|Human_Phenotype_Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330|MONDO:MONDO:0019537,MedGen:C0272080,Orphanet:90039|MONDO:MONDO:0011382,MedGen:C0002895,OMIM:603903,Orphanet:232	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.01	D	0.174	B	0.007	B	.	.	1.000	N	2.69	M	-3.36	D	0.285	D	0.784	D	0.896	1.164	9.736	4.68	2.589	4.047	15.475	0.575	0.23278745787	0.0002	0.000599042	0.0007	0	0.0003	0	0	0.0001	0.0022	0.0043	0.000608	94	154602	rs33946267	0.0005	0.0005	0.0003	0.0006	0.0051	0.0004	0.0004	0.0047	0.0045	5.974e-05	0.0001	0	0	0	0.0019	0.0002	0.0004	0.0051	0.0002	0.0002	0.0001	0.0003	0.0044	0.0002	0.0001	0.0029	0.0025	7.22e-05	0	0	0	0	0	0	0.0001	0	0.0044	0.006	0.61437	D	0.109	0.37449	T	0.174	0.28827	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	3.045	0.86684	M	-3.36	0.94067	D	-1.73	0.41046	N	0.509	0.54059	0.285	0.87314	D	0.784	0.92663	D	9	0.017982274	0.00387	T	0.232787	0.88337	D	0.575	0.82799	.	.	0.993264840891	0.99319	0.7264923966125129	0.72593	0.0337626008877	0.03542	0.372132986784	0.21138	T	0.027149	0.19941	T	0.0928782	0.63512	D	0.36159	0.90762	D	0.0634609066813779	0.07702	T	0.866213	0.56644	D	0.3287237	0.55366	0.21583228	0.46188	0.36926448	0.58531	0.18763994	0.42007	-8.299	0.63089	D	0.3426908369855942	0.44034	0.204	0.42877	B	.;.	.;.	3.065211	0.41183	21.3	0.97588656222229542	0.34780	0.90271	0.51315	D	AEFDGBHCI	0.869951	0.79071	D	-0.0666117936946236	0.38864	2.282815	-0.0677246373714052	0.36733	2.141517	0.99999999999992	0.74766	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	4.68	4.68	0.58319	4.942000	0.63247	.	.	0.599000	0.40250	0.984000	0.35821	0.903000	0.28003	0.060000	0.15972	0.0:1.0:0.0:0.0	15.475	0.75199	862	0.33134	Globin;Globin	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	779.98	33	chr11	5225678	.	C	G	779.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.200e-02;DP=778;ExcessHet=0.0000;FS=1.842;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=-1.921e+00;SOR=0.923	GT:AD:DP:GQ:PL	0/1:45,34:79:99:794,0,1100	20	0	1	0
chr11	5632692	5632692	C	T	exonic	TRIM34;TRIM6-TRIM34	.	nonsynonymous SNV	TRIM34:NM_130390:exon1:c.C361T:p.R121W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.641	P	0.212	B	0.098	N	1.000	N	3.21	M	0.94	T	-0.881	T	0.119	T	0.617	2.758	15.18	0.5	0.114	-3.651	0.821	0.188	0.012327584331	0.0002	.	3.306e-05	9.634e-05	0	0.0001	0	3.005e-05	0	0	3.23e-05	5	154602	rs376708057	8.209e-06	8.209e-06	8.168e-06	8.251e-06	2.519e-05	4.38e-06	3.46e-06	2.62e-06	1.68e-06	0	0	0	2.519e-05	3.745e-05	0	6.295e-06	1.656e-05	1.159e-05	3.995e-05	3.949e-05	7.789e-05	0	6.696e-05	1.734e-05	1.142e-05	1.176e-05	6.26e-06	4.909e-05	0	6.696e-05	0	0	0	0	4.429e-05	0	0	0.0	0.91255	D	0.002	0.79402	D	0.459	0.36338	P	0.093	0.35187	B	0.097612	0.20019	N	0.265720	1	0.08975	N	2.83	0.82355	M	0.94	0.43672	T	-5.34	0.91268	D	0.195	0.21449	-0.8812	0.49665	T	0.119	0.41626	T	10	0.16647354	0.31086	T	0.012328	0.30806	T	0.188	0.46444	.	.	0.573547766065	0.57022	0.2995061734583527	0.29863	0.0505892821927	0.07103	0.241839542985	0.02958	T	0.044692	0.26894	T	-0.20565	0.19996	T	-0.35165	0.39015	T	0.511037336532185	0.33036	D	0.818618	0.58533	T	0.33814552	0.56131	0.31571823	0.57556	0.33814552	0.56131	0.31571823	0.57555	-7.38	0.56764	T	.	.	0.176	0.41156	B	.;.;.	.;.;.	2.668032	0.34779	19.72	0.9988048182506355	0.95653	0.05924	0.11878	N	AEFBCI	0.120936	0.23536	N	-0.340696342233994	0.27615	1.516566	-0.45902354898943	0.23292	1.269508	0.999616109075681	0.40981	0.706548	0.73137	0	0.52208	0.09955	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.53	0.5	0.16125	-3.929000	0.00374	.	.	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.1907:0.4017:0.1862:0.2214	0.821	0.01040	835	0.38313	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1832.98	47	chr11	5632692	.	C	T	1832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.898;DP=1032;ExcessHet=0.0000;FS=1.288;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=-7.190e-01;SOR=0.820	GT:AD:DP:GQ:PL	0/1:74,77:151:99:1847,0,1625	20	0	1	0
chr11	5821117	5821125	TTTTCACTC	-	exonic	OR52N2	.	nonframeshift deletion	OR52N2:NM_001005174:exon1:c.782_790del:p.F261_H264delinsY,	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0	0	0.0029	0.0003105	48	154602	rs749353698	0.0004	0.0004	0.0002	0.0006	0.0037	0.0004	0.0004	0.0033	0.0032	0	0	0	0	0	0.0002	5.713e-06	0.0003	0.0037	7.224e-05	7.218e-05	1.285e-05	0.0001	0.0023	3.969e-05	3.126e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4014.94	196	chr11	5821116	.	TTTTTCACTC	T	4014.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.909e+00;DP=3495;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.80;ReadPosRankSum=1.23;SOR=0.704	GT:AD:DP:GQ:PL	0/1:130,109:239:99:4029,0,4915	20	0	1	0
chr11	6390705	6390711	TGCTGGC	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,113,0,0,0,0:114:99:.:.:3329,335,0,3331,339,3335,3331,339,3335,3335,3331,339,3335,3335,3335,3331,339,3335,3335,3335,3335	0	5	0	0
chr11	6390705	6390705	-	GGC	exonic	SMPD1	.	nonframeshift insertion	SMPD1:NM_000543:exon1:c.107_108insGGC:p.V36_L37insA	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	66	5	343	388	720	1839	0.991143	.	.	526543	not_specified|not_provided|Niemann-Pick_disease,_type_B|Niemann-Pick_disease,_type_A	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293|MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.0019	0.0048	0.0047	0.0086	0.0021	0.0111	0.0252	0.0046895	725	154602	rs775568984	0.0048	0.0048	0.0041	0.0055	0.0294	0.0047	0.0046	0.0284	0.0280	0.0030	0.0070	0.0053	0.0069	0.0151	0.0054	0.0022	0.0059	0.0294	0.0053	0.0052	0.0042	0.0063	0.0345	0.0050	0.0048	0.0301	0.0284	0.0029	0	0.0061	0.0041	0.0086	0.0179	0.0221	0.0024	0.0015	0.0345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,113,0,0,0,0:114:99:.:.:3329,335,0,3331,339,3335,3331,339,3335,3335,3331,339,3335,3335,3335,3331,339,3335,3335,3335,3335	0	5	0	0
chr11	10854236	10854236	T	C	exonic	ZBED5	.	nonsynonymous SNV	ZBED5:NM_001143667:exon3:c.A710G:p.K237R	.	.	436	1081	5	0	0	5	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.95	D	0.003	N	0.993	N	2.51	M	2.92	T	-1.082	T	0.071	T	0.29	2.824	15.40	4.09	2.075	2.763	9.738	0.080	0.00736408184198	0.0002	0.000199681	0.0009	0	0.0049	0	0	0	0	0.0020	0.0001423	22	154602	rs369580175	0.0002	0.0002	0.0001	0.0002	0.0018	0.0002	0.0002	0.0016	0.0015	3.165e-05	0.0002	3.972e-05	0	0	0.0011	6.397e-05	0.0004	0.0018	0.0001	0.0001	7.712e-05	0.0002	0.0012	8.663e-05	7.255e-05	0.0005	0.0004	0	0	0.0005	0	0	0	0	7.351e-05	0.0005	0.0012	0.018	0.50676	D	0.128	0.34959	T	0.999	0.77913	D	0.95	0.68788	D	0.003211	0.35270	N	0.000000	0.99306	0.23778	N	2.18	0.61292	M	2.92	0.09915	T	-1.82	0.42763	N	0.236	0.26596	-1.0824	0.06890	T	0.071	0.28904	T	10	0.010513425	0.00234	T	0.007364	0.19523	T	0.080	0.23350	.	.	0.0986583533028	0.09354	0.21053106534678095	0.20969	.	.	0.755830705166	0.75309	T	0.01451	0.12343	T	-0.484504	0.00697	T	-0.474591	0.25023	T	0.0759527155163378	0.09462	T	0.567243	0.20104	T	0.12077316	0.28413	0.11728191	0.28311	0.12077316	0.28413	0.11728191	0.28310	-6.357	0.49173	T	.	.	0.134	0.29751	B	.;.	.;.	3.563634	0.50160	22.9	0.99806798802806673	0.89085	0.74493	0.36443	D	AEGBI	0.177849	0.30510	N	0.520654719582638	0.68311	5.199955	0.446045708390491	0.64464	4.702108	0.999999354566845	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.09	4.09	0.47038	2.739000	0.47083	5.338000	0.48337	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	9.738	0.39564	587	0.69154	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3021.98	92	chr11	10854236	.	T	C	3021.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=982;ExcessHet=0.0000;FS=1.624;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=0.457;SOR=0.830	GT:AD:DP:GQ:PL	0/1:114,111:225:99:3036,0,2987	20	0	1	0
chr11	12294842	12294842	A	0	exonic	MICALCL	.	.	.	.	.	612	397	355	151	7	664	0.452791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	20646.17	38	chr11	12294842	.	A	C,*	20646.17	.	AC=13,3;AF=0.382,0.088;AN=34;BaseQRankSum=1.48;DP=1943;ExcessHet=0.0321;FS=0.000;InbreedingCoeff=0.1821;MLEAC=15,3;MLEAF=0.441,0.088;MQ=59.98;MQRankSum=0.00;QD=20.18;ReadPosRankSum=1.33;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,68,8:76:97:1|0:12294839_CCTA_C:3477,411,97,2188,0,2492:12294839	6	2	6	4
chr11	18247969	18247969	T	C	exonic	SAA2;SAA2-SAA4	.	nonsynonymous SNV	SAA2:NM_001127380:exon2:c.A43G:p.S15G	.	.	424	1069	29	0	0	29	0.0133826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.017	N	1.000	N	.	.	3.35	T	-0.962	T	0.017	T	0.087	-0.006	3.984	2.08	0.510	0.167	4.536	0.019	0.00177383205572	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs712021	0.0002	0.0018	0.0001	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	0	6.772e-05	0	0.0006	0.0004	0	5.609e-05	0.0002	0.0024	0.0005	0.0036	0.0003	0.0006	0.0016	0.0004	0.0003	0.0007	0.0005	0.0006	0	0.0003	0	0.0006	0.0007	0	0.0004	0.0005	0.0016	1.0	0.00964	T	0.654	0.06643	T	0.0	0.02946	B	0.0	0.01387	B	0.017200	0.27786	N	0.327305	1	0.08975	N	-2.83	0.00022	N	2.15	0.19990	T	2.7	0.00304	N	0.133	0.12913	-0.9615	0.38897	T	0.017	0.06950	T	9	0.030165315	0.01143	T	0.001774	0.03012	T	0.019	0.03383	.	.	0.0401082797425	0.02173	0.04139099236084914	0.24331	1.5434244008	0.87773	0.351255208254	0.18106	T	0.075674	0.35233	T	-0.350743	0.04680	T	-0.741595	0.03823	T	0.0246311460941919	0.01225	T	0.184981	0.05950	T	0.028958477	0.02314	0.0413899	0.04694	0.028958477	0.02313	0.0413899	0.04694	-3.826	0.21193	T	.	.	0.047	0.00069	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.457001	0.08270	5.012	0.60941765000311832	0.06586	0.00054	0.00410	N	AEFDGBI	0.047508	0.08007	N	-1.0549573913247	0.07491	0.3481452	-1.03460989437403	0.09029	0.4470526	0.754955816509007	0.23418	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.2	2.08	0.26079	0.227000	0.17575	0.987000	0.23166	-0.808000	0.03092	0.374000	0.25957	0.004000	0.18990	0.035000	0.13729	0.3892:0.5034:0.0:0.1073	4.536	0.11435	862	0.33134	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	74.11	34	chr11	18247969	.	T	C	74.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.25;DP=942;ExcessHet=0.1072;FS=76.986;InbreedingCoeff=-0.0499;MLEAC=2;MLEAF=0.048;MQ=48.11;MQRankSum=-5.092e+00;QD=0.27;ReadPosRankSum=-1.295e+00;SOR=6.739	GT:AD:DP:GQ:PL	0/1:136,15:151:23:23,0,3555	19	0	2	0
chr11	19055676	19055676	A	G	exonic	MRGPRX2	.	nonsynonymous SNV	MRGPRX2:NM_054030:exon2:c.T727C:p.W243R	.	.	427	1082	13	0	0	13	0.00597152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.76	P	0.468	P	0.004	N	1.000	N	2.2	M	1.31	T	-1.019	T	0.067	T	0.446	2.209	13.34	-2.53	-0.171	-0.000	5.747	0.115	0.00449831866982	0.0043	0.00139776	0.0033	0.0009	0.0022	0	0.0005	0.0053	0.0011	0.0005	0.003454	534	154602	rs150365137	0.0053	0.0053	0.0053	0.0052	0.0064	0.0052	0.0051	0.0062	0.0062	0.0009	0.0023	0.0051	0	0.0008	0.0035	0.0064	0.0038	0.0006	0.0035	0.0035	0.0037	0.0032	0.0056	0.0032	0.0031	0.0051	0.0049	0.0015	0	0.0032	0.0040	0	0.0008	0.0034	0.0056	0.0047	0.0004	0.016	0.51853	D	0.036	0.52060	D	0.76	0.43524	P	0.468	0.46719	P	0.003929	0.34318	N	0.136197	1	0.08975	N	2.425	0.70256	M	1.31	0.35405	T	-10.13	0.98888	D	0.375	0.41656	-1.0190	0.24041	T	0.067	0.27640	T	10	0.011009783	0.00242	T	0.004498	0.11063	T	0.115	0.32236	0.675	0.81299	0.187945064343	0.18414	0.527254929087022	0.52649	0.325657707358	0.34714	0.257886528969	0.04643	T	0.037274	0.24416	T	-0.452719	0.01088	T	-0.421157	0.30942	T	0.06922596393841	0.08542	T	0.0106989	0.00059	T	0.48203486	0.66023	0.40557894	0.64954	0.48203486	0.66024	0.40557894	0.64954	-7.503	0.57631	D	.	.	0.634	0.70272	P	.	.	2.312745	0.29604	18.18	0.66292496617728691	0.08016	0.03515	0.08696	N	AEFBI	0.036726	0.04940	N	-0.531263243908647	0.21076	1.115807	-0.757353633003327	0.15542	0.8178813	3.03709633353647E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.92	-2.53	0.05959	-0.048000	0.11898	-1.835000	0.04640	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.290000	0.24260	0.4327:0.2378:0.0:0.3295	5.747	0.17392	872	0.31118	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2192.98	33	chr11	19055676	.	A	G	2192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.385e+00;DP=901;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=1.52;SOR=0.714	GT:AD:DP:GQ:PL	0/1:92,93:185:99:2207,0,2397	20	0	1	0
chr11	31789914	31789915	TT	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729_730del:p.K244Gfs*7	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	0/3:16,0,9,19:49:99:333,428,902,133,623,631,0,345,165,221	0	0	0	0
chr11	31789915	31789915	T	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729delA:p.K244Rfs*29	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	0/3:16,0,9,19:49:99:333,428,902,133,623,631,0,345,165,221	0	0	0	0
chr11	33710315	33710315	C	G	exonic	CD59	.	nonsynonymous SNV	CD59:NM_001127223:exon3:c.G198C:p.K66N	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.951	D	0.025	N	1.000	N	2.395	M	-0.48	T	-0.538	T	0.411	T	0.137	2.539	14.45	-0.258	-0.029	-0.446	6.788	0.177	0.340075616414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	0	6.876e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.018	0.59732	D	0.996	0.68779	D	0.951	0.68939	D	0.024567	0.26239	N	0.433382	1	0.08975	N	2.705	0.79137	M	-0.48	0.70249	T	-3.52	0.68412	D	0.223	0.25006	-0.5379	0.67243	T	0.411	0.75971	T	10	0.58014977	0.65803	D	0.340076	0.91990	D	0.202	0.48754	0.746	0.87738	0.688606724148	0.68593	.	.	0.655417538729	0.58589	0.366684615612	0.20354	T	0.74553	0.92986	D	-0.132194	0.31142	T	-0.427664	0.30200	T	0.968457758426666	0.68249	D	0.587941	0.21633	T	0.76820695	0.81940	0.5410289	0.73474	0.76820695	0.81942	0.5410289	0.73474	-7.35	0.56551	T	0.2980579573009741	0.39522	0.643	0.70654	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.097853	0.14821	11.35	0.99150674235148084	0.53793	0.14899	0.18642	N	AEFBCI	0.166539	0.29314	N	-0.941770828303784	0.09878	0.4695171	-1.0544925857768	0.08614	0.4243679	0.999991318588186	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.36	-0.258	0.12334	-0.442000	0.06943	-0.929000	0.06890	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.4857:0.0:0.5143	6.788	0.22869	768	0.49510	.;Ly-6 antigen/uPA receptor-like|CD59 antigen, conserved site|Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like|CD59 antigen, conserved site|Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like|CD59 antigen, conserved site|Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like|CD59 antigen, conserved site|Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like|CD59 antigen, conserved site|Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like|CD59 antigen, conserved site|Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like|CD59 antigen, conserved site|Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like|CD59 antigen, conserved site|Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like|CD59 antigen, conserved site|Ly-6 antigen/uPA receptor-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2635.98	33	chr11	33710315	.	C	G	2635.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.546e+00;DP=900;ExcessHet=0.0000;FS=1.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=-8.940e-01;SOR=0.548	GT:AD:DP:GQ:PL	0/1:92,102:194:99:2650,0,2409	20	0	1	0
chr11	45227717	45227717	T	C	exonic	PRDM11	.	nonsynonymous SNV	PRDM11:NM_001256695:exon8:c.T3092C:p.L1031P	.	.	519	1002	0	1	0	2	0.000997009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.104e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs775344380	2.895e-06	2.736e-06	1.429e-06	4.4e-06	3.791e-05	6.8e-07	4.6e-07	1.007e-05	4.79e-06	0	0	0	0	0	0	0	1.733e-05	3.791e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	0.52386	.	.	.	.	.	.	.	0.16674724	0.31130	T	.	.	.	.	.	.	.	0.043077524339	0.03247	0.667456522709689	0.66683	.	.	0.494609683752	0.38079	T	0.012106	0.10698	T	-0.241804	0.15119	T	-0.38814	0.34769	T	.	.	.	0.90311	0.66064	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18787	B	.	.	2.351249	0.30146	18.35	0.78940892142777819	0.12520	0.74250	0.36320	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.721879630192195	0.22942	0.162113	0.03585	0	0.063388	0.01293	0	0.175069	0.04249	0	0.117559	0.03655	0	0.373602	0.36917	5.73	3.37	0.37692	2.168000	0.42051	2.348000	0.32296	0.609000	0.47794	0.997000	0.40164	1.000000	0.68203	0.977000	0.56843	0.0:0.2144:0.0:0.7856	8.364	0.31533	628	0.65206	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1442.98	84	chr11	45227717	.	T	C	1442.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.006e+00;DP=2048;ExcessHet=0.0000;FS=0.696;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.560;SOR=0.600	GT:AD:DP:GQ:PL	0/1:58,57:115:99:1457,0,1548	20	0	1	0
chr11	48127804	48127804	C	T	exonic	PTPRJ	.	nonsynonymous SNV	PTPRJ:NM_001098503:exon7:c.C1118T:p.T373I	Colon cancer, somatic	.	1	1519	1	1	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.984	D	0.845	P	.	.	1.000	N	1.1	L	0.28	T	-0.880	T	0.194	T	0.076	3.347	17.27	-2.4	-0.369	-1.062	6.175	0.131	0.0603790060558	.	.	2.475e-05	0	0	0	0	0	0.0011	0.0001	1.94e-05	3	154602	rs769386247	1.505e-05	1.505e-05	1.497e-05	1.513e-05	5.797e-05	9.85e-06	8.41e-06	2.194e-05	1.43e-05	2.987e-05	0	0	0	0	0	1.259e-05	3.312e-05	5.797e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.192	0.48642	T	0.215	0.41742	T	0.645	0.40526	P	0.53	0.48544	P	.	.	.	.	1	0.08975	N	1.39	0.34934	L	0.28	0.59037	T	-1.92	0.55821	N	0.137	0.13484	-0.8797	0.49786	T	0.194	0.54696	T	9	0.13243386	0.25205	T	0.060379	0.67983	D	0.131	0.35738	0.48	0.55983	0.585593966701	0.58232	0.3362593843747178	0.33538	0.588612884424	0.54400	0.2967184484	0.09914	T	0.100846	0.55373	T	-0.39329	0.02561	T	-0.600057	0.12806	T	0.223100587725639	0.21618	T	0.758124	0.38180	T	0.07307525	0.16304	0.07438845	0.16269	0.07307525	0.16304	0.07438845	0.16268	-5.979	0.47623	T	.	.	0.155	0.34927	B	.;.;.;.	.;.;.;.	0.769906	0.11396	8.010	0.99608116872220998	0.74634	0.02067	0.06161	N	AEFDGBI	0.061057	0.11646	N	-0.569937956078228	0.19862	1.042871	-0.759413444511393	0.15491	0.8149868	0.999797472379948	0.43153	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.61	-2.4	0.06204	-1.239000	0.03026	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.770000	0.36519	0.3207:0.3082:0.3711:0.0	6.175	0.19654	137	0.94565	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1631.98	35	chr11	48127804	.	C	T	1631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=855;ExcessHet=0.0000;FS=3.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.33;ReadPosRankSum=0.392;SOR=1.041	GT:AD:DP:GQ:PL	0/1:96,62:158:99:1646,0,2487	20	0	1	0
chr11	54603089	54603089	C	T	exonic	OR4C46	.	nonsynonymous SNV	OR4C46:NM_001004703:exon1:c.G910A:p.D304N,	.	.	453	1051	17	1	0	19	0.00895804	.	.	2816629	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.01	B	0.042	B	0.526	U	1.000	N	0	N	9.8	T	-1.107	T	0.000	T	0.164	0.238	5.285	-0.354	0.225	-0.151	7.029	0.025	0.00157362683264	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs140000110	0.0060	0.0065	0.0057	0.0063	0.0165	0.0059	0.0059	0.0138	0.0127	0.0008	0.0048	0.0130	5.128e-05	0.0065	0.0165	0.0059	0.0063	0.0098	0.0054	0.0054	0.0048	0.0060	0.0090	0.0051	0.0050	0.0072	0.0068	0.0011	0.0011	0.0084	0.0144	0.0002	0.0084	0.0102	0.0065	0.0081	0.0090	0.39	0.10838	T	0.451	0.12920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.87	0.00001	T	0.17	0.05125	N	0.131	0.12627	.	.	.	.	.	.	.	0.0062384605	0.00141	T	.	.	.	.	.	.	.	.	.	0.4223016064214664	0.42147	.	.	.	.	.	0.003407	0.02809	T	.	.	.	.	.	.	.	.	.	0.050295	0.00357	T	.	.	.	.	.	.	.	.	-2.146	0.03787	T	.	.	0.070	0.03661	B	.	.	0.570553	0.09389	6.171	.	.	.	.	.	.	0.042909	0.06716	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.600000	0.02186	.	.	0.217000	0.18040	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1450.98	116	chr11	54603089	.	C	T	1450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.15;DP=1930;ExcessHet=0.0000;FS=0.591;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.55;MQRankSum=-6.450e+00;QD=8.85;ReadPosRankSum=0.431;SOR=0.746	GT:AD:DP:GQ:PL	0/1:103,61:164:99:1465,0,2618	20	0	1	0
chr11	57379730	57379730	C	T	exonic	PRG3	.	nonsynonymous SNV	PRG3:NM_006093:exon3:c.G139A:p.E47K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.998	D	0.896	P	0.690	N	1.000	N	1.87	L	3.57	T	-0.999	T	0.026	T	0.175	2.818	15.38	-0.51	-0.159	0.086	4.412	0.032	0.00376170926973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457	0.08813	T	0.444	0.13177	T	0.998	0.73220	D	0.896	0.63555	P	0.690142	0.10183	N	0.850395	1	0.08975	N	2.505	0.72935	M	3.57	0.04645	T	-2.14	0.48523	N	0.121	0.11197	-0.9986	0.30311	T	0.026	0.11176	T	10	0.110052705	0.20554	T	0.003762	0.08744	T	0.032	0.07718	0.274	0.22528	0.365892764245	0.36201	0.42860867135048925	0.42777	0.0486226977544	0.05311	0.269430577755	0.06067	T	0.093645	0.39254	T	-0.250683	0.14014	T	-0.597865	0.12992	T	0.20536593848873	0.20708	T	0.652235	0.26282	T	0.10989174	0.25978	0.07002446	0.14827	0.10989174	0.25978	0.07002446	0.14827	-5.365	0.40582	T	.	.	0.080	0.07554	B	.	.	1.475552	0.19003	14.04	0.99258573592212263	0.57121	0.73366	0.35888	D	AEFDGBHCI	0.057001	0.10582	N	-0.378796946062851	0.26227	1.429705	-0.619901213133764	0.18981	1.016457	0.016770249721053	0.12870	0.648878	0.45929	0	0.55458	0.17659	0	0.596394	0.31383	0	0.562822	0.20929	0	.	.	4.84	-0.51	0.11376	0.147000	0.16021	-0.543000	0.08571	0.549000	0.26987	0.095000	0.22689	0.000000	0.08366	0.016000	0.10718	0.0:0.41:0.3156:0.2744	4.412	0.10864	329	0.86514	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2805.98	99	chr11	57379730	.	C	T	2805.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=2168;ExcessHet=0.0000;FS=1.105;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.39;ReadPosRankSum=1.77;SOR=0.788	GT:AD:DP:GQ:PL	0/1:92,103:195:99:2820,0,2327	20	0	1	0
chr11	57811471	57811471	C	T	exonic	CTNND1	.	nonsynonymous SNV	CTNND1:NM_001085469:exon13:c.C2302T:p.R768W	.	.	428	1089	4	1	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.914	D	0.000	D	1.000	D	1.525	L	-0.23	T	0.052	D	0.519	D	0.723	4.407	23.4	4.93	2.809	2.385	16.094	0.211	0.0471628227534	.	0.00139776	0.0006	0.0001	0	0.0001	0	3.001e-05	0	0.0043	0.0005304	82	154602	rs144978541	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0045	8.98e-05	2.25e-05	0	2.525e-05	0	0.0007	2.79e-05	0.0001	0.0050	0.0002	0.0002	0.0002	0.0003	0.0058	0.0002	0.0002	0.0041	0.0036	0.0001	0	0	0	0.0002	0	0.0034	2.941e-05	0	0.0058	0.004	0.78490	D	0.016	0.62352	D	0.999	0.77913	D	0.914	0.64984	D	0.000015	0.62929	D	0.109384	0.999843	0.51968	D	1.59	0.40313	L	-0.32	0.76430	T	-3.28	0.68412	D	0.351	0.49874	0.052	0.83283	D	0.519	0.82004	D	10	0.006685525	0.00152	T	0.047163	0.62796	D	0.338	0.66010	.	.	0.532942736534	0.52943	0.5355406024766985	0.53479	1.03768003082	0.75667	0.617040455341	0.55311	T	0.090077	0.90874	T	-0.157924	0.27081	T	0.0016057	0.70441	D	0.14380701957428	0.16599	T	0.979502	0.92959	D	0.33111218	0.55562	0.2963153	0.55663	0.29705328	0.52638	0.30572686	0.56598	-10.55	0.80024	D	.	.	0.471	0.71176	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.683086	0.74965	26.2	0.99914843300219591	0.98309	0.95178	0.63725	D	AEFBI	0.876342	0.80030	D	0.589769725913538	0.72534	5.821118	0.608096935511053	0.75526	6.326319	0.722886061118678	0.22953	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	4.93	0.64394	2.417000	0.44307	2.670000	0.33941	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1741:0.8259:0.0:0.0	16.094	0.80917	378	0.83833	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1453.98	33	chr11	57811471	.	C	T	1453.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.09;ReadPosRankSum=-3.100e-02;SOR=0.710	GT:AD:DP:GQ:PL	0/1:96,64:160:99:1468,0,2187	20	0	1	0
chr11	60416536	60416536	A	C	exonic	MS4A14	.	nonsynonymous SNV	MS4A14:NM_001079692:exon4:c.A1517C:p.K506T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.995	D	0.882	P	0.005	N	1.000	N	1.83	L	2.99	T	-1.079	T	0.169	T	0.124	2.303	13.66	2.59	0.575	1.425	4.331	0.041	0.00606245381162	.	0.000599042	0.0007	0	0	0	0	1.511e-05	0.0011	0.0050	0.0005821	90	154602	rs199505839	0.0002	0.0002	0.0002	0.0003	0.0035	0.0002	0.0002	0.0032	0.0031	2.987e-05	0	0	2.519e-05	0	0.0003	1.439e-05	0.0004	0.0035	0.0001	0.0001	7.713e-05	0.0002	0.0035	7.574e-05	6.279e-05	0.0022	0.0018	2.406e-05	0	0	0	0	0	0	0	0	0.0035	0.039	0.68238	D	0.054	0.58089	T	0.991	0.67487	D	0.766	0.62632	P	0.004872	0.01049	N	3.380750	1	0.08975	N	2.14	0.59869	M	1.4	0.33630	T	-2.17	0.51646	N	0.125	0.15187	-1.0786	0.07622	T	0.169	0.50987	T	10	0.006739706	0.00153	T	0.006062	0.15846	T	0.041	0.10877	0.242	0.17524	0.226586394389	0.22295	.	.	0.246966307126	0.27230	0.258766889572	0.04745	T	0.077718	0.35722	T	-0.550378	0.00290	T	-0.562952	0.16101	T	0.112776308289234	0.13709	T	0.644036	0.28770	T	0.09627433	0.22674	0.0492989	0.07504	0.09627433	0.22673	0.0492989	0.07503	-8.065	0.61513	D	.	.	0.185	0.44174	B	.;.;.;.;.	.;.;.;.;.	1.834505	0.23309	15.97	0.99524427792719417	0.69469	0.09745	0.15431	N	AEFI	0.114167	0.22497	N	-0.21914179448104	0.32349	1.823378	-0.438166580216487	0.23886	1.305	3.06599054619375E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.74	2.59	0.30091	1.073000	0.30302	1.350000	0.25801	0.756000	0.94297	0.004000	0.16614	0.005000	0.19230	0.062000	0.16114	0.6843:0.2027:0.1131:0.0	4.331	0.10505	839	0.37672	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1928.98	98	chr11	60416536	.	A	C	1928.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.807;DP=1769;ExcessHet=0.0000;FS=0.647;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=-9.530e-01;SOR=0.779	GT:AD:DP:GQ:PL	0/1:64,67:131:99:1943,0,1724	20	0	1	0
chr11	60935951	60935951	G	A	exonic	TMEM132A	.	nonsynonymous SNV	TMEM132A:NM_017870:exon11:c.G2119A:p.V707I	.	.	357	1159	6	0	0	6	0.00258176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.045	B	0.024	B	0.018	N	0.949	N	1.735	L	2.3	T	-1.047	T	0.028	T	0.096	1.800	11.98	1.42	0.079	0.869	9.031	0.025	.	0.0048	0.00319489	0.0051	0.0022	0.0049	0.0005	0.0082	0.0065	0.0055	0.0027	0.005084	786	154602	rs77148561	0.0057	0.0057	0.0058	0.0055	0.0062	0.0056	0.0055	0.0061	0.0060	0.0011	0.0047	0.0048	0.0002	0.0079	0.0050	0.0062	0.0053	0.0027	0.0044	0.0044	0.0044	0.0044	0.0059	0.0042	0.0040	0.0054	0.0053	0.0017	0	0.0054	0.0046	0.0006	0.0071	0.0068	0.0059	0.0062	0.0025	0.231	0.21634	T	0.029	0.92824	D	0.035	0.21781	B	0.016	0.20255	B	0.017905	0.27608	N	0.323122	0.948603	0.26564	N	1.775	0.45938	L	2.3	0.16953	T	-0.68	0.19509	N	0.143	0.15187	-1.0469	0.15274	T	0.028	0.11926	T	10	0.0035732388	0.00065	T	.	.	.	0.025	0.05312	.	.	0.211220785272	0.20719	0.30114706106982814	0.30027	0.225663849935	0.25111	0.356133192778	0.18821	T	0.018897	0.15156	T	-0.6225	0.00106	T	-0.654631	0.08633	T	0.00200806080350275	0.00021	T	0.631037	0.24617	T	0.028853307	0.02288	0.05025076	0.07850	0.028853307	0.02288	0.05025076	0.07850	-6.79	0.52485	T	.	.	0.072	0.04889	B	.;.;.	.;.;.	0.755193	0.11248	7.878	0.95774742574627969	0.27786	0.43435	0.27097	N	AEFDGBHCI	0.147687	0.27141	N	-0.440742305872519	0.24054	1.296186	-0.390509254358444	0.25279	1.38921	0.999866183372748	0.44398	0.706298	0.61202	0	0.694456	0.67091	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	5.35	1.42	0.21524	1.319000	0.33260	0.029000	0.13704	0.672000	0.70159	0.053000	0.21524	0.000000	0.08366	0.963000	0.52385	0.2858:0.0:0.7142:0.0	9.031	0.35418	595	0.68488	Transmembrane protein family 132, middle domain;.;Transmembrane protein family 132, middle domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1080.98	38	chr11	60935951	.	G	A	1080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=818;ExcessHet=0.0000;FS=4.208;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=-4.920e-01;SOR=0.361	GT:AD:DP:GQ:PL	0/1:42,41:83:99:1095,0,1030	20	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.984	D	0.956	D	0.000	D	1.000	D	1.895	L	1.75	T	-0.929	T	0.147	T	0.816	4.674	25.8	4.41	2.173	9.720	17.371	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4	7460.77	117	chr11	61740527	.	G	C	7460.77	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.620e+00;DP=2290;ExcessHet=20.9642;FS=238.697;InbreedingCoeff=-0.6474;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=4.46;ReadPosRankSum=0.887;SOR=12.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,44:109:99:0|1:61740527_G_C:897,0,1667:61740527	4	0	16	1
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.948	P	0.588	P	0.000	D	1.000	D	1.5	L	1.82	T	-1.071	T	0.080	T	0.919	3.976	20.4	4.41	1.764	6.186	13.945	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	11271.74	121	chr11	61740531	.	T	C	11271.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.350e+00;DP=2360;ExcessHet=54.0936;FS=275.616;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.98;ReadPosRankSum=0.649;SOR=13.232	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,44:110:99:0|1:61740527_G_C:894,0,1688:61740527	0	0	21	0
chr11	61770306	61770306	G	A	exonic	MYRF	.	nonsynonymous SNV	MYRF:NM_001127392:exon5:c.G521A:p.R174H	.	.	.	.	.	.	.	.	.	.	.	3218712	MYRF-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.994	D	0.000	D	1.000	D	0.695	N	1.15	T	-0.849	T	0.161	T	0.443	4.482	24.0	3.89	2.469	.	17.191	0.201	0.0695971239615	0.0004	.	0.0010	0.0002	0.0001	0	0.0014	0.0017	0	0	0.0006727	104	154602	rs200370195	0.0008	0.0008	0.0008	0.0008	0.0010	0.0008	0.0008	0.0009	0.0009	0.0001	0.0002	0.0005	0	0.0011	0	0.0010	0.0006	1.18e-05	0.0005	0.0005	0.0006	0.0005	0.0010	0.0004	0.0004	0.0008	0.0007	9.68e-05	0	0	0.0006	0	0.0009	0	0.0010	0	0	0.013	0.53900	D	0.059	0.45961	T	1.0	0.90584	D	0.959	0.82059	D	0.000002	0.62929	D	0.000000	0.933219	0.37047	D	.	.	.	1.13	0.38556	T	-1.34	0.35792	N	0.527	0.63289	-0.8491	0.52031	T	0.161	0.49548	T	10	0.08777475	0.15051	T	0.069597	0.70774	D	0.201	0.48592	.	.	0.215239754934	0.21150	0.17856035567607476	0.17775	0.574821426767	0.53496	0.854691147804	0.90321	D	0.035583	0.23773	T	-0.358534	0.04213	T	-0.338227	0.40546	T	0.11440297216177	0.13874	T	0.788521	0.42806	T	0.14702924	0.33630	0.15438253	0.36236	0.16133516	0.36135	0.17816664	0.40466	-6.554	0.50701	T	0.17389433535474502	0.22054	0.118	0.30945	B	.;.	.;.	4.855502	0.79407	27.1	0.99948432714591418	0.99923	0.91100	0.52860	D	AEFDBCI	0.767978	0.70368	D	0.467012969097725	0.65175	4.789544	0.461271375748431	0.65446	4.824588	0.999999999316003	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	3.89	3.89	0.44098	4.823000	0.62385	7.954000	0.75900	0.578000	0.29377	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.191	0.86760	784	0.47045	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	219.98	23	chr11	61770306	.	G	A	219.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=634;ExcessHet=0.0000;FS=1.414;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.67;ReadPosRankSum=-5.490e-01;SOR=0.982	GT:AD:DP:GQ:PL	0/1:23,10:33:99:234,0,547	20	0	1	0
chr11	64556361	64556361	G	A	exonic	SLC22A11	.	nonsynonymous SNV	SLC22A11:NM_001307985:exon1:c.G362A:p.R121H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.544	P	0.099	B	0.062	N	1.000	N	0.245	N	-1.26	T	-0.890	T	0.138	T	0.082	-0.280	2.662	-6.82	-1.338	-2.287	6.412	0.112	0.0232183559612	.	0.000199681	8.409e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs200647534	1.644e-05	1.984e-05	2.318e-05	9.638e-06	0.0005	1.112e-05	9.35e-06	0.0001	7.541e-05	0	8.946e-05	0	2.519e-05	0	0.0005	9.892e-06	4.969e-05	2.319e-05	0.0001	0.0001	8.991e-05	0.0001	0.0009	7.569e-05	6.275e-05	0.0006	0.0004	0	0	0.0009	0	0.0008	0	0	0	0	0	0.416	0.12386	T	0.309	0.20486	T	0.036	0.25713	B	0.024	0.20255	B	0.062016	0.22128	N	0.441048	1	0.08975	N	0.38	0.12130	N	-1.26	0.79176	T	-0.17	0.09627	N	0.043	0.06854	-0.8896	0.48969	T	0.138	0.45621	T	10	0.015597254	0.00327	T	0.023218	0.46168	T	0.112	0.31546	.	.	0.246215685461	0.24236	0.2780902869230835	0.27722	0.25259744787	0.27827	0.194809272885	0.00322	T	0.025393	0.19915	T	-0.398395	0.02373	T	-0.554998	0.16849	T	0.0218903473461523	0.00897	T	0.614838	0.38090	T	0.019756965	0.00514	0.025327757	0.00574	0.019756965	0.00513	0.025327757	0.00574	-4.082	0.28093	T	.	.	0.066	0.02548	B	.;.;.	.;.;.	-0.321685	0.02524	0.300	0.87657376772322826	0.17386	0.01154	0.04169	N	AEFDGBI	0.046811	0.07813	N	-1.52904652383482	0.01661	0.07266618	-1.64541267955064	0.01400	0.06326227	0.999999196675064	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.97	-6.82	0.01537	-1.239000	0.03026	-8.147000	0.01020	-0.848000	0.02741	0.000000	0.06391	0.000000	0.08366	0.685000	0.33688	0.6206:0.0:0.1466:0.2328	6.412	0.20897	394	0.83065	Major facilitator superfamily domain|Major facilitator superfamily domain;.;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1824.98	43	chr11	64556361	.	G	A	1824.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.000e-02;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.94;MQRankSum=0.00;QD=14.60;ReadPosRankSum=-1.078e+00;SOR=0.640	GT:AD:DP:GQ:PL	0/1:57,68:125:99:1839,0,1380	20	0	1	0
chr11	65794103	65794103	C	T	exonic	OVOL1	.	nonsynonymous SNV	OVOL1:NM_004561:exon2:c.C173T:p.P58L,	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.688	P	0.06	B	0.774	N	1.000	D	0	N	3.05	T	-0.807	T	0.009	T	0.308	2.768	15.22	4.95	2.297	1.795	13.714	0.086	.	0.0072	0.00299521	0.0070	0.0019	0.0015	0	0.0209	0.0095	0.0044	0.0024	0.0069469	1074	154602	rs138566993	0.0087	0.0087	0.0089	0.0085	0.0097	0.0086	0.0085	0.0095	0.0095	0.0016	0.0020	0.0070	0	0.0187	0.0012	0.0097	0.0073	0.0022	0.0071	0.0071	0.0068	0.0075	0.0095	0.0068	0.0066	0.0089	0.0086	0.0021	0.0175	0.0039	0.0092	0	0.0210	0	0.0095	0.0033	0.0031	0.23	0.18308	T	0.612	0.07642	T	0.688	0.41582	P	0.06	0.26717	B	0.774250	0.09522	N	0.889866	0.997695	0.81001	D	1.12	0.28775	L	3.05	0.08721	T	-1.76	0.41618	N	0.357	0.39861	-0.8067	0.54748	T	0.009	0.03011	T	10	0.0062689483	0.00141	T	.	.	.	0.086	0.25016	.	.	0.268702046668	0.26493	0.2964091917468648	0.29553	0.723791739799	0.62348	0.475216776133	0.35399	T	0.250052	0.62010	T	-0.537676	0.00346	T	-0.535716	0.18720	T	0.0205320315047869	0.00753	T	0.809319	0.45944	T	0.1111093	0.26259	0.076571114	0.16973	0.1111093	0.26259	0.076571114	0.16973	-5.38	0.40726	T	.	.	0.195	0.41602	B	.	.	2.909202	0.38583	20.8	0.98599190064023634	0.43480	0.34389	0.25055	N	AEFDBI	0.189468	0.31672	N	-0.147318238223708	0.35349	2.029263	-0.0220238939359916	0.38722	2.285467	0.99999150197498	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.95	4.95	0.64894	1.045000	0.29951	7.653000	0.63809	0.599000	0.40250	0.003000	0.16062	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	13.714	0.62163	248	0.90287	.	.	.	.	.	rs138566993	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1650.98	34	chr11	65794103	.	C	T	1650.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.870;DP=937;ExcessHet=0.0000;FS=2.113;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=0.398;SOR=0.535	GT:AD:DP:GQ:PL	0/1:74,69:143:99:1665,0,1774	20	0	1	0
chr11	65850471	65850471	G	A	exonic	SNX32	.	nonsynonymous SNV	SNX32:NM_152760:exon5:c.G415A:p.E139K,	.	.	420	1101	1	0	0	1	0.000453926	.	.	3322703	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	3.08	M	0.77	T	-0.328	T	0.326	T	0.931	4.783	26.9	3.34	1.009	6.243	9.715	0.480	0.014477579159	.	0.000599042	0.0002	9.675e-05	8.673e-05	0	0.0002	6.018e-05	0	0.0013	0.0002135	33	154602	rs549693634	0.0001	0.0001	5.037e-05	0.0002	0.0013	8.915e-05	8.399e-05	0.0011	0.0011	0	0	0	0	0	0.0003	2.068e-05	0.0002	0.0013	8.535e-05	8.53e-05	3.855e-05	0.0001	0.0025	4.953e-05	3.96e-05	0.0014	0.0011	0	0	0	0	0	0	0	1.47e-05	0	0.0025	0.001	0.78490	D	0.006	0.70582	D	1.0	0.90584	D	0.996	0.84481	D	0.000056	0.53742	D	0.000000	0.977931	0.39413	D	2.94	0.84723	M	0.77	0.49642	T	-3.94	0.73378	D	0.899	0.89912	-0.3284	0.74180	T	0.326	0.69479	T	10	0.46164635	0.59321	T	0.014478	0.34624	T	0.480	0.77077	0.844	0.94845	0.415438038341	0.41156	0.6513999234275399	0.65075	0.269893928028	0.29513	0.712870717049	0.69010	T	0.547393	0.84612	D	-0.00823087	0.50512	T	0.190773	0.82612	D	0.430803044109996	0.30090	T	0.990763	0.97171	D	0.87600744	0.89342	0.74246746	0.84777	0.87600744	0.89343	0.74246746	0.84778	-14.19	0.93657	D	.	.	0.897	0.82540	P	.	.	4.604822	0.72972	25.9	0.99907173369530966	0.97726	0.93058	0.57220	D	AEFDGBHCI	0.756991	0.69608	D	0.539376767982428	0.69436	5.356831	0.370351751389081	0.59741	4.154757	0.999999999955386	0.74766	0.713056	0.82018	0	0.550933	0.16991	0	0.608524	0.38960	0	0.666353	0.64628	0	.	.	4.26	3.34	0.37357	7.528000	0.80835	3.803000	0.39877	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.1029:0.0:0.8971:0.0	9.715	0.39436	236	0.90801	Phox homologous domain|Phox homologous domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1666.98	46	chr11	65850471	.	G	A	1666.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=910;ExcessHet=0.0000;FS=0.610;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=0.608;SOR=0.638	GT:AD:DP:GQ:PL	0/1:77,68:145:99:1681,0,1735	20	0	1	0
chr11	66744819	66744819	-	GGCGGCGGCGGC	exonic	C11orf80	.	nonframeshift insertion	C11orf80:NM_024650:exon1:c.77_78insGGCGGCGGCGGC:p.A34_G35insAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0	0.0263	0	.	0.0018	0	0.0009	0.0001682	26	154602	rs567536854	0.0073	0.0075	0.0073	0.0073	0.0076	0.0072	0.0071	0.0075	0.0074	0.0029	0.0051	0.0060	0.0063	0.0104	0.0035	0.0076	0.0060	0.0026	0.0074	0.0075	0.0078	0.0071	0.0102	0.0071	0.0069	0.0088	0.0086	0.0037	0.0022	0.0072	0.0079	0.0102	0.0097	0	0.0094	0.0117	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	25402.44	33	chr11	66744819	.	G	GGGC,GGGCGGC,GGGCGGCGGCGGC	25402.44	.	AC=18,3,1;AF=0.429,0.071,0.024;AN=42;BaseQRankSum=-1.780e-01;DP=1238;ExcessHet=1.0911;FS=0.000;InbreedingCoeff=0.0455;MLEAC=18,3,1;MLEAF=0.429,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=27.88;ReadPosRankSum=-4.000e-02;SOR=0.747	GT:AD:DP:GQ:PL	0/1:31,34,0,0:65:99:1308,0,1169,1401,1271,2673,1401,1271,2673,2673	5	4	8	0
chr11	67311792	67311792	G	A	exonic	SSH3	.	nonsynonymous SNV	SSH3:NM_017857:exon14:c.G1885A:p.G629R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.275	B	0.17	B	0.387	N	1.000	D	-0.55	N	3.87	T	-0.967	T	0.032	T	0.061	-0.373	2.247	1.78	0.737	0.136	5.743	0.033	0.0174244588221	.	.	8.303e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs767244033	1.369e-06	1.368e-06	0	2.751e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371	0.25355	T	0.232	0.25438	T	0.18	0.31898	B	0.082	0.35299	B	0.386785	0.04453	N	1.443540	1	0.81001	D	0.345	0.11182	N	3.87	0.30669	T	-0.48	0.23808	N	0.045	0.10769	-0.9674	0.37733	T	0.032	0.13635	T	10	0.039671957	0.02475	T	0.017424	0.39111	T	0.033	0.08068	0.149	0.05238	0.0762999501168	0.06990	0.05574619410609089	0.05515	0.300694972663	0.32416	0.320713192225	0.13529	T	0.056998	0.30445	T	-0.384846	0.02903	T	-0.693727	0.06176	T	0.115956902503967	0.14030	T	0.512749	0.16428	T	0.03884553	0.05253	0.044165824	0.05662	0.03884553	0.05253	0.044165824	0.05662	-6.823	0.53321	T	.	.	0.095	0.18164	B	.;.;.	.;.;.	0.318568	0.06933	3.476	0.67852685432048643	0.08479	0.25402	0.22688	N	AEFDGBHCI	0.152697	0.27743	N	-1.26641034103622	0.04087	0.1838068	-1.25871925349848	0.05003	0.2373845	0.999999969458549	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	2.7	1.78	0.23918	0.356000	0.19918	5.456000	0.48659	0.139000	0.17671	0.027000	0.20232	0.999000	0.35428	0.005000	0.06747	0.155:0.0:0.845:0.0	5.743	0.17374	401	0.82673	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1425.98	34	chr11	67311792	.	G	A	1425.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.51;DP=826;ExcessHet=0.0000;FS=1.491;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=0.781;SOR=0.878	GT:AD:DP:GQ:PL	0/1:71,52:123:99:1440,0,2042	20	0	1	0
chr11	67405470	67405470	C	T	exonic	TBC1D10C	.	nonsynonymous SNV	TBC1D10C:NM_001369495:exon3:c.C25T:p.P9S	.	.	425	1080	17	0	0	17	0.00780891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.00199681	0.0022	0.0003	0.0025	0	0.0002	0.0013	0.0034	0.0084	0.0020892	323	154602	rs138930014	0.0015	0.0015	0.0012	0.0017	0.0085	0.0014	0.0014	0.0080	0.0078	0.0002	0.0042	0	0	0.0008	0.0042	0.0009	0.0015	0.0085	0.0015	0.0015	0.0013	0.0018	0.0073	0.0014	0.0013	0.0062	0.0057	0.0004	0	0.0073	0	0	0.0003	0	0.0010	0.0024	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.02381	857.98	34	chr11	67405470	.	C	T	857.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.68;DP=785;ExcessHet=0.0000;FS=7.325;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=1.12;SOR=1.655	GT:AD:DP:GQ:PL	0/1:38,29:67:99:872,0,1061	20	0	1	0
chr11	67409605	67409605	C	T	exonic	TBC1D10C	.	nonsynonymous SNV	TBC1D10C:NM_001369495:exon9:c.C889T:p.P297S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.799	P	0.234	B	0.000	D	1.000	D	0.55	N	3.26	T	-0.991	T	0.014	T	0.175	3.079	16.28	4.0	1.298	4.675	8.783	0.070	0.0130860488511	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482694268	7.142e-07	2.052e-06	0	1.447e-06	1.253e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.253e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.171	0.30339	T	0.799	0.44910	P	0.234	0.38393	B	0.000156	0.49130	D	0.000000	0.584872	0.81001	D	0.695	0.17993	N	3.26	0.06681	T	-0.61	0.18042	N	0.28	0.31702	-0.9905	0.32475	T	0.014	0.05369	T	10	0.1643605	0.30750	T	0.013086	0.32217	T	0.070	0.20419	0.273	0.22369	0.456552270603	0.45279	0.6009418203263939	0.60025	.	.	0.692549109459	0.66072	T	0.025498	0.19053	T	-0.237034	0.15730	T	-0.578259	0.14700	T	0.502684354782104	0.32728	D	0.80172	0.44782	T	0.0891703	0.20824	0.08383087	0.19242	0.0891703	0.20824	0.08383087	0.19242	-5.172	0.38656	T	.	.	0.110	0.21087	B	.	.	3.956761	0.58003	23.9	0.99864037400155947	0.94184	0.91655	0.53983	D	AEFDGBCI	0.632011	0.61278	D	-0.0129390730870867	0.41271	2.465513	0.0491419005034255	0.42030	2.535199	0.999999999946887	0.74766	0.608966	0.35542	0	0.52208	0.09955	0	0.769059	0.98459	0	0.604944	0.38103	0	.	.	4.91	4.0	0.45673	2.233000	0.42672	7.300000	0.58086	0.599000	0.40250	0.847000	0.30396	1.000000	0.68203	0.885000	0.42453	0.0:0.8981:0.0:0.1019	8.783	0.33959	584	0.69381	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	531.98	39	chr11	67409605	.	C	T	531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.300e-02;DP=682;ExcessHet=0.0000;FS=2.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=-1.264e+00;SOR=0.805	GT:AD:DP:GQ:PL	0/1:23,23:46:99:546,0,544	20	0	1	0
chr11	70365942	70365942	A	G	exonic	PPFIA1	.	nonsynonymous SNV	PPFIA1:NM_001378006:exon25:c.A3035G:p.E1012G,	.	.	.	.	.	.	.	.	.	0.8866	0.762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	35.68	2	chr11	70365942	.	A	G	35.68	.	AC=2;AF=0.077;AN=26;DP=58;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2898;MLEAC=2;MLEAF=0.077;MQ=60.00;QD=17.84;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	12	1	0	8
chr11	72016139	72016139	C	A	exonic	NUMA1	.	nonsynonymous SNV	NUMA1:NM_006185:exon15:c.G1364T:p.G455V	Leukemia, acute promyelocytic, somatic	.	.	.	.	.	.	.	.	.	.	2351074	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.145	B	0.068	B	0.071	N	1.000	N	0.345	N	2.75	T	-1.019	T	0.070	T	0.417	-0.422	2.031	-1.05	-0.451	0.007	7.816	0.125	0.0175871505085	7.7e-05	.	3.307e-05	0.0002	0	0	0	3.014e-05	0	0	2.59e-05	4	154602	rs34441100	3.147e-05	3.147e-05	2.859e-05	3.438e-05	0.0005	2.412e-05	2.158e-05	0.0003	0.0002	0.0005	2.236e-05	0	0	0	0	2.248e-05	4.968e-05	1.159e-05	5.256e-05	5.253e-05	2.569e-05	8.068e-05	7.237e-05	2.557e-05	1.83e-05	1.972e-05	1.124e-05	7.237e-05	0	0	0	0	0	0	5.879e-05	0.0005	0	0.054	0.46129	T	0.239	0.50514	T	0.078	0.24389	B	0.036	0.27651	B	0.071240	0.02253	N	1.693710	1	0.08975	N	2.015	0.55033	M	2.75	0.43279	T	-1.38	0.44657	N	0.172	0.19190	-1.0187	0.24139	T	0.070	0.28478	T	10	0.038833976	0.02329	T	0.017587	0.39349	T	0.125	0.34456	.	.	0.502485423634	0.49885	0.13335332703923614	0.13259	0.365883644729	0.38178	0.261992663145	0.05130	T	0.102496	0.41028	T	-0.350278	0.04709	T	-0.461491	0.26436	T	0.0270527641104266	0.01552	T	0.215178	0.02674	T	0.05131212	0.09403	0.06983555	0.14764	0.05131212	0.09403	0.06983555	0.14764	-4.955	0.36347	T	.	.	0.095	0.16582	B	.;.;.;.;.;.	.;.;.;.;.;.	1.339415	0.17456	13.17	0.6365066092727214	0.07280	0.30542	0.24109	N	AEFGBCI	0.166360	0.29294	N	-1.55013469441909	0.01534	0.06698575	-1.54753087907012	0.01993	0.09104858	0.989127870016365	0.31730	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.6	-1.05	0.09523	0.230000	0.17632	.	.	-0.681000	0.04224	0.000000	0.06391	0.001000	0.17328	0.291000	0.24285	0.0:0.4442:0.2705:0.2853	7.816	0.28425	538	0.73119	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1166.98	37	chr11	72016139	.	C	A	1166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.694;DP=843;ExcessHet=0.0000;FS=1.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=1.81;SOR=0.899	GT:AD:DP:GQ:PL	0/1:52,46:98:99:1181,0,1288	20	0	1	0
chr11	72239763	72239763	T	C	exonic	PHOX2A	.	nonsynonymous SNV	PHOX2A:NM_005169:exon3:c.A841G:p.T281A,	Fibrosis of extraocular muscles, congenital, 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.001	B	0.001	B	0.029	N	0.606	D	0.205	N	-2.52	D	-0.616	T	0.358	T	0.181	1.987	12.60	1.83	0.646	1.765	3.096	0.015	0.352980698448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.19157	T	0.542	0.09690	T	0.001	0.07471	B	0.001	0.04355	B	0.028739	0.25559	N	0.194461	0.606128	0.32580	D	0.145	0.08828	N	-2.52	0.89363	D	-0.43	0.14390	N	0.098	0.07949	-0.6161	0.64151	T	0.358	0.72037	T	10	0.09141296	0.16012	T	0.352981	0.92317	D	0.214	0.50650	0.106	0.01810	0.637499869557	0.63451	0.5338930359135083	0.53314	.	.	0.695767760277	0.66534	T	0.102201	0.40969	T	-0.0447488	0.45241	T	-0.302055	0.44507	T	0.178171980880213	0.19119	T	0.550545	0.18982	T	0.11713958	0.27620	0.092890225	0.21915	0.11713958	0.27619	0.092890225	0.21914	-3.347	0.14351	T	.	.	0.098	0.16187	B	.	.	2.671507	0.34828	19.73	0.91121660768150448	0.20374	0.56403	0.30108	D	ALL	0.186884	0.31419	N	-0.543029802368534	0.20702	1.09332	-0.404636280040313	0.24860	1.363781	0.999999851521402	0.74766	0.443343	0.08805	1	0.606814	0.50340	0	0.666236	0.60216	0	0.554799	0.18163	0	.	.	4.29	1.83	0.24279	1.377000	0.33923	2.584000	0.33431	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.194:0.1924:0.0:0.6136	3.096	0.05930	800	0.44535	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	589.98	34	chr11	72239763	.	T	C	589.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.119;DP=738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=1.10;SOR=0.770	GT:AD:DP:GQ:PL	0/1:18,25:43:99:604,0,396	20	0	1	0
chr11	73308982	73308982	C	T	exonic	ARHGEF17	.	nonsynonymous SNV	ARHGEF17:NM_014786:exon1:c.C344T:p.A115V,	.	.	429	1017	70	6	0	82	0.0387524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.83	T	0.0	B	0.001	B	.	.	0.958	N	0.695	N	0.4	T	-1.028	T	0.060	T	0.086	3.839	19.50	2.84	0.563	2.147	8.444	0.037	.	.	0.0103834	0.0702	0	0	0	.	0.0718	0	0.0779	0.0042173	652	154602	rs138821110	0.0071	0.0070	0.0064	0.0079	0.0391	0.0070	0.0070	0.0345	0.0327	0.0020	0.0062	0.0385	0	0.0025	0.0391	0.0054	0.0103	0.0303	0.0061	0.0061	0.0058	0.0063	0.0203	0.0057	0.0056	0.0171	0.0158	0.0017	0	0.0085	0.0343	0.0002	0.0012	0.0274	0.0067	0.0147	0.0203	0.133	0.26409	T	0.161	0.31326	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.958337	0.26228	N	0.805	0.20218	L	0.4	0.57261	T	-0.48	0.15379	N	0.086	0.06322	-1.0278	0.21168	T	0.060	0.25127	T	9	0.0018773079	0.00025	T	.	.	.	0.037	0.09474	.	.	.	.	0.2112261720823509	0.21038	0.420411585227	0.42572	0.87365937233	0.93088	D	0.012857	0.11224	T	-0.502128	0.00556	T	-0.469674	0.25551	T	0.0463361906583269	0.04844	T	0.437256	0.12012	T	0.031170215	0.02909	0.12089603	0.29172	0.031170215	0.02908	0.12089603	0.29171	-5.419	0.41102	T	.	.	0.104	0.18746	B	.	.	2.367257	0.30367	18.42	0.99659934032971631	0.77883	0.16498	0.19417	N	ALL	0.072673	0.14512	N	-0.928686673885686	0.10175	0.4849995	-0.822539757875643	0.13949	0.7263908	0.999999999997495	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.239995	0.05000	1	0.372554	0.06265	0	.	.	3.76	2.84	0.32241	0.288000	0.18695	1.582000	0.27480	-1.078000	0.01575	0.570000	0.27505	0.002000	0.18203	0.743000	0.35541	0.0:0.8855:0.0:0.1145	8.444	0.31992	618	0.66225	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.04762	868.11	42	chr11	73308982	.	C	T	868.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.167;DP=777;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=0.846;SOR=0.817	GT:AD:DP:GQ:PL	0/1:14,17:31:99:457,0,322	19	0	2	0
chr11	73394296	73394296	C	T	exonic	RELT	.	nonsynonymous SNV	RELT:NM_032871:exon8:c.C767T:p.T256M	.	.	422	1025	69	6	0	81	0.0380103	.	.	3193193	RELT-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.818	P	0.001	N	0.566	N	1.995	M	-1.08	T	0.120	D	0.432	T	0.448	4.038	20.7	4.64	1.326	2.721	13.447	0.323	.	0.0068	0.0103834	0.0106	0.0017	0.0070	0	0.0024	0.0089	0.0127	0.0317	0.0082793	1280	154602	rs141813904	0.0073	0.0074	0.0063	0.0084	0.0390	0.0072	0.0072	0.0345	0.0327	0.0017	0.0058	0.0374	0	0.0024	0.0390	0.0052	0.0101	0.0310	0.0059	0.0059	0.0057	0.0060	0.0212	0.0055	0.0054	0.0178	0.0166	0.0014	0	0.0079	0.0331	0	0.0012	0.0272	0.0066	0.0133	0.0212	0.002	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.818	0.58969	P	0.001434	0.39044	N	0.263770	0.566451	0.31214	N	2.42	0.70002	M	-1.08	0.77078	T	-2.48	0.54059	N	0.326	0.36884	0.120	0.84534	D	0.432	0.77374	T	10	0.0034896135	0.00062	T	.	.	.	0.323	0.64522	.	.	0.721200597378	0.71874	0.31165544827705494	0.31078	0.457268634728	0.45370	0.392182976007	0.23976	T	0.060363	0.31366	T	-0.294319	0.09206	T	-0.173233	0.57146	T	0.0320297691386701	0.02311	T	0.837416	0.50983	T	0.124951266	0.29305	0.1778103	0.40407	0.1269353	0.29717	0.1778103	0.40407	-5.427	0.41178	T	0.14549929563050834	0.16709	0.096	0.15564	B	.;.	.;.	4.493811	0.70227	25.5	0.99910783101433076	0.98022	0.83453	0.42569	D	AEFDBCI	0.147449	0.27112	N	0.49840717134452	0.66996	5.023172	0.470972948474625	0.66075	4.90504	0.999999766369978	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.57	4.64	0.57399	1.518000	0.35484	5.878000	0.50610	0.599000	0.40250	0.009000	0.18154	1.000000	0.68203	0.986000	0.61781	0.0:0.8426:0.1574:0.0	13.447	0.60600	394	0.83065	.;.	.	.	.	.	rs141813904	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1750.11	33	chr11	73394296	.	C	T	1750.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.17;DP=838;ExcessHet=0.1072;FS=3.811;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=1.17;SOR=0.451	GT:AD:DP:GQ:PL	0/1:53,30:83:99:657,0,1287	19	0	2	0
chr11	74005915	74005915	C	T	exonic	UCP3	.	nonsynonymous SNV	UCP3:NM_003356:exon4:c.G356A:p.R119Q	.	.	.	.	.	.	.	.	.	.	.	752954	not_provided|Obesity|UCP3-related_disorder	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.976	D	0.000	D	1.000	D	1.77	L	-1.22	T	0.189	D	0.590	D	0.858	5.656	36	5.72	2.709	7.742	19.472	0.780	0.0891063907816	0.0005	0.00159744	0.0006	0.0010	0	0.0074	0	3.024e-05	0	0	0.0005692	88	154602	rs17848372	0.0002	0.0002	0.0002	0.0002	0.0052	0.0002	0.0002	0.0047	0.0044	0.0005	2.236e-05	0	0.0052	0	0	2.518e-05	0.0003	5.797e-05	0.0004	0.0004	0.0003	0.0005	0.0062	0.0003	0.0003	0.0045	0.0039	0.0006	0	0.0003	0	0.0062	0	0	2.941e-05	0.0005	0	0.003	0.68238	D	0.023	0.57104	D	0.999	0.77913	D	0.976	0.73562	D	0.000001	0.62929	D	0.063639	0.999984	0.81001	D	1.22	0.30592	L	-1.22	0.78752	T	-2.86	0.63090	D	0.884	0.88246	0.189	0.85725	D	0.590	0.85333	D	10	0.056741625	0.06407	T	0.089106	0.75263	D	0.780	0.92664	.	.	0.890335178546	0.88925	0.6385999121463085	0.63793	0.308509274042	0.33167	0.512405991554	0.40558	T	0.326974	0.69753	T	-0.021283	0.48672	T	0.204471	0.83371	D	0.0915044307672828	0.11395	T	0.79872	0.46599	T	0.809698	0.84533	0.6452301	0.79259	0.80963385	0.84530	0.72971857	0.84031	-11.303	0.82068	D	0.5900706876693069	0.65686	0.421	0.60699	A	.;.	.;.	5.427540	0.90774	31	0.99943263721450493	0.99848	0.99180	0.92409	D	AEFDBI	0.927409	0.91001	D	0.785219564287516	0.85172	8.497725	0.785470531971342	0.88766	9.706783	0.99999999999999	0.74766	0.554377	0.28877	0	0.624146	0.53433	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.72	5.72	0.89380	7.828000	0.84883	4.799000	0.44955	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	19.472	0.94959	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	963.98	36	chr11	74005915	.	C	T	963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.61;DP=774;ExcessHet=0.0000;FS=8.388;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=-1.058e+00;SOR=1.725	GT:AD:DP:GQ:PL	0/1:43,36:79:99:978,0,1081	20	0	1	0
chr11	75430256	75430280	GCCGCCGCCTCGTCCTCCGCGCGCA	-	exonic	KLHL35	.	frameshift deletion	KLHL35:NM_001039548:exon1:c.350_374del:p.L117Pfs*32,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	.	0	0	0	3.84e-05	1	26028	rs760150039	9.53e-05	8.414e-05	0.0001	8.402e-05	0.0042	7.971e-05	7.435e-05	0.0035	0.0032	0.0042	0.0001	0	0	0	0.0004	1.103e-06	0.0003	0	0.0014	0.0014	0.0014	0.0013	0.0048	0.0012	0.0011	0.0042	0.0040	0.0048	0	0.0003	0	0	0	0	1.499e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	963.94	25	chr11	75430255	.	GGCCGCCGCCTCGTCCTCCGCGCGCA	G	963.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=856;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.30;ReadPosRankSum=-4.760e-01;SOR=0.682	GT:AD:DP:GQ:PL	0/1:37,26:63:99:978,0,1458	20	0	1	0
chr11	78073127	78073127	G	A	exonic	NDUFC2;NDUFC2-KCTD14	.	nonsynonymous SNV	NDUFC2-KCTD14:NM_001203260:exon2:c.C181T:p.L61F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.981	D	0.91	D	0.002	N	1.000	D	1.87	L	0.52	T	-0.614	T	0.294	T	0.621	2.209	13.34	5.41	2.826	2.370	18.129	0.207	0.0152927396069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.056	0.49390	T	0.981	0.59675	D	0.91	0.64641	D	0.001730	0.38161	N	0.225304	0.997377	0.81001	D	1.24	0.30952	L	0.52	0.55266	T	-1.81	0.45222	N	0.298	0.39861	-0.6135	0.64258	T	0.294	0.66536	T	10	0.3948178	0.55150	T	0.015293	0.35936	T	0.207	0.49555	0.713	0.84872	0.422404719673	0.41854	0.39554031383581617	0.45522	1.60170403797	0.88696	0.471053600311	0.34825	T	0.012824	0.22643	T	0.0064378	0.52540	T	-0.228529	0.51914	T	0.894019484519958	0.54533	D	0.711729	0.32279	T	0.26298738	0.58596	0.3322656	0.59435	0.26298738	0.58596	0.3322656	0.59434	-4.531	0.31292	T	.	.	0.393	0.60035	A	.;.;.;.;.	.;.;.;.;.	2.988644	0.39896	21.1	0.99742894030052776	0.83629	0.83901	0.42992	D	AEFBI	0.434239	0.49537	N	0.535680113664548	0.69216	5.325468	0.504055823415607	0.68263	5.195942	0.99999788602083	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.41	5.41	0.78313	1.816000	0.38630	7.553000	0.60314	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.785000	0.37106	0.0:0.0:1.0:0.0	18.129	0.89525	601	0.67921	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1923	241.89	39	chr11	78073127	.	G	C,A	241.89	.	AC=3,2;AF=0.115,0.077;AN=26;BaseQRankSum=-6.900e-02;DP=670;ExcessHet=1.2264;FS=167.558;InbreedingCoeff=-0.2704;MLEAC=5,3;MLEAF=0.192,0.115;MQ=60.00;MQRankSum=0.00;QD=1.62;ReadPosRankSum=0.524;SOR=9.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:15,9,0:24:22:.:.:22,0,155,63,178,241	8	0	3	8
chr11	78756813	78756813	A	C	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon19:c.T2748G:p.F916L,	Tremor, hereditary essential, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3482314	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.039	B	0.01	B	0.000	D	1.000	D	2.525	M	-3.06	D	-0.075	T	0.676	D	0.84	3.389	17.43	0.273	0.117	0.256	9.384	0.622	0.142254675707	8.3e-05	0.000399361	5.835e-05	0.0007	0	0	0	0	0	0	5.17e-05	8	154602	rs183776911	4.518e-05	4.515e-05	5.039e-05	3.991e-05	0.0015	3.643e-05	3.323e-05	0.0012	0.0011	0.0015	0	0	0	0	0.0003	8.996e-07	0.0002	2.327e-05	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0005	0.0005	0.0007	0	6.538e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.005	0.72224	D	0.039	0.21116	B	0.01	0.14941	B	0.000000	0.84330	D	0.000000	0.999517	0.47363	D	2.14	0.59869	M	-3.06	0.92457	D	-5.43	0.85323	D	0.884	0.88246	-0.0747	0.80671	T	0.676	0.88800	D	9	0.7290583	0.74172	D	0.142255	0.82464	D	0.622	0.85354	0.468	0.54052	0.944386727223	0.94380	0.7891755978481161	0.78869	0.570358854631	0.53195	0.822402477264	0.85397	D	0.673951	0.90353	D	0.0395169	0.56981	T	0.227639	0.84554	D	0.567621469497681	0.35144	D	0.863414	0.55914	D	0.7644852	0.81719	0.6697461	0.80625	0.7644852	0.81720	0.6697461	0.80626	-9.503	0.70878	D	0.5763938631419465	0.64335	0.932	0.85150	P	.	.	2.402782	0.30868	18.57	0.99311775266415336	0.59017	0.85565	0.44711	D	AEFDBI	0.431855	0.49397	N	-0.308277837973537	0.28832	1.593676	-0.24918975237944	0.29799	1.672495	0.0170636953781218	0.12908	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.17	0.273	0.14903	0.085000	0.14759	0.214000	0.15995	0.756000	0.94297	0.828000	0.30104	0.309000	0.24262	0.997000	0.79791	0.4733:0.0:0.5267:0.0	9.384	0.37496	918	0.19598	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1441.98	36	chr11	78756813	.	A	C	1441.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.590e+00;DP=826;ExcessHet=0.0000;FS=0.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.84;ReadPosRankSum=-4.520e-01;SOR=0.796	GT:AD:DP:GQ:PL	0/1:67,66:133:99:1456,0,1642	20	0	1	0
chr11	78903332	78903332	C	T	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon7:c.G685A:p.A229T,	Tremor, hereditary essential, 5, Autosomal dominant	.	409	1112	1	0	0	1	0.000449438	.	.	724764	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.003	B	0.002	B	0.746	N	0.516	D	-0.505	N	-2.3	D	-0.699	T	0.167	T	0.023	-1.062	0.181	2.36	1.287	1.734	5.094	0.149	.	.	0.0071885	0.0041	0.0312	0	0	0	0.0007	0.0288	0	0.0006727	104	154602	rs182302962	0.0007	0.0007	0.0007	0.0006	0.0246	0.0006	0.0006	0.0230	0.0224	0.0246	0.0017	0.0010	0.0002	0	0.0024	5.914e-05	0.0017	8.652e-05	0.0068	0.0068	0.0066	0.0070	0.0230	0.0065	0.0063	0.0218	0.0213	0.0230	0	0.0031	0.0006	0	0	0.0102	0.0002	0.0071	0	1.0	0.04328	T	1.0	0.25135	T	0.003	0.11197	B	0.002	0.06944	B	0.745860	0.09739	N	0.860751	0.515522	0.31854	D	-1.725	0.00339	N	-2.3	0.87671	D	1.13	0.01182	N	0.059	0.03069	-0.6990	0.60486	T	0.167	0.50551	T	9	0.0031675994	0.00053	T	.	.	.	0.149	0.39377	.	.	0.043077524339	0.03247	0.16419478434188212	0.16339	0.272612617038	0.29765	0.409675121307	0.26411	T	0.034089	0.23181	T	-0.529755	0.00385	T	-0.510048	0.21310	T	0.00187057954964932	0.00019	T	0.664234	0.27311	T	0.024961187	0.01382	0.05387211	0.09157	0.028275378	0.02139	0.051928576	0.08453	-3.847	0.21508	T	0.11969573430296435	0.11179	0.063	0.01408	B	.;.	.;.	1.294739	0.16958	12.87	0.73853776238077307	0.10479	0.54359	0.29596	D	AEFDBHCI	0.087029	0.17646	N	-0.682531226724316	0.16520	0.842386	-0.551798761082992	0.20758	1.119869	0.997687674154823	0.35903	0.533608	0.22052	0	0.615948	0.52940	0	0.685742	0.62368	0	0.584449	0.35598	0	.	.	5.42	2.36	0.28258	1.769000	0.38152	0.884000	0.22419	-0.194000	0.09177	0.999000	0.42656	0.025000	0.21018	0.369000	0.26088	0.0:0.5447:0.1861:0.2692	5.094	0.14056	939	0.14249	Teneurin intracellular, N-terminal|Teneurin intracellular, N-terminal;Teneurin intracellular, N-terminal|Teneurin intracellular, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1064.98	33	chr11	78903332	.	C	T	1064.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.106e+00;DP=791;ExcessHet=0.0000;FS=2.644;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=-1.234e+00;SOR=0.455	GT:AD:DP:GQ:PL	0/1:49,48:97:99:1079,0,1154	20	0	1	0
chr11	86031582	86031582	C	T	exonic	PICALM	.	nonsynonymous SNV	PICALM:NM_001008660:exon2:c.G160A:p.V54M	Leukemia, acute myeloid, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.999	D	0.000	D	1.000	D	1.785	L	1.51	T	-0.916	T	0.183	T	0.881	4.826	27.4	5.52	2.588	7.750	19.448	0.273	0.0213262870975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.075	0.57587	T	0.943	0.53072	P	0.928	0.66279	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.17	0.29769	L	1.51	0.30937	T	-2.38	0.57599	N	0.478	0.54147	-0.9162	0.46063	T	0.183	0.53194	T	9	0.7586508	0.76175	D	0.021326	0.44082	T	0.273	0.58883	0.682	0.81982	0.680912834824	0.67819	0.40081948121042876	0.39996	0.939219290229	0.72156	0.883453011513	0.94421	D	0.474879	0.80615	T	0.194242	0.73355	D	0.0412385	0.73008	D	0.979914247989655	0.73080	D	0.962404	0.87188	D	0.5487056	0.69884	0.41596812	0.65695	0.5487056	0.69885	0.41596812	0.65695	-12.576	0.87543	D	.	.	0.587	0.77273	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.621486	0.73395	26.0	0.99846933833616425	0.92663	0.98304	0.81443	D	AEFGBI	0.913154	0.87475	D	0.679677169106741	0.78300	6.84399	0.709672495467543	0.83111	7.937366	1.0	0.98316	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.52	5.52	0.82153	6.144000	0.71525	5.922000	0.51181	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.448	0.94847	651	0.62880	AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;.;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;.;.;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	93.44	25	chr11	86031582	.	C	T	93.44	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.100e+00;DP=939;ExcessHet=0.1072;FS=204.210;InbreedingCoeff=-0.0599;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.54;ReadPosRankSum=0.417;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,14:99:23:0|1:86031582_C_T:23,0,2833:86031582	19	0	2	0
chr11	93697644	93697644	A	G	exonic	CEP295	.	nonsynonymous SNV	CEP295:NM_033395:exon15:c.A2732G:p.Q911R,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.019	B	0.022	B	0.540	N	1.000	N	0.975	L	1.83	T	-1.009	T	0.040	T	0.068	1.154	9.701	1.45	0.136	0.576	3.415	0.034	0.0116904501819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.716e-06	5.472e-06	5.64e-06	5.795e-06	0.0004	2.46e-06	1.78e-06	6.161e-05	2.547e-05	0	0	0	0	0	0.0004	5.561e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.499	0.11227	T	0.019	0.17989	B	0.022	0.19653	B	0.539802	0.11548	N	0.761213	1	0.08975	N	.	.	.	1.83	0.24841	T	-1.86	0.43524	N	0.054	0.02559	-1.0092	0.27167	T	0.040	0.17404	T	10	0.050759315	0.04857	T	0.01169	0.29566	T	0.034	0.08419	0.238	0.16912	0.0138822411134	0.00435	0.04784306628277062	0.04727	0.107495780972	0.12131	0.217944964767	0.01195	T	0.035861	0.23881	T	-0.291492	0.09486	T	-0.656485	0.08506	T	0.0701209240214943	0.08668	T	0.565643	0.19997	T	0.073977225	0.16570	0.09226551	0.21734	0.073977225	0.16570	0.09226551	0.21733	-6.596	0.51022	T	.	.	0.083	0.08997	B	.	.	0.731530	0.11007	7.666	0.982837908564416	0.39879	0.08871	0.14734	N	AEFBI	0.068902	0.13612	N	-0.882031631292552	0.11271	0.542989	-0.908453483280986	0.11894	0.6087541	0.00195280880475044	0.09036	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.15	1.45	0.21708	0.560000	0.23204	1.650000	0.27840	0.756000	0.94297	0.049000	0.21372	0.374000	0.24583	0.263000	0.23594	0.6513:0.0:0.1819:0.1668	3.415	0.06948	834	0.38640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1572.98	40	chr11	93697644	.	A	G	1572.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.345e+00;DP=857;ExcessHet=0.0000;FS=1.341;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-4.070e-01;SOR=0.854	GT:AD:DP:GQ:PL	0/1:72,67:139:99:1587,0,1946	20	0	1	0
chr11	94179924	94179924	G	A	exonic	PANX1	.	nonsynonymous SNV	PANX1:NM_015368:exon4:c.G868A:p.V290M,	.	.	431	1085	6	0	0	6	0.00275735	.	.	738360	not_provided|PANX1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.918	P	0.326	B	0.006	N	1.000	N	2.075	M	2.05	T	-1.047	T	0.045	T	0.244	1.167	9.749	1.32	0.242	-0.208	5.229	0.032	0.0110222883648	7.7e-05	0.000199681	0.0007	0	0	0.0001	0	0.0001	0	0.0053	0.0005821	90	154602	rs372103195	0.0003	0.0003	0.0002	0.0005	0.0049	0.0003	0.0003	0.0045	0.0043	5.983e-05	4.488e-05	0	7.567e-05	0	0.0016	2.883e-05	0.0002	0.0049	0.0001	0.0001	7.717e-05	0.0002	0.0037	9.152e-05	7.706e-05	0.0024	0.0020	0	0	0	0	0	0	0	4.412e-05	0	0.0037	0.081	0.33418	T	0.196	0.27943	T	0.918	0.50838	P	0.175	0.41929	B	0.005755	0.32538	N	0.325011	0.999996	0.08975	N	2.595	0.75868	M	2.05	0.20808	T	-0.9	0.24244	N	0.156	0.16168	-1.0466	0.15361	T	0.045	0.19275	T	10	0.0076358914	0.00173	T	0.011022	0.28208	T	0.032	0.07718	.	.	0.28798054836	0.28402	0.429757230708867	0.42892	0.218399245309	0.24377	0.413221895695	0.26903	T	0.095082	0.39549	T	-0.531053	0.00379	T	-0.534507	0.18839	T	0.0317671664764544	0.02268	T	0.89721	0.64041	D	0.08678744	0.20187	0.06343824	0.12565	0.08678744	0.20186	0.06343824	0.12564	-5.453	0.41426	T	0.1922320669498814	0.25251	0.108	0.22861	B	.;.	.;.	1.115884	0.15011	11.52	0.99586366202778143	0.73336	0.22523	0.21775	N	AEFDGBI	0.243538	0.36480	N	-0.424380923465198	0.24617	1.330474	-0.58735618036671	0.19821	1.065252	0.904620845716237	0.26183	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	1.32	0.20897	-0.222000	0.09195	1.596000	0.27557	0.676000	0.76740	0.000000	0.06391	0.880000	0.27694	0.052000	0.15357	0.0697:0.3906:0.3227:0.217	5.229	0.14732	642	0.63909	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3901.98	36	chr11	94179924	.	G	A	3901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=1057;ExcessHet=0.0000;FS=3.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=-1.061e+00;SOR=0.535	GT:AD:DP:GQ:PL	0/1:149,148:297:99:3916,0,3641	20	0	1	0
chr11	96092217	96092219	TGC	-	exonic	MAML2	.	nonframeshift deletion	MAML2:NM_032427:exon2:c.1812_1814del:p.Q621del,	Mucoepidermoid salivary gland carcinoma (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	82727.93	103	chr11	96092210	.	TTGCTGCTGC	T,TTGCTGC	82727.93	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-1.300e-01;DP=3240;ExcessHet=0.3300;FS=2.351;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.99;MQRankSum=0.00;QD=26.30;ReadPosRankSum=0.083;SOR=1.120	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,103,0:104:99:.:.:4275,305,0,4278,312,4285	0	17	3	0
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.002	B	0.003	B	0.000	D	0.991	D	1.5	L	.	.	-0.882	T	0.177	T	0.291	2.535	14.44	5.88	2.782	0.899	9.319	0.144	0.0031863420769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.25457	T	0.456	0.54934	T	0.002	0.09854	B	0.003	0.08700	B	0.000011	0.62929	D	0.111292	0.991109	0.41309	D	0.55	0.14455	N	.	.	.	-1.05	0.27463	N	0.139	0.13769	-0.8825	0.49561	T	0.177	0.52240	T	9	0.14178061	0.26937	T	0.003186	0.06966	T	0.144	0.38394	0.324	0.30549	0.333651784274	0.32972	0.3745214875372276	0.37366	0.306637953789	0.32968	0.538885176182	0.44288	T	0.040073	0.25406	T	-0.0969372	0.36933	T	-0.37702	0.36071	T	0.432566970586777	0.30156	T	0.762724	0.38847	T	0.054357305	0.10418	0.07319845	0.15878	0.054357305	0.10417	0.07319845	0.15878	-3.821	0.21119	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	3.124977	0.42209	21.5	0.99583064835214086	0.73099	0.90270	0.51314	D	AEFGBI	0.218300	0.34332	N	-0.0132163549372124	0.41258	2.464544	0.177121742542613	0.48595	3.073425	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	5350.67	112	chr11	106010659	.	C	T,G	5350.67	.	AC=6,6;AF=0.188,0.188;AN=32;BaseQRankSum=-4.593e+00;DP=3242;ExcessHet=9.6308;FS=273.412;InbreedingCoeff=-0.5523;MLEAC=7,7;MLEAF=0.219,0.219;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.88;SOR=12.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,42,0:191:99:0|1:106010659_C_T:317,0,4583,762,4705,5466:106010659	4	0	6	5
chr11	106010659	106010659	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259C:p.A87P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.789	P	0.266	B	0.000	D	0.997	D	1.5	L	.	.	-0.909	T	0.128	T	0.715	2.775	15.24	5.88	2.782	0.899	9.319	0.141	0.00459803515366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.232	0.56192	T	0.789	0.44570	P	0.266	0.39732	B	0.000011	0.62929	D	0.111292	0.997442	0.43893	D	0.895	0.22405	L	.	.	.	-1.67	0.45404	N	0.439	0.47765	-0.9091	0.46965	T	0.128	0.43524	T	9	0.3502357	0.51900	T	0.004598	0.11377	T	0.141	0.37795	0.425	0.47021	0.354822389136	0.35094	0.7275256235572604	0.72696	0.716697243913	0.62006	0.596363663673	0.52391	T	0.064719	0.32505	T	0.133721	0.67721	D	-0.0456953	0.67316	D	0.881986200809479	0.53207	D	0.772023	0.40277	T	0.39838198	0.60620	0.35209376	0.60793	0.39838198	0.60621	0.35209376	0.60792	-6.644	0.51388	T	.	.	0.505	0.65603	A	.;.;.	.;.;.	3.825878	0.55270	23.6	0.996785884463948	0.79108	0.93283	0.57804	D	AEFGBI	0.427184	0.49123	N	0.316991759729759	0.57021	3.867974	0.412391093461756	0.62335	4.447326	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	5350.67	112	chr11	106010659	.	C	T,G	5350.67	.	AC=6,6;AF=0.188,0.188;AN=32;BaseQRankSum=-4.593e+00;DP=3242;ExcessHet=9.6308;FS=273.412;InbreedingCoeff=-0.5523;MLEAC=7,7;MLEAF=0.219,0.219;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.88;SOR=12.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,42,0:191:99:0|1:106010659_C_T:317,0,4583,762,4705,5466:106010659	4	0	6	5
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.001	B	0.002	B	0.001	D	0.672	N	0	N	.	.	-1.080	T	0.039	T	0.091	0.671	7.594	3.03	0.836	0.969	1.144	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4333	6124.11	112	chr11	106010660	.	C	G	6124.11	.	AC=13;AF=0.433;AN=30;BaseQRankSum=-2.788e+00;DP=3216;ExcessHet=11.8493;FS=276.657;InbreedingCoeff=-0.6434;MLEAC=16;MLEAF=0.533;MQ=60.00;MQRankSum=0.00;QD=2.88;ReadPosRankSum=2.98;SOR=12.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,42:191:99:0|1:106010659_C_T:317,0,4583:106010659	2	0	13	6
chr11	117918602	117918604	TGG	0	exonic	TMPRSS13	.	.	.	.	.	455	112	9	0	946	955	0.0386266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2892.83	147	chr11	117918602	.	TGG	T,*	2892.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4072;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=60.00;QD=1.03;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,154:154:99:.:.:6601,6601,6601,475,475,0	1	0	0	0
chr11	117918605	117918618	AGATGCCTGGGCTG	0	exonic	TMPRSS13	.	.	.	.	.	453	114	9	0	946	955	0.0379747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2883.83	147	chr11	117918605	.	AGATGCCTGGGCTG	A,*	2883.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4040;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=59.94;QD=1.03;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,154:154:99:.:.:6601,6601,6601,475,475,0	1	0	0	0
chr11	119677642	119677642	T	C	exonic	NECTIN1	.	nonsynonymous SNV	NECTIN1:NM_002855:exon3:c.A646G:p.S216G	Cleft lip/palate-ectodermal dysplasia syndrome, Autosomal recessive;Orofacial cleft 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	B	0.032	B	0.000	N	0.911	D	2.38	M	-1.18	T	-0.592	T	0.342	T	0.247	2.826	15.41	2.8	0.285	3.222	7.166	0.372	0.100063076428	.	.	0.0002	0	0	0	0	0	0	0.0017	0.0001811	28	154602	rs763644643	8.825e-05	8.824e-05	3.403e-05	0.0001	0.0014	7.555e-05	7.102e-05	0.0012	0.0012	0	0	0	0	0	0	0	6.625e-05	0.0014	2.629e-05	2.627e-05	1.285e-05	4.037e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.019	0.78490	D	0.015	0.70582	D	0.218	0.30213	B	0.032	0.22131	B	0.000000	0.84330	N	0.113982	0.910988	0.36410	D	.	.	.	-1.18	0.78314	T	-3.14	0.64710	D	0.295	0.37197	-0.5922	0.65132	T	0.342	0.70762	T	9	0.06547719	0.08838	T	0.100063	0.77211	D	0.372	0.69102	0.605	0.73706	0.554306714541	0.55088	0.8066815434233905	0.80623	0.38536958446	0.39828	0.458637654781	0.33123	T	0.541543	0.84312	D	-0.308124	0.07914	T	-0.228605	0.51907	T	0.163647202536292	0.18137	T	0.789521	0.46699	T	0.83817255	0.86478	0.7169675	0.83293	0.83817255	0.86480	0.7169675	0.83294	-11.294	0.83667	D	.	.	0.113	0.23395	B	.;.;.	.;.;.	3.247701	0.44358	21.9	0.99480264274776098	0.66850	0.90755	0.52200	D	AEFGBI	0.420292	0.48717	N	-0.139946612479324	0.35665	2.051375	-0.050382526797954	0.37474	2.194597	0.999997091338622	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.21	2.8	0.31881	3.203000	0.50777	2.845000	0.35104	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0775:0.1471:0.7755	7.166	0.24870	877	0.30165	.;CD80-like, immunoglobulin C2-set|Immunoglobulin subtype;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2331.98	36	chr11	119677642	.	T	C	2331.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.880e+00;DP=912;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=0.077;SOR=0.708	GT:AD:DP:GQ:PL	0/1:68,95:163:99:2346,0,1680	20	0	1	0
chr11	120127545	120127545	T	C	exonic	TRIM29	.	nonsynonymous SNV	TRIM29:NM_001330382:exon3:c.A142G:p.I48V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.001	B	0.026	N	0.999	N	0.345	N	1.27	T	-1.022	T	0.043	T	0.048	0.720	7.830	1.54	0.017	0.106	8.339	0.049	0.00344794849918	.	.	8.311e-06	0	0	0	0	0	0	6.224e-05	6.5e-06	1	154602	rs765652057	1.095e-05	1.094e-05	1.089e-05	1.1e-05	0.0002	6.48e-06	5.24e-06	4.579e-05	3.273e-05	0	0	0	0	0	0.0002	4.497e-06	3.312e-05	9.276e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.08335	T	0.415	0.14326	T	0.0	0.02946	B	0.001	0.04355	B	0.025744	0.26035	N	0.367469	0.999455	0.22200	N	0.55	0.14455	N	1.27	0.36146	T	0.59	0.02558	N	0.235	0.26475	-1.0223	0.22965	T	0.043	0.18618	T	9	0.051317543	0.04996	T	0.003448	0.07786	T	0.049	0.13647	0.257	0.19845	0.117506650769	0.11410	0.3072886394777054	0.30641	0.171613433026	0.19324	0.296688199043	0.09908	T	0.006127	0.07859	T	-0.535702	0.00355	T	-0.72784	0.04426	T	0.022796584526735	0.00999	T	0.709329	0.31993	T	0.022978611	0.01000	0.038119484	0.03613	0.022978611	0.01000	0.038119484	0.03612	-3.202	0.12505	T	.	.	0.064	0.05188	B	.;.	.;.	0.655980	0.10244	6.981	0.87006466239437508	0.16923	0.35446	0.25304	N	AEFBHCI	0.108287	0.21547	N	-0.655729185806959	0.17293	0.888647	-0.533003469718558	0.21260	1.149214	0.999703849778351	0.41986	0.516011	0.20929	0	0.563428	0.19063	0	0.577349	0.28860	0	0.564101	0.26826	0	.	.	5.14	1.54	0.22290	0.172000	0.16518	0.048000	0.13961	0.665000	0.62972	0.516000	0.27080	0.007000	0.19602	1.000000	0.97212	0.0:0.2945:0.0:0.7055	8.339	0.31396	871	0.31377	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1845.98	33	chr11	120127545	.	T	C	1845.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.122e+00;DP=863;ExcessHet=0.0000;FS=5.212;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=-3.700e-02;SOR=1.128	GT:AD:DP:GQ:PL	0/1:74,78:152:99:1860,0,1878	20	0	1	0
chr11	130428225	130428225	-	GCA	exonic	ADAMTS8	.	nonframeshift insertion	ADAMTS8:NM_007037:exon1:c.61_62insTGC:p.L21_P22insL,	.	.	0	41	77	64	44	249	0.714286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	8760.77	19	chr11	130428222	.	GGCA	G,GGCAGCA	8760.77	.	AC=21,6;AF=0.500,0.143;AN=42;BaseQRankSum=0.204;DP=554;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=21,6;MLEAF=0.500,0.143;MQ=60.00;MQRankSum=0.00;QD=28.54;ReadPosRankSum=0.132;SOR=0.702	GT:AD:DP:GQ:PL	0/1:13,9,0:22:99:313,0,518,352,545,898	3	7	5	0
chr12	1946235	1946235	T	A	exonic	DCP1B	.	nonsynonymous SNV	DCP1B:NM_152640:exon9:c.A1825T:p.T609S,	.	.	422	1097	3	0	0	3	0.0013655	.	.	3243317	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.877	P	0.411	B	0.000	D	1.000	N	1.495	L	2.19	T	-1.059	T	0.046	T	0.159	2.628	14.75	4.25	1.072	2.419	6.533	0.040	0.00536466684504	7.7e-05	0.000199681	0.0001	0	0.0003	0	0	0.0001	0	0.0001	0.00011	17	154602	rs140587731	0.0001	0.0001	9.298e-05	0.0001	0.0024	9.16e-05	8.688e-05	0.0015	0.0012	0	0.0004	3.854e-05	0	0	0.0024	9.196e-05	0.0001	0.0001	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	8.719e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	0.0003	0	0	0.012	0.54683	D	0.682	0.06071	T	0.877	0.48223	P	0.265	0.39681	B	0.000318	0.45977	D	0.225170	0.934566	0.28377	N	2.34	0.67151	M	2.19	0.18724	T	-1.36	0.33798	N	0.165	0.17416	-1.0593	0.11931	T	0.046	0.19800	T	10	0.07256666	0.10849	T	0.005365	0.13740	T	0.040	0.10527	0.455	0.51938	0.331876078066	0.32801	0.15882151948878173	0.15803	0.147406636612	0.16629	0.513592004776	0.40725	T	0.007284	0.06695	T	-0.405247	0.02138	T	-0.505628	0.21765	T	0.11502632322271	0.13936	T	.	.	.	0.06769701	0.14683	0.08913469	0.20825	0.06769701	0.14682	0.08913469	0.20824	-2.584	0.06382	T	.	.	0.117	0.23814	B	.	.	2.418228	0.31091	18.64	0.97988227370290482	0.37379	0.95214	0.63861	D	AEFBI	0.172128	0.29914	N	0.208642497820078	0.51616	3.341565	0.25365649876693	0.52856	3.457867	0.975969534148127	0.29681	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.39	4.25	0.49658	2.424000	0.44370	2.842000	0.35086	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0806:0.1558:0.7636	6.533	0.21537	861	0.33516	mRNA-decapping enzyme, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1139.98	37	chr12	1946235	.	T	A	1139.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.976;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.80;ReadPosRankSum=0.234;SOR=0.678	GT:AD:DP:GQ:PL	0/1:31,46:77:99:1154,0,658	20	0	1	0
chr12	1949327	1949327	G	A	exonic	DCP1B	.	nonsynonymous SNV	DCP1B:NM_152640:exon8:c.C1532T:p.S511L,	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	1.0	D	0.991	D	0.000	D	1.000	D	1.905	M	1.81	T	-0.937	T	0.149	T	0.817	3.935	20.1	4.64	2.557	5.454	17.032	0.224	0.0280032831603	7.7e-05	0.000199681	9.925e-05	0	0.0003	0	0	0.0001	0	0.0001	9.7e-05	15	154602	rs148983350	0.0001	0.0001	9.939e-05	0.0001	0.0024	9.942e-05	9.35e-05	0.0015	0.0012	0.0001	0.0004	3.826e-05	0	0	0.0024	9.533e-05	0.0001	0.0002	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	9.693e-05	0.0002	0.0001	4.811e-05	0	0.0004	0	0	0	0	0.0002	0	0	0.039	0.42487	D	0.143	0.33219	T	0.998	0.73220	D	0.991	0.79672	D	0.000086	0.51296	D	0.136010	0.994584	0.42337	D	2.16	0.60381	M	1.81	0.25182	T	-2.65	0.56787	D	0.45	0.48780	-0.9374	0.43025	T	0.149	0.47646	T	10	0.2815163	0.45729	T	0.028003	0.50746	D	0.224	0.52174	.	.	0.589282225109	0.58603	0.5325837548119093	0.53183	0.407494054589	0.41607	0.38910472393	0.23544	T	0.027828	0.20292	T	-0.15049	0.28235	T	-0.125985	0.61308	T	0.297186702489853	0.24887	T	.	.	.	0.13874727	0.32077	0.13625546	0.32601	0.13874727	0.32077	0.13625546	0.32600	-3.555	0.17211	T	.	.	0.132	0.28464	B	.	.	3.934663	0.57533	23.9	0.99695673808126384	0.80248	0.92259	0.55302	D	AEFGBCI	0.434655	0.49562	N	0.383220401594894	0.60512	4.240967	0.248223977688551	0.52548	3.428997	0.999999538772868	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.64	4.64	0.57399	5.795000	0.68728	7.369000	0.58386	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.225000	0.22599	0.0:0.0:1.0:0.0	17.032	0.86339	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1458.98	38	chr12	1949327	.	G	A	1458.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.346;DP=897;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=0.264;SOR=0.655	GT:AD:DP:GQ:PL	0/1:55,58:113:99:1473,0,1297	20	0	1	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.418	B	0.122	B	0.121	N	1.000	N	1.7	L	-0.07	T	-0.998	T	0.134	T	0.063	0.770	8.072	-2.7	-0.238	-0.480	5.450	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4286	4735.5	83	chr12	4591261	.	G	C	4735.5	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.041e+00;DP=1832;ExcessHet=30.0624;FS=292.214;InbreedingCoeff=-0.7498;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=3.39;ReadPosRankSum=0.900;SOR=12.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,34:77:99:.:.:498,0,442	3	0	18	0
chr12	4591262	4591262	T	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.T82C:p.S28P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.0	B	0.236	N	1.000	N	-0.805	N	-0.1	T	-1.084	T	0.068	T	0.059	0.995	9.062	-3.92	-0.512	-0.125	0.780	0.089	0.00440886597753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.11406	T	0.313	0.19539	T	0.0	0.02946	B	0.0	0.01387	B	0.235795	0.03549	N	1.561320	1	0.08975	N	-0.805	0.01590	N	-0.1	0.64264	T	-0.27	0.11366	N	0.079	0.05414	-1.0842	0.06553	T	0.068	0.27743	T	10	0.039215803	0.02395	T	0.004409	0.10781	T	0.089	0.25827	0.325	0.30711	0.42526943336	0.42144	0.11389244541155054	0.11317	0.101335283325	0.11470	0.327304363251	0.14527	T	7.42E-4	0.00347	T	-0.283232	0.10329	T	-0.644619	0.09335	T	0.190787822008133	0.19891	T	0.451055	0.13062	T	0.044260852	0.07044	0.05666178	0.10162	0.044260852	0.07043	0.05666178	0.10161	-3.8	0.20805	T	.	.	0.055	0.00397	B	.;.;.	.;.;.	0.139343	0.05334	1.822	0.72541810839383536	0.10010	0.00255	0.01401	N	AEFDBI	0.036495	0.04872	N	-1.57976836352683	0.01369	0.0596469	-1.57847201873377	0.01787	0.08134935	5.90958891872362E-4	0.07390	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-3.92	0.03880	-0.110000	0.10794	-0.393000	0.09462	-0.181000	0.10308	0.001000	0.13787	0.000000	0.08366	0.483000	0.28633	0.3313:0.3776:0.1218:0.1694	0.780	0.00973	834	0.38640	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	304.11	40	chr12	4591262	.	T	C	304.11	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-3.075e+00;DP=1456;ExcessHet=1.7912;FS=131.276;InbreedingCoeff=-0.1677;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.62;ReadPosRankSum=1.08;SOR=10.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,20:77:42:.:.:42,0,1315	15	0	6	0
chr12	4627001	4627001	G	A	exonic	AKAP3	.	nonsynonymous SNV	AKAP3:NM_001278309:exon5:c.C1901T:p.A634V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.033	B	0.007	B	0.274	N	1.000	N	0	N	3.15	T	-0.985	T	0.013	T	0.093	0.101	4.545	4.79	1.392	2.826	8.311	0.069	0.00400333667966	7.7e-05	0.000199681	4.142e-05	0	0	0.0001	0	4.525e-05	0	6.071e-05	4.53e-05	7	154602	rs146374513	5.199e-05	5.199e-05	5.173e-05	5.226e-05	6.205e-05	4.258e-05	3.888e-05	4.987e-05	4.568e-05	2.987e-05	2.237e-05	0	2.519e-05	0	0	6.205e-05	4.967e-05	1.159e-05	2.627e-05	2.625e-05	3.855e-05	1.343e-05	0.0002	8.14e-06	5.14e-06	.	.	2.407e-05	0	6.536e-05	0	0	0	0	1.47e-05	0	0.0002	0.034	0.44029	D	0.104	0.38160	T	0.033	0.20350	B	0.007	0.12992	B	0.273631	0.15080	N	0.647916	1	0.08975	N	-0.345	0.03330	N	3.15	0.07820	T	-1.5	0.36586	N	0.051	0.07673	-0.9851	0.33808	T	0.013	0.05081	T	10	0.04192531	0.02893	T	0.004003	0.09493	T	0.069	0.20116	.	.	0.401753679984	0.39785	0.08117724607568896	0.08052	0.158344896958	0.17885	0.27835637331	0.07265	T	0.005722	0.05169	T	-0.440909	0.01278	T	-0.701983	0.05718	T	0.105350151658058	0.12935	T	0.627137	0.24302	T	0.06039646	0.12388	0.07811991	0.17466	0.06039646	0.12387	0.07811991	0.17466	-3.587	0.17669	T	.	.	0.103	0.18622	B	.;.	.;.	1.856395	0.23579	16.07	0.97453589213050906	0.34043	0.25316	0.22662	N	AEFGBI	0.172485	0.29952	N	-0.710039211234625	0.15738	0.7958294	-0.64518127868233	0.18339	0.9791921	0.0998669119453972	0.16340	0.549168	0.22868	0	0.610034	0.51514	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.69	4.79	0.60909	2.890000	0.48308	1.898000	0.29563	0.676000	0.76740	0.043000	0.21118	0.801000	0.26950	0.001000	0.02609	0.0822:0.1579:0.7598:0.0	8.311	0.31229	680	0.59965	A-kinase anchor 110kDa, C-terminal;A-kinase anchor 110kDa, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2135.98	81	chr12	4627001	.	G	A	2135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.800e-02;DP=2107;ExcessHet=0.0000;FS=0.591;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-7.700e-02;SOR=0.766	GT:AD:DP:GQ:PL	0/1:76,79:155:99:2150,0,1979	20	0	1	0
chr12	6667913	6667918	TGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1187del:p.Q399_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,7,69,0,0:76:39:2918,2638,2745,256,0,39,2919,2710,263,2972,2919,2710,263,2972,2972	0	0	0	0
chr12	6667916	6667918	TGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1184del:p.Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,7,69,0,0:76:39:2918,2638,2745,256,0,39,2919,2710,263,2972,2919,2710,263,2972,2972	0	0	0	0
chr12	6667918	6667918	-	TGC	exonic	ZNF384	.	nonframeshift insertion	ZNF384:NM_001039920:exon9:c.1181_1182insGCA:p.Q400_P401insQ	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,7,69,0,0:76:39:2918,2638,2745,256,0,39,2919,2710,263,2972,2919,2710,263,2972,2972	0	0	0	0
chr12	6667904	6667918	TGCTGCTGCTGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1196del:p.Q396_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169898408	0.0003	0.0004	0.0003	0.0004	0.0008	0.0003	0.0003	0.0006	0.0006	0.0004	0.0003	3.944e-05	0.0002	0	0.0004	0.0003	0.0004	0.0008	0.0002	0.0002	0.0002	0.0002	0.0013	0.0002	0.0001	0.0006	0.0004	0.0002	0	0	0	0	0	0.0035	0.0003	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,7,69,0,0:76:39:2918,2638,2745,256,0,39,2919,2710,263,2972,2919,2710,263,2972,2972	0	0	0	0
chr12	6936749	6936749	-	CAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAG:p.Q502_H503insQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	2/3:0,0,27,36,0,0,0:63:99:.:.:2454,2502,2738,1459,1490,1380,1019,1295,0,1418,2502,2738,1490,1295,2738,2502,2738,1490,1295,2738,2738,2502,2738,1490,1295,2738,2738,2738	1	0	2	0
chr12	6936749	6936749	-	CAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAGCAG:p.Q502_H503insQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	2/3:0,0,27,36,0,0,0:63:99:.:.:2454,2502,2738,1459,1490,1380,1019,1295,0,1418,2502,2738,1490,1295,2738,2502,2738,1490,1295,2738,2738,2502,2738,1490,1295,2738,2738,2738	1	0	2	0
chr12	6936747	6936749	CAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1480_1482del:p.Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	2/3:0,0,27,36,0,0,0:63:99:.:.:2454,2502,2738,1459,1490,1380,1019,1295,0,1418,2502,2738,1490,1295,2738,2502,2738,1490,1295,2738,2738,2502,2738,1490,1295,2738,2738,2738	1	0	2	0
chr12	6936749	6936749	-	CAGCAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAGCAGCAG:p.Q502_H503insQQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	2/3:0,0,27,36,0,0,0:63:99:.:.:2454,2502,2738,1459,1490,1380,1019,1295,0,1418,2502,2738,1490,1295,2738,2502,2738,1490,1295,2738,2738,2502,2738,1490,1295,2738,2738,2738	1	0	2	0
chr12	6936741	6936749	CAGCAGCAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1474_1482del:p.Q500_Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	2/3:0,0,27,36,0,0,0:63:99:.:.:2454,2502,2738,1459,1490,1380,1019,1295,0,1418,2502,2738,1490,1295,2738,2502,2738,1490,1295,2738,2738,2502,2738,1490,1295,2738,2738,2738	1	0	2	0
chr12	7863382	7863382	G	A	exonic	SLC2A14	.	nonsynonymous SNV	SLC2A14:NM_153449:exon3:c.C74T:p.P25L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.851	P	0.241	B	0.942	N	1.000	N	0	N	-1.56	D	-0.792	T	0.262	T	0.197	0.318	5.726	.	0.064	0.064	.	0.176	.	.	0.00199681	0.0035	0	0	0	.	0	0	0.0050	0.0003299	51	154602	rs539921769	0.0013	0.0006	0.0007	0.0017	0.0058	0.0012	0.0011	0.0053	0.0051	0	0	0	0	0	0.0009	0.0001	0.0009	0.0058	0.0002	0.0002	0.0002	0.0003	0.0058	0.0002	0.0001	0.0041	0.0036	0	0	0	0	0	0	0	7.352e-05	0	0.0058	0.028	0.72154	D	0.396	0.21745	T	0.851	0.46962	P	0.241	0.38645	B	0.941963	0.08347	N	0.970008	1	0.08975	N	0	0.06538	N	-1.56	0.84267	D	-1.03	0.36385	N	0.057	0.03069	-0.7918	0.55624	T	0.262	0.63274	T	8	0.005643338	0.00125	T	.	.	.	0.176	0.44373	0.475	0.55182	0.168254554758	0.16434	.	.	0.228339972654	0.25387	0.543522000313	0.44943	T	0.009476	0.17768	T	-0.367679	0.03713	T	-0.297057	0.45035	T	0.0465208242823568	0.04879	T	0.340266	0.07508	T	0.047448855	0.08111	0.12816608	0.30839	0.047448855	0.08110	0.12816608	0.30838	-3.306	0.13815	T	.	.	0.129	0.28290	B	.;.;.;.;.	.;.;.;.;.	0.414863	0.07854	4.555	0.89505756002171921	0.18855	0.00980	0.03737	N	AEFBCI	0.053835	0.09736	N	-1.00704019110472	0.08456	0.3965975	-1.17922117434643	0.06258	0.3006545	0.0103862737705504	0.12016	0.421363	0.06395	0	0.547309	0.14657	0	0.536957	0.11973	0	0.613276	0.41899	0	.	.	.	.	.	0.064000	0.14310	0.097000	0.14596	0.061000	0.17545	0.073000	0.22155	0.023000	0.20922	0.074000	0.16894	.	.	.	940	0.13648	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	213.34	21	chr12	7863382	.	G	A	213.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.220;DP=299;ExcessHet=0.0000;FS=1.957;InbreedingCoeff=-0.0263;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-9.800e-02;SOR=0.956	GT:AD:DP:GQ:PL	0/1:7,10:17:99:227,0,139	19	0	1	1
chr12	8060081	8060081	T	-	exonic	C3AR1	.	frameshift deletion	C3AR1:NM_001326475:exon2:c.105delA:p.L35Ffs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.26e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs759349993	2.052e-06	2.052e-06	1.361e-06	2.75e-06	3.478e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2147.94	33	chr12	8060080	.	GT	G	2147.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.197e+00;DP=848;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.90;ReadPosRankSum=1.08;SOR=0.747	GT:AD:DP:GQ:PL	0/1:56,64:120:99:2162,0,1835	20	0	1	0
chr12	8123940	8123940	T	C	exonic	CLEC4A	.	nonsynonymous SNV	CLEC4A:NM_016184:exon1:c.T62C:p.I21T	.	.	.	.	.	.	.	.	.	.	.	3419448	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.012	B	0.015	B	.	.	1.000	N	0.38	N	5.52	T	-0.984	T	0.041	T	0.043	0.224	5.209	-4.18	-0.907	-1.227	5.677	0.007	0.0010997481034	.	0.000199681	3.302e-05	9.669e-05	0	0	0	3.003e-05	0.0011	0	3.23e-05	5	154602	rs142534143	4.525e-05	4.583e-05	3.275e-05	5.786e-05	0.0003	3.649e-05	3.329e-05	0.0001	0.0001	0.0003	0	0	0	1.873e-05	0.0002	3.787e-05	0.0002	0	4.595e-05	4.593e-05	7.707e-05	1.343e-05	0.0004	2.107e-05	1.526e-05	7.293e-05	3.03e-05	2.405e-05	0	0	0	0	0	0.0034	2.939e-05	0.0005	0.0004	1.0	0.02161	T	0.623	0.26631	T	0.012	0.16265	B	0.005	0.17295	B	.	.	.	.	1	0.08975	N	-0.535	0.02521	N	5.52	0.01033	T	1.27	0.02442	N	0.01	0.08925	-0.9844	0.33975	T	0.041	0.17488	T	9	0.0252662	0.00726	T	0.001	0.01312	T	0.007	0.00512	.	.	0.107399877778	0.10242	0.08376284042238187	0.08310	0.245074677174	0.27039	0.35207003355	0.18227	T	0.001766	0.01186	T	-0.513747	0.00478	T	-0.79421	0.02051	T	0.0357335930844877	0.02934	T	0.464054	0.17878	T	0.025738237	0.01546	0.05478376	0.09486	0.025738237	0.01546	0.05478376	0.09485	-2.861	0.09314	T	.	.	0.076	0.22354	B	.;.;.;.;.	.;.;.;.;.	-0.587990	0.01605	0.109	0.41523539413845822	0.03001	0.00227	0.01275	N	AEFGBIJ	0.033955	0.04121	N	-1.59324417035238	0.01299	0.05654399	-1.63781737636056	0.01440	0.06513204	0.999992013366511	0.74766	0.538715	0.22204	0	0.633563	0.54681	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.31	-4.18	0.03584	-0.826000	0.04536	-3.326000	0.02874	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.2086:0.276:0.5154	5.677	0.17028	923	0.18507	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	751.98	40	chr12	8123940	.	T	C	751.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.768e+00;DP=913;ExcessHet=0.0000;FS=0.752;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.84;ReadPosRankSum=0.487;SOR=0.850	GT:AD:DP:GQ:PL	0/1:72,38:110:99:766,0,1910	20	0	1	0
chr12	9093481	9093481	C	T	exonic	A2M	.	nonsynonymous SNV	A2M:NM_001347425:exon17:c.G1774A:p.D592N	Alpha-2-macroglobulin deficiency, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.494	P	0.279	B	0.215	N	0.703	D	1.81	L	1.79	T	-1.017	T	0.058	T	0.05	2.965	15.88	2.16	0.631	0.161	5.182	0.081	0.00509096676237	.	.	6.641e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs545926870	1.505e-05	1.642e-05	1.089e-05	1.926e-05	0.0002	9.85e-06	8.42e-06	0.0002	0.0001	0	0	0	0	0	0	0	1.656e-05	0.0002	6.574e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.202	0.20230	T	0.196	0.27943	T	0.494	0.37037	P	0.279	0.40265	B	0.214626	0.16283	N	0.597033	0.70349	0.33445	D	2.1	0.58353	M	1.79	0.25509	T	-2.95	0.61580	D	0.256	0.28965	-1.0169	0.24722	T	0.058	0.24428	T	10	0.18166709	0.33410	T	0.005091	0.12908	T	0.081	0.23632	0.673	0.81101	0.703293783477	0.70071	0.6727392154691242	0.67211	0.25146536342	0.27727	0.446050465107	0.31405	T	0.169624	0.51706	T	-0.534915	0.00359	T	-0.684179	0.06732	T	0.269069641828537	0.23707	T	0.425557	0.11413	T	0.18931358	0.40468	0.10662975	0.25655	0.18931358	0.40468	0.10662975	0.25655	-6.867	0.53056	T	.	.	0.103	0.18539	B	.	.	2.190524	0.27933	17.63	0.99707177012797377	0.81074	0.82909	0.42076	D	AEFBCI	0.648919	0.62357	D	-0.0632522969433378	0.39013	2.293911	-0.0247502643469588	0.38601	2.276507	0.23235802661179	0.18480	0.516011	0.20929	0	0.59043	0.45803	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.11	2.16	0.26663	0.235000	0.17727	-0.233000	0.10659	0.599000	0.40250	0.951000	0.33123	0.166000	0.23302	0.986000	0.61781	0.0:0.5951:0.1674:0.2375	5.182	0.14490	483	0.77230	Alpha-2-macroglobulin|Alpha-2-macroglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1650.98	34	chr12	9093481	.	C	T	1650.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=855;ExcessHet=0.0000;FS=0.590;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=1.35;SOR=0.629	GT:AD:DP:GQ:PL	0/1:89,68:157:99:1665,0,2187	20	0	1	0
chr12	10418402	10418402	T	C	exonic	KLRC3	.	nonsynonymous SNV	KLRC3:NM_002261:exon4:c.A428G:p.Q143R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.001	B	0.002	B	0.000	N	1.000	N	0.645	N	3.57	T	-0.954	T	0.009	T	0.088	-0.715	0.924	-4.69	-1.841	-2.619	1.470	0.007	0.000680915479052	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs35805907	6.165e-06	6.157e-06	4.09e-06	8.26e-06	0.0002	2.9e-06	2.1e-06	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	1.801e-06	6.633e-05	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.12386	T	0.539	0.16619	T	0.001	0.07471	B	0.002	0.06944	B	0.000079	0.00436	N	3.949360	1	0.08975	N	0.12	0.08593	N	3.57	0.04645	T	-0.19	0.12283	N	0.13	0.12484	-0.9543	0.40221	T	0.009	0.03054	T	10	0.03946364	0.02438	T	6.81E-4	0.00400	T	0.007	0.00512	0.344	0.33788	0.0297737177859	0.01360	0.1310491575528354	0.13029	0.230551573887	0.25603	0.405796021223	0.25874	T	0.017326	0.14153	T	-0.379969	0.03117	T	-0.783576	0.02347	T	0.0446395544620627	0.04537	T	0.0220978	0.00150	T	0.056012683	0.10965	0.054850567	0.09511	0.056012683	0.10964	0.054850567	0.09511	-1.841	0.02634	T	.	.	0.084	0.11220	B	.;.;.	.;.;.	-1.200029	0.00531	0.012	0.47841598494135762	0.03944	0.00296	0.01581	N	AEFBI	0.035025	0.04440	N	-1.7324364324556	0.00733	0.03164523	-1.84754436221345	0.00619	0.02749157	0.0411693560708953	0.14472	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	2.34	-4.69	0.03061	-3.984000	0.00361	-20.000000	0.00162	-0.131000	0.13161	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2796:0.1572:0.4071:0.1561	1.470	0.02268	872	0.31118	C-type lectin-like|C-type lectin-like|C-type lectin-like|Natural killer cell receptor-like, C-type lectin-like domain;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2971.98	215	chr12	10418402	.	T	C	2971.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.469e+00;DP=4197;ExcessHet=0.0000;FS=3.267;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.37;MQRankSum=-2.513e+00;QD=10.73;ReadPosRankSum=-1.122e+00;SOR=0.732	GT:AD:DP:GQ:PL	0/1:144,133:277:99:2986,0,3643	20	0	1	0
chr12	10930916	10930916	C	T	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.C355T:p.R119C,	.	.	435	924	162	0	1	163	0.080597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.183	B	0.001	B	0.106	U	1.000	N	1.32	L	3.6	T	-0.962	T	0.014	T	0.144	0.202	5.089	-0.205	-0.048	0.062	4.703	0.040	0.00135719490272	.	.	0.0029	0.0048	0.0017	0.0035	0.0008	0.0036	0	0.0007	0.0001921	5	26028	rs200488155	0.0017	0.0087	0.0012	0.0022	0.0033	0.0017	0.0016	0.0030	0.0029	0.0009	0.0027	0.0003	0.0013	0.0084	0.0014	0.0014	0.0014	0.0033	0.0020	0.0066	0.0021	0.0020	0.0021	0.0018	0.0018	0.0018	0.0017	0.0019	0	0.0018	0.0003	0.0021	0.0034	0	0.0021	0.0031	0.0009	0.003	0.68238	D	0.053	0.47336	T	.	.	.	.	.	.	0.105583	0.02589	U	18.770200	1	0.08975	N	.	.	.	3.6	0.04494	T	-2.67	0.57110	D	0.136	0.16447	-0.9623	0.38742	T	0.014	0.05705	T	10	0.006133795	0.00138	T	0.001357	0.01961	T	0.040	0.10527	.	.	0.043077524339	0.03247	0.42757858420159933	0.42674	2.02830112022	0.94057	0.486923903227	0.37012	T	.	.	.	-0.311255	0.07638	T	-0.684873	0.06690	T	0.0238748472601751	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.51798	B	.;.	.;.	1.809367	0.22993	15.84	0.69557796090960189	0.09011	0.00174	0.01026	N	AEFGI	0.041418	0.06294	N	-1.24081326439534	0.04422	0.1995362	-1.38216006772386	0.03442	0.1605599	0.243600485591568	0.18599	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.865	-0.205	0.12548	0.171000	0.16497	-5.685000	0.01631	0.411000	0.20652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5953:0.4047:0.0	4.703	0.12216	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	1985.55	50	chr12	10930916	.	C	T	1985.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=1.28;DP=1409;ExcessHet=2.5830;FS=8.734;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=40.94;MQRankSum=-1.380e-01;QD=3.16;ReadPosRankSum=-4.690e-01;SOR=1.815	GT:AD:DP:GQ:PL	0/1:79,14:93:99:219,0,2356	14	0	7	0
chr12	11092088	11092088	G	0	exonic	TAS2R43	.	.	.	.	.	456	371	599	79	17	774	0.505003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	5986.12	144	chr12	11092088	.	G	C,*	5986.12	.	AC=17,3;AF=0.405,0.071;AN=42;BaseQRankSum=-1.327e+00;DP=2170;ExcessHet=8.0185;FS=6.574;InbreedingCoeff=-0.3364;MLEAC=17,3;MLEAF=0.405,0.071;MQ=56.75;MQRankSum=-8.550e+00;QD=3.41;ReadPosRankSum=1.78;SOR=1.189	GT:AD:DP:GQ:PL	0/1:63,17,0:80:99:344,0,1970,534,2021,2554	4	3	11	0
chr12	11353474	11353474	-	GGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon7:c.1434_1435insAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACAGACCTCAAGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCC:p.E479delinsKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATDLKVPHLQESHKDHPHKETSPE,	.	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0055	0.0042	0.0054	0.0017	0.0025	0	0.0074	.	.	.	.	0.0047	0.0049	0.0045	0.0050	0.0662	0.0046	0.0046	0.0612	0.0593	0.0040	0.0065	0.0131	0.0662	0.0167	0.0024	0.0033	0.0074	0.0029	0	8.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	16788.62	201	chr12	11353474	.	C	CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT,*	16788.62	.	AC=7,3;AF=0.250,0.107;AN=28;BaseQRankSum=1.66;DP=3976;ExcessHet=0.0004;FS=2.665;InbreedingCoeff=0.5485;MLEAC=9,4;MLEAF=0.321,0.143;MQ=53.86;MQRankSum=-5.862e+00;QD=19.17;ReadPosRankSum=-4.300e-01;SOR=0.522	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:59,105,0:164:99:.:.:4091,166,0,4176,315,4325	8	3	1	7
chr12	11353474	11353474	C	0	exonic	PRB1	.	.	.	.	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	16788.62	201	chr12	11353474	.	C	CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT,*	16788.62	.	AC=7,3;AF=0.250,0.107;AN=28;BaseQRankSum=1.66;DP=3976;ExcessHet=0.0004;FS=2.665;InbreedingCoeff=0.5485;MLEAC=9,4;MLEAF=0.321,0.143;MQ=53.86;MQRankSum=-5.862e+00;QD=19.17;ReadPosRankSum=-4.300e-01;SOR=0.522	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:59,105,0:164:99:.:.:4091,166,0,4176,315,4325	8	3	1	7
chr12	24832806	24832806	C	T	exonic	BCAT1	.	nonsynonymous SNV	BCAT1:NM_001178092:exon7:c.G778A:p.E260K	.	.	411	1108	3	0	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.83	T	0.003	B	0.02	B	0.001	D	1.000	D	0.39	N	2.31	T	-1.041	T	0.014	T	0.258	-0.520	1.628	3.15	1.247	0.350	6.478	0.028	.	0.0029	0.00219649	0.0042	0.0009	0.0004	0	0.0110	0.0056	0	0.0026	0.0034734	537	154602	rs7313020	0.0044	0.0044	0.0045	0.0044	0.0049	0.0043	0.0043	0.0048	0.0048	0.0007	0.0011	3.833e-05	2.522e-05	0.0085	0.0014	0.0049	0.0036	0.0027	0.0034	0.0034	0.0029	0.0039	0.0048	0.0032	0.0031	0.0044	0.0042	0.0006	0	0.0026	0	0	0.0101	0	0.0048	0.0033	0.0023	0.645	0.05341	T	0.962	0.02568	T	0.001	0.07471	B	0.005	0.11217	B	0.000615	0.42945	D	0.230682	0.999556	0.47961	D	0.465	0.13073	N	2.31	0.16794	T	-1.57	0.37955	N	0.263	0.35620	-1.0406	0.17132	T	0.014	0.05657	T	10	0.004278332	0.00086	T	.	.	.	0.028	0.06331	.	.	0.171388866994	0.16791	0.6231879212163525	0.62251	0.0237529102387	0.02408	0.331109821796	0.15102	T	0.277516	0.65014	T	-0.568912	0.00225	T	-0.58806	0.13835	T	0.00426816454501589	0.00046	T	0.878412	0.59357	D	0.101902716	0.24075	0.09000528	0.21082	0.101902716	0.24075	0.09000528	0.21082	-2.746	0.13789	T	.	.	0.065	0.02370	B	.;.;.;.;.	.;.;.;.;.	1.246331	0.16423	12.53	0.54782989687718531	0.05207	0.44922	0.27425	N	AEFBI	0.220811	0.34551	N	-0.959778777192792	0.09474	0.4485554	-0.851998066570905	0.13240	0.6857265	0.0192426879413263	0.13143	0.744818	0.98587	0	0.732433	0.95613	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.0	3.15	0.35301	0.220000	0.17445	1.031000	0.23480	-0.198000	0.09030	0.053000	0.21524	0.241000	0.23851	0.169000	0.20946	0.0:0.642:0.1384:0.2196	6.478	0.21244	966	0.07191	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1022.98	33	chr12	24832806	.	C	T	1022.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.091;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=0.914;SOR=0.737	GT:AD:DP:GQ:PL	0/1:58,45:103:99:1037,0,1451	20	0	1	0
chr12	26122639	26122650	GCCGCCGCCGCT	-	exonic	BHLHE41	.	nonframeshift deletion	BHLHE41:NM_030762:exon5:c.865_876del:p.S289_G292del,	.	.	342	1177	3	0	0	3	0.0012728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0103	.	0.0232	0.0329	0.0348	0	0.0025	0.0483	0	0.0068	0.0016905	44	26028	rs753880774	0.0057	0.0048	0.0056	0.0057	0.0064	0.0055	0.0055	0.0062	0.0062	0.0010	0.0025	0.0008	0	0.0012	0.0017	0.0064	0.0045	0.0036	0.0030	0.0030	0.0033	0.0027	0.0050	0.0028	0.0027	0.0045	0.0043	0.0011	0	0.0030	0.0020	0.0002	0.0004	0	0.0050	0.0024	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	349.29	16	chr12	26122638	.	GGCCGCCGCCGCT	G	349.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.660;DP=562;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=24.95;ReadPosRankSum=0.230;SOR=1.002	GT:AD:DP:GQ:PL	0/1:5,9:14:99:363,0,183	19	0	1	1
chr12	29311098	29311098	C	T	exonic	FAR2	.	nonsynonymous SNV	FAR2:NM_001271784:exon6:c.C548T:p.T183I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.009	B	0.012	B	0.001	N	0.994	N	-1.59	N	1.98	T	-0.941	T	0.011	T	0.198	0.312	5.691	1.56	0.597	1.494	6.917	0.067	0.00265185455124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.03502	T	0.701	0.06147	T	0.009	0.15093	B	0.012	0.16012	B	0.001156	0.40056	N	0.212030	0.99353	0.23694	N	-0.695	0.01866	N	1.98	0.21865	T	2.73	0.00184	N	0.205	0.22742	-0.9411	0.42442	T	0.011	0.03996	T	10	0.03974697	0.02489	T	0.002652	0.05406	T	0.067	0.19503	0.562	0.68229	0.168254554758	0.16434	0.6445084295669288	0.64385	0.478096384883	0.46899	0.323771834373	0.13992	T	0.034525	0.23358	T	-0.235002	0.15991	T	-0.57534	0.14963	T	0.106398269534111	0.13047	T	0.80472	0.45238	T	0.049099836	0.08663	0.04227831	0.05000	0.049099836	0.08663	0.04227831	0.05000	-1.041	0.01437	T	.	.	0.083	0.16054	B	.;.;.	.;.;.	1.064764	0.14465	11.04	0.84620371807550532	0.15398	0.42766	0.26950	N	AEFBI	0.118235	0.23128	N	-0.899118992945602	0.10863	0.5212559	-0.699685928821288	0.16968	0.9001243	1.62962658824067E-4	0.05721	0.719381	0.83141	0	0.670034	0.63936	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	4.38	1.56	0.22423	1.432000	0.34545	0.226000	0.16132	0.580000	0.29708	0.883000	0.31049	0.003000	0.18671	0.966000	0.53164	0.0:0.7435:0.0:0.2565	6.917	0.23547	951	0.11083	Male sterility, NAD-binding;Male sterility, NAD-binding;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	155.75	35	chr12	29311098	.	C	T	155.75	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.820e+00;DP=1615;ExcessHet=0.3300;FS=89.849;InbreedingCoeff=-0.0786;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=0.920;SOR=9.926	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,19:136:99:0|1:29311098_C_T:104,0,2948:29311098	18	0	3	0
chr12	32582346	32582346	G	A	exonic	FGD4	.	nonsynonymous SNV	FGD4:NM_001330373:exon3:c.G200A:p.G67D	Charcot-Marie-Tooth disease, type 4H, Autosomal recessive	.	0	1513	8	1	0	10	0.00329381	.	.	244819	Charcot-Marie-Tooth_disease_type_4H|not_provided|Charcot-Marie-Tooth_disease|Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_type_4	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311,Orphanet:99954|MedGen:C3661900|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.46	T	0.005	B	0.005	B	0.349	N	1.000	N	0.695	N	-0.42	T	-0.996	T	0.167	T	0.133	1.731	11.75	2.18	0.161	-0.001	7.333	0.044	0.0316476126348	0.0002	.	0.0004	9.656e-05	0.0004	0	0	0.0004	0	0.0013	0.0003622	56	154602	rs201826412	0.0003	0.0003	0.0002	0.0003	0.0019	0.0003	0.0003	0.0014	0.0013	2.987e-05	0.0002	7.653e-05	0	0	0.0019	0.0002	0.0003	0.0016	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	7.24e-05	0	0.0001	0	0	0	0	0.0005	0	0.0010	0.121	0.27783	T	0.086	0.40909	T	0.001	0.12996	B	0.003	0.11217	B	0.348834	0.13848	N	0.650048	1	0.18612	N	0.695	0.17993	N	-0.5	0.70480	T	-1.61	0.81187	N	0.034	0.01999	-0.9962	0.30974	T	0.167	0.50648	T	10	0.012518853	0.00269	T	0.031648	0.53678	D	0.044	0.11924	.	.	0.743091199223	0.74078	0.14457683029510804	0.14380	0.418897643177	0.42460	0.234417408705	0.02310	T	0.016153	0.37306	T	-0.46617	0.00899	T	-0.477775	0.24683	T	0.00327921090200911	0.00035	T	0.637336	0.25103	T	0.053886205	0.10261	0.08108112	0.18396	0.050132044	0.09008	0.08356227	0.19157	-2.635	0.06774	T	.	.	0.077	0.19194	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.077394	0.03778	0.793	0.86480941779673037	0.16565	0.12168	0.17102	N	AEFDBI	0.083172	0.16847	N	-0.980624759185125	0.09018	0.4251004	-0.972228379834338	0.10412	0.524222	0.985520181332033	0.30902	0.645754	0.44609	0	0.491513	0.07743	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	5.04	2.18	0.26813	0.022000	0.13402	-0.432000	0.09215	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.172000	0.21044	0.1508:0.1366:0.7126:0.0	7.333	0.25766	900	0.24599	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2371.98	50	chr12	32582346	.	G	A	2371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.744e+00;DP=980;ExcessHet=0.0000;FS=0.577;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=1.56;SOR=0.778	GT:AD:DP:GQ:PL	0/1:71,96:167:99:2386,0,1741	20	0	1	0
chr12	40480071	40480071	A	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs561044025	3.961e-05	3.01e-05	5.129e-05	2.599e-05	0.0055	2.824e-05	2.484e-05	0.0037	0.0031	0	0	0	0.0055	0	0	0	0.0005	0	0.0002	0.0002	0.0002	0.0001	0.0048	0.0001	0.0001	0.0034	0.0029	0	0	6.545e-05	0	0.0048	9.416e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4332.98	328	chr12	40480071	.	A	T	4332.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.780;DP=6755;ExcessHet=0.0000;FS=11.181;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=-5.950e-01;SOR=1.026	GT:AD:DP:GQ:PL	0/1:212,160:374:99:4347,0,6283	20	0	1	0
chr12	40482890	40482890	T	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	33722.39	1039	chr12	40482890	.	T	A,*	33722.39	.	AC=5,6;AF=0.208,0.250;AN=24;BaseQRankSum=0.827;DP=22349;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.5849;MLEAC=7,8;MLEAF=0.292,0.333;MQ=57.60;MQRankSum=-2.364e+01;QD=2.90;ReadPosRankSum=3.73;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:358,262,620:1240:99:0|1:40482890_T_A:23325,16091,35149,0,6035,13442:40482890	1	0	5	9
chr12	40483015	40483015	A	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	481509.55	1118	chr12	40483015	.	A	G,*	481509.55	.	AC=32,2;AF=0.762,0.048;AN=42;BaseQRankSum=-3.082e+00;DP=19979;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=32,2;MLEAF=0.762,0.048;MQ=59.68;MQRankSum=0.00;QD=26.76;ReadPosRankSum=0.264;SOR=0.666	GT:AD:DP:GQ:PL	1/1:0,1201,0:1201:99:39224,3605,0,41407,3695,47534	1	12	6	0
chr12	40483068	40483068	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	356058.34	934	chr12	40483068	.	G	A,*	356058.34	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.01;DP=18690;ExcessHet=0.1361;FS=0.637;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=59.71;MQRankSum=0.00;QD=24.52;ReadPosRankSum=0.509;SOR=0.620	GT:AD:DP:GQ:PL	0/1:776,385,0:1161:99:9443,0,21866,11771,23022,34793	4	9	7	0
chr12	40483176	40483178	AAC	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	543	923	56	0	0	56	0.0294427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1415489964	0	4.108e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0006	0.0049	0.0006	0.0007	0.0014	0.0005	0.0005	0.0009	0.0008	0.0005	0	0.0014	0.0006	0	0.0003	0	0.0007	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1334.64	787	chr12	40483175	.	GAAC	G	1334.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=7.54;DP=15446;ExcessHet=0.3300;FS=5.275;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=59.68;MQRankSum=-1.402e+01;QD=0.58;ReadPosRankSum=-8.166e+00;SOR=1.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:878,68:946:99:0|1:40483128_A_G:212,0,36662:40483128	18	0	3	0
chr12	40486500	40486500	C	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	1717.24	813	chr12	40486500	.	C	A,*	1717.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.871;DP=21584;ExcessHet=0.6776;FS=10.912;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=56.54;MQRankSum=4.74;QD=0.36;ReadPosRankSum=-4.885e+00;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:652,0,488:1140:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:18669,20632,48006,0,27374,25778:40486484	17	0	1	0
chr12	40486500	40486500	C	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1717.24	813	chr12	40486500	.	C	A,*	1717.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.871;DP=21584;ExcessHet=0.6776;FS=10.912;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=56.54;MQRankSum=4.74;QD=0.36;ReadPosRankSum=-4.885e+00;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:652,0,488:1140:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:18669,20632,48006,0,27374,25778:40486484	17	0	1	0
chr12	40486502	40486502	G	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.394e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	4774.24	813	chr12	40486502	.	G	T,*	4774.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=1.20;DP=21795;ExcessHet=0.6776;FS=6.160;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.61;MQRankSum=2.70;QD=0.89;ReadPosRankSum=-1.014e+01;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:652,0,488:1140:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:18669,20632,48006,0,27374,25778:40486484	17	0	1	0
chr12	40486502	40486502	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	4774.24	813	chr12	40486502	.	G	T,*	4774.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=1.20;DP=21795;ExcessHet=0.6776;FS=6.160;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.61;MQRankSum=2.70;QD=0.89;ReadPosRankSum=-1.014e+01;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:652,0,488:1140:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:18669,20632,48006,0,27374,25778:40486484	17	0	1	0
chr12	40486506	40486506	A	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3636	17694.52	872	chr12	40486506	.	A	C,T,*	17694.52	.	AC=1,4,3;AF=0.045,0.182,0.136;AN=22;BaseQRankSum=1.05;DP=22443;ExcessHet=3.5521;FS=7.761;InbreedingCoeff=-0.4483;MLEAC=1,6,4;MLEAF=0.045,0.273,0.182;MQ=57.77;MQRankSum=1.58;QD=2.24;ReadPosRankSum=-2.416e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:652,0,0,488:1140:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:18669,20632,48006,20632,48006,48006,0,27374,27374,25778:40486484	3	0	1	10
chr12	40486506	40486506	A	0	exonic	MUC19	.	.	.	.	.	600	654	129	2	137	270	0.092297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	17694.52	872	chr12	40486506	.	A	C,T,*	17694.52	.	AC=1,4,3;AF=0.045,0.182,0.136;AN=22;BaseQRankSum=1.05;DP=22443;ExcessHet=3.5521;FS=7.761;InbreedingCoeff=-0.4483;MLEAC=1,6,4;MLEAF=0.045,0.273,0.182;MQ=57.77;MQRankSum=1.58;QD=2.24;ReadPosRankSum=-2.416e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:652,0,0,488:1140:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:18669,20632,48006,20632,48006,48006,0,27374,27374,25778:40486484	3	0	1	10
chr12	40486507	40486507	G	0	exonic	MUC19	.	.	.	.	.	596	657	130	2	137	271	0.0925414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	17618.27	872	chr12	40486507	.	G	C,*	17618.27	.	AC=5,3;AF=0.227,0.136;AN=22;BaseQRankSum=2.35;DP=22462;ExcessHet=3.5521;FS=7.761;InbreedingCoeff=-0.4483;MLEAC=7,4;MLEAF=0.318,0.182;MQ=57.78;MQRankSum=1.47;QD=2.22;ReadPosRankSum=-2.460e+00;SOR=1.005	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:652,0,488:1140:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:18669,20632,48006,0,27374,25778:40486484	3	0	5	10
chr12	40486514	40486514	G	0	exonic	MUC19	.	.	.	.	.	645	616	122	2	137	263	0.0927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	22747.23	860	chr12	40486514	.	G	A,*	22747.23	.	AC=7,2;AF=0.350,0.100;AN=20;BaseQRankSum=1.88;DP=22874;ExcessHet=4.7172;FS=5.882;InbreedingCoeff=-0.5273;MLEAC=11,3;MLEAF=0.550,0.150;MQ=58.09;MQRankSum=0.489;QD=2.52;ReadPosRankSum=-6.295e+00;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:652,0,488:1140:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:18669,20632,48006,0,27374,25778:40486484	1	0	7	11
chr12	40486574	40486574	G	0	exonic	MUC19	.	.	.	.	.	621	744	27	1	129	158	0.0191167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1071	12193.03	853	chr12	40486574	.	G	*,A	12193.03	.	AC=2,1;AF=0.071,0.036;AN=28;BaseQRankSum=1.14;DP=23730;ExcessHet=0.3300;FS=9.074;InbreedingCoeff=-0.1831;MLEAC=3,1;MLEAF=0.107,0.036;MQ=58.09;MQRankSum=-8.390e-01;QD=2.78;ReadPosRankSum=1.57;SOR=1.265	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1039,419,0:1458:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:14466,0,42366,17594,43627,61221:40486484	11	0	2	7
chr12	40487346	40487346	A	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	540	947	31	0	4	35	0.0161039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326292392	0	1.325e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0031	0.0003	0.0003	0.0007	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0004	0	0.0005	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	5047.17	783	chr12	40487346	.	A	T	5047.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.800e-01;DP=23076;ExcessHet=1.1607;FS=22.206;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=56.88;MQRankSum=-2.407e+01;QD=0.77;ReadPosRankSum=2.86;SOR=3.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:961,87:1048:99:0|1:40487326_C_A:759,0,39924:40487326	15	0	5	1
chr12	40487347	40487347	G	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	538	950	30	0	4	34	0.015544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206361857	0	1.395e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0025	0.0002	0.0002	0.0005	0.0001	0.0001	0.0001	8.09e-05	0.0001	0	0.0002	0.0003	0	0.0003	0	0.0002	0.0011	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3734.3	783	chr12	40487347	.	G	C	3734.3	.	AC=4;AF=0.100;AN=40;BaseQRankSum=1.57;DP=22988;ExcessHet=0.6776;FS=25.637;InbreedingCoeff=-0.1200;MLEAC=4;MLEAF=0.100;MQ=56.93;MQRankSum=-2.135e+01;QD=0.76;ReadPosRankSum=3.46;SOR=3.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:959,89:1048:99:0|1:40487326_C_A:849,0,39902:40487326	16	0	4	1
chr12	40487354	40487354	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	544	938	36	0	4	40	0.0188285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265246174	0	6.857e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0041	0.0004	0.0004	0.0009	0.0003	0.0003	0.0002	0.0002	0.0003	0	0.0005	0.0005	0	0.0007	0	0.0004	0.0027	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1579	6434.31	783	chr12	40487354	.	G	A	6434.31	.	AC=6;AF=0.158;AN=38;BaseQRankSum=6.93;DP=23251;ExcessHet=1.7912;FS=22.206;InbreedingCoeff=-0.2000;MLEAC=6;MLEAF=0.158;MQ=56.97;MQRankSum=-2.438e+01;QD=0.84;ReadPosRankSum=5.99;SOR=3.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:962,95:1057:99:0|1:40487326_C_A:1093,0,40108:40487326	13	0	6	2
chr12	40487370	40487370	C	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	530	937	55	0	0	55	0.0285122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434790702	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0028	0.0002	0.0002	0.0003	0.0001	0.0001	9.092e-05	6.022e-05	0.0001	0	0.0003	0.0003	0	0.0002	0	0.0001	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07895	6137.83	783	chr12	40487370	.	C	G	6137.83	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.891e+00;DP=22823;ExcessHet=0.3300;FS=24.447;InbreedingCoeff=-0.1053;MLEAC=3;MLEAF=0.079;MQ=57.01;MQRankSum=-2.595e+01;QD=1.57;ReadPosRankSum=5.16;SOR=3.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:913,104:1017:99:0|1:40487326_C_A:1619,0,38024:40487326	16	0	3	2
chr12	40487373	40487373	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	536	929	57	0	0	57	0.029765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1199349600	0	5.474e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	8.547e-05	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0002	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07895	6585.83	783	chr12	40487373	.	A	G	6585.83	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.50;DP=22766;ExcessHet=0.3300;FS=24.447;InbreedingCoeff=-0.1053;MLEAC=3;MLEAF=0.079;MQ=56.97;MQRankSum=-2.636e+01;QD=1.69;ReadPosRankSum=4.60;SOR=3.313	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:913,107:1020:99:0|1:40487326_C_A:1745,0,38015:40487326	16	0	3	2
chr12	40487375	40487375	G	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	533	933	56	0	0	56	0.0291363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362941780	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	7.934e-05	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0002	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07895	7211.83	783	chr12	40487375	.	G	C	7211.83	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.357e+00;DP=22744;ExcessHet=0.3300;FS=24.462;InbreedingCoeff=-0.1053;MLEAC=3;MLEAF=0.079;MQ=56.88;MQRankSum=-2.661e+01;QD=1.86;ReadPosRankSum=4.55;SOR=3.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:912,111:1023:99:0|1:40487326_C_A:1916,0,37961:40487326	16	0	3	2
chr12	40487377	40487377	C	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	537	927	58	0	0	58	0.0303347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1471742152	0	3.832e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0031	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0001	0.0001	0	0.0004	0.0003	0.0002	0.0002	0	0.0002	0.0020	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07895	7556.83	783	chr12	40487377	.	C	G	7556.83	.	AC=3;AF=0.079;AN=38;BaseQRankSum=4.58;DP=22964;ExcessHet=0.3300;FS=22.540;InbreedingCoeff=-0.1053;MLEAC=3;MLEAF=0.079;MQ=56.82;MQRankSum=-2.697e+01;QD=1.95;ReadPosRankSum=3.94;SOR=2.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:906,114:1020:99:0|1:40487326_C_A:2060,0,37700:40487326	16	0	3	2
chr12	40487388	40487388	C	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	532	936	54	0	0	54	0.0280374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs552463164	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0030	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0003	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.08333	7873.97	783	chr12	40487388	.	C	G	7873.97	.	AC=3;AF=0.083;AN=36;BaseQRankSum=1.57;DP=22906;ExcessHet=0.3300;FS=22.540;InbreedingCoeff=-0.1200;MLEAC=3;MLEAF=0.083;MQ=56.89;MQRankSum=-2.874e+01;QD=2.03;ReadPosRankSum=3.90;SOR=2.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:914,116:1030:99:0|1:40487326_C_A:2120,0,38030:40487326	15	0	3	3
chr12	40487403	40487403	G	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	531	933	58	0	0	58	0.0301455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1387815853	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0030	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0001	0	0.0005	0.0003	0	0.0002	0	0.0003	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	11261.55	783	chr12	40487403	.	G	T	11261.55	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-7.600e+00;DP=23102;ExcessHet=0.3300;FS=12.822;InbreedingCoeff=-0.1507;MLEAC=4;MLEAF=0.125;MQ=56.51;MQRankSum=-2.985e+01;QD=2.89;ReadPosRankSum=0.192;SOR=1.942	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:894,144:1038:99:0|1:40487326_C_A:3355,0,37105:40487326	13	0	3	5
chr12	40487418	40487418	G	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	527	933	62	0	0	62	0.0321577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796103026	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0031	0.0005	0.0004	0.0009	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0009	0.0003	0	0.0004	0	0.0006	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	14109.93	783	chr12	40487418	.	G	C	14109.93	.	AC=3;AF=0.100;AN=30;BaseQRankSum=-6.242e+00;DP=23264;ExcessHet=0.3300;FS=6.289;InbreedingCoeff=-0.1667;MLEAC=4;MLEAF=0.133;MQ=55.98;MQRankSum=-3.106e+01;QD=3.60;ReadPosRankSum=-4.119e+00;SOR=1.329	GT:AD:DP:GQ:PL	0/1:873,166:1041:99:4315,0,36535	12	0	3	6
chr12	40487421	40487421	-	CCCATCAGCTGAAGTGACAGGGCTACCTGGAGTGTCAGCTGGGGTGACAGGGAC	exonic	MUC19	.	unknown	UNKNOWN,	.	.	528	938	56	0	0	56	0.0289855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0030	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0007	0.0006	0	0.0003	0	0.0005	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	14575.68	783	chr12	40487421	.	G	GCCCATCAGCTGAAGTGACAGGGCTACCTGGAGTGTCAGCTGGGGTGACAGGGAC	14575.68	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-6.431e+00;DP=23203;ExcessHet=0.3300;FS=3.683;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=55.74;MQRankSum=-3.119e+01;QD=3.66;ReadPosRankSum=-5.397e+00;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:886,178:1064:99:0|1:40487326_C_A:4807,0,36667:40487326	17	0	3	1
chr12	40487424	40487424	-	TGG	exonic	MUC19	.	unknown	UNKNOWN,	.	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394452281	0	6.859e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.247e-05	0.0036	3.291e-05	5.266e-05	0.0003	1.641e-05	1.002e-05	6.32e-06	2.36e-06	2.999e-05	0	0	0	0.0003	0.0001	0	3.809e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	50116.39	790	chr12	40487424	.	T	TTGG,TCAGGTGTAGTGACAGGGACAACTGGCCC,C	50116.39	.	AC=6,9,1;AF=0.150,0.225,0.025;AN=40;BaseQRankSum=0.400;DP=24038;ExcessHet=20.9642;FS=1.658;InbreedingCoeff=-0.6518;MLEAC=6,9,1;MLEAF=0.150,0.225,0.025;MQ=57.01;MQRankSum=-2.483e+01;QD=4.00;ReadPosRankSum=2.51;SOR=1.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:889,129,0,0:1018:99:0|1:40487326_C_A:2741,0,36941,5417,37329,42746,5417,37329,42746,42746:40487326	4	0	6	1
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN,	.	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	50116.39	790	chr12	40487424	.	T	TTGG,TCAGGTGTAGTGACAGGGACAACTGGCCC,C	50116.39	.	AC=6,9,1;AF=0.150,0.225,0.025;AN=40;BaseQRankSum=0.400;DP=24038;ExcessHet=20.9642;FS=1.658;InbreedingCoeff=-0.6518;MLEAC=6,9,1;MLEAF=0.150,0.225,0.025;MQ=57.01;MQRankSum=-2.483e+01;QD=4.00;ReadPosRankSum=2.51;SOR=1.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:889,129,0,0:1018:99:0|1:40487326_C_A:2741,0,36941,5417,37329,42746,5417,37329,42746,42746:40487326	4	0	6	1
chr12	40487426	40487426	-	CAC	exonic	MUC19	.	unknown	UNKNOWN,	.	.	529	956	37	0	0	37	0.0189841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1212552436	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.641e-05	0.0013	2.582e-05	2.703e-05	4.427e-05	8.17e-06	5.16e-06	1.175e-05	6.26e-06	0	0	0	0	0	9.495e-05	0	4.427e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	2610.29	803	chr12	40487426	.	T	TCAC	2610.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.466e+00;DP=22905;ExcessHet=0.0000;FS=4.255;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=56.99;MQRankSum=-2.997e+01;QD=2.54;ReadPosRankSum=2.96;SOR=1.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:900,127:1027:99:0|1:40487326_C_A:2624,0,37409:40487326	19	0	1	1
chr12	40487433	40487433	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	533	931	32	0	26	58	0.0168955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489428232	1.207e-06	4.11e-06	2.243e-06	0	1.32e-06	0	0	.	.	0	0	0	0	0	0	1.32e-06	0	0	7.447e-05	0.0018	9.648e-05	5.114e-05	0.0001	3.796e-05	2.83e-05	4.787e-05	3.216e-05	5.844e-05	0	0	0	0	0.0001	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04167	2152.74	803	chr12	40487433	.	A	G	2152.74	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-2.655e+00;DP=22875;ExcessHet=0.0000;FS=9.445;InbreedingCoeff=-0.1648;MLEAC=2;MLEAF=0.083;MQ=57.16;MQRankSum=-2.982e+01;QD=2.09;ReadPosRankSum=2.30;SOR=1.740	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:910,119:1029:99:0|1:40487326_C_A:2162,0,37761:40487326	11	0	1	9
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN,	.	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	47580.64	785	chr12	40487443	.	A	G,ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	47580.64	.	AC=6,9;AF=0.167,0.250;AN=36;BaseQRankSum=-4.103e+00;DP=24007;ExcessHet=17.4423;FS=3.030;InbreedingCoeff=-0.6471;MLEAC=7,10;MLEAF=0.194,0.278;MQ=56.96;MQRankSum=-2.803e+01;QD=3.55;ReadPosRankSum=-2.836e+00;SOR=1.131	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:899,110,0:1009:99:0|1:40487326_C_A:1767,0,36711,4479,37042,41521:40487326	3	0	6	3
chr12	40488212	40488217	GGGGTG	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	573	874	75	0	0	75	0.041141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328022944	0	4.385e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0045	0.0004	0.0005	0.0005	0.0004	0.0003	0.0003	0.0003	0.0005	0	0.0005	0.0013	0	0.0004	0	0.0004	0.0010	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1014.64	821	chr12	40488211	.	TGGGGTG	T	1014.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.168e+00;DP=14312;ExcessHet=0.3300;FS=3.578;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.19;MQRankSum=-2.361e+01;QD=0.32;ReadPosRankSum=-5.647e+00;SOR=1.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:506,46:552:99:0|1:40488211_TGGGGTG_T:260,0,20492:40488211	18	0	3	0
chr12	40488219	40488242	CAGAGACAACTGGACAATCAGCTG	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	562	903	55	1	1	58	0.0305958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486154631	0	3.663e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0040	0.0004	0.0005	0.0005	0.0003	0.0003	0.0003	0.0003	0.0005	0	0.0004	0.0013	0	0.0005	0	0.0004	0.0010	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	412.64	821	chr12	40488218	.	ACAGAGACAACTGGACAATCAGCTG	A	412.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.217e+00;DP=14189;ExcessHet=0.3300;FS=5.392;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.32;MQRankSum=-2.477e+01;QD=0.12;ReadPosRankSum=-6.200e+00;SOR=1.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:563,46:609:97:0|1:40488211_TGGGGTG_T:97,0,22606:40488211	18	0	3	0
chr12	40488222	40488222	A	0	exonic	MUC19	.	.	.	.	.	668	663	143	10	38	201	0.109469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	32216.33	821	chr12	40488222	.	A	G,*	32216.33	.	AC=6,2;AF=0.188,0.063;AN=32;BaseQRankSum=0.891;DP=14011;ExcessHet=3.7745;FS=5.226;InbreedingCoeff=-0.2727;MLEAC=7,2;MLEAF=0.219,0.063;MQ=58.53;MQRankSum=-1.512e+01;QD=4.86;ReadPosRankSum=-8.904e+00;SOR=1.107	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:494,0,46:541:99:0|1:40488212_G_*:371,1869,22454,0,20468,20288:40488212	8	0	6	5
chr12	40488224	40488224	A	0	exonic	MUC19	.	.	.	.	.	25	95	24	1	81	107	0.12037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	211896.28	821	chr12	40488224	.	A	G,T,*	211896.28	.	AC=18,2,2;AF=0.500,0.056,0.056;AN=36;BaseQRankSum=0.772;DP=14066;ExcessHet=0.3330;FS=0.000;InbreedingCoeff=0.0926;MLEAC=20,2,2;MLEAF=0.556,0.056,0.056;MQ=59.12;MQRankSum=0.00;QD=20.60;ReadPosRankSum=1.34;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:506,0,0,46:553:99:0|1:40488212_G_*:335,1869,23009,1869,23009,23009,0,21020,21020,20837:40488212	3	6	5	3
chr12	40488231	40488231	G	0	exonic	MUC19	.	.	.	.	.	640	765	79	12	26	129	0.0630741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	25357.79	821	chr12	40488231	.	G	*,T	25357.79	.	AC=2,6;AF=0.056,0.167;AN=36;BaseQRankSum=0.517;DP=13285;ExcessHet=3.7745;FS=5.683;InbreedingCoeff=-0.2250;MLEAC=2,7;MLEAF=0.056,0.194;MQ=58.57;MQRankSum=-1.600e+01;QD=3.94;ReadPosRankSum=-8.076e+00;SOR=1.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:506,46,0:553:99:0|1:40488212_G_*:335,0,20837,1869,21020,23009:40488212	10	0	2	3
chr12	40488234	40488234	A	0	exonic	MUC19	.	.	.	.	.	655	769	59	13	26	111	0.0523722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	21813.94	821	chr12	40488234	.	A	T,*	21813.94	.	AC=5,2;AF=0.139,0.056;AN=36;BaseQRankSum=3.22;DP=13121;ExcessHet=2.7391;FS=7.380;InbreedingCoeff=-0.1784;MLEAC=6,2;MLEAF=0.167,0.056;MQ=58.57;MQRankSum=-1.943e+01;QD=3.85;ReadPosRankSum=-8.512e+00;SOR=1.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:504,0,46:551:99:0|1:40488212_G_*:353,1997,23700,0,20906,20581:40488212	11	0	5	3
chr12	40488244	40488244	G	0	exonic	MUC19	.	.	.	.	.	0	221	4	0	1	5	0.00896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	13676.28	821	chr12	40488244	.	G	A,*	13676.28	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=9.41;DP=12099;ExcessHet=1.1607;FS=4.938;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=58.35;MQRankSum=-1.233e+01;QD=3.77;ReadPosRankSum=-8.872e+00;SOR=1.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:504,0,46:551:99:0|1:40488212_G_*:353,1997,23700,0,20906,20581:40488212	16	0	4	0
chr12	40488250	40488250	A	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	590	918	12	0	2	14	0.00649351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1458586940	2.996e-05	0.0004	2.53e-05	3.537e-05	0.0125	1.96e-05	1.674e-05	0.0068	0.0052	0	0.0125	0	0.0009	0	0	5.951e-06	0.0001	0.0002	0.0039	0.0090	0.0031	0.0047	0.0330	0.0036	0.0035	0.0303	0.0292	0.0009	0	0.0330	0	0.0033	0.0043	0	0.0002	0.0051	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	9287.95	821	chr12	40488250	.	A	T,*	9287.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=2.25;DP=11746;ExcessHet=0.6776;FS=13.100;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=58.29;MQRankSum=-1.105e+01;QD=4.09;ReadPosRankSum=-8.702e+00;SOR=1.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:504,0,46:551:99:0|1:40488212_G_*:353,1997,23700,0,20906,20581:40488212	17	0	3	0
chr12	40488250	40488250	A	0	exonic	MUC19	.	.	.	.	.	0	222	3	0	1	4	0.00671141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	9287.95	821	chr12	40488250	.	A	T,*	9287.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=2.25;DP=11746;ExcessHet=0.6776;FS=13.100;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=58.29;MQRankSum=-1.105e+01;QD=4.09;ReadPosRankSum=-8.702e+00;SOR=1.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:504,0,46:551:99:0|1:40488212_G_*:353,1997,23700,0,20906,20581:40488212	17	0	3	0
chr12	40488252	40488252	A	0	exonic	MUC19	.	.	.	.	.	1	222	2	0	1	3	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	4982.98	821	chr12	40488252	.	A	G,*	4982.98	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=2.35;DP=11631;ExcessHet=0.7148;FS=49.965;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=58.48;MQRankSum=-8.793e+00;QD=2.32;ReadPosRankSum=-8.295e+00;SOR=4.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:504,0,46:551:99:0|1:40488212_G_*:353,1997,23700,0,20906,20581:40488212	16	0	3	1
chr12	40488255	40488255	G	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	602	913	7	0	0	7	0.00381888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1488209478	9.531e-06	0.0003	7.591e-06	1.179e-05	0.0063	3.96e-06	2.55e-06	0.0025	0.0016	0	0.0063	0	0.0003	0	0	1.488e-06	0	0	0.0031	0.0084	0.0026	0.0037	0.0275	0.0029	0.0028	0.0248	0.0238	0.0007	0	0.0275	0	0.0031	0.0031	0	0.0002	0.0034	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3447.98	821	chr12	40488255	.	G	T,*	3447.98	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=1.94;DP=11556;ExcessHet=0.6776;FS=44.354;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=58.40;MQRankSum=-8.042e+00;QD=1.64;ReadPosRankSum=-7.804e+00;SOR=5.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:504,0,46:551:99:0|1:40488212_G_*:353,1997,23700,0,20906,20581:40488212	16	0	3	1
chr12	40488255	40488255	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3447.98	821	chr12	40488255	.	G	T,*	3447.98	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=1.94;DP=11556;ExcessHet=0.6776;FS=44.354;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=58.40;MQRankSum=-8.042e+00;QD=1.64;ReadPosRankSum=-7.804e+00;SOR=5.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:504,0,46:551:99:0|1:40488212_G_*:353,1997,23700,0,20906,20581:40488212	16	0	3	1
chr12	40488256	40488256	T	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3060.98	821	chr12	40488256	.	T	A,*	3060.98	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=10.51;DP=11535;ExcessHet=0.6776;FS=41.825;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=58.40;MQRankSum=-8.249e+00;QD=1.47;ReadPosRankSum=-7.647e+00;SOR=5.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:504,0,46:551:99:0|1:40488212_G_*:353,1997,23700,0,20906,20581:40488212	16	0	3	1
chr12	40489602	40489602	G	0	exonic	MUC19	.	.	.	.	.	586	533	254	148	1	551	0.340347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	89288.66	720	chr12	40489602	.	G	A,*	89288.66	.	AC=6,1;AF=0.150,0.025;AN=40;BaseQRankSum=4.13;DP=11489;ExcessHet=2.5830;FS=0.517;InbreedingCoeff=-0.2174;MLEAC=6,1;MLEAF=0.150,0.025;MQ=58.87;MQRankSum=1.10;QD=18.58;ReadPosRankSum=3.71;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,407,0:480:99:0|1:40489564_G_A:15387,0,1795,15607,3020,18626:40489564	13	0	6	1
chr12	49106569	49106569	T	C	exonic	LMBR1L	.	nonsynonymous SNV	LMBR1L:NM_001300750:exon3:c.A118G:p.T40A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.0	B	0.001	B	.	.	1.000	N	.	.	0.94	T	-1.023	T	0.073	T	0.062	3.291	17.05	-1.36	-0.399	-0.066	9.190	0.021	0.000704598084243	.	0.000199681	0.0004	0	0	0	0	0	0	0.0013	7.12e-05	11	154602	rs548454864	3.955e-05	3.147e-05	1.181e-05	6.836e-05	0.0006	3.031e-05	2.711e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0.0006	1.975e-05	1.97e-05	1.287e-05	2.694e-05	0.0006	5.25e-06	2.46e-06	0.0002	9.036e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1127.98	34	chr12	49106569	.	T	C	1127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=1.39;SOR=0.660	GT:AD:DP:GQ:PL	0/1:43,42:85:99:1142,0,1152	20	0	1	0
chr12	49526118	49526118	G	A	exonic	SPATS2	.	nonsynonymous SNV	SPATS2:NM_001293286:exon13:c.G1501A:p.E501K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.22	B	0.086	B	0.119	N	1.000	D	0.895	L	.	.	-0.920	T	0.145	T	0.565	1.939	12.44	4.68	2.631	3.148	15.553	0.121	0.0039276826564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.313	0.19539	T	0.22	0.30288	B	0.086	0.29521	B	0.119352	0.19077	N	0.520709	0.752723	0.33947	D	2.045	0.56016	M	.	.	.	-0.17	0.09627	N	0.18	0.21449	-0.9201	0.45540	T	0.145	0.46786	T	9	0.14702287	0.27864	T	0.003928	0.09274	T	0.121	0.33580	0.341	0.33302	0.082315109003	0.07666	0.09705305921740368	0.09636	0.280192948773	0.30498	0.453103631735	0.32368	T	0.003058	0.02464	T	0.0104262	0.53082	T	-0.2228	0.52467	T	0.282663188864311	0.24283	T	0.823718	0.48487	T	0.08401658	0.19429	0.07468699	0.16365	0.08401658	0.19428	0.07468699	0.16364	-3.269	0.13340	T	.	.	0.091	0.12938	B	.;.;.	.;.;.	2.554513	0.33071	19.23	0.99492609705563784	0.67516	0.83603	0.42709	D	AEFGBI	0.216697	0.34191	N	-0.231254894628895	0.31856	1.79062	-0.157036351019673	0.33138	1.892527	0.99808333825658	0.36406	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.68	4.68	0.58319	3.199000	0.50745	9.864000	0.82078	0.618000	0.50648	0.829000	0.30118	1.000000	0.68203	0.169000	0.20946	0.0:0.0:1.0:0.0	15.553	0.75908	170	0.93412	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1591.98	33	chr12	49526118	.	G	A	1591.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.199;DP=854;ExcessHet=0.0000;FS=1.304;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=-1.868e+00;SOR=0.813	GT:AD:DP:GQ:PL	0/1:86,63:149:99:1606,0,2244	20	0	1	0
chr12	49795633	49795633	G	T	exonic	NCKAP5L	.	nonsynonymous SNV	NCKAP5L:NM_001037806:exon8:c.C2227A:p.L743I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.764	P	0.305	B	0.002	N	0.891	N	1.1	L	0.82	T	-0.962	T	0.137	T	0.216	0.435	6.364	4.18	2.319	.	13.870	0.030	0.0141089389353	.	.	1.845e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs770151695	4.116e-06	4.788e-06	5.46e-06	2.758e-06	5.823e-05	1.48e-06	9.7e-07	2.201e-05	1.435e-05	0	0	0	0	0	0	9.008e-07	0	5.823e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.392	0.15406	T	.	.	.	.	.	.	0.001537	0.38731	N	0.000000	0.891431	0.27874	N	.	.	.	0.82	0.48142	T	-0.37	0.13226	N	0.133	0.12913	-0.9623	0.38742	T	0.137	0.45375	T	10	0.07996869	0.12925	T	0.014109	0.34004	T	0.030	0.07022	0.203	0.11797	0.23798241625	0.23396	0.04503164074191393	0.04447	0.0860152842358	0.09718	0.460143208504	0.33330	T	.	.	.	-0.332183	0.05948	T	-0.532788	0.19008	T	0.12284267693758	0.14705	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08754	B	.	.	1.163690	0.15528	11.92	0.94361953589870518	0.24719	0.31898	0.24452	N	AEFDBCI	0.120376	0.23452	N	-0.103470081509316	0.37242	2.163864	-0.111323450119975	0.34934	2.015094	0.890663276800232	0.25841	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.18	4.18	0.48473	-0.166000	0.09943	4.157000	0.42186	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.805000	0.37950	0.0:0.0:1.0:0.0	13.870	0.63112	336	0.86165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	771.98	34	chr12	49795633	.	G	T	771.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=817;ExcessHet=0.0000;FS=0.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.21;ReadPosRankSum=0.677;SOR=0.543	GT:AD:DP:GQ:PL	0/1:72,35:107:99:786,0,1783	20	0	1	0
chr12	52248734	52248734	G	A	exonic	KRT7	.	nonsynonymous SNV	KRT7:NM_005556:exon9:c.G1384A:p.A462T,	.	.	421	1087	13	1	0	15	0.00685244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.001	B	0.0	B	.	.	1.000	N	0.06	N	-1.58	D	-1.097	T	0.009	T	0.115	0.462	6.509	-1.63	-0.015	0.126	4.163	0.095	.	0.0002	0.0277556	0.0130	0.0001	0.0007	0.0952	0	7.866e-05	0.0085	0.0496	0.0114099	1764	154602	rs74761279	0.0054	0.0054	0.0044	0.0064	0.0914	0.0053	0.0053	0.0889	0.0878	0.0002	0.0003	0	0.0914	0	0.0017	0.0001	0.0074	0.0433	0.0051	0.0051	0.0037	0.0065	0.0972	0.0048	0.0047	0.0902	0.0874	0.0002	0	0.0003	0	0.0972	0	0	7.352e-05	0.0038	0.0510	1.0	0.00964	T	0.344	0.17804	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	-1.58	0.81987	D	0.3	0.04091	N	0.075	0.04913	-1.0971	0.04460	T	0.009	0.03227	T	9	0.0016668141	0.00020	T	.	.	.	0.095	0.27398	.	.	.	.	0.4400526626391532	0.43922	0.269543108968	0.29473	0.259349256754	0.04814	T	0.056403	0.30278	T	-0.550562	0.00289	T	-0.476768	0.24791	T	0.000785969789610126	0.00007	T	0.241376	0.03476	T	0.018106438	0.00332	0.047727853	0.06937	0.018106438	0.00332	0.047727853	0.06937	-3.105	0.11353	T	.	.	0.067	0.02518	B	.	.	0.170227	0.05595	2.048	0.78760455704777255	0.12441	0.02893	0.07682	N	AEFDGBCI	0.048208	0.08201	N	-1.40721045940161	0.02575	0.1138847	-1.41359339509129	0.03115	0.1446979	0.999999789266397	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.493711	0.08198	1	0.645665	0.59343	0	.	.	4.32	-1.63	0.07900	0.108000	0.15232	.	.	-0.606000	0.04599	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3509:0.0:0.387:0.2621	4.163	0.09755	783	0.47268	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1603.11	36	chr12	52248734	.	G	A	1603.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.114;DP=796;ExcessHet=0.1072;FS=2.321;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=-1.770e-01;SOR=0.933	GT:AD:DP:GQ:PL	0/1:37,33:70:99:856,0,1049	19	0	2	0
chr12	52385056	52385056	G	C	exonic	KRT84	.	nonsynonymous SNV	KRT84:NM_033045:exon1:c.C530G:p.A177G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.605	H	-3.65	D	1.078	D	0.938	D	0.649	4.170	21.6	5.03	2.790	7.811	18.936	0.891	0.176906474143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000138	0.49741	D	0.000000	0.999991	0.58761	D	4.095	0.97289	H	-3.65	0.95179	D	-3.64	0.69835	D	0.853	0.84922	1.078	0.98810	D	0.938	0.97975	D	10	0.9246705	0.91817	D	0.176906	0.85252	D	0.891	0.96873	0.771	0.89767	0.975966307224	0.97570	0.5387444611866561	0.53799	0.219873754163	0.24531	0.673947811127	0.63400	T	0.575528	0.86016	D	0.322749	0.84668	D	0.22583	0.84466	D	0.999502182006836	0.97675	D	0.952205	0.81731	D	0.8957342	0.91004	0.85471135	0.91821	0.8957342	0.91006	0.85471135	0.91822	-10.131	0.74692	D	.	.	0.640	0.70527	P	.	.	5.271504	0.88515	29.6	0.99726064184576435	0.82406	0.98882	0.88116	D	AEFGBI	0.935306	0.92997	D	0.970799222495421	0.94775	13.02873	0.876790821287214	0.94479	12.79379	0.999999999999533	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.03	5.03	0.67015	8.140000	0.89528	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.936	0.92560	633	0.64743	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	105.9	102	chr12	52385056	.	G	C	105.9	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.565e+00;DP=1552;ExcessHet=0.1072;FS=263.710;InbreedingCoeff=-0.0667;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.53;ReadPosRankSum=0.933;SOR=9.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:100,29:129:80:.:.:80,0,3051	18	0	2	1
chr12	52473676	52473676	T	C	exonic	KRT6C	.	nonsynonymous SNV	KRT6C:NM_173086:exon1:c.A62G:p.N21S,	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, Autosomal dominant	.	0	1479	43	0	0	43	0.0143286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.0	B	0.0	B	0.663	N	1.000	N	-0.735	N	-0.89	T	-0.995	T	0.126	T	0.071	-1.274	0.044	2.04	0.780	-0.443	7.055	0.145	0.0237197188592	.	.	0.0004	0.0020	0.0004	0.0002	0	0.0002	0	0.0002	3.84e-05	1	26028	rs757116227	0.0023	0.0086	0.0023	0.0023	0.0218	0.0023	0.0022	0.0204	0.0199	0.0218	0.0141	0.0002	0.0037	7.506e-05	0.0031	0.0011	0.0027	0.0066	0.0029	0.0094	0.0027	0.0032	0.0087	0.0027	0.0026	0.0079	0.0076	0.0087	0	0.0033	0	0.0022	9.535e-05	0	0.0004	0.0010	0.0036	1.0	0.00964	T	0.54	0.09760	T	0.0	0.02946	B	0.0	0.01387	B	0.663456	0.10407	N	0.860801	1	0.08975	N	-0.64	0.02118	N	-0.89	0.74793	T	1.21	0.01064	N	0.075	0.04913	-0.9952	0.31245	T	0.126	0.43070	T	10	0.016490638	0.00348	T	0.02372	0.46692	T	0.145	0.38592	.	.	0.370240404367	0.36630	0.03666397461304288	0.03613	1.29320391004	0.82848	0.433197557926	0.29646	T	0.004361	0.03768	T	-0.249183	0.14198	T	-0.595711	0.13174	T	0.00825019784137431	0.00099	T	0.0964904	0.00716	T	0.03286239	0.03392	0.03956325	0.04079	0.03286239	0.03391	0.03956325	0.04078	2.324	0.00038	T	.	.	0.043	0.00028	B	.	.	0.054250	0.04668	1.318	0.61138517215947952	0.06635	0.01666	0.05334	N	AEFBI	0.024479	0.01522	N	-1.23179637125951	0.04545	0.2053596	-1.1414974819975	0.06922	0.3348353	8.84291523541453E-4	0.07960	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.93	2.04	0.25787	-0.605000	0.05757	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.233000	0.22815	0.0:0.6453:0.2451:0.1096	7.055	0.24274	682	0.59757	Keratin type II head	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	463.75	43	chr12	52473676	.	T	C	463.75	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.778;DP=1014;ExcessHet=0.3300;FS=41.120;InbreedingCoeff=-0.0732;MLEAC=2;MLEAF=0.048;MQ=49.95;MQRankSum=-3.997e+00;QD=1.47;ReadPosRankSum=-1.084e+00;SOR=2.019	GT:AD:DP:GQ:PL	0/1:97,14:111:59:59,0,2537	18	0	3	0
chr12	52949315	52949315	G	C	exonic	KRT18	.	nonsynonymous SNV	KRT18:NM_000224:exon1:c.G142C:p.V48L	Cirrhosis, cryptogenic, Autosomal recessive	.	400	768	347	0	7	354	0.18428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.65	P	0.223	B	0.138	N	1.000	N	2.865	M	-1.57	D	-0.406	T	0.471	T	0.427	2.081	12.91	0.954	0.219	-0.441	7.665	0.446	0.210614070419	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1359140246	6.957e-07	0.0003	0	1.399e-06	3.037e-05	0	0	.	.	3.037e-05	0	0	0	0	0	0	0	0	0.0011	0.0092	0.0010	0.0012	0.0024	0.0010	0.0009	0.0013	0.0012	0.0003	0.0024	0.0008	0.0021	0	0.0016	0	0.0015	0.0016	0.0024	0.187	0.21385	T	0.404	0.14818	T	0.519	0.40644	P	0.111	0.37929	B	0.138376	0.18380	N	0.416972	1	0.81001	D	2.265	0.64440	M	-1.57	0.82347	D	-1.0	0.26422	N	0.082	0.05799	-0.4056	0.71850	T	0.471	0.79663	T	10	0.083414674	0.13874	T	0.210614	0.87261	D	0.446	0.74797	0.415	0.45380	0.860313002099	0.85896	0.7160274570190178	0.71545	0.531599379089	0.50652	0.573910236359	0.49230	T	0.147259	0.48525	T	0.0174853	0.54042	T	-0.21266	0.53441	T	0.265387445688248	0.23549	T	0.0516948	0.00385	T	0.047216356	0.08035	0.043877922	0.05557	0.047216356	0.08035	0.043877922	0.05557	-4.986	0.36687	T	0.2609872102591527	0.35238	0.319	0.56786	B	.;.;.	.;.;.	0.909457	0.12836	9.352	0.95101178256288821	0.26176	0.54699	0.29680	D	AEFDBHCI	0.804658	0.72946	D	-0.508296202011104	0.21811	1.160241	-0.604811601927955	0.19369	1.038886	0.999992841170832	0.74766	0.733237	0.96898	0	0.609123	0.50646	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	3.79	0.954	0.18719	-0.106000	0.10860	.	.	-0.227000	0.07798	0.000000	0.06391	0.005000	0.19230	0.311000	0.24761	0.3008:0.0:0.6992:0.0	7.665	0.27595	769	0.49307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	15089.32	89	chr12	52949315	.	G	A,C	15089.32	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.47;DP=1835;ExcessHet=54.0936;FS=3.984;InbreedingCoeff=-1.0000;MLEAC=20,1;MLEAF=0.476,0.024;MQ=56.35;MQRankSum=-9.015e+00;QD=8.31;ReadPosRankSum=-4.930e-01;SOR=1.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,28,0:97:99:0|1:52949249_G_A:968,0,2813,1176,2897,4073:52949249	0	0	20	0
chr12	53716343	53716343	C	G	exonic	CALCOCO1	.	nonsynonymous SNV	CALCOCO1:NM_020898:exon8:c.G922C:p.E308Q,	.	.	425	1091	5	1	0	7	0.00319781	.	.	3302488	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.56	T	0.04	B	0.091	B	0.007	N	1.000	N	0.895	L	2.86	T	-0.959	T	0.019	T	0.256	0.532	6.880	2.97	0.757	0.913	7.475	0.030	0.00856927819412	0.0005	0.000798722	0.0007	0	0.0013	0	0	0.0009	0.0033	0.0005	0.0006727	104	154602	rs140181365	0.0005	0.0005	0.0005	0.0005	0.0111	0.0005	0.0005	0.0089	0.0081	0.0004	0.0011	0.0049	0	1.872e-05	0.0111	0.0003	0.0015	0.0006	0.0005	0.0005	0.0004	0.0006	0.0010	0.0004	0.0004	0.0006	0.0004	0.0001	0	0.0009	0.0037	0	0	0.0068	0.0005	0.0009	0.0010	0.157	0.23997	T	0.526	0.10245	T	0.032	0.21238	B	0.034	0.26280	B	0.006809	0.31785	N	0.146929	1	0.81001	D	1.355	0.33814	L	2.84	0.10674	T	-0.35	0.12847	N	0.24	0.29889	-0.9594	0.39293	T	0.019	0.07986	T	10	0.0077368915	0.00176	T	0.008569	0.22655	T	0.030	0.07022	.	.	0.151104730317	0.14643	0.3164693061681868	0.31559	0.244982612967	0.27023	0.31140935421	0.12120	T	0.012356	0.10875	T	-0.507691	0.00517	T	-0.558387	0.16528	T	0.00988002194610576	0.00131	T	0.633837	0.24812	T	0.05197449	0.09625	0.044320863	0.05715	0.05197449	0.09625	0.044320863	0.05714	-3.663	0.20327	T	.	.	0.080	0.07745	B	.;.;.	.;.;.	2.063355	0.26240	17.05	0.89018100308257853	0.18443	0.82376	0.41613	D	AEFBI	0.152266	0.27691	N	-0.639536948189507	0.17766	0.9169609	-0.513776436114731	0.21779	1.179785	3.73192485777946E-4	0.06745	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.78	2.97	0.33479	0.933000	0.28497	3.998000	0.41048	-0.171000	0.11205	0.989000	0.36753	0.999000	0.35428	0.478000	0.28520	0.0:0.8073:0.0:0.1927	7.475	0.26541	163	0.93656	.;.;Calcium binding and coiled-coil domain-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1246.98	34	chr12	53716343	.	C	G	1246.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.163e+00;DP=831;ExcessHet=0.0000;FS=3.306;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=-1.306e+00;SOR=0.915	GT:AD:DP:GQ:PL	0/1:64,57:121:99:1261,0,1624	20	0	1	0
chr12	54363394	54363394	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C458T:p.A153V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	1.0	D	0.991	D	0.000	D	1.000	D	0.89	L	-0.52	T	-0.552	T	0.368	T	0.759	4.080	21.0	5.02	2.496	2.102	16.201	0.403	0.0237397125168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345501624	2.755e-06	2.742e-06	1.372e-06	4.151e-06	3.627e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.627e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.011	0.64786	D	1.0	0.90584	D	0.991	0.79672	D	0.000478	0.44119	D	0.088981	0.999998	0.58761	D	1.465	0.36909	L	-0.52	0.70717	T	0.23	0.04613	N	0.196	0.21580	-0.5516	0.66726	T	0.368	0.72788	T	10	0.3502603	0.51901	T	0.02374	0.46713	T	0.403	0.71636	0.571	0.69431	0.809007091605	0.80721	0.2760080514280935	0.27513	0.162976829088	0.18394	0.490764260292	0.37544	T	0.005184	0.04625	T	0.118655	0.66237	D	-0.0673364	0.65815	T	0.74129194021225	0.42806	D	0.725127	0.33902	T	0.11525833	0.27201	0.15893412	0.37092	0.11525833	0.27201	0.15893412	0.37091	-4.201	0.26766	T	.	.	0.081	0.08224	B	.;.	.;.	3.791423	0.54572	23.5	0.99915949351705269	0.98379	0.88390	0.48296	D	AEFBI	0.518746	0.54431	D	0.36141034936137	0.59345	4.113099	0.384589246084373	0.60614	4.250998	0.999999998215978	0.74766	0.497415	0.19182	0	0.541556	0.11502	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	1.850000	0.38968	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	16.201	0.81895	686	0.59327	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3125	972.57	59	chr12	54363394	.	G	A	972.57	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.390e+00;DP=1918;ExcessHet=6.1002;FS=237.561;InbreedingCoeff=-0.4326;MLEAC=12;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.94;ReadPosRankSum=0.851;SOR=11.822	GT:AD:DP:GQ:PL	0/1:77,37:128:99:120,0,1653	6	0	10	5
chr12	54363770	54363770	C	-	exonic	GPR84	.	frameshift deletion	GPR84:NM_020370:exon2:c.82delG:p.V28Wfs*5,	.	.	428	1092	1	1	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0177	.	8.353e-05	0	8.749e-05	0	0	0.0001	0	6.289e-05	6.47e-05	10	154602	rs759103894	5.063e-05	5.746e-05	4.357e-05	5.777e-05	0.0005	4.126e-05	3.779e-05	0.0001	7.541e-05	0	4.473e-05	0	0	0	0.0005	5.216e-05	9.937e-05	5.798e-05	5.924e-05	5.913e-05	9.006e-05	2.696e-05	0.0001	3.082e-05	2.214e-05	5.847e-05	4.243e-05	0	0	6.557e-05	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1030.94	38	chr12	54363769	.	AC	A	1030.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.600e-02;DP=865;ExcessHet=0.0000;FS=0.823;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=1.94;SOR=0.551	GT:AD:DP:GQ:PL	0/1:45,41:86:99:1045,0,1162	20	0	1	0
chr12	54405898	54405898	C	T	exonic	ITGA5	.	nonsynonymous SNV	ITGA5:NM_002205:exon10:c.G935A:p.R312Q,	.	.	430	1085	7	0	0	7	0.00321543	.	.	713621	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.65	T	0.02	B	0.003	B	0.197	N	0.999	N	0.25	N	2.0	T	-0.962	T	0.022	T	0.091	1.012	9.133	-0.131	0.072	-0.604	8.640	0.019	.	.	0.00998403	0.0066	0	8.639e-05	0.0001	0	7.493e-05	0.0055	0.0480	0.0057502	889	154602	rs200642938	0.0029	0.0029	0.0016	0.0042	0.0462	0.0028	0.0028	0.0450	0.0445	2.987e-05	0	0	0.0001	1.873e-05	0.0038	7.195e-05	0.0024	0.0462	0.0014	0.0015	0.0008	0.0022	0.0438	0.0013	0.0012	0.0390	0.0371	2.409e-05	0	6.543e-05	0	0.0002	0	0	8.825e-05	0	0.0438	0.63	0.05152	T	0.629	0.07220	T	0.02	0.18235	B	0.003	0.08700	B	0.197463	0.16686	N	0.597438	0.998776	0.21918	N	.	.	.	2.0	0.21473	T	0.17	0.05125	N	0.146	0.14763	-0.9621	0.38781	T	0.022	0.09421	T	10	0.0018360019	0.00025	T	.	.	.	0.019	0.03383	.	.	0.244449712813	0.24043	0.36604789461126475	0.36518	0.359438089845	0.37635	0.205252125859	0.00625	T	0.205563	0.56466	T	-0.683526	0.00046	T	-0.720307	0.04781	T	0.0298764488390256	0.01970	T	0.606339	0.22814	T	0.09642578	0.22712	0.06858754	0.14344	0.09642578	0.22711	0.06858754	0.14343	-4.591	0.32058	T	.	.	0.074	0.05274	B	.	.	1.851172	0.23518	16.05	0.90458860752526327	0.19717	0.09942	0.15581	N	AEFGBCI	0.058386	0.10951	N	-1.01411365760242	0.08310	0.389209	-0.903179767292804	0.12018	0.6158372	0.99999797527629	0.74766	0.67177	0.52595	0	0.627178	0.54094	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.82	-0.131	0.12835	-0.912000	0.04155	-0.576000	0.08401	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.0:0.5514:0.0:0.4486	8.640	0.33132	529	0.73716	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1089.98	34	chr12	54405898	.	C	T	1089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=812;ExcessHet=0.0000;FS=5.526;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=-5.570e-01;SOR=0.694	GT:AD:DP:GQ:PL	0/1:40,42:82:99:1104,0,899	20	0	1	0
chr12	54854641	54854641	G	T	splicing	MUCL1	NM_058173:exon1:c.58+1G>T	.	.	.	.	437	1080	3	2	0	7	0.00323027	0.9999	0.616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	-0.253	2.781	-0.273	-0.064	0.042	4.446	.	.	0.0002	0.00878594	0.0050	0.0003	0.0002	0	0	3.008e-05	0.0022	0.0362	0.0043466	672	154602	rs142903254	0.0021	0.0021	0.0012	0.0031	0.0336	0.0021	0.0020	0.0326	0.0322	0.0001	2.242e-05	0	2.522e-05	0	0.0010	5.944e-05	0.0024	0.0336	0.0013	0.0013	0.0007	0.0020	0.0396	0.0012	0.0011	0.0350	0.0333	7.227e-05	0	0	0	0	0	0	5.881e-05	0.0005	0.0396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.20694	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.745035	0.00019	T	-0.816508	0.01524	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.602264	0.50884	23.0	0.47374309916668028	0.03868	0.06979	0.13005	N	AEFDBCI	.	.	.	0.117304720701423	0.47271	2.955087	-0.302426478150789	0.28021	1.559088	5.56053735295661E-4	0.07304	0.056015	0.00742	1	0.059962	0.00310	0	0.060301	0.00762	0	0.076217	0.02064	0	0.0803246	0.18482	3.28	-0.273	0.12276	0.058000	0.14178	-3.551000	0.02702	0.676000	0.76740	0.193000	0.24225	0.000000	0.08366	0.086000	0.17578	0.1959:0.2048:0.5993:0.0	4.446	0.11018	624	0.65661	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1244.98	40	chr12	54854641	.	G	T	1244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.210e-01;DP=894;ExcessHet=0.0000;FS=0.704;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=0.046;SOR=0.598	GT:AD:DP:GQ:PL	0/1:57,56:113:99:1259,0,1315	20	0	1	0
chr12	55427175	55427175	-	A	exonic	OR6C76	.	frameshift insertion	OR6C76:NM_001005183:exon1:c.922dupA:p.H312Tfs*2,	.	.	20	137	43	12	14	81	0.196481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3673.16	49	chr12	55427174	.	CA	C,CAA	3673.16	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=0.114;DP=906;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3243;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=0.243;SOR=0.727	GT:AD:DP:GQ:PL	0/1:18,23,0:42:99:492,0,368,605,463,1257	11	0	9	0
chr12	56716773	56716773	G	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.C4757G:p.T1586S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	B	0.014	B	.	.	1.000	N	.	.	0.86	T	-1.034	T	0.064	T	0.05	0.296	5.604	0.899	-0.131	1.411	4.156	0.039	0.00305659900259	.	.	9.816e-06	0	0	0	0	1.699e-05	0	0	6.5e-06	1	154602	rs767225318	1.64e-06	2.736e-06	1.602e-06	1.679e-06	2.057e-06	2.7e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.057e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.991	0.02359	T	0.068	0.23728	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	.	.	.	0.86	0.46777	T	0.5	0.02945	N	0.101	0.08366	-1.0337	0.19268	T	0.064	0.26420	T	7	0.065919876	0.08966	T	0.003057	0.06606	T	0.039	0.10176	0.258	0.20002	0.143124449307	0.13826	.	.	.	.	.	.	.	0.054013	0.29605	T	-0.338711	0.05478	T	-0.678114	0.07099	T	0.0160011250896684	0.00381	T	0.29797	0.05545	T	0.088434465	0.20628	0.04913326	0.07443	0.088434465	0.20628	0.04913326	0.07442	-6.613	0.51153	T	.	.	0.185	0.40065	B	.	.	0.222103	0.06044	2.485	0.22551627331878571	0.00912	0.30145	0.24006	N	AEFDBHCI	0.103815	0.20788	N	-0.895325869115206	0.10953	0.5260411	-0.976878655503586	0.10306	0.5182001	0.999970967611248	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	0.899	0.18403	0.283000	0.18605	0.707000	0.20898	0.520000	0.23804	0.000000	0.06391	0.034000	0.21380	0.175000	0.21139	0.2912:0.0:0.546:0.1628	4.156	0.09728	45	0.97767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	801.6	63	chr12	56716773	.	G	C	801.6	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-3.814e+00;DP=1566;ExcessHet=6.1002;FS=143.092;InbreedingCoeff=-0.3330;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=1.05;ReadPosRankSum=0.671;SOR=10.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:55,12:69:67:.:.:67,0,1269	11	0	10	0
chr12	57466282	57466282	G	A	exonic	GLI1	.	nonsynonymous SNV	GLI1:NM_001160045:exon6:c.G421A:p.V141M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.912	D	0.001	D	1.000	D	3.125	M	-3.29	D	1.016	D	0.894	D	0.523	3.180	16.64	4.03	2.247	9.561	15.483	0.690	0.389102162449	.	.	0.0001	0	0	0	0	0	0	0.0008	8.41e-05	13	154602	rs758378363	5.131e-05	5.13e-05	3.131e-05	7.151e-05	0.0008	4.192e-05	3.824e-05	0.0006	0.0006	0	0	0	2.519e-05	0	0	4.497e-06	6.624e-05	0.0008	1.972e-05	1.97e-05	0	4.035e-05	0.0006	5.24e-06	2.45e-06	0.0002	9e-05	0	0	0	0	0	0	0	0	0	0.0006	0.0	0.91255	D	0.002	0.92824	D	0.999	0.77913	D	0.912	0.64797	D	0.000699	0.42383	D	0.000000	0.999999	0.58761	D	2.63	0.76995	M	-3.29	0.93740	D	-2.99	0.62151	D	0.584	0.68429	1.016	0.97464	D	0.894	0.96498	D	10	0.5605143	0.64761	D	0.389102	0.93147	D	0.690	0.88726	.	.	0.953943295139	0.95345	0.3686905148116702	0.36783	0.702873162905	0.61236	0.811972856522	0.83795	D	0.838304	0.96206	D	-0.0447745	0.45238	T	0.0901035	0.76254	D	0.524071276187897	0.33515	D	0.982802	0.96238	D	0.60063523	0.72725	0.4811052	0.69951	0.60063523	0.72726	0.4811052	0.69952	-9.422	0.70373	D	.	.	0.907	0.83217	P	.;.;.;.;.	.;.;.;.;.	4.677190	0.74812	26.2	0.99872480830722199	0.94989	0.98483	0.83254	D	AEFBI	0.943360	0.94912	D	0.722645689235138	0.81118	7.447723	0.581243044712389	0.73597	5.996359	0.999999999999595	0.74766	0.634777	0.41761	0	0.550933	0.16991	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	4.03	4.03	0.46115	9.968000	0.99102	11.494000	0.92938	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	15.483	0.75275	287	0.88635	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1704.98	35	chr12	57466282	.	G	A	1704.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=921;ExcessHet=0.0000;FS=1.234;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.40;ReadPosRankSum=-3.600e-02;SOR=0.834	GT:AD:DP:GQ:PL	0/1:92,72:164:99:1719,0,2260	20	0	1	0
chr12	70353915	70353915	A	-	exonic	CNOT2	.	nonframeshift deletion	CNOT2:NM_001199303:exon16:c.1623delA:p.X541X	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/2:6,0,8,0:14:76:97,114,213,0,99,76,114,213,99,213	3	0	8	0
chr12	70353915	70353915	-	A	exonic	CNOT2	.	nonframeshift insertion	CNOT2:NM_001199303:exon16:c.1623dupA:p.X541delinsX	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/2:6,0,8,0:14:76:97,114,213,0,99,76,114,213,99,213	3	0	8	0
chr12	70635944	70635944	G	A	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001109754:exon2:c.C178T:p.L60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.777	P	0.396	B	.	.	1.000	D	0.55	N	0.89	T	-1.071	T	0.085	T	0.103	3.967	20.3	5.15	1.539	4.327	14.440	0.034	0.0214511850333	8e-05	.	8.491e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs372428385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.567e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.171	0.91255	T	0.141	0.47097	T	0.069	0.33860	B	0.063	0.32896	B	.	.	.	.	0.949216	0.26544	N	.	.	.	0.89	0.45636	T	-0.76	0.25770	N	0.274	0.33469	-1.0714	0.09108	T	0.085	0.33099	T	9	0.1482369	0.28075	T	0.021451	0.44220	T	0.034	0.08419	.	.	0.176862962021	0.17281	0.6354880301755313	0.63482	0.53492471946	0.50878	0.479680240154	0.36012	T	0.059314	0.33423	T	-0.220665	0.17902	T	-0.554746	0.16873	T	0.932623505592346	0.59881	D	0.69863	0.31478	T	.	.	.	.	.	.	.	.	-5.511	0.41971	T	.	.	0.473	0.64929	A	.;.;.;.	.;.;.;.	3.602507	0.50895	23.0	0.99859623691552357	0.93820	0.85685	0.44845	D	AEFDBHCI	0.862088	0.78030	D	-0.0241969775281813	0.40761	2.42629	0.155470530023144	0.47434	2.973584	0.999999999861969	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.00508	0.00061	3	.	.	6.04	5.15	0.70287	4.423000	0.59610	6.674000	0.56288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.0711:0.0:0.9289:0.0	14.440	0.66887	670	0.60992	.;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	32.1	46	chr12	70635944	.	G	A	32.1	.	AC=4;AF=0.143;AN=28;BaseQRankSum=-3.245e+00;DP=1302;ExcessHet=0.6776;FS=145.640;InbreedingCoeff=-0.2101;MLEAC=3;MLEAF=0.107;MQ=60.00;MQRankSum=0.00;QD=0.11;ReadPosRankSum=1.01;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,18:78:5:.:.:5,0,1219	10	0	4	7
chr12	76031521	76031521	C	T	exonic	PHLDA1	.	nonsynonymous SNV	PHLDA1:NM_007350:exon1:c.G221A:p.R74K,	.	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.003	B	0.006	B	.	.	0.998	N	0.69	N	0.78	T	-1.033	T	0.035	T	0.091	2.993	15.98	3.56	1.050	0.686	10.803	0.046	.	0.0014	0.00738818	0.0024	0.0379	0.0022	0	0	0	0	0	0.0007697	119	154602	rs189197382	0.0004	0.0004	0.0004	0.0003	0.0139	0.0003	0.0003	0.0127	0.0123	0.0139	0.0006	0	0	0	0.0007	9.329e-06	0.0009	1.329e-05	0.0032	0.0032	0.0033	0.0031	0.0113	0.0030	0.0029	0.0104	0.0101	0.0113	0	0.0010	0	0	0	0.0103	4.413e-05	0	0	0.023	0.48186	D	0.324	0.18903	T	0.003	0.11197	B	0.006	0.12133	B	.	.	.	.	0.997831	0.22484	N	0.55	0.14455	N	0.78	0.49358	T	-0.26	0.11185	N	0.265	0.30004	-1.0334	0.19363	T	0.035	0.15030	T	9	0.0043812096	0.00089	T	.	.	.	0.046	0.12618	.	.	0.549504238362	0.54606	0.21013222864665462	0.20929	0.928427692888	0.71722	0.896257638931	0.96014	D	0.026965	0.19847	T	-0.56285	0.00244	T	-0.568947	0.15545	T	0.0170639004550477	0.00453	T	0.448855	0.12628	T	0.23247918	0.46036	0.30734485	0.56757	0.23247918	0.46036	0.30734485	0.56756	-5.575	0.42563	T	.	.	0.228	0.48428	B	.;.	.;.	3.335531	0.45935	22.2	0.98368071808550217	0.40719	0.12855	0.17520	N	AEFGBHCIJ	0.228734	0.35236	N	-0.454203473610863	0.23598	1.268336	-0.342805826459707	0.26732	1.478487	1.0	0.98316	0.441713	0.08003	0	0.218748	0.04544	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.46	3.56	0.39892	1.460000	0.34855	7.309000	0.58118	0.524000	0.24156	0.856000	0.30544	1.000000	0.68203	0.982000	0.59238	0.19:0.81:0.0:0.0	10.803	0.45704	838	0.37812	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	719.98	35	chr12	76031521	.	C	T	719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.170e-01;DP=857;ExcessHet=0.0000;FS=2.323;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.33;ReadPosRankSum=1.00;SOR=0.498	GT:AD:DP:GQ:PL	0/1:27,27:54:99:734,0,816	20	0	1	0
chr12	76059802	76059802	A	G	exonic	NAP1L1	.	nonsynonymous SNV	NAP1L1:NM_001330232:exon4:c.T236C:p.I79T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.741	P	0.287	B	0.000	D	1.000	D	0.505	N	1.0	T	-1.072	T	0.067	T	0.312	2.059	12.84	5.49	2.213	9.009	12.985	0.154	0.0140890462673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.298e-05	0.0001	1.007e-05	1.59e-05	3.167e-05	8.11e-06	6.69e-06	6.9e-06	5.32e-06	3.167e-05	0	0	0	0	0	1.237e-05	3.459e-05	2.454e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.58626	T	0.515	0.10643	T	0.741	0.42992	P	0.232	0.40572	B	0.000212	0.47681	D	0.219991	0.940363	0.81001	D	1.35	0.33515	L	1.0	0.41392	T	-1.96	0.50666	N	0.224	0.26111	-1.0717	0.09043	T	0.067	0.27708	T	10	0.21725681	0.38332	T	0.014089	0.33970	T	0.154	0.40340	0.451	0.51285	0.265735104816	0.26182	0.28783724609276506	0.28696	0.828852337507	0.67540	0.57043671608	0.48739	T	0.091695	0.38850	T	-0.0750447	0.40518	T	-0.345573	0.39712	T	0.783953189849854	0.45299	D	0.659534	0.37862	T	0.10568608	0.24989	0.1311999	0.31509	0.10568608	0.24989	0.1311999	0.31508	-8.678	0.65603	D	.	.	0.270	0.65692	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.388031	0.67691	25.1	0.9712404844935334	0.32469	0.99811	0.99622	D	AEFBI	0.923144	0.89919	D	0.0872240292922002	0.45869	2.836197	0.26620784129639	0.53577	3.525932	0.999999917027058	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.49	5.49	0.81022	9.263000	0.94779	11.266000	0.91241	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.8656:0.1344:0.0:0.0	12.985	0.57988	934	0.15400	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	575.92	35	chr12	76059802	.	A	G	575.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.663e+00;DP=1238;ExcessHet=0.6776;FS=149.322;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=1.36;ReadPosRankSum=-1.420e-01;SOR=9.129	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,21:125:99:0|1:76059802_A_G:114,0,3179:76059802	17	0	4	0
chr12	102958405	102958405	-	GCA	exonic	ASCL1	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.161_162insGCA:p.Q62_A63insQ,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:5,22,0,0,0:27:99:803,0,124,818,190,1008,818,190,1008,1008,818,190,1008,1008,1008	6	1	11	0
chr12	102958405	102958405	-	GCAGCA	exonic	ASCL1	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.161_162insGCAGCA:p.Q62_A63insQQ,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:5,22,0,0,0:27:99:803,0,124,818,190,1008,818,190,1008,1008,818,190,1008,1008,1008	6	1	11	0
chr12	102958403	102958405	GCA	-	exonic	ASCL1	.	nonframeshift deletion	ASCL1:NM_004316:exon1:c.159_161del:p.Q62del,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:5,22,0,0,0:27:99:803,0,124,818,190,1008,818,190,1008,1008,818,190,1008,1008,1008	6	1	11	0
chr12	102958394	102958405	GCAGCAGCAGCA	-	exonic	ASCL1	.	nonframeshift deletion	ASCL1:NM_004316:exon1:c.150_161del:p.Q59_Q62del,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	254390	not_specified|Phenylketonuria	MedGen:CN169374|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416400102	0.0008	0.0008	0.0007	0.0008	0.0025	0.0007	0.0007	0.0021	0.0019	0.0025	0.0008	0.0058	0.0008	0	0.0012	0.0005	0.0013	0.0019	0.0015	0.0015	0.0013	0.0016	0.0029	0.0013	0.0013	0.0025	0.0023	0.0029	0	0.0012	0.0069	0.0004	0	0	0.0007	0.0014	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:5,22,0,0,0:27:99:803,0,124,818,190,1008,818,190,1008,1008,818,190,1008,1008,1008	6	1	11	0
chr12	108292437	108292437	C	T	exonic	CMKLR1	.	nonsynonymous SNV	CMKLR1:NM_001142344:exon3:c.G526A:p.V176I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.005	B	0.01	B	0.060	N	1.000	N	1.095	L	-0.56	T	-0.958	T	0.162	T	0.09	0.254	5.373	-0.993	-0.222	-0.421	10.195	0.067	0.0273439033869	.	.	.	.	.	.	.	.	.	.	.	.	.	rs905167425	8.893e-06	8.893e-06	6.806e-06	1.1e-05	0.0003	4.96e-06	3.82e-06	6.092e-05	2.521e-05	2.987e-05	2.236e-05	0	2.519e-05	0	0.0003	5.396e-06	1.656e-05	1.159e-05	1.315e-05	1.314e-05	0	2.694e-05	0.0001	2.19e-06	8.2e-07	2.263e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.651	0.04832	T	0.724	0.05274	T	0.005	0.12996	B	0.01	0.14941	B	0.059913	0.22288	N	0.490836	0.999823	0.20203	N	0.465	0.13073	N	-0.56	0.71187	T	-0.06	0.07882	N	0.058	0.03841	-0.9582	0.39516	T	0.162	0.49831	T	10	0.094821244	0.16888	T	0.027344	0.50169	D	0.067	0.19503	0.458	0.52427	0.636416215821	0.63342	0.14089208706169173	0.14012	0.129099127502	0.14556	0.329607546329	0.14874	T	0.036568	0.24153	T	-0.358111	0.04238	T	-0.57065	0.15391	T	0.0168518043360703	0.00438	T	0.806319	0.45571	T	0.04994715	0.08948	0.047388133	0.06815	0.04994715	0.08948	0.047388133	0.06815	-3.21	0.12826	T	.	.	0.081	0.08465	B	.;.;.;.	.;.;.;.	0.523643	0.08922	5.705	0.82017418267376707	0.13976	0.03847	0.09199	N	AEFDBI	0.099122	0.19960	N	-0.959821576537024	0.09474	0.44851	-0.908324219586581	0.11898	0.6089269	0.998713083750343	0.37518	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.32	-0.993	0.09706	-0.645000	0.05506	-2.021000	0.04333	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.983000	0.59808	0.0:0.5058:0.0:0.4942	10.195	0.42225	893	0.26510	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2639.98	34	chr12	108292437	.	C	T	2639.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=953;ExcessHet=0.0000;FS=5.022;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=-1.098e+00;SOR=0.748	GT:AD:DP:GQ:PL	0/1:93,100:193:99:2654,0,2194	20	0	1	0
chr12	109410039	109410039	C	T	exonic	MYO1H	.	stopgain	MYO1H:NM_001101421:exon11:c.C1252T:p.Q418X,	.	.	442	1077	3	0	0	3	0.00139082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	6.641	38	5.0	2.485	7.669	17.660	.	.	.	.	0.0004	0	0.0020	0	0	0	0.0039	0.0009	7.12e-05	11	154602	rs759463407	7.146e-05	7.388e-05	4.701e-05	9.658e-05	0.0009	5.982e-05	5.55e-05	0.0006	0.0005	0	5.806e-05	4.02e-05	0	0	0.0009	2.799e-05	0.0001	0.0007	4.6e-05	4.597e-05	5.139e-05	4.035e-05	0.0006	2.109e-05	1.527e-05	0.0002	8.985e-05	2.412e-05	0	6.554e-05	0	0	0	0	2.939e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.529	0.55799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367026	0.87793	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	9.682441	0.99209	42	0.99846897925528022	0.92663	0.98759	0.86488	D	AEFI	0.354430	0.44651	N	1.15526872121287	0.99032	20.35969	0.993914790484444	0.98506	18.474	0.999999223283159	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.0	5.0	0.66209	7.858000	0.85341	7.581000	0.60964	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	17.660	0.88096	.	.	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1129.98	35	chr12	109410039	.	C	T	1129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.810e-01;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=0.622;SOR=0.773	GT:AD:DP:GQ:PL	0/1:39,52:91:99:1144,0,814	20	0	1	0
chr12	111598993	111598993	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	.	265	331	379	543	4	1469	0.688764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	29227.06	33	chr12	111598993	.	C	*,T	29227.06	.	AC=3,29;AF=0.071,0.690;AN=42;BaseQRankSum=-2.220e-01;DP=1084;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=3,29;MLEAF=0.071,0.690;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=-7.290e-01;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:28,0,37:65:99:0|1:111598949_GGCT_G:919,1001,1769,0,768,657:111598949	2	0	0	0
chr12	113169824	113169824	G	A	exonic	DDX54	.	nonsynonymous SNV	DDX54:NM_001111322:exon12:c.C1360T:p.H454Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.97	D	0.729	P	0.000	D	1.000	D	1.565	L	2.87	T	-1.189	T	0.054	T	0.764	4.337	22.8	5.24	2.455	7.951	18.427	0.217	0.010577357473	.	.	1.665e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs777223531	2.736e-06	2.736e-06	1.361e-06	4.125e-06	4.637e-05	6.4e-07	4.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	0	0	4.637e-05	6.572e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	0.002	0.72154	D	0.006	0.70582	D	0.97	0.56973	D	0.729	0.55225	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.295	0.32453	L	2.87	0.10386	T	-5.29	0.84315	D	0.511	0.54234	-1.1891	0.00252	T	0.054	0.22883	T	10	0.42859575	0.57340	T	0.010577	0.27281	T	0.217	0.51112	0.627	0.76254	0.18274738541	0.17906	0.8608281630213958	0.86046	0.455561052651	0.45228	0.729314982891	0.71406	T	0.124876	0.45020	T	-0.0693291	0.41436	T	-0.155835	0.58725	T	0.758163928985596	0.43747	D	0.940673	0.77758	D	0.85741454	0.87889	0.75140464	0.85306	0.85741454	0.87891	0.75140464	0.85307	-8.898	0.67077	D	.	.	0.106	0.27131	B	.;.	.;.	4.154012	0.62332	24.4	0.99767069142255627	0.85583	0.98350	0.81890	D	AEFDBCI	0.898421	0.84170	D	0.558400838919353	0.70596	5.524655	0.573230572267328	0.73025	5.903735	0.999999999937356	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	8.099000	0.89378	7.538000	0.60033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:1.0:0.0	18.427	0.90557	719	0.55657	.;Helicase, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1709.98	36	chr12	113169824	.	G	A	1709.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.163e+00;DP=888;ExcessHet=0.0000;FS=1.278;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-7.170e-01;SOR=0.817	GT:AD:DP:GQ:PL	0/1:78,72:150:99:1724,0,1940	20	0	1	0
chr12	118068526	118068528	TCC	-	exonic	VSIG10	.	nonframeshift deletion	VSIG10:NM_019086:exon8:c.1416_1418del:p.E474del,	.	.	0	151	56	5	14	80	0.179348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	16579.07	36	chr12	118068522	.	TTCCTCC	T,TTCC	16579.07	.	AC=6,3;AF=0.143,0.071;AN=42;BaseQRankSum=-4.740e-01;DP=1421;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0101;MLEAC=6,3;MLEAF=0.143,0.071;MQ=60.00;MQRankSum=0.00;QD=22.40;ReadPosRankSum=0.739;SOR=0.686	GT:AD:DP:GQ:PL	1/1:0,117,0:117:99:5007,354,0,5007,354,5007	13	1	4	0
chr12	119757525	119757525	A	G	exonic	CIT	.	nonsynonymous SNV	CIT:NM_007174:exon21:c.T2426C:p.I809T	Microcephaly 17, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.989	D	0.985	D	0.000	D	1.000	D	0.805	L	-0.27	T	-0.412	T	0.341	T	0.915	4.636	25.4	5.54	2.107	8.708	15.665	0.446	0.0205614352889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.046	0.49120	D	0.981	0.59675	D	0.966	0.71341	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	-0.39	0.69158	T	-1.77	0.41809	N	0.876	0.87373	-0.4120	0.71646	T	0.341	0.70648	T	10	0.58350486	0.65980	D	0.020561	0.43179	T	0.446	0.74797	0.211	0.12923	0.926322381863	0.92557	0.42088548963450106	0.42004	1.79519715807	0.91566	0.922384262085	0.98500	D	0.361336	0.72744	T	0.330183	0.85179	D	0.236509	0.84984	D	0.808945838615611	0.46972	D	0.976102	0.94694	D	0.17658952	0.38579	0.22033578	0.46806	0.17658952	0.38578	0.22033578	0.46805	-12.941	0.89118	D	0.2072796788609869	0.27701	0.994	0.95110	P	.;.	.;.	4.146015	0.62150	24.4	0.99856906937325962	0.93548	0.99031	0.90217	D	AEFBI	0.886036	0.81709	D	0.501868630553341	0.67199	5.050096	0.583478062151277	0.73756	6.022732	0.999999982178766	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	8.694000	0.91018	11.293000	0.92086	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.665	0.76972	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	146.99	34	chr12	119757525	.	A	G	146.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.078e+00;DP=1073;ExcessHet=0.0000;FS=131.243;InbreedingCoeff=-0.0253;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.67;ReadPosRankSum=0.254;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,20:88:99:.:.:161,0,1800	20	0	1	0
chr12	123928550	123928550	A	G	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon69:c.A11915G:p.K3972R	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.007	B	0.027	B	0.050	N	1.000	N	1.375	L	3.07	T	-1.015	T	0.021	T	0.081	1.779	11.91	2.12	0.113	2.980	9.664	0.034	0.00552301942405	.	.	2.684e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs745736549	8.233e-06	8.209e-06	6.822e-06	9.66e-06	0.0003	4.39e-06	3.47e-06	6.094e-05	2.522e-05	0	6.786e-05	0	0	0	0.0003	1.802e-06	4.982e-05	2.347e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	0.007	0.14184	B	0.027	0.21085	B	0.050422	0.23072	N	0.477219	0.999989	0.18198	N	1.575	0.39704	L	.	.	.	.	.	.	.	.	-1.0149	0.25368	T	0.021	0.08870	T	10	0.09904829	0.17948	T	0.005523	0.14227	T	0.034	0.08419	0.378	0.39319	0.180583059064	0.17676	0.1708726894579674	0.17007	0.11970570795	0.13485	0.370971620083	0.20971	T	0.003093	0.02494	T	-0.436358	0.01359	T	-0.681183	0.06911	T	0.0863466635346413	0.10778	T	0.784022	0.42156	T	0.117614016	0.27725	0.14675549	0.34757	0.117614016	0.27725	0.14675549	0.34756	-6.633	0.51304	T	.	.	0.075	0.05404	B	.;.	.;.	2.007954	0.25515	16.79	0.97751864681114131	0.35751	0.74673	0.36535	D	AEFDBHCIJ	0.190549	0.31777	N	-0.436954080257398	0.24185	1.304069	-0.308316191219833	0.27830	1.547036	0.999999501191919	0.74766	0.764865	0.99124	0	0.628146	0.54582	0	0.685742	0.62368	0	0.542086	0.14980	0	.	.	5.76	2.12	0.26372	2.954000	0.48806	1.920000	0.29703	-0.065000	0.16512	0.984000	0.35821	0.470000	0.25048	0.856000	0.40543	0.8027:0.0:0.1973:0.0	9.664	0.39136	749	0.51929	Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	809.98	33	chr12	123928550	.	A	G	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.204e+00;DP=783;ExcessHet=0.0000;FS=2.701;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.10;ReadPosRankSum=-1.499e+00;SOR=0.986	GT:AD:DP:GQ:PL	0/1:62,38:100:99:824,0,1658	20	0	1	0
chr12	124402521	124402521	-	GCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGCAGC:p.Q509_P510insQQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	0/2:28,0,31,0,0:59:99:1069,1154,2248,0,1094,1002,1154,2248,1094,2248,1154,2248,1094,2248,2248	0	1	2	0
chr12	124402521	124402521	-	GCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGC:p.Q509_P510insQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	0/2:28,0,31,0,0:59:99:1069,1154,2248,0,1094,1002,1154,2248,1094,2248,1154,2248,1094,2248,2248	0	1	2	0
chr12	124402521	124402521	-	GCTGCTGCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGCAGCAGCAGC:p.Q509_P510insQQQQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	0/2:28,0,31,0,0:59:99:1069,1154,2248,0,1094,1002,1154,2248,1094,2248,1154,2248,1094,2248,2248	0	1	2	0
chr12	124402513	124402521	GCTGCTGCT	-	exonic	NCOR2	.	nonframeshift deletion	NCOR2:NM_001077261:exon16:c.1520_1528del:p.Q507_Q509del	.	.	0	15	9	3	199	214	0.333333	.	.	3196719	NCOR2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0221645	0.0099	0.0012	0.0160	0.0761	0	0.0011	0.0117	0.0168	0.0047283	731	154602	rs559681337	0.0048	0.0047	0.0044	0.0052	0.0945	0.0047	0.0047	0.0918	0.0908	0.0009	0.0120	0.0002	0.0945	0.0004	0.0020	0.0006	0.0064	0.0186	0.0046	0.0047	0.0039	0.0054	0.0687	0.0044	0.0042	0.0627	0.0604	0.0012	0	0.0060	0	0.0687	0.0008	0	0.0010	0.0048	0.0268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	0/2:28,0,31,0,0:59:99:1069,1154,2248,0,1094,1002,1154,2248,1094,2248,1154,2248,1094,2248,2248	0	1	2	0
chr12	128267422	128267422	C	G	exonic	TMEM132C	.	nonsynonymous SNV	TMEM132C:NM_001136103:exon1:c.C20G:p.A7G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	.	.	.	.	.	.	1.000	N	0	N	3.61	T	-0.917	T	0.010	T	0.259	2.257	13.50	3.0	1.502	1.343	9.325	0.044	0.0625349253778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.849e-06	4.789e-06	1.772e-06	1.933e-06	0.0004	3.1e-07	1.2e-07	.	.	0	0	0	4.062e-05	0	0.0004	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.207	0.26969	T	.	.	.	.	.	.	.	.	.	.	0.994738	0.23454	N	0	0.06538	N	3.61	0.04446	T	-0.4	0.13805	N	0.267	0.30233	-0.9169	0.45971	T	0.010	0.03537	T	7	0.17197767	0.31946	T	0.062535	0.68682	D	0.044	0.11924	0.18	0.08751	0.043077524339	0.03247	0.220772129233006	0.21992	0.0923751773083	0.10425	0.842741549015	0.88512	D	0.001164	0.00668	T	-0.221468	0.17794	T	-0.5559	0.16763	T	0.607445186159178	0.36698	D	0.385761	0.09460	T	0.14942037	0.34066	0.19410543	0.43016	0.14942037	0.34066	0.19410543	0.43015	-3.589	0.17698	T	.	.	0.129	0.27672	B	.	.	2.629220	0.34189	19.56	0.97002998031765997	0.31953	0.68677	0.33893	D	AEFDBI	0.063015	0.12150	N	-0.128770615228064	0.36143	2.085215	-0.0660268178758346	0.36804	2.146613	0.781918928904265	0.23858	0.569682	0.32691	0	0.657636	0.61667	0	0.606814	0.37721	0	0.562822	0.20929	0	.	.	3.0	3.0	0.33773	1.009000	0.29487	1.692000	0.28077	-1.146000	0.01433	1.000000	0.71638	0.966000	0.29516	0.379000	0.26312	0.0:1.0:0.0:0.0	9.325	0.37148	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	102.04	11	chr12	128267422	.	C	G	102.04	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.803e+00;DP=277;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0283;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=-9.920e-01;SOR=0.582	GT:AD:DP:GQ:PL	0/1:3,5:8:98:116,0,98	20	0	1	0
chr12	132053434	132053434	C	T	exonic	EP400	.	nonsynonymous SNV	EP400:NM_015409:exon43:c.C7565T:p.P2522L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.938	P	0.241	B	0.006	N	1.000	D	0.55	N	-2.58	D	-0.110	T	0.418	T	0.439	0.620	7.337	3.05	2.218	0.734	12.462	0.355	0.393944235084	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1253741317	7.279e-06	8.215e-06	8.626e-06	5.897e-06	3.177e-05	3.68e-06	2.68e-06	3.21e-06	2.32e-06	3.177e-05	0	0	0	0	0	7.464e-06	0	1.265e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.78490	D	0.038	0.51421	D	0.938	0.52538	P	0.241	0.38645	B	0.005886	0.32428	N	0.250921	0.964191	0.38392	D	.	.	.	-2.59	0.90332	D	-1.86	0.43524	N	0.41	0.45047	-0.1100	0.79867	T	0.418	0.76449	T	10	0.29137158	0.46716	T	0.393944	0.93250	D	0.355	0.67600	.	.	0.358880540497	0.35496	0.11336133792540412	0.11264	0.457208605773	0.45367	0.819734692574	0.84988	D	.	.	.	0.0689469	0.60721	T	-0.138739	0.60227	T	0.487544447183609	0.32174	T	0.579842	0.20971	T	.	.	.	.	.	.	.	.	-5.508	0.41942	T	.	.	0.113	0.22318	B	.;.	.;.	2.955383	0.39341	20.9	0.81844219221935399	0.13889	0.15176	0.18782	N	AEFBI	0.061842	0.11852	N	-0.351424142894539	0.27219	1.491682	-0.41155115533587	0.24658	1.351526	0.998370524726885	0.36850	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	4.03	3.05	0.34272	0.942000	0.28615	5.523000	0.48827	0.527000	0.24520	0.130000	0.23345	1.000000	0.68203	0.020000	0.11549	0.1679:0.8321:0.0:0.0	12.462	0.55077	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	304.98	18	chr12	132053434	.	C	T	304.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.910e-01;DP=515;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.25;ReadPosRankSum=1.78;SOR=0.467	GT:AD:DP:GQ:PL	0/1:8,12:20:99:319,0,220	20	0	1	0
chr12	132148891	132149110	CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	-	exonic	NOC4L	.	frameshift deletion	NOC4L:NM_024078:exon9:c.897_901del:p.D299Efs*25,	.	.	422	945	57	36	62	191	0.063893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0042	0.0039	0.0041	0.0054	0.0037	0.0036	0.0045	0.0041	0.0042	0.0068	0.0054	0.0069	0.0014	0.0029	0.0072	0.0037	0.0095	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	21208.18	31	chr12	132148890	.	ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,A,ACCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	21208.18	.	AC=13,7,1,1;AF=0.310,0.167,0.024,0.024;AN=42;BaseQRankSum=0.920;DP=1350;ExcessHet=3.4384;FS=1.805;InbreedingCoeff=-0.1455;MLEAC=13,7,1,1;MLEAF=0.310,0.167,0.024,0.024;MQ=59.50;MQRankSum=-2.060e-01;QD=21.38;ReadPosRankSum=-1.910e-01;SOR=0.840	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,32,0,0,0:76:99:0|1:132148890_ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC_A:781,0,1023,912,1119,2031,912,1119,2031,2031,912,1119,2031,2031,2031:132148890	4	2	6	0
chr12	133057131	133057131	A	G	exonic	ZNF84	.	nonsynonymous SNV	ZNF84:NM_001127372:exon5:c.A416G:p.H139R	.	.	437	1040	43	2	0	47	0.0220969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	N	0.895	L	6.67	T	-0.909	T	0.011	T	0.213	-0.150	3.266	1.25	0.363	1.238	4.153	0.034	0.00447556693994	.	.	.	.	.	.	.	.	.	.	0.0009444	146	154602	rs34737533	0.0090	0.0090	0.0083	0.0096	0.0264	0.0088	0.0088	0.0255	0.0251	0.0013	0.0020	0.0211	5.043e-05	0.0117	0.0153	0.0080	0.0088	0.0264	0.0062	0.0062	0.0059	0.0065	0.0253	0.0059	0.0057	0.0216	0.0203	0.0013	0	0.0018	0.0248	0	0.0106	0.0136	0.0077	0.0047	0.0253	0.114	0.28646	T	0.242	0.24264	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	0.695	0.17993	N	3.28	0.06523	T	-1.93	0.48020	N	0.106	0.09914	-0.9089	0.46989	T	0.011	0.04181	T	9	0.00363034	0.00066	T	0.004476	0.10969	T	0.034	0.08419	0.324	0.30549	0.0884992946249	0.08302	0.024537132809481346	0.02404	.	.	0.391508877277	0.23882	T	0.023923	0.22444	T	-0.28398	0.10251	T	-0.645694	0.09259	T	0.0269218725694647	0.01533	T	0.00476952	0.20971	T	0.10477009	0.24768	0.11534372	0.27843	0.10477009	0.24768	0.11534372	0.27842	-5.897	0.45410	T	.	.	0.119	0.24498	B	.;.;.;.;.	.;.;.;.;.	1.430539	0.18485	13.76	0.81679202589218514	0.13806	0.05815	0.11754	N	AEFGBI	0.065066	0.12669	N	-0.815567604091794	0.12913	0.63255	-0.763042789295934	0.15402	0.8098858	0.00987751702512974	0.11927	0.562547	0.31514	0	0.614415	0.52539	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	2.4	1.25	0.20475	0.055000	0.14112	0.928000	0.22757	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.8275:0.0:0.1725:0.0	4.153	0.09711	884	0.28482	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3839.11	72	chr12	133057131	.	A	G	3839.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.190e-01;DP=1521;ExcessHet=0.1072;FS=1.683;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=0.254;SOR=0.675	GT:AD:DP:GQ:PL	0/1:108,78:186:99:1682,0,2898	19	0	2	0
chr13	21155813	21155813	-	GGAG	splicing	SKA3	NM_145061:exon8:c.1120-2->CTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.943e-05	4.936e-05	2.111e-05	1.784e-05	.	1.242e-05	1.001e-05	.	.	0	0	0	0	0.0004	0	0	0	0	0.0005	0.0005	0.0003	0.0006	0.0022	0.0004	0.0003	0.0012	0.0009	0.0002	0	0.0007	0.0003	0.0006	0.0010	0	0.0004	0.0015	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	23464.59	54	chr13	21155813	.	T	TA,TAA,TGGAG	23464.59	.	AC=16,16,1;AF=0.381,0.381,0.024;AN=42;BaseQRankSum=-6.120e-01;DP=1495;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0104;MLEAC=16,16,1;MLEAF=0.381,0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=23.19;ReadPosRankSum=0.381;SOR=0.664	GT:AD:DP:GQ:PL	2/2:0,7,57,0:66:26:2221,1590,1411,190,26,0,1755,1430,189,1594	1	1	4	0
chr13	25097017	25097020	GACG	-	exonic	PABPC3	.	frameshift deletion	PABPC3:NM_030979:exon1:c.819_822del:p.T274Nfs*9,	.	.	426	825	261	1	9	272	0.13748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0002	0.0002	0.0040	0.0002	0.0002	0.0035	0.0033	0	0.0021	7.771e-05	0.0040	0	0.0002	4.518e-06	8.357e-05	0.0005	0.0038	0.0053	0.0031	0.0045	0.0558	0.0035	0.0034	0.0505	0.0484	0.0002	0	0.0081	0.0058	0.0558	0.0010	0	0.0010	0.0052	0.0111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	20220.35	244	chr13	25097016	.	AGACGGAACT	A,AGAACT	20220.35	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.45;DP=4626;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=16,1;MLEAF=0.381,0.024;MQ=59.33;MQRankSum=-1.066e+01;QD=4.53;ReadPosRankSum=-8.050e-01;SOR=1.221	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:256,30,0:286:99:0|1:25097005_A_G:489,0,10659,1260,10749,12009:25097005	4	0	16	0
chr13	25097021	25097021	G	0	exonic	PABPC3	.	.	.	.	.	424	831	13	0	254	267	0.00776119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	597.61	244	chr13	25097021	.	G	T,*	597.61	.	AC=1,16;AF=0.024,0.381;AN=42;BaseQRankSum=1.31;DP=4600;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=1,16;MLEAF=0.024,0.381;MQ=59.15;MQRankSum=-1.027e+01;QD=0.13;ReadPosRankSum=-6.340e-01;SOR=1.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:256,0,30:286:99:0|1:25097005_A_G:489,1260,12009,0,10749,10659:25097005	4	0	1	0
chr13	25097025	25097030	TTAAGC	0	exonic	PABPC3	.	.	.	.	.	431	824	13	0	254	267	0.00782661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	616.58	244	chr13	25097025	.	TTAAGC	T,*	616.58	.	AC=1,16;AF=0.024,0.381;AN=42;BaseQRankSum=1.65;DP=4638;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=1,16;MLEAF=0.024,0.381;MQ=59.18;MQRankSum=-1.037e+01;QD=0.14;ReadPosRankSum=-4.370e-01;SOR=1.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:256,0,30:286:99:0|1:25097005_A_G:489,1260,12009,0,10749,10659:25097005	4	0	1	0
chr13	25097030	25097030	C	0	exonic	PABPC3	.	.	.	.	.	432	843	240	1	6	248	0.125519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	19605.59	231	chr13	25097030	.	C	T,*	19605.59	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.79;DP=4585;ExcessHet=25.1139;FS=4.555;InbreedingCoeff=-0.6800;MLEAC=16,1;MLEAF=0.381,0.024;MQ=59.30;MQRankSum=-1.040e+01;QD=4.43;ReadPosRankSum=-8.070e-01;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:248,31,0:279:99:0|1:25097005_A_G:555,0,10285,1302,10379,11680:25097005	4	0	16	0
chr13	28713528	28713528	C	T	exonic	SLC46A3	.	nonsynonymous SNV	SLC46A3:NM_001135919:exon3:c.G212A:p.R71H	.	.	464	1057	1	0	0	1	0.000472813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.948	P	0.372	B	0.003	N	0.984	N	-0.345	N	0.37	T	-1.066	T	0.073	T	0.255	2.459	14.18	4.74	1.067	4.198	13.212	0.177	0.0264341656487	.	0.000399361	8.435e-05	0	8.711e-05	0.0001	0	1.523e-05	0	0.0005	7.76e-05	12	154602	rs139675539	5.996e-05	5.951e-05	3.965e-05	8.06e-05	0.0007	4.919e-05	4.595e-05	0.0005	0.0004	0	2.276e-05	0	0.0007	1.877e-05	0.0002	1.901e-05	6.676e-05	0.0004	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	6.82e-05	2.855e-05	0	0	0	0	0.0004	0	0	0	0	0	0.12	0.27904	T	0.004	0.74150	D	0.948	0.53620	P	0.372	0.43610	B	0.002872	0.35804	N	0.220156	0.984201	0.24820	N	-0.75	0.01730	N	0.37	0.57729	T	1.43	0.00805	N	0.095	0.07673	-1.0655	0.10432	T	0.073	0.29610	T	10	0.048002362	0.04192	T	0.026434	0.49346	D	0.177	0.44549	.	.	0.249502417897	0.24576	0.23005965915092264	0.22920	0.21552537	0.24085	0.293411523104	0.09421	T	0.124986	0.45038	T	-0.344857	0.05059	T	-0.420761	0.30989	T	0.083377878402414	0.10414	T	0.653935	0.26417	T	0.028858654	0.02288	0.047489464	0.06851	0.028858654	0.02288	0.047489464	0.06851	-3.38	0.14788	T	.	.	0.070	0.04002	B	.;.	.;.	2.263846	0.28933	17.96	0.99645496949611068	0.76943	0.92082	0.54905	D	AEFBI	0.734875	0.68087	D	-0.217748533209563	0.32405	1.827198	-0.103561019253586	0.35246	2.037	0.999042076701588	0.38290	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.91	4.74	0.59717	4.365000	0.59259	6.848000	0.56731	-0.776000	0.03386	1.000000	0.71638	1.000000	0.68203	0.432000	0.27494	0.8613:0.1387:0.0:0.0	13.212	0.59253	690	0.58899	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	906.98	40	chr13	28713528	.	C	T	906.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.13;DP=827;ExcessHet=0.0000;FS=3.801;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.89;ReadPosRankSum=0.181;SOR=1.098	GT:AD:DP:GQ:PL	0/1:77,38:115:99:921,0,1863	20	0	1	0
chr13	30713841	30713841	-	GT	exonic	ALOX5AP	.	frameshift insertion	ALOX5AP:NM_001204406:exon1:c.116_117insGT:p.A40Wfs*25,	.	.	585	586	0	0	351	351	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0171	0.0263	0.0167	0.01	.	0.0067	0.0147	0.0200	0.225603	5872	26028	rs369636483	0.0003	0.0037	0.0003	0.0003	0.0035	0.0003	0.0003	0.0030	0.0028	0.0035	0.0014	0.0004	0.0007	9.077e-05	0.0007	0.0001	0.0004	0.0012	7.233e-05	0.0001	7.041e-05	7.436e-05	0.0001	3.094e-05	2.103e-05	5.452e-05	3.56e-05	0.0001	0	0	0	0	0	0	3.702e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8628.76	35	chr13	30713841	.	G	GGT,GGTGT	8628.76	.	AC=1,7;AF=0.024,0.167;AN=42;BaseQRankSum=0.564;DP=1049;ExcessHet=0.5418;FS=1.813;InbreedingCoeff=0.0735;MLEAC=1,7;MLEAF=0.024,0.167;MQ=60.00;MQRankSum=0.00;QD=18.68;ReadPosRankSum=0.256;SOR=0.848	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:46,7,31:84:99:.:.:1232,846,2646,0,1646,1799	14	0	0	0
chr13	32340455	32340455	C	T	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon11:c.C6100T:p.R2034C,	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	YES	.	.	.	.	.	.	.	.	.	49997	Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|Hereditary_breast_ovarian_cancer_syndrome|not_specified|Breast-ovarian_cancer,_familial,_susceptibility_to,_2|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:CN221562|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:CN169374|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145|MedGen:C3661900	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.16	T	0.876	P	0.118	B	0.959	N	1.000	N	0	N	5.73	T	-0.915	T	0.001	T	0.62	0.809	8.253	1.77	0.757	-0.259	3.261	0.181	0.181494877087	0.0040	0.00139776	0.0032	0.0020	0.0038	0	0.0002	0.0049	0.0011	0	0.0034928	540	154602	rs1799954	0.0046	0.0046	0.0048	0.0045	0.0056	0.0045	0.0045	0.0055	0.0054	0.0017	0.0041	0.0013	5.044e-05	0.0003	0.0016	0.0056	0.0043	4.638e-05	0.0034	0.0034	0.0038	0.0030	0.0053	0.0031	0.0030	0.0049	0.0047	0.0014	0.0132	0.0043	0.0012	0.0002	0	0.0034	0.0053	0.0038	0	0.016	0.51853	D	0.163	0.31125	T	.	.	.	.	.	.	0.958965	0.08237	N	0.981833	1	0.08975	N	.	.	.	5.73	0.00718	T	-2.92	0.61129	D	0.205	0.22742	-0.9150	0.46220	T	0.001	0.00348	T	10	0.006237477	0.00141	T	0.181495	0.85559	D	0.181	0.45247	.	.	0.83472859845	0.83315	0.21720949376217583	0.21636	0.0217662487464	0.02172	0.215782105923	0.01081	T	.	.	.	-0.471652	0.00830	T	-0.445707	0.28172	T	0.0217174328020198	0.00877	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.06942	B	.;.	.;.	1.622599	0.20726	14.88	0.99669379636117372	0.78458	0.12584	0.17358	N	AEFGBI	0.144224	0.26713	N	-0.659152104289088	0.17195	0.8826905	-0.713915510446324	0.16614	0.8797485	0.950777945610966	0.27916	0.660377	0.49826	0	0.633656	0.55848	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	5.72	1.77	0.23848	-0.243000	0.08933	0.066000	0.14196	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.214:0.5303:0.1049:0.1509	3.261	0.06444	748	0.52143	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.02381	2506.98	110	chr13	32340455	.	C	T	2506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=2255;ExcessHet=0.0000;FS=3.061;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-9.220e-01;SOR=0.702	GT:AD:DP:GQ:PL	0/1:110,103:213:99:2521,0,2556	20	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.0	B	0.384	N	1.000	N	-1.1	N	1.03	T	-1.049	T	0.025	T	0.042	-1.565	0.015	-6.75	-1.034	0.234	0.459	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7061.0	123	chr13	42303097	.	G	C	7061.0	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-4.570e+00;DP=3154;ExcessHet=43.6797;FS=339.584;InbreedingCoeff=-0.9521;MLEAC=21;MLEAF=0.525;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=0.878;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,46:147:99:0|1:42303097_G_C:409,0,2306:42303097	0	0	20	1
chr13	43023655	43023655	T	C	exonic	DNAJC15	.	nonsynonymous SNV	DNAJC15:NM_013238:exon1:c.T29C:p.V10A,	.	.	.	.	.	.	.	.	.	.	.	2368519	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.547	N	1.000	N	-1.1	N	1.07	T	-0.988	T	0.029	T	0.049	-0.842	0.568	2.57	0.396	1.056	5.884	0.053	0.00529327186012	7.7e-05	0.000199681	6.408e-05	0.0001	0	0	0	5.779e-05	0.0015	7.405e-05	4.53e-05	7	154602	rs373664935	3.767e-05	3.762e-05	3.952e-05	3.58e-05	0.0005	2.963e-05	2.659e-05	0.0001	7.546e-05	5.984e-05	6.723e-05	0	0	0	0.0005	3.959e-05	3.315e-05	1.164e-05	7.877e-05	7.874e-05	7.707e-05	8.055e-05	0.0002	4.492e-05	3.509e-05	7.869e-05	5.573e-05	0.0002	0	0	0	0	0	0	5.879e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.547414	0.11472	N	0.773484	1	0.08975	N	-1.5	0.00507	N	1.07	0.39586	T	0.64	0.02368	N	0.044	0.01658	-0.9884	0.33002	T	0.029	0.12497	T	10	0.022494525	0.00563	T	0.005293	0.13525	T	0.053	0.14996	.	.	0.0611884634855	0.05136	0.3735473521013621	0.37268	0.0383716600576	0.04084	0.494765818119	0.38099	T	0.002124	0.01528	T	-0.454866	0.01057	T	-0.707769	0.05411	T	0.0234838462076367	0.01081	T	0.292871	0.05381	T	0.025852839	0.01572	0.044325184	0.05718	0.025852839	0.01571	0.044325184	0.05718	-2.506	0.05822	T	.	.	0.048	0.00086	B	.	.	0.893941	0.12673	9.199	0.38891730489664789	0.02651	0.00043	0.00351	N	ALL	0.088138	0.17868	N	-1.45909538905047	0.02146	0.09445091	-1.36158738781984	0.03671	0.1717287	0.999999999999985	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.53	2.57	0.29928	1.080000	0.30390	0.082000	0.14403	-0.219000	0.08017	0.006000	0.17386	0.000000	0.08366	0.002000	0.04165	0.0:0.721:0.0:0.279	5.884	0.18115	775	0.48401	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1085.98	33	chr13	43023655	.	T	C	1085.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.945;DP=797;ExcessHet=0.0000;FS=1.688;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=-1.459e+00;SOR=0.972	GT:AD:DP:GQ:PL	0/1:48,48:96:99:1100,0,1038	20	0	1	0
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P,	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.42	M	-3.77	D	1.097	D	0.943	D	0.995	4.463	23.8	5.48	2.086	7.698	15.564	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.2619	1269.87	115	chr13	48459808	.	T	C	1269.87	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-3.482e+00;DP=2175;ExcessHet=7.7275;FS=135.304;InbreedingCoeff=-0.3657;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=0.91;ReadPosRankSum=0.896;SOR=12.258	GT:AD:DP:GQ:PL	0/1:101,30:131:20:20,0,2093	10	0	11	0
chr13	59991176	59991176	C	T	exonic	DIAPH3	.	nonsynonymous SNV	DIAPH3:NM_001258370:exon6:c.G554A:p.R185Q	Auditory neuropathy, autosomal dominant, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1493298	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.000	D	0.997	D	2.855	M	-1.82	D	0.784	D	0.827	D	0.789	5.156	32	5.63	2.635	6.993	19.670	0.723	0.106866005819	.	.	1.785e-05	0	0	0	0	1.632e-05	0	6.329e-05	1.29e-05	2	154602	rs145827856	1.034e-05	1.3e-05	1.374e-06	1.939e-05	4.654e-05	6.21e-06	4.93e-06	1.586e-05	9.32e-06	0	0	0	0	0	0	8.16e-06	3.339e-05	4.654e-05	6.583e-06	6.569e-06	1.287e-05	0	6.571e-05	0	0	.	.	0	0	6.571e-05	0	0	0	0	0	0	0	0.003	0.72154	D	0.031	0.54541	D	0.998	0.90584	D	0.949	0.92359	D	0.000000	0.84330	D	0.000000	0.997034	0.43584	D	2.97	0.85306	M	-2.26	0.87352	D	-3.71	0.70674	D	0.864	0.87157	0.784	0.94213	D	0.827	0.94175	D	10	0.8870833	0.88039	D	0.106866	0.78268	D	0.723	0.90235	0.732	0.86547	0.976346015713	0.97609	0.5915366031479539	0.59083	0.623859276739	0.56610	0.603440284729	0.53390	T	0.486685	0.81307	T	0.223744	0.76131	D	0.184247	0.82239	D	0.992608189582825	0.83127	D	0.987835	0.95955	D	0.7632435	0.81645	0.71124536	0.82965	0.7632435	0.81647	0.71124536	0.82966	-9.77	0.72736	D	.	.	0.378	0.58292	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.400632	0.90437	31	0.99945398682267084	0.99886	0.98005	0.78807	D	AEFBI	0.871700	0.79322	D	0.901928136342395	0.91853	11.09971	0.86224152910004	0.93711	12.22662	0.999999999999762	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.63	5.63	0.86108	7.073000	0.76472	5.981000	0.52169	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.670	0.95905	914	0.21048	Formin, FH3 domain|Rho GTPase-binding/formin homology 3 (GBD/FH3) domain|Formin, FH3 domain;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1327.98	33	chr13	59991176	.	C	T	1327.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.060e-01;DP=794;ExcessHet=0.0000;FS=0.750;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=-3.240e-01;SOR=0.599	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1342,0,1122	20	0	1	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.995	D	0.000	D	0.987	D	3.165	M	-0.39	T	0.346	D	0.580	D	0.608	3.858	19.60	5.08	2.520	4.058	18.834	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	1218.29	151	chr13	69882456	.	G	A	1218.29	.	AC=15;AF=0.375;AN=40;BaseQRankSum=-2.253e+00;DP=2755;ExcessHet=17.4423;FS=173.681;InbreedingCoeff=-0.5810;MLEAC=15;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=0.201;SOR=13.428	GT:AD:DP:GQ:PL	0/1:98,41:149:91:91,0,1211	5	0	15	1
chr13	77067802	77067802	T	C	exonic	MYCBP2	.	nonsynonymous SNV	MYCBP2:NM_015057:exon71:c.A12234G:p.I4078M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.968	D	0.655	P	0.000	D	1.000	D	0.205	N	1.46	T	-1.078	T	0.082	T	0.634	2.815	15.37	-1.92	-0.153	0.088	8.758	0.022	0.0115253655637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.16466	T	0.251	0.23638	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999895	0.50595	D	.	.	.	1.46	0.32238	T	-0.96	0.25551	N	0.749	0.74826	-1.0782	0.07701	T	0.082	0.32178	T	10	0.3570794	0.52432	T	0.011525	0.29227	T	0.201	0.48592	0.247	0.18293	0.330666884367	0.32679	.	.	1.88852735366	0.92696	0.749631047249	0.74393	T	.	.	.	-0.0773664	0.40141	T	-0.348908	0.39329	T	0.779179155826569	0.44999	D	0.936906	0.76326	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.954089	0.24822	16.54	0.97259976214475208	0.33084	0.85598	0.44747	D	AEFBI	0.163424	0.28970	N	-0.284287158079933	0.29754	1.652899	-0.234837992449406	0.30297	1.704654	0.999724602107895	0.42220	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.95	-1.92	0.07203	0.084000	0.14738	0.877000	0.22363	0.660000	0.55035	0.982000	0.35529	1.000000	0.68203	1.000000	0.97212	0.2189:0.0:0.4518:0.3293	8.758	0.33816	897	0.25382	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2332.98	35	chr13	77067802	.	T	C	2332.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=859;ExcessHet=0.0000;FS=1.297;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=1.59;SOR=0.862	GT:AD:DP:GQ:PL	0/1:78,90:168:99:2347,0,1980	20	0	1	0
chr13	99970416	99970416	-	GGC	exonic	ZIC5	.	nonframeshift insertion	ZIC5:NM_033132:exon1:c.1259_1260insGCC:p.P424_A425insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772098205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	10227.81	36	chr13	99970413	.	TGGC	T,TGGCGGC	10227.81	.	AC=11,3;AF=0.262,0.071;AN=42;BaseQRankSum=0.619;DP=1251;ExcessHet=2.0984;FS=0.000;InbreedingCoeff=-0.0714;MLEAC=11,3;MLEAF=0.262,0.071;MQ=60.00;MQRankSum=0.00;QD=21.22;ReadPosRankSum=0.351;SOR=0.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:16,0,6:22:99:.:.:182,231,844,0,613,595	9	2	7	0
chr13	102737670	102737670	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G13027C:p.V4343L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.296e-05	0.0009	1.28e-05	1.313e-05	3.19e-05	8.1e-06	6.68e-06	9.68e-06	7.91e-06	3.19e-05	0	0	0	0	0	1.589e-05	0	0	6.741e-06	1.989e-05	0	1.384e-05	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.16028	.	.	.	.	.	.	.	0.08621222	0.14631	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.08298472189106709	0.08233	.	.	0.344727694988	0.17142	T	.	.	.	-0.118802	0.33320	T	-0.408427	0.32407	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.43882	B	.	.	-0.018962	0.04151	0.996	0.36670154075650313	0.02372	0.03259	0.08291	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929394545130418	0.26967	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0516762	0.10602	2.37	-0.837	0.10221	0.258000	0.18156	-2.744000	0.03406	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4159:0.0:0.5841	5.246	0.14815	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3125	1289.7	107	chr13	102737670	.	C	G	1289.7	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-5.420e+00;DP=3587;ExcessHet=6.1002;FS=265.418;InbreedingCoeff=-0.4269;MLEAC=12;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=1.50;SOR=12.784	GT:AD:DP:GQ:PL	0/1:157,54:221:99:171,0,3419	6	0	10	5
chr13	102738219	102738219	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12478C:p.V4160L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.167e-05	0.0022	6.326e-05	3.979e-05	6.248e-05	4.177e-05	3.835e-05	5.038e-05	4.595e-05	0	2.807e-05	0	0	0	0	6.248e-05	3.499e-05	2.541e-05	1.334e-05	2.64e-05	1.303e-05	1.368e-05	1.486e-05	2.22e-06	8.3e-07	.	.	0	0	0	0	0	9.686e-05	0	1.486e-05	0	0	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.09865704	0.17852	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.022759760475440007	0.02227	.	.	0.381038725376	0.22403	T	.	.	.	-0.129836	0.31521	T	-0.424277	0.30586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.56507	A	.	.	0.179806	0.05674	2.123	0.42346026630768363	0.03115	0.07449	0.13466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.921212253802681	0.26663	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0512898	0.10407	3.08	0.322	0.15131	1.882000	0.39283	-0.398000	0.09429	0.454000	0.21428	0.029000	0.20367	0.000000	0.08366	0.017000	0.10941	0.0:0.5804:0.0:0.4196	5.169	0.14429	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2778	1299.96	159	chr13	102738219	.	C	G	1299.96	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-5.434e+00;DP=4225;ExcessHet=6.1002;FS=289.047;InbreedingCoeff=-0.4256;MLEAC=12;MLEAF=0.333;MQ=59.99;MQRankSum=0.00;QD=0.69;ReadPosRankSum=2.11;SOR=11.733	GT:AD:DP:GQ:PL	0/1:149,62:223:99:152,0,3224	8	0	10	3
chr13	113170486	113170486	C	T	exonic	PROZ	.	nonsynonymous SNV	PROZ:NM_003891:exon7:c.C647T:p.T216I	.	.	.	.	.	.	.	.	.	.	.	976776	Abnormal_bleeding|Thrombocytopenia	Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	U	1.000	D	2.135	M	-2.43	D	0.787	D	0.798	D	0.772	2.380	13.92	4.02	1.789	3.229	16.169	0.757	0.218973759741	.	0.000399361	0.0005	0	0	0	0	0	0	0.0035	0.000414	64	154602	rs200554916	0.0002	0.0002	9.573e-05	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0	0	0	0	0	0.0002	4.518e-06	9.963e-05	0.0032	9.851e-05	9.844e-05	7.71e-05	0.0001	0.0031	6.004e-05	4.877e-05	0.0019	0.0016	0	0	0	0	0	0	0	0	0	0.0031	0.006	0.61437	D	0.01	0.65728	D	1.0	0.90584	D	0.996	0.88582	D	0.000050	0.53742	U	0.121422	0.999989	0.54805	D	2.645	0.77386	M	-2.43	0.88689	D	-3.01	0.62518	D	0.83	0.82559	0.787	0.94255	D	0.798	0.93170	D	10	0.14795548	0.28026	T	0.218974	0.87685	D	0.757	0.91710	.	.	0.976688973687	0.97644	0.7957907208180832	0.79532	0.635715063463	0.57377	0.524573743343	0.42270	T	0.899487	0.98018	D	-0.0838087	0.39092	T	0.104102	0.77181	D	0.240226401371516	0.22430	T	0.767423	0.40277	T	0.6013226	0.72762	0.39095905	0.63878	0.6013226	0.72763	0.39095905	0.63878	-9.388	0.71082	D	.	.	0.803	0.78104	P	.;.	.;.	3.507352	0.49099	22.7	0.99804696095362921	0.88906	0.75687	0.37071	D	AEFDGBCI	0.816265	0.73804	D	0.376246845553326	0.60138	4.19946	0.25902350878022	0.53164	3.486761	0.999999996640088	0.74766	0.569682	0.32691	0	0.657636	0.61667	0	0.578056	0.29568	0	0.656636	0.63459	0	.	.	4.02	4.02	0.45968	3.583000	0.53673	6.346000	0.55484	0.450000	0.21304	0.999000	0.42656	1.000000	0.68203	0.309000	0.24713	0.0:1.0:0.0:0.0	16.169	0.81604	912	0.21483	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1460.98	40	chr13	113170486	.	C	T	1460.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.696e+00;DP=823;ExcessHet=0.0000;FS=2.178;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=0.237;SOR=0.527	GT:AD:DP:GQ:PL	0/1:64,68:132:99:1475,0,1478	20	0	1	0
chr13	113407617	113407617	G	T	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.C573A:p.F191L	.	.	970	551	1	0	0	1	0.000906618	.	.	2814091	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	.	.	.	.	.	.	.	.	0.0005886	91	154602	rs113429647	0.0052	0.0041	0.0052	0.0052	0.0052	0.0051	0.0050	0.0051	0.0050	0.0006	0.0017	0.0047	0	0.0212	0.0031	0.0052	0.0051	0.0023	0.0056	0.0056	0.0053	0.0060	0.0084	0.0053	0.0052	0.0078	0.0076	0.0005	0.0143	0.0008	0.0037	0	0.0183	0	0.0084	0.0066	0.0025	.	.	.	0.071	0.43531	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.438	0.47672	.	.	.	.	.	.	.	0.0074380636	0.00169	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021332	0.16629	T	.	.	.	.	.	.	.	.	.	0.467153	0.13745	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.965	0.88720	P	.	.	1.056053	0.14373	10.95	0.81813085669044394	0.13872	0.28599	0.23598	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999764303065399	0.42728	0.080785	0.02172	0	0.096583	0.02683	0	0.074216	0.02223	0	0.062806	0.01542	0	0.123863	0.25062	4.87	-3.94	0.03856	-0.594000	0.05828	-1.571000	0.05146	0.569000	0.28856	0.405000	0.26210	0.000000	0.08366	0.357000	0.25818	0.3577:0.0:0.5311:0.1112	8.568	0.32715	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1700.98	36	chr13	113407617	.	G	T	1700.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.940e-01;DP=895;ExcessHet=0.0000;FS=4.505;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=-2.112e+00;SOR=0.396	GT:AD:DP:GQ:PL	0/1:54,65:119:99:1715,0,1401	20	0	1	0
chr13	113835521	113835521	G	A	exonic	GAS6	.	nonsynonymous SNV	GAS6:NM_000820:exon7:c.C704T:p.A235V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.001	B	0.003	B	.	.	1.000	D	0.345	N	-2.98	D	-0.578	T	0.480	T	0.068	1.510	11.00	1.37	0.015	1.013	5.467	0.165	0.218725133341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.84e-07	0	1.377e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.16958	T	0.39	0.15506	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	0.65	0.16133	N	-2.98	0.92057	D	-0.8	0.22078	N	0.101	0.08366	-0.5782	0.65688	T	0.480	0.80134	T	9	0.38099682	0.54193	T	0.218725	0.87672	D	0.165	0.42395	0.514	0.61307	0.808454288391	0.80665	0.16126849460256698	0.16047	0.34022045831	0.35964	0.308840632439	0.11731	T	0.463676	0.79953	T	-0.0834377	0.39153	T	-0.357629	0.38328	T	0.127052941238181	0.15107	T	0.516748	0.16663	T	0.021249633	0.00718	0.04746947	0.06844	0.021249633	0.00718	0.04746947	0.06843	-5.132	0.38242	T	.	.	0.100	0.17016	B	.	.	3.202963	0.43564	21.8	0.99118201567006703	0.52906	0.62316	0.31744	D	AEFBCI	0.151484	0.27598	N	-0.643545764941454	0.17647	0.9099306	-0.528171763136365	0.21389	1.156872	0.999668797239827	0.41534	0.706548	0.73137	0	0.514364	0.08380	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.71	1.37	0.21200	1.120000	0.30885	1.127000	0.24293	0.502000	0.22824	0.960000	0.33603	0.361000	0.24521	0.018000	0.11154	0.2235:0.1974:0.5791:0.0	5.467	0.15945	856	0.34373	EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	546.98	35	chr13	113835521	.	G	A	546.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=765;ExcessHet=0.0000;FS=3.530;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.82;ReadPosRankSum=0.116;SOR=0.985	GT:AD:DP:GQ:PL	0/1:38,24:62:99:561,0,877	20	0	1	0
chr14	18601979	18601979	T	G	exonic	OR11H12	.	nonsynonymous SNV	OR11H12:NM_001013354:exon1:c.T863G:p.I288S,	.	.	512	1009	1	0	0	1	0.000495295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.903	P	0.761	P	0.681	N	0.985	N	2.355	M	8.65	T	-0.964	T	0.001	T	0.257	1.223	9.963	0.585	0.518	1.365	2.750	0.034	0.00271816116405	.	.	.	.	.	.	.	.	.	.	.	.	.	rs954928636	4.448e-05	4.29e-05	4.241e-05	4.651e-05	0.0015	3.498e-05	3.139e-05	0.0011	0.0010	0.0015	0	0	0	0	0	1.088e-06	0.0002	3.777e-05	0.0002	0.0003	0.0002	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0.0009	0	0.0002	0	0	0	0	0	0	0	0.002	0.72154	D	0.004	0.74150	D	0.903	0.49795	P	0.761	0.56482	P	0.680704	0.10261	N	0.768760	.	.	.	2.69	0.78713	M	8.65	0.00144	T	-4.49	0.78046	D	0.224	0.25130	-0.9639	0.38428	T	0.001	0.00318	T	9	0.076001465	0.11816	T	0.002718	0.05608	T	0.034	0.08419	.	.	0.280695755116	0.27685	0.07045609638600409	0.06982	3.09264733632	0.99373	0.372240662575	0.21153	T	0.013904	0.11938	T	-0.489754	0.00652	T	-0.516807	0.20618	T	0.178454074316469	0.19137	T	0.70313	0.31322	T	0.40450907	0.61043	0.30552417	0.56579	0.40450907	0.61044	0.30552417	0.56578	-4.878	0.35487	T	.	.	0.116	0.23500	B	.	.	2.354790	0.30192	18.36	0.976900572412855	0.35370	0.01018	0.03833	N	AEFI	0.029975	0.02927	N	-0.402955652484698	0.25365	1.37641	-0.708421449005885	0.16751	0.8876049	1.24780404202067E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.585	0.585	0.16611	2.133000	0.41716	.	.	0.228000	0.18124	0.013000	0.18845	0.067000	0.22148	0.034000	0.13613	0.0:0.3477:0.0:0.6523	2.750	0.04954	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	2002.33	38	chr14	18601979	.	T	G	2002.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-7.047e+00;DP=939;ExcessHet=0.0000;FS=65.947;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=30.08;MQRankSum=3.79;QD=14.72;ReadPosRankSum=0.614;SOR=0.004	GT:AD:DP:GQ:PL	0/1:52,84:136:99:2016,0,1136	19	0	1	1
chr14	18967726	18967726	G	A	exonic	POTEM	.	nonsynonymous SNV	POTEM:NM_001145442:exon1:c.G241A:p.G81S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.929	P	0.703	P	.	.	1.000	N	1.845	L	1.54	T	-1.026	T	0.094	T	0.211	1.105	9.509	-0.681	-0.499	-0.496	.	0.050	0.00261847330627	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs756987079	1.369e-06	2.121e-05	0	2.752e-06	0.0003	2.3e-07	9e-08	6.111e-05	2.528e-05	0	0	0	0	0	0.0003	0	0	0	6.661e-06	1.314e-05	0	1.364e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.037	0.43085	D	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.54	0.30133	T	-1.43	0.35194	N	0.231	0.25989	-1.0261	0.21723	T	0.094	0.35658	T	8	0.13627478	0.25929	T	0.002618	0.05320	T	.	.	0.263	0.20788	0.0138822411134	0.00435	0.014644173132419816	0.01421	.	.	0.437503039837	0.30236	T	0.00774	0.07126	T	-0.265497	0.12264	T	-0.619145	0.11251	T	0.208514199354323	0.20875	T	0.783222	0.41972	T	0.049680546	0.08859	0.11454196	0.27649	0.049680546	0.08858	0.11454196	0.27648	-8.384	0.63659	D	.	.	0.148	0.32685	B	.	.	1.724403	0.21953	15.42	0.97946537005706302	0.37071	0.00085	0.00571	N	AEFI	0.027162	0.02168	N	-0.779357107906552	0.13849	0.6852786	-1.09079948269574	0.07881	0.3851249	1.41018998359559E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.34	-0.681	0.10772	-0.263000	0.08695	.	.	-1.015000	0.01753	0.005000	0.17040	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	331.98	103	chr14	18967726	.	G	A	331.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.483e+00;DP=2916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.77;MQRankSum=-6.107e+00;QD=0.70;ReadPosRankSum=3.35;SOR=0.675	GT:AD:DP:GQ:PL	0/1:404,69:473:99:346,0,10008	20	0	1	0
chr14	19780792	19780792	T	C	exonic	OR4M1	.	nonsynonymous SNV	OR4M1:NM_001005500:exon1:c.T470C:p.I157T,	.	.	414	1098	10	0	0	10	0.00453309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.0	B	0.001	N	1.000	N	1.4	L	8.66	T	-1.029	T	0.000	T	0.193	0.813	8.271	2.03	0.328	0.822	6.022	0.073	.	0.0022	0.00459265	0.0015	0.0058	0.0010	0	0	0.0007	0	0.0040	0.0015136	234	154602	rs143702311	0.0008	0.0009	0.0007	0.0008	0.0141	0.0007	0.0007	0.0117	0.0107	0.0075	0.0011	0.0053	2.519e-05	0	0.0141	0.0002	0.0015	0.0031	0.0024	0.0026	0.0025	0.0023	0.0067	0.0022	0.0021	0.0060	0.0058	0.0067	0	0.0020	0.0049	0	0	0.0171	0.0002	0.0028	0.0035	0.095	0.31235	T	0.132	0.34477	T	0.0	0.02946	B	0.0	0.01387	B	0.001037	0.40562	N	0.110114	0.999991	0.08975	N	1.185	0.30054	L	8.66	0.00139	T	-3.4	0.67014	D	0.088	0.06587	-1.0288	0.20843	T	0.000	0.00075	T	10	0.004373312	0.00089	T	.	.	.	0.073	0.21317	.	.	0.561829309373	0.55845	0.13682353132674857	0.13606	0.00245247570408	0.00212	0.397081553936	0.24662	T	0.008933	0.08161	T	-0.607178	0.00132	T	-0.640521	0.09631	T	0.00929552587605808	0.00118	T	0.784022	0.42156	T	0.1767627	0.38606	0.1598097	0.37252	0.1767627	0.38606	0.1598097	0.37252	-3.953	0.23098	T	.	.	0.136	0.29724	B	.;.	.;.	2.003067	0.25453	16.77	0.93368988381923201	0.23112	0.07921	0.13908	N	AEDGI	0.090088	0.18258	N	-0.6142428135592	0.18516	0.9619244	-0.5460116509789	0.20911	1.12883	7.75768843208787E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.43	2.03	0.25714	0.184000	0.16748	0.028000	0.13690	0.638000	0.52053	0.000000	0.06391	0.000000	0.08366	0.991000	0.66497	0.0:0.2107:0.0:0.7893	6.022	0.18863	994	0.00715	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	5271.98	236	chr14	19780792	.	T	C	5271.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.04;DP=6573;ExcessHet=0.0000;FS=1.838;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.43;MQRankSum=-6.030e-01;QD=8.16;ReadPosRankSum=-6.300e-01;SOR=0.850	GT:AD:DP:GQ:PL	0/1:424,222:646:99:5286,0,11965	20	0	1	0
chr14	19920836	19920836	C	T	exonic	OR4K5	.	nonsynonymous SNV	OR4K5:NM_001005483:exon1:c.C230T:p.A77V,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.862	P	0.607	P	0.005	N	1.000	N	0.26	N	6.31	T	-0.634	T	0.002	T	0.525	2.905	15.68	4.31	2.212	0.780	14.294	0.145	0.00373484088918	0.0010	0.000798722	0.0003	0.0037	0	0	0	0	0	0	0.000304	47	154602	rs142645609	8.619e-05	9.235e-05	0.0001	7.013e-05	0.0027	7.353e-05	6.903e-05	0.0023	0.0021	0.0027	0.0002	0	0	0	0.0002	0	0.0003	5.797e-05	0.0006	0.0007	0.0007	0.0006	0.0022	0.0005	0.0005	0.0018	0.0017	0.0022	0	0.0003	0	0	0	0	1.47e-05	0	0.0002	0.045	0.40832	D	0.086	0.40909	T	0.862	0.47435	P	0.607	0.51000	P	0.004931	0.33255	N	0.134462	1	0.08975	N	-0.02	0.05091	N	6.31	0.00555	T	-2.55	0.55181	D	0.071	0.04426	-0.6336	0.63418	T	0.002	0.00556	T	10	0.0073951483	0.00168	T	0.003735	0.08651	T	0.145	0.38592	.	.	0.388812400583	0.38497	0.031349636016411	0.03083	0.00371297511254	0.00321	0.364659547806	0.20061	T	0.008138	0.07488	T	-0.508545	0.00512	T	-0.506003	0.21725	T	0.0744129480451103	0.09257	T	0.818818	0.47619	T	0.17985013	0.39077	0.22440766	0.47352	0.17985013	0.39076	0.22440766	0.47351	-1.84	0.02631	T	.	.	0.188	0.40554	B	.	.	3.315340	0.45575	22.2	0.9976136658435818	0.85091	0.02637	0.07234	N	AEFBI	0.046996	0.07866	N	0.00078590623731524	0.41890	2.513909	0.0100000769693624	0.40179	2.393713	0.990219411251025	0.32077	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.31	4.31	0.50718	-0.076000	0.11374	-0.251000	0.10506	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.0:1.0:0.0:0.0	14.294	0.65851	988	0.01987	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2761.98	44	chr14	19920836	.	C	T	2761.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.400e-01;DP=1138;ExcessHet=0.0000;FS=2.719;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.70;ReadPosRankSum=-1.348e+00;SOR=0.942	GT:AD:DP:GQ:PL	0/1:285,127:412:99:2776,0,7583	20	0	1	0
chr14	20372843	20372843	A	C	exonic	TEP1	.	nonsynonymous SNV	TEP1:NM_001319035:exon47:c.T6642G:p.I2214M	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.95	P	0.63	P	0.002	N	1.000	D	2.7	M	1.91	T	-1.065	T	0.044	T	0.163	1.419	10.68	4.08	0.823	2.986	9.137	0.171	.	0.0048	0.00459265	0.0014	0.0147	0.0004	0	0	0.0001	0	0	0.0013519	209	154602	rs34811735	0.0005	0.0005	0.0005	0.0005	0.0160	0.0005	0.0005	0.0149	0.0144	0.0160	0.0008	0	0	0	0.0033	4.676e-05	0.0013	4.638e-05	0.0045	0.0045	0.0045	0.0045	0.0149	0.0042	0.0041	0.0139	0.0135	0.0149	0	0.0032	0	0	0	0	0.0001	0.0038	0.0002	0.013	0.54683	D	0.01	0.65728	D	0.917	0.53885	P	0.426	0.51761	B	0.002365	0.36688	N	0.253292	0.999991	0.58761	D	2.25	0.63811	M	1.91	0.23283	T	-1.23	0.31170	N	0.484	0.51851	-1.0650	0.10549	T	0.044	0.18865	T	10	0.00884971	0.00200	T	.	.	.	0.171	0.43483	.	.	0.413891365518	0.41003	0.17959836116978106	0.17878	0.353559346183	0.37155	0.35633072257	0.18850	T	0.164302	0.50971	T	-0.533996	0.00364	T	-0.527501	0.19537	T	0.0291605978352433	0.01862	T	0.759724	0.38410	T	0.08757332	0.20399	0.09744952	0.23196	0.08757332	0.20398	0.09744952	0.23195	-6.969	0.53807	T	.	.	0.180	0.42592	B	.;.	.;.	2.909191	0.38583	20.8	0.98310036128819522	0.40135	0.68037	0.33652	D	AEFBI	0.162540	0.28873	N	-0.0825601580338298	0.38156	2.230562	-0.157122830920498	0.33136	1.892295	0.573021731403523	0.21508	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.91	4.08	0.46880	3.050000	0.49568	3.989000	0.40972	-0.562000	0.04833	0.996000	0.39380	1.000000	0.68203	0.100000	0.18284	0.1529:0.0:0.8471:0.0	9.137	0.36045	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	5006.11	34	chr14	20372843	.	A	C	5006.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.81;DP=1062;ExcessHet=0.1072;FS=1.202;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=1.36;SOR=0.620	GT:AD:DP:GQ:PL	0/1:95,99:194:99:2608,0,2292	19	0	2	0
chr14	23379483	23379483	A	T	exonic	CMTM5	.	nonsynonymous SNV	CMTM5:NM_001288745:exon3:c.A221T:p.Q74L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.962	D	0.946	D	0.880	N	0.754	N	0.975	L	1.46	T	-0.812	T	0.223	T	0.605	4.404	23.3	5.44	2.288	3.103	13.123	0.145	0.0294911799887	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.91255	D	0.006	0.92824	D	0.962	0.55554	D	0.946	0.68276	D	0.880037	0.08762	N	0.940554	0.913831	0.29610	N	.	.	.	1.46	0.50976	T	-1.25	0.50337	N	0.494	0.64223	-0.8116	0.54454	T	0.223	0.58639	T	10	0.26880813	0.44402	T	0.029491	0.51987	D	0.145	0.38592	0.178	0.08503	0.789619458753	0.78766	0.3565361997943544	0.35567	0.328248128449	0.34941	0.418658703566	0.27653	T	0.01733	0.14159	T	-0.0106935	0.50168	T	-0.253137	0.49507	T	0.98339569568634	0.75077	D	0.70043	0.31009	T	0.2114823	0.43474	0.29004893	0.55026	0.2114823	0.43474	0.29004893	0.55026	-2.774	0.20044	T	.	.	0.126	0.41962	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.132617	0.61850	24.4	0.99405359020348227	0.63028	0.95260	0.64034	D	AEFDBI	0.588607	0.58580	D	0.300723598046533	0.56187	3.782984	0.388699083308358	0.60869	4.279352	0.999951293893713	0.48110	0.559995	0.30671	0	0.59043	0.45803	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	5.44	5.44	0.79348	4.677000	0.61324	4.870000	0.45558	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.841000	0.39698	1.0:0.0:0.0:0.0	13.123	0.58757	371	0.84287	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	908.98	30	chr14	23379483	.	A	T	908.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.040e-01;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.67;ReadPosRankSum=1.95;SOR=0.883	GT:AD:DP:GQ:PL	0/1:27,31:58:99:923,0,751	20	0	1	0
chr14	24300437	24300437	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G277C:p.V93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.008	B	0.009	B	0.000	D	0.996	D	0.97	L	2.67	T	-1.062	T	0.026	T	0.315	2.700	14.99	4.09	2.615	3.447	14.766	0.054	0.00576105487957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0050	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0002	2.243e-05	0.0001	0	0	0.0002	0.0004	0.0003	7.042e-05	1.319e-05	5.919e-05	1.29e-05	1.35e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.474e-05	0	0.0002	0.197	0.23183	T	0.214	0.26386	T	0.008	0.14655	B	0.009	0.14300	B	0.000069	0.52346	D	0.072968	0.996321	0.43140	D	2.585	0.75554	M	2.67	0.12473	T	-0.93	0.24898	N	0.223	0.25006	-1.0617	0.11336	T	0.026	0.11220	T	10	0.2473082	0.42010	T	0.005761	0.14952	T	0.054	0.15330	0.682	0.81982	0.280181792013	0.27631	0.43155452972977676	0.43072	0.241845707043	0.26701	0.518697142601	0.41442	T	0.026513	0.19606	T	-0.1628	0.26331	T	-0.471627	0.25341	T	0.867119252681732	0.51714	D	.	.	.	0.2700367	0.50075	0.25238276	0.50866	0.2700367	0.50075	0.25238276	0.50865	-4.398	0.29530	T	.	.	0.406	0.62127	A	.;.	.;.	3.392337	0.46977	22.4	0.98957409412611974	0.49266	0.70411	0.34579	D	AEFDGBHCI	0.404589	0.47781	N	-0.158710929101413	0.34866	1.995547	0.0346132377272474	0.41334	2.481569	0.99999908900984	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	4.09	0.47038	3.594000	0.53755	8.281000	0.76903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8459:0.1541	14.766	0.69261	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3667	974.79	119	chr14	24300437	.	G	C	974.79	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-4.960e+00;DP=2462;ExcessHet=7.7275;FS=350.718;InbreedingCoeff=-0.4950;MLEAC=13;MLEAF=0.433;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=1.16;SOR=10.936	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:104,33:137:19:.:.:19,0,2779	4	0	11	6
chr14	32822266	32822266	A	C	exonic	AKAP6	.	nonsynonymous SNV	AKAP6:NM_004274:exon13:c.A4453C:p.K1485Q,	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.994	D	0.000	D	1.000	D	2.015	M	2.94	T	-1.122	T	0.080	T	0.752	2.766	15.21	5.7	2.168	5.442	14.517	0.149	0.0150141887326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.052	0.47581	T	0.999	0.77913	D	0.994	0.82059	D	0.000001	0.62929	D	0.000000	0.836081	0.81001	D	2.395	0.69210	M	2.94	0.09728	T	-0.56	0.17003	N	0.511	0.54234	-1.1216	0.02233	T	0.080	0.31795	T	10	0.48298725	0.60542	T	0.015014	0.35490	T	0.149	0.39377	0.269	0.21735	0.628088159632	0.62505	0.2722028804982955	0.27133	0.0775880094527	0.08728	0.604041695595	0.53474	T	0.079098	0.36047	T	0.0481969	0.58110	T	-0.168545	0.57575	T	0.920509338378906	0.57971	D	0.866813	0.56740	D	0.4806661	0.65940	0.32808992	0.58701	0.4806661	0.65941	0.32808992	0.58700	-3.888	0.22122	T	.	.	0.165	0.36396	B	.	.	3.760862	0.53966	23.4	0.9941387366867922	0.63405	0.97557	0.75530	D	AEFDBI	0.617639	0.60374	D	0.726186771381667	0.81348	7.50138	0.714572592753344	0.83487	8.033953	0.999978802915583	0.50053	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.7	5.7	0.88690	5.126000	0.64561	9.440000	0.80826	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.517	0.67412	886	0.28090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1679.98	33	chr14	32822266	.	A	C	1679.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.73;DP=841;ExcessHet=0.0000;FS=1.466;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=0.910;SOR=0.884	GT:AD:DP:GQ:PL	0/1:62,57:119:99:1694,0,1780	20	0	1	0
chr14	39399688	39399688	T	C	exonic	FBXO33	.	nonsynonymous SNV	FBXO33:NM_203301:exon4:c.A1496G:p.Q499R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.985	D	0.643	P	0.000	D	1.000	D	1.1	L	1.44	T	-1.111	T	0.093	T	0.584	0.435	6.363	5.97	2.288	5.764	16.461	0.135	0.0148223472366	.	.	8.383e-06	9.954e-05	0	0	0	0	0	0	1.29e-05	2	154602	rs769859132	1.573e-05	1.573e-05	2.178e-05	9.626e-06	2.068e-05	1.048e-05	8.75e-06	1.377e-05	1.15e-05	0	0	0	0	0	0	2.068e-05	0	0	1.971e-05	1.97e-05	1.284e-05	2.689e-05	7.236e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.236e-05	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.336	0.18232	T	0.985	0.61118	D	0.643	0.52216	P	0.000000	0.84330	D	0.052608	0.99959	0.81001	D	1.61	0.41143	L	1.44	0.32722	T	-1.03	0.27052	N	0.368	0.40963	-1.1109	0.02993	T	0.093	0.35471	T	9	0.27421552	0.44974	T	0.014822	0.35183	T	0.135	0.36572	0.395	0.42099	0.134007934775	0.12933	0.2756024256079767	0.27473	0.392744924576	0.40454	0.566138386726	0.48133	T	0.021883	0.16964	T	-0.171801	0.24963	T	-0.303029	0.44404	T	0.164894638504578	0.18226	T	0.819518	0.47762	T	0.33350295	0.55756	0.22621511	0.47592	0.33350295	0.55756	0.22621511	0.47591	-3.488	0.16265	T	.	.	0.194	0.41387	B	.	.	3.287065	0.45060	22.1	0.87826438783703153	0.17511	0.94706	0.62050	D	AEFBI	0.541054	0.55736	D	0.502058047284081	0.67212	5.05156	0.574422757462348	0.73110	5.917424	0.999971747371523	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.636168	0.56350	0	.	.	5.97	5.97	0.96935	5.770000	0.68526	6.221000	0.55125	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.461	0.83887	623	0.65786	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1305.98	33	chr14	39399688	.	T	C	1305.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.870e-01;DP=813;ExcessHet=0.0000;FS=0.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-1.620e+00;SOR=0.573	GT:AD:DP:GQ:PL	0/1:52,57:109:99:1320,0,1277	20	0	1	0
chr14	49586032	49586032	C	T	exonic	RPS29	.	nonsynonymous SNV	RPS29:NM_001030001:exon2:c.G80A:p.R27Q	Diamond-Blackfan anemia 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.083	B	0.016	B	0.000	D	1.000	D	.	.	.	.	-0.980	T	0.123	T	0.722	3.761	19.09	6.06	2.882	5.575	19.185	0.174	0.103728851759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.485	0.08115	T	0.495	0.15355	T	0.003	0.11197	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	-1.09	0.32590	N	0.78	0.79118	-0.9797	0.35071	T	0.123	0.42589	T	8	0.3362448	0.50768	T	0.103729	0.77792	D	0.174	0.44019	0.42	0.46200	0.227934060464	0.22382	0.8578765483497026	0.85750	1.42041158523	0.85606	0.835893034935	0.87468	D	0.426055	0.77597	T	0.188761	0.72849	D	0.0333663	0.72496	D	0.981718182563782	0.74070	D	0.80142	0.46084	T	0.6506185	0.75397	0.4888436	0.70423	0.6506185	0.75398	0.4888436	0.70423	-7.582	0.63377	D	0.09475712425302887	0.06377	0.237	0.64062	B	.;.;.;.;.;.	.;.;.;.;.;.	4.711783	0.75700	26.4	0.99759148360519512	0.84931	0.72858	0.35649	D	ALL	0.870239	0.79113	D	0.0403471399827219	0.43701	2.657809	0.25238241552367	0.52785	3.451043	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	6.06	6.06	0.98340	7.404000	0.79226	7.548000	0.60216	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	19.185	0.93625	802	0.44336	.;Ribosomal protein S14, conserved site;Ribosomal protein S14, conserved site;Ribosomal protein S14, conserved site;Ribosomal protein S14, conserved site;Ribosomal protein S14, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	64.11	40	chr14	49586032	.	C	T	64.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.501e+00;DP=1431;ExcessHet=0.1072;FS=121.785;InbreedingCoeff=-0.0498;MLEAC=2;MLEAF=0.048;MQ=59.98;MQRankSum=0.00;QD=0.19;ReadPosRankSum=2.54;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,34:205:64:0|1:49586027_C_T:64,0,5934:49586027	19	0	2	0
chr14	50443957	50443957	C	G	exonic	MAP4K5	.	nonsynonymous SNV	MAP4K5:NM_006575:exon19:c.G1419C:p.K473N	.	.	431	1024	62	5	0	72	0.0339623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.999	D	0.991	D	0.000	D	1.000	D	.	.	-0.82	T	-0.261	T	0.422	T	0.135	2.996	15.99	2.67	0.295	0.487	8.648	0.343	.	0.0066	0.00539137	0.0140	0.0015	0.0161	0	0.0099	0.0169	0.0215	0.0192	0.0083958	1298	154602	rs35768475	0.0075	0.0075	0.0070	0.0080	0.0297	0.0074	0.0073	0.0261	0.0247	0.0011	0.0074	0.0311	5.063e-05	0.0052	0.0297	0.0068	0.0092	0.0142	0.0066	0.0067	0.0067	0.0066	0.0087	0.0063	0.0062	0.0081	0.0079	0.0013	0	0.0082	0.0276	0	0.0066	0.0272	0.0087	0.0147	0.0079	0.028	0.46129	D	0.174	0.30045	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999965	0.52935	D	.	.	.	-0.82	0.74053	T	-2.33	0.51646	N	0.299	0.33796	-0.2612	0.76055	T	0.422	0.76677	T	9	0.0042360723	0.00085	T	.	.	.	0.343	0.66488	0.419	0.46036	0.557661990297	0.55426	0.43804407463647294	0.43721	0.86124622319	0.68974	0.740895748138	0.73105	T	.	.	.	-0.425966	0.01569	T	-0.372971	0.36541	T	0.018003772233958	0.00525	T	0.891611	0.62654	D	0.33619976	0.55975	0.21171997	0.45611	0.33619976	0.55975	0.21171997	0.45610	-8.058	0.61465	D	.	.	0.605	0.69086	P	.	.	3.334347	0.45915	22.2	0.99806612893956281	0.89085	0.84800	0.43890	D	AEFBI	0.157098	0.28255	N	0.0455395370400721	0.43936	2.677043	0.0421915496554164	0.41695	2.509357	0.42880509924559	0.20353	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.44	2.67	0.30756	0.509000	0.22414	-0.199000	0.10963	0.599000	0.40250	1.000000	0.71638	0.245000	0.23879	1.000000	0.97212	0.0:0.6265:0.0:0.3735	8.648	0.33178	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1873.11	33	chr14	50443957	.	C	G	1873.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.640e-01;DP=846;ExcessHet=0.1072;FS=1.143;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=-8.850e-01;SOR=0.770	GT:AD:DP:GQ:PL	0/1:58,38:96:99:784,0,1475	19	0	2	0
chr14	54537774	54537774	G	T	exonic	CGRRF1	.	nonsynonymous SNV	CGRRF1:NM_006568:exon5:c.G623T:p.C208F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.995	D	0.000	D	1.000	D	2.045	M	1.64	T	-0.814	T	0.206	T	0.759	4.347	22.9	5.97	2.833	5.297	20.432	0.268	0.0327354753929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.008	0.92824	D	0.998	0.73220	D	0.915	0.65091	D	0.000004	0.62929	D	0.142200	0.999815	0.49394	D	2.005	0.54552	M	1.64	0.27822	T	-3.48	0.67941	D	0.783	0.77978	-0.8136	0.54331	T	0.206	0.56444	T	10	0.5141686	0.62270	D	0.032735	0.54482	D	0.268	0.58254	0.44	0.49484	0.602774461166	0.59959	0.7089178162014733	0.70833	0.485656705025	0.47436	0.58869689703	0.51310	T	0.141143	0.47604	T	0.0703483	0.60892	D	-0.136726	0.60400	T	0.987850725650787	0.78274	D	0.865513	0.57909	D	0.5900225	0.72152	0.57162964	0.75192	0.5900225	0.72153	0.57162964	0.75193	-6.085	0.46985	T	.	.	0.898	0.82613	P	.;.	.;.	4.945640	0.81653	27.6	0.99178002265686482	0.54585	0.68453	0.33808	D	AEFDGBHCI	0.733541	0.67995	D	0.781628301457377	0.84945	8.431328	0.785077200387137	0.88734	9.695858	0.999999999941834	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.97	5.97	0.96935	5.392000	0.66020	11.869000	0.98523	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.432	0.99087	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	859.98	33	chr14	54537774	.	G	T	859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.56;ReadPosRankSum=-9.400e-01;SOR=0.681	GT:AD:DP:GQ:PL	0/1:91,40:131:99:874,0,2221	20	0	1	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.001	B	0.000	D	1.000	D	0.805	L	-3.44	D	0.114	D	0.666	D	0.186	0.389	6.113	5.8	2.219	4.529	9.930	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	2608.12	67	chr14	58213644	.	T	C	2608.12	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.303e+00;DP=1500;ExcessHet=54.0936;FS=246.126;InbreedingCoeff=-0.9696;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=1.77;ReadPosRankSum=0.737;SOR=12.205	GT:AD:DP:GQ:PL	0/1:49,30:79:99:146,0,741	0	0	21	0
chr14	59511789	59511789	A	C	exonic	CCDC175	.	nonsynonymous SNV	CCDC175:NM_001164399:exon18:c.T2113G:p.L705V,	.	.	439	1074	9	0	0	9	0.00417246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	.	.	.	.	0.031	N	1.000	N	1.04	L	.	.	-1.051	T	0.042	T	0.247	2.217	13.37	-2.42	-0.457	0.202	4.295	0.038	.	0.0066	0.00199681	0.0058	0	0	0	0.0132	0.0073	0.0182	0.0043	0.001727	267	154602	rs151312451	0.0069	0.0066	0.0070	0.0068	0.0114	0.0068	0.0067	0.0092	0.0084	0.0013	0.0026	0.0087	0	0.0126	0.0114	0.0073	0.0084	0.0035	0.0047	0.0047	0.0050	0.0044	0.0064	0.0044	0.0043	0.0059	0.0057	0.0012	0.0022	0.0024	0.0089	0	0.0136	0.0137	0.0064	0.0047	0.0025	0.013	0.54683	D	0.222	0.33330	T	.	.	.	.	.	.	0.031419	0.25171	N	0.194510	1	0.08975	N	1.1	0.28011	L	1.64	0.27822	T	-1.16	0.29727	N	0.301	0.34012	-1.0511	0.14092	T	0.042	0.18118	T	7	0.0068801343	0.00156	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	0.13619014636764315	0.13543	.	.	0.372611999512	0.21206	T	0.012014	0.19884	T	-0.555013	0.00272	T	-0.565168	0.15894	T	0.0119213725234611	0.00186	T	0.630737	0.24588	T	0.0818266	0.18821	0.07491903	0.16438	0.0818266	0.18820	0.07491903	0.16438	-4.505	0.30954	T	.	.	0.145	0.34840	B	.;.	.;.	1.735399	0.22085	15.47	0.97638046719469562	0.35063	0.10131	0.15721	N	AEFBCI	0.079470	0.16051	N	-1.02899682721902	0.08006	0.3738834	-1.18528046154551	0.06155	0.2953856	0.229958618043329	0.18454	0.525926	0.21836	0	0.547309	0.14657	0	0.547309	0.15389	0	0.584449	0.35598	0	.	.	4.1	-2.42	0.06164	0.193000	0.16921	0.111000	0.14782	-0.662000	0.04349	0.115000	0.23085	0.000000	0.08366	0.107000	0.18608	0.4167:0.0:0.4128:0.1706	4.295	0.10342	786	0.46839	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	984.98	33	chr14	59511789	.	A	C	984.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.530e-01;DP=787;ExcessHet=0.0000;FS=1.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=0.696;SOR=0.797	GT:AD:DP:GQ:PL	0/1:34,44:78:99:999,0,694	20	0	1	0
chr14	67835107	67835107	G	A	exonic	RAD51B	.	nonsynonymous SNV	RAD51B:NM_001321812:exon3:c.G226A:p.A76T	.	.	431	1077	13	1	0	15	0.00691563	.	.	575589	not_provided|Hereditary_cancer-predisposing_syndrome	MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.12	B	0.082	B	0.794	N	1.000	N	0.66	N	1.18	T	-0.995	T	0.077	T	0.146	0.911	8.706	1.35	0.361	-0.239	1.359	0.017	0.00804482933415	0.0004	0.000199681	0.0004	9.612e-05	0.0003	0	0	0.0004	0.0022	0.0011	0.0003752	58	154602	rs190059291	0.0004	0.0004	0.0003	0.0004	0.0114	0.0003	0.0003	0.0092	0.0084	0.0004	0.0008	7.655e-05	0	0	0.0114	0.0003	0.0005	0.0011	0.0006	0.0006	0.0005	0.0006	0.0030	0.0005	0.0004	0.0023	0.0021	4.816e-05	0	0.0030	0	0	0	0.0034	0.0004	0.0014	0.0012	0.606	0.06030	T	0.63	0.07196	T	0.12	0.26678	B	0.082	0.29098	B	0.793963	0.06728	N	1.097780	1	0.08975	N	0.735	0.18861	N	1.11	0.52867	T	0.36	0.04694	N	0.133	0.12913	-0.9948	0.31352	T	0.077	0.30920	T	10	0.009465814	0.00214	T	0.008045	0.21316	T	0.017	0.02790	.	.	0.349647731962	0.34572	0.20058080439531759	0.19975	0.201809400117	0.22587	0.296105891466	0.09822	T	0.006293	0.31832	T	-0.507114	0.00521	T	-0.557559	0.16607	T	0.0192655840147561	0.00632	T	0.612539	0.23323	T	0.045278892	0.07385	0.049238764	0.07482	0.045278892	0.07385	0.049238764	0.07482	-3.804	0.20864	T	.	.	0.067	0.04119	B	.;.;.;.;.;.	.;.;.;.;.;.	0.886106	0.12595	9.121	0.45458155149075685	0.03569	0.02430	0.06856	N	AEFBI	0.033219	0.03899	N	-0.891295545525062	0.11049	0.5311323	-0.891931998718522	0.12284	0.6310246	0.122335302179627	0.16911	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.59	1.35	0.21078	-0.182000	0.09720	1.056000	0.23679	0.676000	0.76740	0.002000	0.15269	0.003000	0.18671	0.211000	0.22211	0.2475:0.1484:0.4511:0.153	1.359	0.02057	182	0.92924	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1125.98	35	chr14	67835107	.	G	A	1125.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.387e+00;DP=867;ExcessHet=0.0000;FS=0.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=-1.455e+00;SOR=0.710	GT:AD:DP:GQ:PL	0/1:58,52:110:99:1140,0,1412	20	0	1	0
chr14	69573090	69573092	GCG	-	exonic	CCDC177	.	nonframeshift deletion	CCDC177:NM_001271507:exon2:c.531_533del:p.A180del,	.	.	481	42	22	831	146	1830	0.952489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	15285.35	10	chr14	69573086	.	CGCGGCG	C,CGCG	15285.35	.	AC=40,2;AF=0.952,0.048;AN=42;DP=467;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=60.00;QD=30.04;SOR=1.246	GT:AD:DP:GQ:PL	1/1:0,13,0:13:40:564,40,0,564,40,564	0	19	0	0
chr14	69796879	69796879	T	C	exonic	SLC10A1	.	nonsynonymous SNV	SLC10A1:NM_003049:exon1:c.A277G:p.I93V,	.	.	.	.	.	.	.	.	.	.	.	3211951	SLC10A1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.01	B	0.027	B	0.000	D	0.941	D	-0.47	N	2.83	T	-0.990	T	0.010	T	0.193	-1.217	0.064	3.87	0.939	2.311	7.337	0.074	0.00367328553119	.	0.000399361	0.0003	0	0	0	0	0	0	0.0025	0.0002781	43	154602	rs200105842	0.0002	0.0002	5.853e-05	0.0003	0.0026	0.0001	0.0001	0.0023	0.0022	0	0	0	0	0	0	0	9.935e-05	0.0026	5.251e-05	5.249e-05	3.854e-05	6.711e-05	0.0014	2.555e-05	1.828e-05	0.0007	0.0005	0	0	6.536e-05	0	0	0	0	0	0	0.0014	1.0	0.00964	T	1.0	0.01155	T	0.01	0.15535	B	0.027	0.21085	B	0.000001	0.84330	D	0.057807	0.94129	0.37329	D	0.37	0.12060	N	2.83	0.10771	T	0.49	0.02993	N	0.115	0.10340	-0.9900	0.32601	T	0.010	0.03673	T	10	0.010635704	0.00236	T	0.003673	0.08464	T	0.074	0.21613	0.549	0.66436	0.307016933798	0.30308	0.3631320020029694	0.36227	0.00182622468406	0.00154	0.484697759151	0.36704	T	0.066097	0.32858	T	-0.59853	0.00149	T	-0.638071	0.09810	T	0.0341114443522106	0.02657	T	0.812519	0.46414	T	0.048370495	0.08419	0.05017965	0.07822	0.048370495	0.08419	0.05017965	0.07821	-2.265	0.04368	T	.	.	0.088	0.11749	B	.	.	1.243212	0.16394	12.51	0.23109200840338517	0.00962	0.73201	0.35810	D	AEFGBI	0.287344	0.39951	N	-0.691827811925926	0.16253	0.8264454	-0.478638764272212	0.22743	1.23681	0.999646335152391	0.41316	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.01	3.87	0.43823	1.963000	0.40076	5.048000	0.46972	0.644000	0.52426	0.993000	0.37899	1.000000	0.68203	0.088000	0.17685	0.0:0.2376:0.0:0.7624	7.337	0.25788	773	0.48803	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1761.98	40	chr14	69796879	.	T	C	1761.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.520;DP=905;ExcessHet=0.0000;FS=0.559;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.90;ReadPosRankSum=-4.530e-01;SOR=0.640	GT:AD:DP:GQ:PL	0/1:104,74:178:99:1776,0,2657	20	0	1	0
chr14	70642268	70642268	-	CGGCCGAGC	exonic	TTC9	.	nonframeshift insertion	TTC9:NM_015351:exon1:c.139_140insCGGCCGAGC:p.E52_L53insPAE,	.	.	374	1147	1	0	0	1	0.00043573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0013	0	0	0	0	0.0020	0	0.0011	0.0007684	20	26028	rs536435274	0.0020	0.0020	0.0021	0.0020	0.0024	0.0020	0.0019	0.0023	0.0023	0.0002	0.0012	8.535e-05	0	0.0002	0.0002	0.0024	0.0019	0.0009	0.0012	0.0012	0.0014	0.0010	0.0020	0.0011	0.0010	0.0017	0.0016	0.0004	0	0.0014	0	0	9.571e-05	0	0.0020	0.0014	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	859.94	33	chr14	70642268	.	G	GCGGCCGAGC	859.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.121;DP=847;ExcessHet=0.0000;FS=1.001;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=-4.480e-01;SOR=0.875	GT:AD:DP:GQ:PL	0/1:38,24:62:99:874,0,1497	20	0	1	0
chr14	74672848	74672848	G	C	exonic	AREL1	.	nonsynonymous SNV	AREL1:NM_001039479:exon11:c.C1405G:p.H469D,	.	.	423	1090	8	1	0	10	0.00456621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.833	P	0.334	B	0.000	D	1.000	D	-0.78	N	1.21	T	-0.806	T	0.110	T	0.72	0.898	8.648	4.97	2.941	6.613	14.791	0.293	0.0207938383895	.	.	0.0003	0.0001	0	0	0	4.497e-05	0.0011	0.0017	0.0002393	37	154602	rs763048750	0.0002	0.0002	0.0001	0.0002	0.0059	0.0002	0.0002	0.0043	0.0038	5.974e-05	6.708e-05	0	0	0	0.0059	5.216e-05	0.0004	0.0017	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	8.711e-05	0.0005	0.0004	4.811e-05	0	0.0003	0	0	0	0.0102	8.82e-05	0.0005	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.086706	1	0.81001	D	-0.635	0.02130	N	1.21	0.72125	T	0.06	0.06253	N	0.702	0.70615	-0.8057	0.54807	T	0.110	0.39675	T	10	0.026138276	0.00788	T	0.020794	0.43452	T	0.293	0.61272	.	.	0.514755673002	0.51116	0.7189359683528408	0.71836	0.612211333373	0.55821	0.724126815796	0.70649	T	0.018236	0.14734	T	-0.191183	0.22084	T	-0.0606275	0.66288	T	0.0776783375518589	0.09688	T	0.79532	0.45429	T	0.49567458	0.66840	0.27318543	0.53236	0.49567458	0.66841	0.27318543	0.53235	-0.048	0.00366	T	.	.	0.142	0.36134	B	.;.	.;.	3.001055	0.40103	21.1	0.96711424961893244	0.30814	0.99612	0.97981	D	AEFGBI	0.798852	0.72528	D	-0.120680268131885	0.36492	2.110114	0.128052007407467	0.45991	2.852474	0.999999999988856	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.87	4.97	0.65419	6.707000	0.74478	8.707000	0.78125	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0689:0.0:0.9311:0.0	14.791	0.69466	505	0.75648	HECT domain;HECT domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2013.98	36	chr14	74672848	.	G	C	2013.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.590e-01;DP=871;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=0.653;SOR=0.687	GT:AD:DP:GQ:PL	0/1:85,75:160:99:2028,0,2314	20	0	1	0
chr14	77027470	77027472	TGT	-	exonic	IRF2BPL	.	nonframeshift deletion	IRF2BPL:NM_024496:exon1:c.321_323del:p.Q127del,	.	.	423	1064	20	9	6	44	0.0175439	.	.	1666929	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1014	.	0.0040	0	0.01	0	0	0.0067	0	0.0032	0.0001153	3	26028	rs781248415	0.0033	0.0071	0.0030	0.0036	0.0111	0.0032	0.0032	0.0095	0.0092	0.0020	0.0096	0.0090	0.0043	0.0028	0.0111	0.0027	0.0036	0.0102	0.0022	0.0024	0.0023	0.0021	0.0027	0.0020	0.0019	0.0024	0.0022	0.0017	0	0.0020	0.0065	0.0012	0.0007	0.0144	0.0027	0.0024	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	546.95	34	chr14	77027469	.	CTGT	C	546.95	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.800e-02;DP=518;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0250;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.78;ReadPosRankSum=-2.530e-01;SOR=0.818	GT:AD:DP:GQ:PL	0/1:9,14:23:99:561,0,336	20	0	1	0
chr14	77378713	77378713	A	G	exonic	SAMD15	.	nonsynonymous SNV	SAMD15:NM_001010860:exon1:c.A1295G:p.Y432C,	.	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.994	D	0.667	P	.	.	1.000	N	1.385	L	2.0	T	-1.071	T	0.043	T	0.106	2.170	13.21	-4.39	-0.686	-0.125	0.322	0.077	.	7.7e-05	0.00299521	0.0019	0.0003	8.658e-05	0	0	0	0.0011	0.0137	0.00163	252	154602	rs192675089	0.0008	0.0008	0.0005	0.0011	0.0124	0.0008	0.0007	0.0117	0.0115	0.0002	8.967e-05	0	2.519e-05	0	0.0007	8.993e-06	0.0011	0.0124	0.0006	0.0006	0.0003	0.0009	0.0145	0.0005	0.0004	0.0118	0.0108	0.0003	0	0.0001	0	0	0	0	0	0.0005	0.0145	0.019	0.50132	D	0.146	0.32891	T	0.994	0.66517	D	0.667	0.53020	P	.	.	.	.	1	0.08975	N	1.525	0.38595	L	2.0	0.21473	T	-3.33	0.66206	D	0.141	0.14054	-1.0707	0.09260	T	0.043	0.18368	T	9	0.0038179755	0.00072	T	.	.	.	0.077	0.22490	.	.	0.104622674875	0.10061	0.12463284700741513	0.12389	0.100971721435	0.11407	0.316091239452	0.12828	T	0.034935	0.23521	T	-0.622762	0.00106	T	-0.6563	0.08518	T	0.0640731562898745	0.07793	T	0.556944	0.19352	T	0.08087367	0.18554	0.11866173	0.28643	0.08087367	0.18553	0.11866173	0.28642	-4.61	0.32297	T	.	.	0.161	0.35560	B	.	.	1.610988	0.20585	14.82	0.94941898800012947	0.25839	0.03760	0.09070	N	AEFBI	0.067227	0.13207	N	-0.775380945607062	0.13953	0.6912561	-1.01363337197613	0.09485	0.4721562	0.999963747275159	0.48965	0.553676	0.25195	0	0.588015	0.36545	0	0.577349	0.28860	0	0.567892	0.33627	0	.	.	4.95	-4.39	0.03360	0.288000	0.18695	-0.052000	0.12533	-0.083000	0.16234	0.000000	0.06391	0.000000	0.08366	0.045000	0.14751	0.2971:0.1474:0.2683:0.2873	0.322	0.00283	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1885.98	104	chr14	77378713	.	A	G	1885.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.54;DP=1808;ExcessHet=0.0000;FS=1.922;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=-9.620e-01;SOR=0.536	GT:AD:DP:GQ:PL	0/1:103,70:173:99:1900,0,2779	20	0	1	0
chr14	77907992	77907992	G	A	exonic	ADCK1	.	nonsynonymous SNV	ADCK1:NM_001366487:exon7:c.G931A:p.V311M,	.	.	417	1093	11	1	0	13	0.00591178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	.	.	.	.	.	.	.	.	0.0001552	24	154602	rs182512927	0.0012	0.0011	0.0009	0.0015	0.0079	0.0011	0.0011	0.0073	0.0071	0.0001	0.0002	0.0038	2.656e-05	9.768e-05	0.0034	0.0007	0.0012	0.0079	0.0008	0.0008	0.0008	0.0008	0.0070	0.0007	0.0006	0.0052	0.0045	0.0002	0	0.0004	0.0023	0	0	0.0034	0.0009	0	0.0070	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1032.98	35	chr14	77907992	.	G	A	1032.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.594e+00;DP=810;ExcessHet=0.0000;FS=2.641;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.13;ReadPosRankSum=-1.600e-01;SOR=0.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,27:54:99:0|1:77907984_G_A:1047,0,1052:77907984	20	0	1	0
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.457	T	0.373	T	0.265	1.329	10.36	6.02	2.865	5.815	17.697	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	1084.5	165	chr14	78297852	.	G	A	1084.5	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-4.121e+00;DP=3392;ExcessHet=20.9642;FS=253.512;InbreedingCoeff=-0.6055;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=-1.140e-01;SOR=12.494	GT:AD:DP:GQ:PL	0/1:108,45:165:64:64,0,1870	5	0	16	0
chr14	87947880	87947880	T	G	splicing	GALC	NM_000153:exon13:c.1339-2A>C;NM_001201402:exon13:c.1261-2A>C;NM_001201401:exon12:c.1270-2A>C	.	.	Krabbe disease, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.317	10.32	3.66	2.343	1.628	8.987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.048355	0.96078	35	0.96312423662121505	0.29387	0.90279	0.51329	D	AEFBI	.	.	.	0.834703617961455	0.88221	9.49745	0.637691033602847	0.77695	6.729492	0.662390159466227	0.22285	0.088506	0.02282	0	0.096993	0.02736	0	0.060301	0.00762	0	0.057018	0.00518	0	0.774629	0.45842	6.11	3.66	0.41111	2.105000	0.41449	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	0.1223:0.0:0.127:0.7507	8.987	0.35161	920	0.19381	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	935.62	37	chr14	87947880	.	T	G	935.62	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-1.210e+00;DP=599;ExcessHet=6.5132;FS=356.125;InbreedingCoeff=-0.3595;MLEAC=11;MLEAF=0.289;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=1.35;SOR=9.869	GT:AD:DP:GQ:PL	0/1:21,14:35:99:108,0,330	9	0	10	2
chr14	91937102	91937102	A	G	exonic	FBLN5	.	nonsynonymous SNV	FBLN5:NM_001384159:exon4:c.T275C:p.V92A	Cutis laxa, autosomal dominant 2;Cutis laxa, autosomal recessive, type IA, Autosomal recessive;Macular degeneration, age-related, 3, Autosomal dominant;Neuropathy, hereditary, with or without age-related macular degeneration, Autosomal dominant	.	0	1513	8	1	0	10	0.00329381	.	.	337801	not_specified|not_provided|Cutis_Laxa,_Dominant/Recessive|Inborn_genetic_diseases|Macular_degeneration	MedGen:CN169374|MedGen:C3661900|MedGen:CN239277|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000608,Human_Phenotype_Ontology:HP:0007694,MONDO:MONDO:0003004,MedGen:C0024437	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.783	P	0.363	B	0.000	D	0.998	D	1.7	L	-1.53	D	-0.087	T	0.481	T	0.547	3.581	18.24	5.58	2.134	4.910	15.750	0.356	0.0647595851347	.	0.000199681	8.238e-05	0	0.0002	0	0	0.0001	0	6.057e-05	7.12e-05	11	154602	rs145108467	0.0001	0.0001	0.0001	0.0001	0.0038	0.0001	9.966e-05	0.0026	0.0022	0	0.0001	0	0	0	0.0038	9.442e-05	0.0004	0.0002	7.885e-05	7.874e-05	6.43e-05	9.406e-05	0.0002	4.497e-05	3.512e-05	7.91e-05	5.995e-05	0	0	6.547e-05	0	0	0	0	0.0001	0	0.0002	0.023	0.78490	D	0.005	0.72224	D	0.783	0.44368	P	0.363	0.43280	B	0.000100	0.51296	D	0.132797	0.996268	0.44152	D	1.7	0.43825	L	-1.56	0.82076	D	-1.67	0.50012	N	0.527	0.58287	-0.0870	0.80395	T	0.481	0.80175	T	10	0.24574801	0.41827	T	0.06476	0.69375	D	0.356	0.67691	.	.	0.621296950098	0.61822	0.6547844994227595	0.65414	0.62569123341	0.56737	0.647772073746	0.59669	T	0.076342	0.60067	T	-0.0969688	0.36927	T	-0.0849166	0.64542	T	0.0566954367991829	0.06637	T	0.741926	0.52631	T	0.11917039	0.28064	0.22384578	0.47277	0.18191671	0.39385	0.26314378	0.52116	-5.135	0.38274	T	.	.	0.286	0.53914	B	.;.;.;.	.;.;.;.	3.896998	0.56739	23.8	0.99625611547499571	0.75716	0.93213	0.57620	D	AEFGBI	0.707660	0.66232	D	0.149946732911061	0.48810	3.088686	0.275823702376681	0.54132	3.579099	0.999989928121182	0.51787	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	5.152000	0.64727	9.192000	0.79135	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	1.0:0.0:0.0:0.0	15.750	0.77743	477	0.77662	EGF-like domain|EGF-like calcium-binding domain;EGF-like domain|EGF-like calcium-binding domain;EGF-like domain|EGF-like calcium-binding domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2557.11	33	chr14	91937102	.	A	G	2557.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.03;DP=921;ExcessHet=0.1072;FS=2.717;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.58;ReadPosRankSum=0.686;SOR=0.544	GT:AD:DP:GQ:PL	0/1:62,60:122:99:1349,0,1554	19	0	2	0
chr14	92071010	92071010	-	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.67_68insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G23Afs*74	Machado-Joseph disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0005	0.0004	0.0004	0.0066	0.0004	0.0003	0.0059	0.0057	0.0039	0.0002	0	0.0066	4.089e-05	0.0008	8.033e-05	0.0005	0.0003	0.0029	0.0030	0.0029	0.0030	0.0095	0.0027	0.0026	0.0087	0.0084	0.0095	0	0.0009	0	0.0069	0	0	0.0004	0.0010	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	36259.03	42	chr14	92071010	.	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	36259.03	.	AC=18,2,2,6,3,2;AF=0.429,0.048,0.048,0.143,0.071,0.048;AN=42;BaseQRankSum=0.860;DP=1771;ExcessHet=0.9430;FS=3.265;InbreedingCoeff=0.0101;MLEAC=18,2,2,6,3,2;MLEAF=0.429,0.048,0.048,0.143,0.071,0.048;MQ=59.43;MQRankSum=0.00;QD=25.62;ReadPosRankSum=1.57;SOR=1.013	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,0,0,0,0,0,0:54:0:.:.:253,0,1320,0,1320,1320,0,1320,1320,1320,0,1320,1320,1320,1320,0,1320,1320,1320,1320,1320,0,1320,1320,1320,1320,1320,1320	1	5	3	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.011	B	0.017	B	0.252	N	1.000	N	0.05	N	-2.05	D	-0.896	T	0.266	T	0.154	-1.272	0.044	2.69	0.689	0.019	3.621	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	13250.74	134	chr14	94497802	.	C	T	13250.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.980e-01;DP=3035;ExcessHet=54.0936;FS=263.453;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.70;ReadPosRankSum=-4.390e-01;SOR=12.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,72:151:99:.:.:1061,0,1010	0	0	21	0
chr14	100123541	100123541	C	A	exonic	EVL	.	nonsynonymous SNV	EVL:NM_001330221:exon4:c.C355A:p.P119T	.	.	426	1091	5	0	0	5	0.00228624	.	.	2378848	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.997	D	0.000	D	1.000	D	2.495	M	0.41	T	0.292	D	0.633	D	0.532	3.411	17.52	5.22	2.432	3.518	15.488	0.314	0.112617856443	0.0002	0.000399361	0.0002	0	0.0003	0	0	0.0002	0	0.0006	0.0001746	27	154602	rs141817237	0.0001	0.0001	0.0001	0.0002	0.0019	0.0001	0.0001	0.0011	0.0008	0	0.0001	0.0007	2.519e-05	0	0.0019	8.634e-05	0.0003	0.0006	0.0001	0.0001	0.0001	8.058e-05	0.0002	7.087e-05	5.744e-05	0.0001	7.895e-05	0	0	0	0.0006	0	0	0.0068	0.0002	0	0.0002	0.004	0.91255	D	0.051	0.52060	T	0.201	0.90584	B	0.118	0.86255	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.535	0.73915	M	-0.69	0.78860	T	-5.77	0.91609	D	0.477	0.55106	0.292	0.87427	D	0.633	0.87127	D	10	0.14647883	0.27771	T	0.112618	0.79083	D	0.314	0.63588	.	.	0.733819335902	0.73144	0.2953604586173116	0.29449	0.662172756864	0.58958	0.480947971344	0.36187	T	0.65838	0.89718	D	-0.128531	0.31733	T	-0.0649176	0.65987	T	0.713741898536682	0.41384	D	0.893211	0.91493	D	0.59055734	0.72181	0.43985692	0.67324	0.59055734	0.72182	0.43985692	0.67325	-9.041	0.67961	D	.	.	0.070	0.08997	B	.;.;.;.;.;.	.;.;.;.;.;.	3.943087	0.57716	23.9	0.99331312211431155	0.59777	0.96475	0.69324	D	AEFDBI	0.485392	0.52500	N	0.533543245372391	0.69087	5.307397	0.541970309419874	0.70841	5.564801	0.999999999980973	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.693117	0.63056	0	0.727631	0.95156	0	.	.	5.22	5.22	0.72285	3.746000	0.54846	4.794000	0.44921	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	15.488	0.75310	970	0.06235	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2077.11	34	chr14	100123541	.	C	A	2077.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.034e+00;DP=816;ExcessHet=0.1072;FS=3.574;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=-6.190e-01;SOR=0.467	GT:AD:DP:GQ:PL	0/1:39,54:93:99:1236,0,955	19	0	2	0
chr14	100881145	100881145	C	T	exonic	RTL1	.	nonsynonymous SNV	RTL1:NM_001134888:exon4:c.G3644A:p.R1215H,	.	.	426	1087	9	0	0	9	0.00412277	.	.	713997	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.865	P	0.124	B	0.020	N	1.000	N	0.345	N	1.97	T	-1.047	T	0.015	T	0.142	0.898	8.648	-1.5	-0.311	-0.655	0.356	0.024	.	0.0050	0.00219649	0.0083	0.0010	0.0039	0.0019	0.0084	0.0126	0.0040	0.0055	0.0040038	619	154602	rs61993318	0.0071	0.0070	0.0073	0.0069	0.0080	0.0070	0.0070	0.0079	0.0078	0.0010	0.0025	0.0040	0.0016	0.0078	0.0046	0.0080	0.0072	0.0032	0.0056	0.0056	0.0059	0.0051	0.0085	0.0052	0.0051	0.0079	0.0077	0.0012	0.0779	0.0016	0.0037	0.0017	0.0072	0.0068	0.0085	0.0043	0.0025	0.522	0.07211	T	0.553	0.09329	T	.	.	.	.	.	.	0.019578	0.01513	N	3.476170	1	0.08975	N	1.355	0.33814	L	1.97	0.22067	T	0.23	0.04613	N	0.023	0.00407	-1.0470	0.15246	T	0.015	0.06234	T	10	0.0047321916	0.00100	T	.	.	.	0.024	0.04979	.	.	0.0806252709748	0.07271	0.3417523608304077	0.34088	0.738338173427	0.63105	0.300860255957	0.10529	T	0.113543	0.43066	T	-0.646418	0.00076	T	-0.690923	0.06335	T	0.00277857098649546	0.00029	T	0.40256	0.10281	T	0.018201793	0.00341	0.02078511	0.00155	0.018201793	0.00341	0.02078511	0.00155	-4.131	0.25745	T	.	.	0.083	0.09433	B	.;.	.;.	-0.161467	0.03293	0.568	0.92677944376055932	0.22162	0.00553	0.02530	N	AEFBI	.	.	.	-0.987708182115567	0.08865	0.4173408	-1.13523925921189	0.07036	0.3407781	0.0060643537236262	0.11119	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.33	-1.5	0.08233	-1.258000	0.02973	-5.640000	0.01646	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.1952:0.3101:0.1918:0.3028	0.356	0.00331	842	0.36989	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3183.98	52	chr14	100881145	.	C	T	3183.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=1019;ExcessHet=0.0000;FS=2.232;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=-4.060e-01;SOR=0.862	GT:AD:DP:GQ:PL	0/1:106,134:240:99:3198,0,2244	20	0	1	0
chr14	102085363	102085363	C	G	exonic	HSP90AA1	.	nonsynonymous SNV	HSP90AA1:NM_005348:exon4:c.G598C:p.E200Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.982	D	0.000	U	1.000	D	3.475	M	2.72	T	-0.613	T	0.150	T	0.656	4.120	21.2	4.29	2.121	5.891	17.117	0.345	0.024373304621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.56456	D	0.091	0.47828	T	0.976	0.68779	D	0.932	0.73562	D	0.000000	0.84330	U	0.000000	1	0.81001	D	.	.	.	2.72	0.11947	T	-2.66	0.58569	D	0.761	0.75927	-0.6133	0.64267	T	0.150	0.47699	T	10	0.7367568	0.74674	D	0.024373	0.47357	T	0.345	0.66676	0.567	0.68901	0.594341913235	0.59113	0.41123214595710106	0.41039	.	.	0.742223501205	0.73300	T	0.29022	0.66299	T	0.00102647	0.51796	T	-0.236302	0.51158	T	0.972918689250946	0.69886	D	0.957004	0.83719	D	0.76636237	0.81830	0.5145693	0.71952	0.76636237	0.81832	0.5145693	0.71952	-13.704	0.92055	D	.	.	0.613	0.80085	P	.;.;.	.;.;.	4.544981	0.71481	25.7	0.99394601590948628	0.62519	0.95657	0.65605	D	AEFDBCI	0.871904	0.79352	D	0.822631910386071	0.87498	9.239389	0.715145774961174	0.83528	8.045469	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.29	4.29	0.50359	7.697000	0.83509	7.677000	0.65097	0.511000	0.23309	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	0.0:1.0:0.0:0.0	17.117	0.86570	840	0.37365	Heat shock protein Hsp90, N-terminal;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1406.98	40	chr14	102085363	.	C	G	1406.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.33;DP=1225;ExcessHet=0.0000;FS=0.684;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=1.56;SOR=0.801	GT:AD:DP:GQ:PL	0/1:72,52:124:99:1421,0,1955	20	0	1	0
chr14	104753248	104753248	T	G	exonic	SIVA1	.	nonsynonymous SNV	SIVA1:NM_006427:exon1:c.T47G:p.L16R	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.001	D	0.993	N	2.28	M	.	.	-0.319	T	0.318	T	0.746	4.562	24.7	4.27	2.077	2.339	11.892	0.383	0.791480911579	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1444579808	2.077e-06	2.052e-06	1.376e-06	2.787e-06	0.0002	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.808e-06	0	0	6.577e-06	6.568e-06	1.286e-05	0	6.54e-05	0	0	.	.	0	0	6.54e-05	0	0	0	0	0	0	0	0.001	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000616	0.42945	D	0.161524	0.992912	0.41780	D	2.505	0.72935	M	.	.	.	-3.66	0.74661	D	0.538	0.56576	-0.3192	0.74444	T	0.318	0.68735	T	9	0.9286395	0.92207	D	0.791481	0.98363	D	0.383	0.70029	0.763	0.89133	0.569067374492	0.56572	0.630177630094756	0.62951	1.18850529845	0.80209	0.90074467659	0.96523	D	0.233863	0.60076	T	0.216029	0.75400	D	0.0725337	0.75079	D	0.988424003124237	0.78756	D	0.737326	0.35372	T	0.89360636	0.90819	0.78015566	0.87039	0.89360636	0.90820	0.78015566	0.87040	-2.117	0.03657	T	.	.	0.140	0.35056	B	.;.;.;.	.;.;.;.	3.611747	0.51069	23.0	0.99631406929545552	0.76081	0.49420	0.28429	N	AEFGBHCIJ	0.688558	0.64952	D	0.513723486525809	0.67901	5.14392	0.494634056566994	0.67634	5.110342	0.999999999999646	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.48	4.27	0.50009	1.789000	0.38356	4.723000	0.44515	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.482000	0.28611	0.0:0.0:0.1457:0.8543	11.892	0.51913	964	0.07719	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1010.98	38	chr14	104753248	.	T	G	1010.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.700e-01;DP=855;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.63;ReadPosRankSum=0.430;SOR=0.714	GT:AD:DP:GQ:PL	0/1:59,46:105:99:1025,0,1468	20	0	1	0
chr14	104946204	104946204	C	0	exonic	AHNAK2	.	.	.	.	.	438	157	442	479	6	1406	0.816803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	106384.42	204	chr14	104946204	.	C	T,*	106384.42	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-9.490e-01;DP=5401;ExcessHet=6.1794;FS=4.082;InbreedingCoeff=-0.2857;MLEAC=27,1;MLEAF=0.643,0.024;MQ=52.30;MQRankSum=-1.434e+01;QD=21.17;ReadPosRankSum=-1.256e+00;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,195,0:195:99:1|1:104946204_C_T:8746,587,0,8746,587,8746:104946204	1	7	12	0
chr14	104948811	104948811	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G6340A:p.A2114T	.	.	428	1088	6	0	0	6	0.00274977	.	.	2770869	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.55	T	0.996	D	0.993	D	.	.	1.000	N	1.59	L	5.55	T	-0.924	T	0.007	T	0.043	2.409	14.02	-0.488	-0.346	-0.046	4.925	0.028	0.00178641489804	.	.	6.634e-05	0.0001	8.64e-05	0	0	7.502e-05	0	6.056e-05	3.84e-05	1	26028	rs757140039	8.144e-05	0.0001	7.081e-05	9.217e-05	0.0019	6.938e-05	6.489e-05	0.0011	0.0008	0.0002	0.0002	3.827e-05	2.522e-05	0	0.0019	5.397e-05	0.0002	0.0001	0.0001	0.0005	0.0002	0.0001	0.0009	9.846e-05	8.345e-05	0.0006	0.0004	2.463e-05	0	0.0009	0	0.0002	0	0	5.901e-05	0.0010	0	0.311	0.13971	T	0.276	0.21947	T	0.996	0.68779	D	0.993	0.81110	D	.	.	.	.	1	0.08975	N	0.925	0.23481	L	5.55	0.00874	T	-0.76	0.21215	N	0.026	0.00527	-0.9237	0.45041	T	0.007	0.02360	T	9	0.083375186	0.13863	T	0.001786	0.03037	T	0.028	0.06331	.	.	0.0297737177859	0.01360	0.0027179339878852906	0.00252	.	.	0.2029735744	0.00548	T	0.020202	0.15948	T	-0.59544	0.00155	T	-0.808372	0.01702	T	0.0172800999134779	0.00469	T	0.378562	0.09103	T	0.016556041	0.00205	0.038506757	0.03735	0.016556041	0.00205	0.038506757	0.03735	-4.394	0.29475	T	.	.	0.084	0.09627	B	.	.	0.017179	0.04404	1.144	0.99533899890496902	0.70025	0.03761	0.09070	N	AEFBI	.	.	.	-0.489376226572196	0.22428	1.197527	-0.745695451544033	0.15828	0.8343838	9.61606102438991E-5	0.04910	0.706548	0.73137	0	0.55458	0.17659	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.63	-0.488	0.11455	-1.069000	0.03555	-11.563000	0.00594	-0.978000	0.01909	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4439:0.2955:0.2607	4.925	0.13243	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4807.11	203	chr14	104948811	.	C	T	4807.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.42;DP=5134;ExcessHet=0.1072;FS=6.556;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.82;MQRankSum=-4.614e+00;QD=11.00;ReadPosRankSum=3.56;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,100:256:99:0|1:104948811_C_T:3664,0,6156:104948811	19	0	2	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	679.27	87	chr15	20534613	.	C	*,T	679.27	.	AC=7,3;AF=0.175,0.075;AN=40;BaseQRankSum=-3.180e-01;DP=2018;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3332;MLEAC=7,3;MLEAF=0.175,0.075;MQ=54.83;MQRankSum=0.894;QD=0.62;ReadPosRankSum=2.91;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,43,0:85:99:0|1:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1433,0,1590,1568,1718,3286:20534604	10	0	7	1
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	2232.49	67	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	C,*	2232.49	.	AC=9,5;AF=0.237,0.132;AN=38;BaseQRankSum=1.18;DP=1927;ExcessHet=14.4320;FS=1.229;InbreedingCoeff=-0.5556;MLEAC=10,5;MLEAF=0.263,0.132;MQ=51.48;MQRankSum=1.62;QD=2.28;ReadPosRankSum=-1.960e-01;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:24,3,43:70:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1470,1420,2710,0,862,1432:20534604	5	0	9	2
chr15	20534647	20534647	C	0	exonic	GOLGA6L6	.	.	.	.	.	647	584	57	3	231	294	0.0511779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	649.96	67	chr15	20534647	.	C	*,T	649.96	.	AC=14,2;AF=0.333,0.048;AN=42;BaseQRankSum=0.996;DP=1957;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=14,2;MLEAF=0.333,0.048;MQ=52.26;MQRankSum=0.013;QD=0.62;ReadPosRankSum=0.174;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,43,0:70:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1470,0,1432,1606,1318,3009:20534604	5	0	14	0
chr15	20534663	20534663	G	0	exonic	GOLGA6L6	.	.	.	.	.	528	730	36	1	227	265	0.0253672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	276.43	67	chr15	20534663	.	G	GC,*	276.43	.	AC=1,12;AF=0.025,0.300;AN=40;BaseQRankSum=1.27;DP=1702;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=1,12;MLEAF=0.025,0.300;MQ=50.51;MQRankSum=-1.904e+00;QD=0.35;ReadPosRankSum=0.00;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:24,0,43:70:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1470,1606,3009,0,1318,1432:20534604	7	0	1	1
chr15	20534664	20534665	CT	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	123.44	67	chr15	20534664	.	CT	*,C	123.44	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=1.26;DP=1675;ExcessHet=11.8493;FS=1.307;InbreedingCoeff=-0.4745;MLEAC=12,1;MLEAF=0.300,0.025;MQ=49.82;MQRankSum=0.344;QD=0.15;ReadPosRankSum=0.955;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,43,0:70:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1470,0,1432,1606,1318,3009:20534604	7	0	12	1
chr15	20534665	20534665	T	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1769delA:p.E590Gfs*26,	.	.	554	732	222	4	10	240	0.135773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0047	0.0009	0.0012	0.0086	0.0010	0.0010	0.0071	0.0065	0.0013	0.0035	0.0024	0.0086	0.0024	0.0016	0.0007	0.0012	0.0030	0.0013	0.0023	0.0013	0.0012	0.0017	0.0011	0.0010	0.0014	0.0013	0.0007	0	0.0017	0	0.0011	0.0013	0	0.0017	0.0012	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	123.44	67	chr15	20534664	.	CT	*,C	123.44	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=1.26;DP=1675;ExcessHet=11.8493;FS=1.307;InbreedingCoeff=-0.4745;MLEAC=12,1;MLEAF=0.300,0.025;MQ=49.82;MQRankSum=0.344;QD=0.15;ReadPosRankSum=0.955;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,43,0:70:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1470,0,1432,1606,1318,3009:20534604	7	0	12	1
chr15	20534667	20534686	CCTTATCTTCTCCTCCTGCT	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1748_1767del:p.K583Rfs*43,	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0047	0.0014	0.0023	0.0079	0.0018	0.0017	0.0061	0.0055	0.0015	0.0036	0.0052	0.0079	0.0051	0.0038	0.0014	0.0019	0.0060	0.0022	0.0042	0.0024	0.0021	0.0035	0.0019	0.0018	0.0022	0.0020	0.0012	0	0.0035	0	0.0027	0.0020	0	0.0028	0.0028	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	115.09	67	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	C,*	115.09	.	AC=1,11;AF=0.028,0.306;AN=36;BaseQRankSum=2.35;DP=1656;ExcessHet=10.3454;FS=0.611;InbreedingCoeff=-0.4288;MLEAC=1,12;MLEAF=0.028,0.333;MQ=49.75;MQRankSum=0.586;QD=0.15;ReadPosRankSum=1.51;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:24,0,43:70:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1470,1606,3009,0,1318,1432:20534604	6	0	1	3
chr15	20534666	20534686	CCCTTATCTTCTCCTCCTGCT	0	exonic	GOLGA6L6	.	.	.	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	115.09	67	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	C,*	115.09	.	AC=1,11;AF=0.028,0.306;AN=36;BaseQRankSum=2.35;DP=1656;ExcessHet=10.3454;FS=0.611;InbreedingCoeff=-0.4288;MLEAC=1,12;MLEAF=0.028,0.333;MQ=49.75;MQRankSum=0.586;QD=0.15;ReadPosRankSum=1.51;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:24,0,43:70:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1470,1606,3009,0,1318,1432:20534604	6	0	1	3
chr15	20534667	20534667	C	0	exonic	GOLGA6L6	.	.	.	.	.	584	671	32	1	234	268	0.0247093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	276.54	67	chr15	20534667	.	C	*,CA	276.54	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=2.81;DP=1654;ExcessHet=14.4320;FS=0.598;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=49.17;MQRankSum=-1.904e+00;QD=0.32;ReadPosRankSum=0.453;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,43,0:70:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1470,0,1432,1606,1318,3009:20534604	6	0	13	1
chr15	20534668	20534670	CTT	0	exonic	GOLGA6L6	.	.	.	.	.	594	661	33	1	233	268	0.0257922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	240.54	67	chr15	20534668	.	CTT	*,C	240.54	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=1.75;DP=1651;ExcessHet=14.4320;FS=0.595;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=49.12;MQRankSum=-1.948e+00;QD=0.28;ReadPosRankSum=1.06;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,43,0:70:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1470,0,1432,1606,1318,3009:20534604	6	0	13	1
chr15	20534672	20534672	T	0	exonic	GOLGA6L6	.	.	.	.	.	554	704	31	1	232	265	0.0229008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	204.03	67	chr15	20534672	.	T	*,C	204.03	.	AC=13,1;AF=0.342,0.026;AN=38;BaseQRankSum=1.01;DP=1514;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.5167;MLEAC=14,1;MLEAF=0.368,0.026;MQ=49.17;MQRankSum=-1.240e+00;QD=0.24;ReadPosRankSum=0.861;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,43,0:70:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1470,0,1432,1606,1318,3009:20534604	5	0	13	2
chr15	20534676	20534676	C	0	exonic	GOLGA6L6	.	.	.	.	.	520	770	224	4	4	236	0.130926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	169.85	67	chr15	20534676	.	C	T,*	169.85	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=2.03;DP=1485;ExcessHet=12.7758;FS=0.000;InbreedingCoeff=-0.4784;MLEAC=1,13;MLEAF=0.026,0.342;MQ=51.07;MQRankSum=-7.020e-01;QD=0.22;ReadPosRankSum=-2.744e+00;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:24,0,43:70:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1470,1606,3009,0,1318,1432:20534604	6	0	1	2
chr15	20534684	20534684	G	0	exonic	GOLGA6L6	.	.	.	.	.	520	750	24	2	226	254	0.0183246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	199.87	67	chr15	20534684	.	G	*,A	199.87	.	AC=11,2;AF=0.289,0.053;AN=38;BaseQRankSum=-1.982e+00;DP=1452;ExcessHet=13.8672;FS=0.600;InbreedingCoeff=-0.4791;MLEAC=12,2;MLEAF=0.316,0.053;MQ=47.03;MQRankSum=0.825;QD=0.25;ReadPosRankSum=0.678;SOR=0.780	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,43,0:70:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1470,0,1432,1606,1318,3009:20534604	6	0	11	2
chr15	20534693	20534693	T	C	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.A1741G:p.M581V,	.	.	525	772	218	4	3	229	0.127684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.041	B	0.015	B	.	.	1.000	N	0.805	L	3.33	T	-0.935	T	0.009	T	0.033	-1.793	0.010	.	-1.777	-3.985	.	0.008	0.0074203089576	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310726190	0.0007	0.0036	0.0006	0.0008	0.0040	0.0006	0.0006	0.0029	0.0025	0.0012	0.0015	0.0011	0.0040	0.0015	0.0012	0.0005	0.0008	0.0016	0.0010	0.0023	0.0011	0.0010	0.0015	0.0009	0.0008	0.0012	0.0011	0.0005	0	0.0011	0	0.0007	0.0010	0.0046	0.0015	0.0013	0	.	.	.	0.419	0.14158	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.242	0.27316	-0.9348	0.43424	T	0.009	0.03403	T	7	0.029617101	0.01088	T	0.00742	0.19685	T	.	.	.	.	0.0138822411134	0.00435	0.004044001980495092	0.00379	.	.	0.559128940105	0.47145	T	0.012766	0.11161	T	-0.359971	0.04131	T	-0.75485	0.03301	T	0.0197057358900899	0.00672	T	0.435556	0.11926	T	0.18490703	0.39828	0.36883113	0.62165	0.18490703	0.39828	0.36883113	0.62165	-6.123	0.47297	T	.	.	0.138	0.30130	B	.	.	0.552275	0.09206	5.991	0.22101327030199044	0.00873	0.00122	0.00764	N	AEFI	0.026473	0.01994	N	-1.86920376427058	0.00397	0.01706604	-1.98812300616187	0.00324	0.01432719	1.00268384750379E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.142000	0.15917	-1.292000	0.05797	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3158	130.94	67	chr15	20534693	.	T	C,*	130.94	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=0.077;DP=1398;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4428;MLEAC=1,12;MLEAF=0.026,0.316;MQ=47.60;MQRankSum=1.05;QD=0.17;ReadPosRankSum=-2.776e+00;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:24,0,43:70:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1470,1606,3009,0,1318,1432:20534604	7	0	1	2
chr15	20534693	20534693	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	130.94	67	chr15	20534693	.	T	C,*	130.94	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=0.077;DP=1398;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4428;MLEAC=1,12;MLEAF=0.026,0.316;MQ=47.60;MQRankSum=1.05;QD=0.17;ReadPosRankSum=-2.776e+00;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:24,0,43:70:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1470,1606,3009,0,1318,1432:20534604	7	0	1	2
chr15	20534697	20534697	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	53.17	67	chr15	20534697	.	C	T,*	53.17	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=1.89;DP=1389;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4609;MLEAC=1,12;MLEAF=0.026,0.316;MQ=46.42;MQRankSum=0.821;QD=0.07;ReadPosRankSum=-2.438e+00;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:24,0,43:70:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1470,1606,3009,0,1318,1432:20534604	7	0	1	2
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1634.86	67	chr15	20534699	.	CCTCCTG	*,C	1634.86	.	AC=10,4;AF=0.263,0.105;AN=38;BaseQRankSum=-1.160e+00;DP=1326;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.5547;MLEAC=11,4;MLEAF=0.289,0.105;MQ=42.46;MQRankSum=-1.014e+00;QD=2.12;ReadPosRankSum=0.176;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,43,0:70:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1470,0,1432,1606,1318,3009:20534604	5	0	10	2
chr15	22080637	22080637	A	G	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.A13G:p.N5D,	.	.	1026	484	8	4	0	16	0.0162602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.98	D	0.915	D	0.000	D	0.870	N	3.665	H	4.43	T	-1.122	T	0.018	T	0.088	2.889	15.62	2.5	1.167	5.303	8.582	0.135	.	0.0082	.	0.0119	0.0349	0.0090	0	0.0041	0.0134	0.0091	0.0025	0.0098705	1526	154602	rs111484216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.56192	D	0.98	0.59353	D	0.915	0.65091	D	0.000114	0.50451	D	0.000000	0.87046	0.28215	N	2.895	0.83812	M	.	.	.	.	.	.	0.111	0.09772	-1.1218	0.02221	T	0.018	0.07518	T	10	0.0040432215	0.00079	T	.	.	.	.	.	.	.	.	.	0.07997864277807154	0.07932	.	.	.	.	.	0.033863	0.23088	T	-0.5922	0.00163	T	-0.604507	0.12435	T	0.055267436674093	0.06401	T	0.643236	0.25495	T	0.10142145	0.23956	0.17873825	0.40562	0.10142145	0.23956	0.17873825	0.40562	-8.976	0.67542	D	.	.	0.170	0.37274	B	.	.	4.391943	0.67793	25.1	0.99724402241935428	0.82266	0.90083	0.50987	D	AEFGBCI	0.574722	0.57739	D	0.574802962569376	0.71604	5.676308	0.399994223797025	0.61564	4.35835	0.991497242129926	0.32508	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	2.5	0.29355	3.058000	0.49632	8.721000	0.78162	0.334000	0.19664	0.992000	0.37556	1.000000	0.68203	0.469000	0.28319	1.0:0.0:0.0:0.0	8.582	0.32798	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1111	1867.53	14	chr15	22080637	.	A	G	1867.53	.	AC=4;AF=0.111;AN=36;BaseQRankSum=0.106;DP=478;ExcessHet=0.0113;FS=0.000;InbreedingCoeff=0.3866;MLEAC=5;MLEAF=0.139;MQ=33.98;MQRankSum=1.58;QD=13.73;ReadPosRankSum=0.310;SOR=0.487	GT:AD:DP:GQ:PL	0/1:37,16:53:99:442,0,1139	15	1	2	3
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L,	.	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.001	N	1.000	P	-3.045	N	8.91	T	-0.972	T	0.000	T	0.111	-2.796	0	0.487	-0.314	-1.168	6.210	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.875	49876.32	41	chr15	22081297	.	T	C	49876.32	.	AC=35;AF=0.875;AN=40;BaseQRankSum=9.54;DP=2745;ExcessHet=0.0454;FS=83.218;InbreedingCoeff=0.3143;MLEAC=36;MLEAF=0.900;MQ=39.56;MQRankSum=-1.124e+01;QD=20.13;ReadPosRankSum=0.928;SOR=4.411	GT:AD:DP:GQ:PL	1/1:0,92:92:99:3027,277,0	1	16	3	1
chr15	22768275	22768275	C	0	exonic	GOLGA6L7	.	.	.	.	.	1270	216	4	27	5	63	0.118367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5455	544.05	2	chr15	22768275	.	C	G,*	544.05	.	AC=8,4;AF=0.364,0.182;AN=22;BaseQRankSum=1.14;DP=74;ExcessHet=0.1935;FS=1.619;InbreedingCoeff=0.2348;MLEAC=12,6;MLEAF=0.545,0.273;MQ=53.08;MQRankSum=-9.670e-01;QD=15.11;ReadPosRankSum=-9.900e-02;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:2,0,3:5:76:.:.:78,86,184,0,85,76	3	3	2	10
chr15	22768297	22768297	A	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	115.02	2	chr15	22768297	.	A	C,*	115.02	.	AC=1,4;AF=0.033,0.133;AN=30;BaseQRankSum=0.00;DP=69;ExcessHet=0.0840;FS=0.000;InbreedingCoeff=0.1846;MLEAC=2,5;MLEAF=0.067,0.167;MQ=52.92;MQRankSum=-5.240e-01;QD=6.77;ReadPosRankSum=-1.282e+00;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:2,0,3:5:76:.:.:78,86,184,0,85,76	11	0	1	6
chr15	22768302	22768302	T	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2353	314.45	2	chr15	22768302	.	T	G,TCATCTGCTCCTCCTGCTCCCCCATCTGCTCCTCCTGCTTCCG,*	314.45	.	AC=1,3,4;AF=0.029,0.088,0.118;AN=34;BaseQRankSum=0.967;DP=71;ExcessHet=0.0602;FS=1.808;InbreedingCoeff=0.2297;MLEAC=1,3,4;MLEAF=0.029,0.088,0.118;MQ=50.65;MQRankSum=-5.240e-01;QD=12.58;ReadPosRankSum=-1.282e+00;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:2,0,0,3:5:76:.:.:78,86,184,86,184,184,0,85,85,76	11	0	1	4
chr15	22769367	22769367	T	C	exonic	GOLGA6L7	.	unknown	UNKNOWN,	.	.	777	727	2	7	9	25	0.0108844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327727541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062	0.0066	0.0062	0.0062	0.0150	0.0057	0.0056	0.0135	0.0130	0.0150	0.0021	0.0058	0.0068	0.0008	0.0008	0	0.0028	0.0050	0.0150	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	174.63	3	chr15	22769367	.	T	C,*	174.63	.	AC=2,5;AF=0.056,0.139;AN=36;BaseQRankSum=-9.670e-01;DP=125;ExcessHet=0.0107;FS=1.882;InbreedingCoeff=0.2868;MLEAC=2,5;MLEAF=0.056,0.139;MQ=57.17;MQRankSum=1.28;QD=6.47;ReadPosRankSum=1.01;SOR=0.780	GT:AD:DP:GQ:PL	0/1:2,8,0:10:33:153,0,33,159,56,215	13	0	2	3
chr15	22769367	22769367	T	0	exonic	GOLGA6L7	.	.	.	.	.	777	727	2	7	9	25	0.0108844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	174.63	3	chr15	22769367	.	T	C,*	174.63	.	AC=2,5;AF=0.056,0.139;AN=36;BaseQRankSum=-9.670e-01;DP=125;ExcessHet=0.0107;FS=1.882;InbreedingCoeff=0.2868;MLEAC=2,5;MLEAF=0.056,0.139;MQ=57.17;MQRankSum=1.28;QD=6.47;ReadPosRankSum=1.01;SOR=0.780	GT:AD:DP:GQ:PL	0/1:2,8,0:10:33:153,0,33,159,56,215	13	0	2	3
chr15	23363224	23363224	G	C	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon13:c.G600C:p.M200I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000886254932137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.079e-06	2.73e-06	4.453e-06	0	3.475e-06	0	0	.	.	0	0	0	0	0	0	3.475e-06	0	0	0	1.325e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.357	0.12032	T	0.186	0.28860	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.0	0.21473	T	-1.58	0.38151	N	0.211	0.23506	.	.	.	.	.	.	.	0.14648822	0.27772	T	8.86E-4	0.00800	T	.	.	.	.	0.688244838956	0.68557	0.1269078769848915	0.12616	0.689296291096	0.60477	.	.	.	.	.	.	-0.205274	0.20049	T	-0.532639	0.19023	T	.	.	.	0.585741	0.21356	T	0.059359826	0.12056	0.058446903	0.10801	0.059359826	0.12055	0.058446903	0.10800	-4.361	0.29023	T	.	.	0.580	0.68061	P	.	.	1.305179	0.17078	12.94	0.66669864729899508	0.08127	0.07419	0.13438	N	AEFI	0.045628	0.07484	N	.	.	.	.	.	.	1.78607056915729E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.848	0.848	0.18105	-0.115000	0.10713	0.140000	0.15159	0.328000	0.19510	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.0:1.0:0.0	5.168	0.14423	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	54.38	13	chr15	23363224	.	G	C	54.38	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.897e+00;DP=216;ExcessHet=0.0000;FS=6.284;InbreedingCoeff=-0.0283;MLEAC=1;MLEAF=0.025;MQ=23.79;MQRankSum=2.62;QD=3.20;ReadPosRankSum=-9.060e-01;SOR=0.020	GT:AD:DP:GQ:PL	0/1:13,4:17:68:68,0,315	19	0	1	1
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	47381.92	167	chr15	23440492	.	C	*,T	47381.92	.	AC=19,19;AF=0.452,0.452;AN=42;BaseQRankSum=1.77;DP=3542;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=19,19;MLEAF=0.452,0.452;MQ=58.25;MQRankSum=-4.110e-01;QD=13.88;ReadPosRankSum=0.477;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:63,0,46:109:99:.:.:873,1062,2685,0,1624,1498	0	0	2	0
chr15	23441117	23441117	C	T	exonic	GOLGA6L2	.	nonsynonymous SNV	GOLGA6L2:NM_001304388:exon8:c.G1358A:p.R453Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.036	B	0.006	B	.	.	1.000	N	.	.	2.91	T	-1.018	T	0.052	T	0.103	-0.755	0.802	.	-0.437	0.346	.	0.016	0.00458136986888	.	.	6.799e-05	0.0013	0	0	0	0	0	0	1.29e-05	2	154602	rs752171828	1.377e-05	1.577e-05	1.574e-05	1.175e-05	0.0001	8.81e-06	7.1e-06	3.849e-05	2.283e-05	0	0	0	0.0001	0	0	1.306e-05	1.74e-05	0	2.032e-05	5.336e-05	2.647e-05	1.388e-05	5.088e-05	5.4e-06	2.5e-06	8.43e-06	3.15e-06	5.088e-05	0	0	0	0	0	0	1.488e-05	0	0	0.327	0.13262	T	0.411	0.20615	T	0.036	0.20732	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-2.01	0.85468	D	-0.93	0.24898	N	0.095	0.09631	-1.0177	0.24463	T	0.052	0.22076	T	6	0.037001103	0.02028	T	0.004581	0.11315	T	0.016	0.02506	0.234	0.16305	0.178374595973	0.17440	0.319120271615477	0.31825	0.0139416977925	0.01327	0.502914607525	0.39233	T	0.008402	0.22626	T	-0.180393	0.23677	T	-0.496899	0.22670	T	0.0319821159996843	0.02303	T	0.463154	0.19484	T	0.10911229	0.25798	0.12122207	0.29249	0.10911229	0.25798	0.12122207	0.29248	-4.219	0.27026	T	.	.	0.089	0.12276	B	.;.	.;.	0.389145	0.07609	4.269	0.46516666077135271	0.03732	0.00054	0.00410	N	AEFBI	0.019354	0.00664	N	-1.27658935244671	0.03959	0.1778184	-1.42436568336465	0.03010	0.1396001	1.94554029895454E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	.	.	.	-0.297000	0.08312	.	.	-1.549000	0.00965	0.000000	0.06391	.	.	0.000000	0.00833	.	.	.	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	793.98	64	chr15	23441117	.	C	T	793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.349;DP=1692;ExcessHet=0.0000;FS=1.868;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=-1.424e+00;QD=10.31;ReadPosRankSum=0.999;SOR=0.876	GT:AD:DP:GQ:PL	0/1:39,38:77:99:808,0,849	20	0	1	0
chr15	30088800	30088800	G	A	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon9:c.G652A:p.A218T,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	.	.	1.000	N	.	.	2.66	T	-0.992	T	0.030	T	0.206	1.718	11.70	-1.16	-0.221	0.079	4.148	0.052	.	.	.	0.0057	0	0	0	0	0.0068	0	0.0109	0.0002689	7	26028	rs4287545	0.0018	0.0033	0.0018	0.0019	0.0020	0.0018	0.0017	0.0018	0.0018	0.0008	0.0020	0.0004	0.0019	0.0018	0.0010	0.0019	0.0029	0.0010	0.0044	0.0060	0.0044	0.0044	0.0066	0.0041	0.0040	0.0060	0.0058	0.0010	0	0.0066	0.0015	0.0006	0.0032	0	0.0065	0.0020	0.0053	0.086	0.32610	T	0.103	0.38305	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.535	0.73915	M	1.98	0.21865	T	-2.55	0.55181	D	0.081	0.05670	-0.9917	0.32167	T	0.030	0.12804	T	6	0.008475244	0.00192	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.14494084004907667	0.14417	2.10514115045	0.94873	.	.	.	0.026141	0.19408	T	-0.252404	0.13805	T	-0.600338	0.12783	T	0.0171641888311946	0.00461	T	.	.	.	0.059740167	0.12177	0.099883825	0.23863	0.059740167	0.12177	0.099883825	0.23862	-4.518	0.31123	T	.	.	0.104	0.18991	B	.	.	1.288092	0.16887	12.83	0.92723156473253432	0.22220	0.00850	0.03394	N	AEFI	0.034978	0.04426	N	-1.07308105278837	0.07143	0.3309249	-1.29680487304776	0.04474	0.21111	1.99687102599383E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.38	-1.16	0.09181	0.162000	0.16318	4.816000	0.45080	-0.653000	0.04380	0.000000	0.06391	0.998000	0.33993	0.000000	0.00833	0.4413:0.0:0.5587:0.0	4.148	0.09692	483	0.77230	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	240.98	33	chr15	30088800	.	G	A	240.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.691;DP=730;ExcessHet=0.0000;FS=22.668;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=31.30;MQRankSum=1.97;QD=8.61;ReadPosRankSum=-2.906e+00;SOR=2.209	GT:AD:DP:GQ:PL	0/1:18,10:28:99:255,0,457	20	0	1	0
chr15	30089711	30089711	C	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon12:c.C886G:p.P296A,	.	.	480	1006	35	1	0	37	0.0180576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	.	.	.	.	.	.	1.000	N	.	.	2.05	T	-0.963	T	0.029	T	0.117	0.376	6.043	-2.95	-0.930	-0.712	10.425	0.041	0.0027425824986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879887589	0.0003	0.0020	0.0002	0.0003	0.0017	0.0002	0.0002	0.0015	0.0014	6.978e-05	9.133e-05	0.0004	5.099e-05	0.0004	0.0003	0.0002	0.0002	0.0017	0.0003	0.0016	0.0003	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0002	0	0.0002	0.0003	0	0.0003	0.0006	0.0006	0.227	0.18498	T	0.496	0.11335	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.93	0.51437	L	2.05	0.20664	T	-3.58	0.69118	D	0.106	0.09066	-0.9630	0.38606	T	0.029	0.12541	T	6	0.094885945	0.16906	T	0.002743	0.05665	T	.	.	.	.	0.0716867268079	0.06686	0.11248298003423093	0.11177	1.31169626058	0.83235	.	.	.	0.030108	0.21421	T	-0.314437	0.07363	T	-0.689443	0.06421	T	0.199820421397174	0.20406	T	.	.	.	0.048880808	0.08589	0.08423339	0.19361	0.048880808	0.08589	0.08423339	0.19361	-6.842	0.52871	T	.	.	0.087	0.11076	B	.	.	-0.105049	0.03612	0.711	0.83777591716518451	0.14914	0.00215	0.01220	N	AEFI	0.019229	0.00649	N	-1.00919157480949	0.08412	0.3943451	-1.25831076326989	0.05009	0.2376793	7.76039442725622E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.48	-2.95	0.05229	-0.155000	0.10101	-2.034000	0.04313	0.283000	0.18654	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2959:0.7041:0.0	10.425	0.43559	483	0.77230	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	75.22	39	chr15	30089711	.	C	G	75.22	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.009e+00;DP=684;ExcessHet=0.1072;FS=3.745;InbreedingCoeff=-0.0536;MLEAC=2;MLEAF=0.048;MQ=35.09;MQRankSum=-1.332e+00;QD=0.70;ReadPosRankSum=2.45;SOR=0.513	GT:AD:DP:GQ:PL	0/1:30,7:37:63:63,0,889	19	0	2	0
chr15	30367498	30367498	C	T	exonic	CHRFAM7A;CHRNA7	.	nonsynonymous SNV	CHRNA7:NM_000746:exon5:c.G562A:p.V188M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.46	M	-2.36	D	0.726	D	0.792	D	0.56	4.155	21.5	3.23	1.535	7.232	12.347	0.817	0.103915429869	.	.	8.32e-06	0	0	0	0	1.511e-05	0	0	3.84e-05	1	26028	rs766993157	4.187e-05	6.237e-05	4.099e-05	4.277e-05	5.235e-05	3.322e-05	3.011e-05	4.106e-05	3.755e-05	3.002e-05	0	0	0	0	0	5.235e-05	0	2.323e-05	3.975e-05	4.607e-05	2.592e-05	5.421e-05	0.0002	1.727e-05	1.137e-05	8.08e-06	3.02e-06	4.874e-05	0	0	0	0.0002	0	0	2.959e-05	0	0.0002	0.001	0.91255	D	0.02	0.58613	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.62929	D	0.055753	1	0.81001	D	3.945	0.96414	H	-2.36	0.88143	D	-2.66	0.59389	D	0.889	0.88798	0.726	0.93500	D	0.792	0.92952	D	10	0.8639289	0.85626	D	0.103915	0.77821	D	0.817	0.94123	0.638	0.77470	0.799336567901	0.79746	0.7512883835568009	0.75075	.	.	.	.	.	0.430055	0.77865	T	0.0714871	0.61029	D	0.0470567	0.73390	D	0.995194375514984	0.86995	D	0.992842	0.97650	D	0.672776	0.76582	0.6421947	0.79091	0.672776	0.76583	0.6421947	0.79092	-11.968	0.84695	D	.	.	0.963	0.92607	P	.;.;.	.;.;.	5.332661	0.89486	30	0.99879510057093868	0.95572	0.93759	0.59110	D	AEFGI	0.845252	0.76217	D	0.625082920891182	0.74764	6.188608	0.521766079066619	0.69455	5.363123	0.953933083965326	0.28102	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	3.23	3.23	0.36150	7.297000	0.78143	7.519000	0.59733	0.291000	0.18778	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:1.0:0.0:0.0	12.347	0.54454	975	0.05339	Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1718.98	37	chr15	30367498	.	C	T	1718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=1175;ExcessHet=0.0000;FS=0.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.64;MQRankSum=-4.457e+00;QD=3.87;ReadPosRankSum=0.384;SOR=0.745	GT:AD:DP:GQ:PL	0/1:329,115:444:99:1733,0,6780	20	0	1	0
chr15	31229304	31229304	G	-	exonic	LOC283710	.	frameshift deletion	LOC283710:NM_001243538:exon2:c.75delC:p.R26Gfs*101,	.	.	454	9	11	367	681	1426	0.976409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	53256.77	60	chr15	31229302	.	CGG	C,CG	53256.77	.	AC=29,13;AF=0.690,0.310;AN=42;BaseQRankSum=1.54;DP=1738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=30,12;MLEAF=0.714,0.286;MQ=60.00;MQRankSum=0.00;QD=28.91;ReadPosRankSum=-3.970e-01;SOR=0.473	GT:AD:DP:GQ:PL	1/2:0,43,26:69:99:2260,674,549,1277,0,1088	0	10	0	0
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.974	D	0.014	N	0.997	N	.	.	0.86	T	-0.312	T	0.279	T	0.74	2.736	15.11	5.96	2.285	2.823	11.519	0.118	0.0439174776103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.269e-06	0.0003	8.328e-06	4.195e-06	3.048e-05	2.95e-06	2.14e-06	3.16e-06	2.28e-06	3.048e-05	0	0	0	0	0	7.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.149	0.63918	T	0.999	0.90584	D	0.961	0.73157	D	0.013889	0.28700	N	0.367334	.	.	.	.	.	.	0.86	0.52416	T	-1.05	0.30140	N	0.667	0.67564	-0.3122	0.74643	T	0.279	0.65058	T	8	0.56316704	0.64902	D	0.043917	0.61227	D	0.118	0.32913	0.237	0.16760	0.692833615445	0.69019	.	.	0.0243119155432	0.02469	.	.	.	.	.	.	0.065645	0.60314	T	-0.143482	0.59815	T	0.97686767578125	0.71575	D	.	.	.	.	.	.	.	.	.	.	.	-11.775	0.83737	D	.	.	0.768	0.82694	P	.;.	.;.	1.889637	0.24000	16.23	0.99337903151617613	0.60051	0.70445	0.34593	D	AEFBCI	0.339556	0.43666	N	0.607978743589503	0.73679	6.005621	0.621611519535191	0.76513	6.504682	0.999997974355125	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	2.674000	0.46532	7.052000	0.57375	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.8664:0.0:0.0:0.1336	11.519	0.49792	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	2973.31	80	chr15	33066576	.	A	G	2973.31	.	AC=8;AF=0.333;AN=24;BaseQRankSum=-3.410e-01;DP=1903;ExcessHet=3.5521;FS=152.585;InbreedingCoeff=-0.4238;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=3.75;ReadPosRankSum=0.714;SOR=10.260	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,15:107:99:0|1:33066576_A_G:323,0,3801:33066576	4	0	8	9
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.986	D	0.799	P	0.001	D	.	.	.	.	0.34	T	-0.655	T	0.195	T	0.183	2.701	14.99	3.06	0.846	0.241	5.341	0.121	0.0297600126912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	0.0001	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.31834	T	0.298	0.32355	T	0.859	0.61523	P	0.569	0.58136	P	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.34	0.59717	T	-1.06	0.27669	N	0.523	0.55280	-0.6555	0.62473	T	0.195	0.54913	T	8	0.3596483	0.52628	T	0.02976	0.52206	D	0.121	0.33580	0.179	0.08626	0.723881056707	0.72144	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.156676	0.27274	T	-0.46283	0.26291	T	0.960661649703979	0.65867	D	.	.	.	.	.	.	.	.	.	.	.	-8.241	0.62700	D	.	.	0.231	0.54353	B	.;.	.;.	0.926501	0.13016	9.521	0.9948329941711106	0.67014	0.72494	0.35481	D	AEFBCI	0.313711	0.41879	N	0.240855582260182	0.53189	3.48888	0.245955025105221	0.52420	3.416909	0.999871332870031	0.44625	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	3.06	0.34374	0.207000	0.17194	0.009000	0.13411	0.599000	0.40250	0.983000	0.35670	0.800000	0.26941	0.903000	0.43903	0.1331:0.5968:0.0:0.2702	5.341	0.15286	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	3066.26	80	chr15	33066577	.	C	G	3066.26	.	AC=9;AF=0.375;AN=24;BaseQRankSum=-6.420e-01;DP=1917;ExcessHet=4.7172;FS=160.684;InbreedingCoeff=-0.4737;MLEAC=12;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=3.55;ReadPosRankSum=0.903;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,15:110:99:0|1:33066576_A_G:314,0,3911:33066576	3	0	9	9
chr15	33066579	33066579	C	T	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306A:p.E436K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.984	D	0.001	D	.	.	.	.	0.21	T	-0.301	T	0.421	T	0.739	4.442	23.7	5.96	2.832	6.805	20.422	0.219	0.0640291295364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.172	0.63918	T	0.999	0.90584	D	0.984	0.76113	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.21	0.61798	T	-1.7	0.49684	N	0.735	0.73826	-0.3008	0.74963	T	0.421	0.76630	T	8	0.7212701	0.73678	D	0.064029	0.69152	D	0.219	0.51417	0.231	0.15855	0.748136256137	0.74586	.	.	0.0231449100248	0.02349	.	.	.	.	.	.	0.142383	0.68551	D	-0.0332535	0.68153	D	0.952831566333771	0.63885	D	.	.	.	.	.	.	.	.	.	.	.	-12.099	0.85330	D	.	.	0.586	0.71819	P	.;.	.;.	2.594882	0.33671	19.41	0.99883603428231948	0.95892	0.93420	0.58169	D	AEFBCI	0.825608	0.74527	D	0.777670272844729	0.84690	8.359056	0.801274126872763	0.89881	10.16146	0.99999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1154	559.28	59	chr15	33066579	.	C	T,G	559.28	.	AC=1,2;AF=0.038,0.077;AN=26;BaseQRankSum=-2.851e+00;DP=1869;ExcessHet=0.3300;FS=100.350;InbreedingCoeff=-0.2083;MLEAC=1,3;MLEAF=0.038,0.115;MQ=60.00;MQRankSum=0.00;QD=1.79;ReadPosRankSum=0.563;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:96,0,15:111:99:0|1:33066576_A_G:311,600,4577,0,3978,3933:33066576	10	0	1	8
chr15	33066579	33066579	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306C:p.E436Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	1.0	D	0.993	D	0.001	D	.	.	.	.	0.2	T	-0.397	T	0.409	T	0.427	3.909	19.88	5.96	2.832	6.805	20.422	0.220	0.0465556673304	.	.	2.721e-05	0	0	0	0	4.859e-05	0	0	1.94e-05	3	154602	rs955154800	2.466e-05	2.805e-05	3.135e-05	1.79e-05	3.15e-05	1.806e-05	1.603e-05	2.287e-05	2.024e-05	0	0	0	0	1.874e-05	0	3.15e-05	0	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.003	0.68238	D	0.286	0.60972	T	1.0	0.90584	D	0.989	0.81110	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.2	0.61923	T	-1.07	0.39314	N	0.607	0.62442	-0.3966	0.72134	T	0.409	0.75810	T	8	0.5905696	0.66356	D	0.046556	0.62513	D	0.220	0.51569	0.204	0.11936	0.824378962961	0.82271	.	.	0.0221738766814	0.02225	.	.	.	.	.	.	-0.0740485	0.40679	T	-0.236485	0.51141	T	0.808419227600098	0.46935	D	.	.	.	.	.	.	.	.	.	.	.	-8.327	0.63277	D	.	.	0.419	0.64113	A	.;.	.;.	2.541376	0.32879	19.17	0.99614688724551159	0.75052	0.94574	0.61609	D	AEFBCI	0.820935	0.74161	D	0.762264303690397	0.83701	8.086839	0.787779339582059	0.88930	9.771612	0.99999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1154	559.28	59	chr15	33066579	.	C	T,G	559.28	.	AC=1,2;AF=0.038,0.077;AN=26;BaseQRankSum=-2.851e+00;DP=1869;ExcessHet=0.3300;FS=100.350;InbreedingCoeff=-0.2083;MLEAC=1,3;MLEAF=0.038,0.115;MQ=60.00;MQRankSum=0.00;QD=1.79;ReadPosRankSum=0.563;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:96,0,15:111:99:0|1:33066576_A_G:311,600,4577,0,3978,3933:33066576	10	0	1	8
chr15	33066580	33066580	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1305C:p.K435N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	.	.	.	.	-0.38	T	0.078	D	0.453	T	0.277	2.615	14.70	4.1	0.875	-0.168	10.418	0.261	0.097882166908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	3.42e-06	0	2.755e-06	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.154	0.70582	T	1.0	0.90584	D	0.999	0.97372	D	0.000001	0.62929	D	0.096983	.	.	.	.	.	.	-0.38	0.72458	T	-2.13	0.59389	N	0.608	0.62526	0.078	0.83767	D	0.453	0.78650	T	8	0.56676614	0.65094	D	0.097882	0.76848	D	0.261	0.57352	0.305	0.27485	0.831138789675	0.82953	.	.	0.0235372491196	0.02386	.	.	.	.	.	.	-0.0593099	0.43016	T	-0.322971	0.42248	T	0.990393579006195	0.80614	D	.	.	.	.	.	.	.	.	.	.	.	-10.821	0.78667	D	.	.	0.891	0.85423	P	.;.	.;.	1.014109	0.13930	10.49	0.99542673395090209	0.70586	0.65955	0.32912	D	AEFBCI	0.401493	0.47596	N	0.357394877581215	0.59132	4.09007	0.32151679407882	0.56807	3.84457	0.999972656303353	0.50053	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	-0.266000	0.08660	-0.170000	0.11235	0.599000	0.40250	0.526000	0.27158	0.290000	0.24159	0.957000	0.51019	0.0:0.7827:0.0:0.2173	10.418	0.43521	718	0.55760	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	945.24	59	chr15	33066580	.	C	G	945.24	.	AC=4;AF=0.167;AN=24;BaseQRankSum=-2.314e+00;DP=1836;ExcessHet=0.6776;FS=128.085;InbreedingCoeff=-0.2756;MLEAC=6;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.546;SOR=8.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,15:111:99:0|1:33066576_A_G:311,0,3933:33066576	8	0	4	9
chr15	33066583	33066583	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1302C:p.E434D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.989	D	0.803	P	0.000	D	1.000	N	.	.	1.03	T	-0.682	T	0.170	T	0.554	2.292	13.62	4.1	0.872	0.096	10.665	0.205	0.0174432321193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.18061	T	0.252	0.29056	T	0.724	0.62824	P	0.292	0.58300	B	0.000000	0.84330	D	0.049723	.	.	.	.	.	.	1.03	0.48142	T	-0.87	0.23590	N	0.263	0.29774	-0.6821	0.61275	T	0.170	0.51052	T	8	0.18176183	0.33423	T	0.017443	0.39139	T	0.205	0.49236	0.196	0.10839	0.633120732306	0.63011	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.101551	0.36169	T	-0.383648	0.35295	T	0.987011551856995	0.77596	D	.	.	.	.	.	.	.	.	.	.	.	-7.933	0.60613	D	.	.	0.457	0.69267	A	.;.	.;.	1.631232	0.20829	14.93	0.99234608538238822	0.56342	0.62108	0.31682	D	AEFBCI	0.207444	0.33361	N	0.193011064254835	0.50863	3.272384	0.226642513300989	0.51332	3.316546	0.999944989826091	0.47345	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	0.147000	0.16021	1.800000	0.28874	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.964000	0.52637	0.0:0.7464:0.0:0.2536	10.665	0.44923	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1538	573.81	76	chr15	33066583	.	C	G,T	573.81	.	AC=2,2;AF=0.077,0.077;AN=26;BaseQRankSum=-1.984e+00;DP=1824;ExcessHet=0.6776;FS=218.128;InbreedingCoeff=-0.2205;MLEAC=2,3;MLEAF=0.077,0.115;MQ=60.00;MQRankSum=0.00;QD=1.65;ReadPosRankSum=0.751;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,15,0:110:99:0|1:33066576_A_G:314,0,3870,600,3916,4515:33066576	9	0	2	8
chr15	33088938	33088938	T	C	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001277313:exon5:c.A1904G:p.N635S,	.	.	430	1064	27	1	0	29	0.0134446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00579073	0.0149	0	0	0	0	0.0017	0.0227	0.0229	0.0016559	256	154602	rs181008299	0.0026	0.0024	0.0020	0.0032	0.0218	0.0025	0.0025	0.0209	0.0206	0.0001	0.0011	0.0002	2.798e-05	0.0148	0.0067	0.0010	0.0027	0.0218	0.0023	0.0023	0.0016	0.0030	0.0203	0.0021	0.0020	0.0170	0.0158	9.627e-05	0	0.0015	0	0.0004	0.0115	0	0.0014	0.0009	0.0203	0.882	0.02532	T	0.512	0.10750	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.22	0.03977	N	1.11	0.38883	T	0.11	0.05706	N	0.026	0.00527	.	.	.	.	.	.	.	0.0014220476	0.00015	T	.	.	.	.	.	.	.	.	.	0.029195515721522472	0.02868	.	.	0.276002764702	0.06942	T	0.04835	0.27991	T	-0.708137	0.00033	T	-0.77238	0.02690	T	.	.	.	.	.	.	0.02616488	0.01640	0.034886222	0.02636	0.02616488	0.01639	0.034886222	0.02635	-1.13	0.01155	T	.	.	0.054	0.00309	B	.;.	.;.	-0.517751	0.01811	0.142	0.52692756404091912	0.04796	0.00826	0.03330	N	AEFBI	0.032923	0.03812	N	.	.	.	.	.	.	0.999999999668005	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.17	-10.3	0.00281	-1.774000	0.01882	-3.680000	0.02610	-0.718000	0.03832	0.010000	0.18352	0.000000	0.08366	0.812000	0.38265	0.1073:0.4907:0.2352:0.1668	5.498	0.16102	860	0.33753	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1785.98	35	chr15	33088938	.	T	C	1785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.094e+00;DP=883;ExcessHet=0.0000;FS=1.385;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=-1.232e+00;SOR=0.576	GT:AD:DP:GQ:PL	0/1:57,75:132:99:1800,0,1451	20	0	1	0
chr15	40569840	40569840	C	T	exonic	RPUSD2	.	nonsynonymous SNV	RPUSD2:NM_152260:exon1:c.C503T:p.T168I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.731	P	0.342	B	0.001	D	1.000	D	2.345	M	1.4	T	-0.986	T	0.114	T	0.416	3.617	18.40	5.0	1.478	1.403	11.864	0.123	0.0122947782461	.	.	9.979e-06	0	0	0	0	1.763e-05	0	0	6.5e-06	1	154602	rs755245364	6.848e-07	6.84e-07	0	1.377e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.163	0.60337	T	0.731	0.42679	P	0.342	0.42471	B	0.000804	0.41658	D	0.316853	0.968397	0.81001	D	2.295	0.65404	M	1.4	0.33630	T	-2.42	0.53096	N	0.533	0.56145	-0.9860	0.33590	T	0.114	0.40559	T	10	0.267299	0.44240	T	0.012295	0.30730	T	0.123	0.34020	0.44	0.49484	0.518641613453	0.51507	0.47111144063666466	0.47030	0.508147342474	0.48980	0.592266798019	0.51814	T	0.223295	0.69252	T	-0.0899163	0.38089	T	-0.366935	0.37248	T	0.929599046707153	0.59376	D	0.952605	0.81930	D	0.2224624	0.44846	0.35294014	0.60864	0.2224624	0.44846	0.35294014	0.60863	-7.556	0.58003	D	.	.	0.391	0.67441	A	.;.	.;.	3.704913	0.52863	23.3	0.99732394120687951	0.82833	0.61206	0.31417	D	AEFDGBCIJ	0.240374	0.36217	N	0.270837192239157	0.54676	3.632686	0.311917883032116	0.56238	3.787003	0.999999998464958	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.93	5.0	0.66209	1.449000	0.34734	2.735000	0.34419	0.599000	0.40250	0.885000	0.31090	0.994000	0.32194	0.989000	0.64315	0.138:0.7293:0.1327:0.0	11.864	0.51762	654	0.62520	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1684.98	36	chr15	40569840	.	C	T	1684.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=907;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=-2.581e+00;SOR=0.739	GT:AD:DP:GQ:PL	0/1:93,71:164:99:1699,0,2283	20	0	1	0
chr15	40844762	40844762	A	C	exonic	SPINT1	.	nonsynonymous SNV	SPINT1:NM_001032367:exon1:c.A208C:p.S70R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.012	B	0.007	B	0.004	N	1.000	N	0.95	L	1.93	T	-1.020	T	0.034	T	0.334	1.890	12.28	1.2	0.010	2.215	5.806	0.046	0.0122649523493	.	0.000599042	0.0002	0	0	0	0	0	0	0.0015	0.0001682	26	154602	rs553670634	5.756e-05	5.814e-05	3.953e-05	7.578e-05	0.0009	4.751e-05	4.373e-05	0.0007	0.0007	0	0	0	0	0	0	0	0.0001	0.0009	5.252e-05	5.249e-05	3.854e-05	6.712e-05	0.0017	2.555e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.563	0.13834	T	0.911	0.06186	T	0.002	0.16265	B	0.004	0.12992	B	0.003617	0.34713	N	0.351766	0.86561	0.29752	N	1.405	0.35469	L	1.93	0.22881	T	-0.12	0.14193	N	0.132	0.12770	-1.0202	0.23649	T	0.034	0.14769	T	10	0.018105745	0.00391	T	0.012265	0.30673	T	0.046	0.12618	0.601	0.73226	0.246773566709	0.24272	0.45712219036125085	0.45630	0.211475675499	0.23653	0.466696768999	0.34228	T	0.056859	0.30407	T	-0.438109	0.01327	T	-0.452531	0.27417	T	0.0756958797574043	0.09427	T	0.767723	0.40735	T	0.17505017	0.38342	0.06490178	0.13078	0.17505017	0.38341	0.06490178	0.13077	-0.473	0.00567	T	.	.	0.240	0.47611	B	.;.;.;.	.;.;.;.	1.864800	0.23687	16.11	0.98362156287383229	0.40658	0.68749	0.33920	D	AEFDGBHCI	0.419166	0.48651	N	-0.502131523059776	0.22012	1.172321	-0.376468169787541	0.25700	1.414948	0.999999979085396	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.52208	0.10781	0	0.604282	0.37693	0	.	.	4.84	1.2	0.20181	1.802000	0.38490	1.140000	0.24397	0.751000	0.87719	1.000000	0.71638	0.158000	0.23238	0.927000	0.46353	0.5853:0.1716:0.2431:0.0	5.806	0.17702	194	0.92479	.;Seven cysteines, N-terminal|MANSC domain|Seven cysteines, N-terminal;Seven cysteines, N-terminal|MANSC domain|Seven cysteines, N-terminal;Seven cysteines, N-terminal|MANSC domain|Seven cysteines, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2748.98	34	chr15	40844762	.	A	C	2748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.840e-01;DP=964;ExcessHet=0.0000;FS=2.818;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=-1.270e-01;SOR=0.902	GT:AD:DP:GQ:PL	0/1:128,119:247:99:2763,0,3152	20	0	1	0
chr15	41762355	41762355	G	T	exonic	MGA	.	nonsynonymous SNV	MGA:NM_001080541:exon21:c.G7110T:p.Q2370H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.01	B	0.018	B	0.019	N	0.931	N	0.695	N	-1.9	D	-0.716	T	0.365	T	0.388	3.041	16.15	3.31	0.489	1.155	9.252	0.203	0.0136089983046	.	.	1.665e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs758420841	2.054e-06	2.052e-06	2.725e-06	1.376e-06	8.976e-05	5.5e-07	1.5e-07	2.378e-05	1.259e-05	8.976e-05	0	0	0	0	0	0	0	0	1.319e-05	1.316e-05	1.288e-05	1.351e-05	4.848e-05	2.19e-06	8.2e-07	8.03e-06	3.01e-06	4.848e-05	0	0	0	0	0	0	0	0	0	0.429	0.19927	T	0.156	0.31833	T	.	.	.	.	.	.	0.018919	0.27374	N	0.257159	0.998371	0.27057	N	.	.	.	-1.92	0.84773	D	-0.86	0.30964	N	0.349	0.39052	-0.7164	0.59639	T	0.365	0.72575	T	10	0.082978725	0.13754	T	0.013609	0.33144	T	0.203	0.48915	0.132	0.03662	0.346610688518	0.34274	0.39884212591391127	0.39799	0.0905393262645	0.10218	0.320774972439	0.13539	T	.	.	.	-0.1395	0.29970	T	-0.20149	0.54505	T	0.0966436724191155	0.11983	T	0.786121	0.42437	T	.	.	.	.	.	.	.	.	-4.31	0.28316	T	.	.	0.193	0.41341	B	.;.;.;.	.;.;.;.	2.149581	0.27382	17.44	0.99374148452593392	0.61585	0.81426	0.40832	D	AEFBI	0.082493	0.16703	N	-0.310011733424603	0.28766	1.589473	-0.127377487881067	0.34290	1.970847	0.132434071256768	0.17117	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.16	3.31	0.37025	1.192000	0.31759	3.080000	0.36236	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1008:0.0:0.7446:0.1546	9.252	0.36720	129	0.94817	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	736.98	39	chr15	41762355	.	G	T	736.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.209;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=0.197;SOR=0.602	GT:AD:DP:GQ:PL	0/1:29,30:59:99:751,0,701	20	0	1	0
chr15	41818902	41818902	C	T	exonic	MAPKBP1	.	nonsynonymous SNV	MAPKBP1:NM_001265611:exon20:c.C2236T:p.R746W	Nephronophthisis 20, Autosomal recessive	.	431	1045	44	2	0	48	0.0224509	.	.	714428	Nephronophthisis_20|not_provided	MONDO:MONDO:0014997,MedGen:C4310640,OMIM:617271|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.021	B	0.01	B	0.048	N	0.663	N	0.345	N	1.22	T	-1.014	T	0.066	T	0.343	2.648	14.81	4.23	1.403	1.659	11.962	0.107	.	0.0005	0.00319489	0.0031	0.0003	0.0007	0.0002	0	0.0009	0.0055	0.0177	0.0026649	412	154602	rs61729964	0.0015	0.0015	0.0010	0.0020	0.0166	0.0015	0.0015	0.0159	0.0156	0.0001	0.0006	0.0001	0.0001	5.619e-05	0.0090	0.0005	0.0018	0.0166	0.0010	0.0010	0.0008	0.0012	0.0158	0.0009	0.0008	0.0129	0.0119	4.81e-05	0	0.0008	0	0	0	0.0068	0.0008	0.0009	0.0158	0.021	0.49117	D	0.077	0.45530	T	0.021	0.18474	B	0.01	0.14941	B	0.048196	0.23275	N	0.333669	0.663262	0.30430	N	1.5	0.37844	L	1.07	0.39586	T	-3.01	0.62518	D	0.403	0.46742	-1.0138	0.25720	T	0.066	0.27364	T	10	0.005826086	0.00130	T	.	.	.	0.107	0.30369	.	.	0.184605227958	0.18053	0.4446293006906201	0.44380	0.768764430126	0.64661	0.371921271086	0.21108	T	0.137811	0.47096	T	-0.454713	0.01059	T	-0.412966	0.31884	T	0.0387262621537389	0.03461	T	0.849515	0.53247	T	0.086063445	0.19991	0.094566636	0.22389	0.088173196	0.20559	0.08228859	0.18767	-8.594	0.65049	D	.	.	0.149	0.32898	B	.;.;.	.;.;.	2.994304	0.39986	21.1	0.99809025248273031	0.89264	0.96210	0.68040	D	AEFGBI	0.497589	0.53205	N	-0.545389096938561	0.20628	1.088857	-0.387247725204634	0.25376	1.395155	0.969351297903443	0.29122	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.14	4.23	0.49319	2.484000	0.44900	2.215000	0.31401	-0.190000	0.09434	1.000000	0.71638	1.000000	0.68203	0.247000	0.23184	0.0:0.919:0.0:0.081	11.962	0.52303	214	0.91692	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1993.98	35	chr15	41818902	.	C	T	1993.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.08;DP=952;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=0.200;SOR=0.673	GT:AD:DP:GQ:PL	0/1:116,85:201:99:2008,0,2641	20	0	1	0
chr15	42417393	42417393	G	C	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001381998:exon20:c.C3079G:p.L1027V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.743e-06	0.0001	0	5.513e-06	3.606e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.606e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	255.21	39	chr15	42417393	.	G	C,A	255.21	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=-3.444e+00;DP=1006;ExcessHet=0.1072;FS=168.945;InbreedingCoeff=-0.1270;MLEAC=1,1;MLEAF=0.031,0.031;MQ=60.00;MQRankSum=0.00;QD=1.89;ReadPosRankSum=-1.880e-01;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,18,0:83:99:0|1:42417393_G_C:175,0,1695,367,1747,2114:42417393	14	0	1	5
chr15	42417393	42417393	G	A	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001381998:exon20:c.C3079T:p.L1027F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.26e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs766932726	6.857e-07	1.368e-06	0	1.378e-06	9.015e-07	0	0	.	.	0	0	0	0	0	0	9.015e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	255.21	39	chr15	42417393	.	G	C,A	255.21	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=-3.444e+00;DP=1006;ExcessHet=0.1072;FS=168.945;InbreedingCoeff=-0.1270;MLEAC=1,1;MLEAF=0.031,0.031;MQ=60.00;MQRankSum=0.00;QD=1.89;ReadPosRankSum=-1.880e-01;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,18,0:83:99:0|1:42417393_G_C:175,0,1695,367,1747,2114:42417393	14	0	1	5
chr15	45263950	45263950	G	T	exonic	SLC28A2	.	nonsynonymous SNV	SLC28A2:NM_004212:exon6:c.G516T:p.E172D,	.	.	413	1089	20	0	0	20	0.00909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.165	B	0.115	B	0.000	D	1.000	D	1.87	L	4.66	T	-0.886	T	0.006	T	0.145	4.287	22.4	4.04	0.841	2.689	7.920	0.112	0.00895856816849	0.0042	0.00199681	0.0030	0.0009	0.0010	0	0.0017	0.0039	0	0.0043	0.0030724	475	154602	rs113624548	0.0037	0.0037	0.0037	0.0037	0.0047	0.0037	0.0036	0.0041	0.0041	0.0008	0.0009	3.827e-05	0	0.0016	0.0047	0.0042	0.0035	0.0041	0.0026	0.0026	0.0026	0.0025	0.0044	0.0023	0.0023	0.0039	0.0038	0.0008	0.0121	0.0009	0	0.0004	0.0012	0	0.0044	0.0024	0.0033	0.096	0.58626	T	0.109	0.57104	T	0.165	0.28508	B	0.115	0.31843	B	0.000025	0.55875	D	0.184484	0.999979	0.53665	D	2.53	0.73802	M	4.66	0.58029	T	-2.12	0.49018	N	0.349	0.39052	-0.8862	0.49257	T	0.006	0.01981	T	10	0.009833723	0.00221	T	0.008959	0.23607	T	0.112	0.31546	0.158	0.06178	0.68937278472	0.68670	0.4067162243965829	0.40587	0.0860025168769	0.09718	0.30266046524	0.10798	T	0.033661	0.23005	T	-0.452273	0.01095	T	-0.421619	0.30890	T	0.0228466091390399	0.01005	T	0.89491	0.63503	D	0.17332315	0.38074	0.15508768	0.36369	0.17332315	0.38074	0.15508768	0.36368	-8.327	0.63277	D	.	.	0.175	0.55631	B	.;.	.;.	2.861872	0.37813	20.6	0.99861045185208053	0.93911	0.90850	0.52379	D	AEFGBI	0.535409	0.55404	D	-0.00782973758745723	0.41500	2.483424	0.110874095308859	0.45104	2.779562	0.999976340995865	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.9	4.04	0.46262	2.857000	0.48048	2.404000	0.32608	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2466:0.0:0.7534:0.0	7.920	0.29000	607	0.67291	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1717.11	35	chr15	45263950	.	G	T	1717.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.04;DP=869;ExcessHet=0.1072;FS=4.184;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.26;ReadPosRankSum=0.153;SOR=1.012	GT:AD:DP:GQ:PL	0/1:59,41:100:99:978,0,1586	19	0	2	0
chr15	49367607	49367607	G	A	exonic	FAM227B	.	nonsynonymous SNV	FAM227B:NM_152647:exon13:c.C1112T:p.S371L,	.	.	448	1066	8	0	0	8	0.00373832	0.9765	0.864	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.42	M	.	.	-0.052	T	0.457	T	0.849	4.545	24.6	5.16	2.699	3.809	17.595	0.503	.	.	0.00179712	0.0022	9.841e-05	0.0006	0.0002	0	4.566e-05	0.0034	0.0152	0.001824	282	154602	rs200898126	0.0009	0.0010	0.0005	0.0013	0.0153	0.0008	0.0008	0.0146	0.0143	3.457e-05	0.0003	4.15e-05	5.595e-05	0	0.0011	5.402e-05	0.0007	0.0153	0.0004	0.0004	0.0002	0.0007	0.0118	0.0003	0.0003	0.0094	0.0085	2.407e-05	0	0.0001	0	0.0002	0	0	2.942e-05	0	0.0118	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000163	0.48594	D	0.000000	0.986868	0.40498	D	2.33	0.66821	M	.	.	.	-3.58	0.69118	D	0.787	0.78356	-0.0517	0.81170	T	0.457	0.78843	T	9	0.009779274	0.00220	T	.	.	.	0.503	0.78538	0.424	0.46857	0.185906805712	0.18197	0.4293047696005406	0.42847	0.185966617838	0.20903	0.41606926918	0.27295	T	0.216017	0.57806	T	-0.027462	0.47785	T	0.20075	0.83169	D	0.0990580898032136	0.12254	T	0.659534	0.26859	T	0.49715778	0.66927	0.43086883	0.66723	0.49715778	0.66928	0.43086883	0.66723	-2.429	0.05314	T	.	.	0.620	0.69682	P	.	.	4.355123	0.66921	25.0	0.99885858538852168	0.96126	0.90997	0.52660	D	AEFI	0.676142	0.64128	D	0.620921492295187	0.74499	6.143173	0.531288507135814	0.70108	5.456708	0.969142100567708	0.29106	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.16	5.16	0.70563	4.458000	0.59832	7.296000	0.58072	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.084000	0.17470	0.0:0.0:1.0:0.0	17.595	0.87907	409	0.82198	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1210.11	21	chr15	49367607	.	G	A	1210.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.20;DP=696;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=0.209;SOR=0.787	GT:AD:DP:GQ:PL	0/1:21,20:41:99:499,0,562	19	0	2	0
chr15	50997719	50997719	A	C	exonic	AP4E1	.	nonsynonymous SNV	AP4E1:NM_001252127:exon18:c.A2515C:p.I839L	Spastic paraplegia 51, autosomal recessive, Autosomal recessive;Stuttering, familial persistent, 1, Autosomal dominant	.	2	1516	4	0	0	4	0.00131752	.	.	1448429	Inborn_genetic_diseases|Spastic_paraplegia	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	0.327	N	1.000	N	0	N	2.38	T	-0.971	T	0.015	T	0.149	-1.465	0.019	1.22	0.779	-0.153	1.628	0.053	0.00327756052449	.	.	9.086e-05	0	0.0003	0	0	4.503e-05	0.0011	0.0002	7.12e-05	11	154602	rs755478140	4.378e-05	4.378e-05	3.812e-05	4.951e-05	0.0003	3.509e-05	3.193e-05	0.0002	0.0002	0	8.945e-05	0	0	0	0.0002	2.338e-05	0.0001	0.0003	4.599e-05	4.597e-05	5.138e-05	4.034e-05	0.0002	2.109e-05	1.527e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0.0005	0.0002	0.909	0.02489	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.326718	0.14181	N	0.708362	1	0.08975	N	-0.69	0.01958	N	2.38	0.15843	T	0.32	0.03955	N	0.137	0.14622	-0.9705	0.37094	T	0.015	0.06234	T	10	0.02783978	0.00924	T	0.003278	0.07268	T	0.053	0.14996	0.604	0.73586	0.128874641272	0.12493	0.0667812132132635	0.06616	0.101957349095	0.11540	0.299136519432	0.10272	T	0.031955	0.22272	T	-0.506145	0.00528	T	-0.67267	0.07437	T	0.0209976173785932	0.00800	T	0.339966	0.07337	T	0.057995927	0.11612	0.0266742	0.00770	0.057995927	0.11611	0.0266742	0.00770	-2.796	0.08435	T	.	.	0.064	0.01577	B	.;.	.;.	0.388294	0.07598	4.259	0.31949958919540061	0.01827	0.06285	0.12278	N	AEFBHCI	0.027342	0.02215	N	-1.01659517091712	0.08259	0.3866204	-0.951503549770072	0.10888	0.5513072	0.809032789162804	0.24322	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.2	1.22	0.20300	-0.144000	0.10263	-0.216000	0.10808	0.691000	0.84096	0.002000	0.15269	0.000000	0.08366	0.862000	0.40904	0.3768:0.3619:0.107:0.1543	1.628	0.02561	342	0.85871	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1856.98	36	chr15	50997719	.	A	C	1856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=888;ExcessHet=0.0000;FS=1.981;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=-2.124e+00;SOR=0.701	GT:AD:DP:GQ:PL	0/1:88,71:159:99:1871,0,2301	20	0	1	0
chr15	54014519	54014519	G	A	exonic	UNC13C	.	nonsynonymous SNV	UNC13C:NM_001080534:exon2:c.G1616A:p.S539N	.	.	423	1074	23	2	0	27	0.0124138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.012	B	0.007	B	.	.	1.000	D	0	N	-1.43	T	-0.718	T	0.220	T	0.039	0.625	7.362	5.01	2.608	5.017	6.904	0.287	.	.	0.0321486	0.0169	0.0002	0.0005	0.0026	0	6.02e-05	0.0135	0.1207	0.0147734	2284	154602	rs201904954	0.0071	0.0071	0.0039	0.0103	0.1116	0.0070	0.0069	0.1098	0.1090	0.0003	0.0002	0	0.0013	0	0.0066	9.354e-05	0.0083	0.1116	0.0042	0.0042	0.0024	0.0061	0.1236	0.0040	0.0038	0.1154	0.1121	0.0001	0	0.0008	0	0.0023	0	0.0034	7.353e-05	0.0052	0.1236	0.311	0.13971	T	1.0	0.01155	T	0.012	0.16265	B	0.007	0.12992	B	.	.	.	.	0.657326	0.33019	D	0.345	0.11182	N	-1.43	0.80730	T	0.26	0.04380	N	0.021	0.00339	-0.7184	0.59541	T	0.220	0.58279	T	9	0.0016723871	0.00020	T	.	.	.	0.287	0.60574	.	.	.	.	0.4083810185238867	0.40754	0.0401026956818	0.04292	0.537435829639	0.44083	T	0.062135	0.31838	T	-0.560659	0.00251	T	-0.481407	0.24297	T	0.0170661333447909	0.00453	T	0.644935	0.25655	T	0.08069248	0.18503	0.10918884	0.26311	0.08069248	0.18503	0.10918884	0.26311	-5.466	0.41549	T	.	.	0.074	0.09094	B	.;.	.;.	2.694065	0.35175	19.83	0.96017160999944662	0.28462	0.93261	0.57746	D	AEFI	0.609805	0.59887	D	-0.156615863301244	0.34953	2.001682	0.0783121737459946	0.43459	2.647272	0.0170367636193926	0.12904	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	5.01	0.66477	5.096000	0.64369	8.702000	0.78110	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1852:0.0:0.8148:0.0	6.904	0.23476	843	0.36859	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6933.11	36	chr15	54014519	.	G	A	6933.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.00;DP=1226;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=0.091;SOR=0.684	GT:AD:DP:GQ:PL	0/1:116,128:244:99:3388,0,2945	19	0	2	0
chr15	55829931	55829931	A	G	exonic	NEDD4	.	nonsynonymous SNV	NEDD4:NM_198400:exon22:c.T3710C:p.I1237T	.	.	432	1084	5	1	0	7	0.00321839	.	.	3219990	NEDD4-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.999	D	0.999	D	0.000	D	1.000	D	3.595	H	0.11	T	0.139	D	0.488	T	0.902	3.830	19.45	4.94	1.092	9.108	12.744	0.712	0.177741211027	7.7e-05	0.000798722	0.0005	0	0	0	0	6.261e-05	0	0.0031	0.0003752	58	154602	rs373718024	0.0002	0.0002	0.0001	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	0	0	0	0	0	0.0010	1.979e-05	0.0003	0.0029	0.0001	0.0001	0.0001	0.0001	0.0033	8.164e-05	6.721e-05	0.0021	0.0017	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0033	0.0	0.91255	D	0.0	0.92824	D	0.998	0.77913	D	0.999	0.92359	D	0.000002	0.62929	D	0.101224	1	0.81001	D	3.88	0.95983	H	0.11	0.61208	T	-4.33	0.76740	D	0.901	0.90932	0.139	0.84863	D	0.488	0.80501	T	10	0.122039765	0.23144	T	0.177741	0.85309	D	0.712	0.89741	.	.	0.713894570901	0.71138	0.8213456983268166	0.82091	0.349125871371	0.36770	0.701368331909	0.67341	T	0.348707	0.71666	T	0.0388972	0.56901	T	0.27817	0.87024	D	0.362562087447021	0.27509	T	0.887611	0.61581	D	0.78029686	0.82672	0.66188574	0.80185	0.78029686	0.82674	0.66188574	0.80186	-12.098	0.86777	D	.	.	0.533	0.70296	A	.;.;.;.	.;.;.;.	4.982863	0.82549	27.8	0.99849278155876164	0.92838	0.98506	0.83503	D	ALL	0.868365	0.78846	D	0.829380387876799	0.87903	9.382649	0.731707943471955	0.84783	8.390127	0.999999999990271	0.74766	0.706548	0.73137	0	0.68618	0.66647	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	6.08	4.94	0.64645	9.098000	0.93552	11.203000	0.89108	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8627:0.1373:0.0:0.0	12.744	0.56642	778	0.48011	.;HECT domain|HECT domain|HECT domain|HECT domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1209.98	35	chr15	55829931	.	A	G	1209.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.227;SOR=0.696	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1224,0,1160	20	0	1	0
chr15	64854950	64854950	G	C	exonic	PLEKHO2	.	nonsynonymous SNV	PLEKHO2:NM_001195059:exon2:c.G42C:p.E14D	.	.	432	1089	1	0	0	1	0.000458926	.	.	2322359	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.82	T	0.996	D	0.986	D	0.000	D	0.966	D	-0.05	N	-0.84	T	-0.727	T	0.258	T	0.593	2.458	14.18	1.36	0.491	0.512	7.867	0.352	0.0319791490594	0.0002	0.000199681	0.0003	0	0.0004	0	0	0.0004	0.0013	0.0003	0.0002135	33	154602	rs199594189	0.0002	0.0002	0.0002	0.0002	0.0026	0.0002	0.0002	0.0016	0.0013	8.964e-05	0.0002	0.0025	0	0	0.0026	0.0002	0.0005	0.0001	0.0001	0.0001	0.0001	0.0001	0.0002	9.14e-05	7.697e-05	0.0001	8.876e-05	0	0	0	0.0023	0	0	0	0.0002	0	0	0.242	0.17584	T	0.036	0.52060	D	0.996	0.68779	D	0.986	0.76916	D	0.000037	0.55875	D	0.120835	0.965618	0.38479	D	0.145	0.08828	N	-0.84	0.74265	T	0.74	0.06369	N	0.42	0.46086	-0.7267	0.59129	T	0.258	0.62811	T	10	0.041442096	0.02799	T	0.031979	0.53925	D	0.352	0.67326	0.373	0.38503	0.315609569513	0.31162	0.13294673724670694	0.13218	0.451173225812	0.44869	0.702414810658	0.67493	T	0.098242	0.40187	T	-0.201639	0.20570	T	-0.229858	0.51786	T	0.0870435512372045	0.10863	T	0.813219	0.46599	T	0.041133266	0.06001	0.055664565	0.09807	0.041133266	0.06000	0.055664565	0.09807	-3.78	0.40891	T	.	.	0.388	0.58884	A	.;.;.	.;.;.	3.507012	0.49089	22.7	0.99433254939750815	0.64374	0.69754	0.34314	D	AEFGBI	0.194723	0.32179	N	-0.0623559530038316	0.39052	2.296862	-0.0401646825330017	0.37920	2.226788	0.999885000626983	0.44867	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.04	1.36	0.21139	0.739000	0.25841	2.031000	0.30254	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.3561:0.0:0.6439:0.0	7.867	0.28706	195	0.92448	.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1151.98	33	chr15	64854950	.	G	C	1151.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.840e-01;DP=810;ExcessHet=0.0000;FS=7.236;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=0.395;SOR=1.023	GT:AD:DP:GQ:PL	0/1:65,49:114:99:1166,0,1626	20	0	1	0
chr15	66781000	66781000	C	T	exonic	SMAD6	.	nonsynonymous SNV	SMAD6:NM_005585:exon4:c.C956T:p.A319V,	Aortic valve disease 2, Autosomal dominant	YES	0	1508	14	0	0	14	0.00462046	.	.	400802	not_provided|Inborn_genetic_diseases|Aortic_valve_disease_2|SMAD6-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013902,MedGen:C3542024,OMIM:614823|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.18	T	0.846	P	0.297	B	0.000	D	1.000	D	1.39	L	-4.12	D	0.697	D	0.813	D	0.562	3.608	18.37	5.6	2.639	5.977	19.599	0.527	0.0767883996253	0.0003	0.000998403	0.0013	0.0004	0.0015	0	0	0.0012	0	0.0021	0.0003881	60	154602	rs148705603	0.0003	0.0003	0.0003	0.0003	0.0040	0.0003	0.0003	0.0028	0.0023	3.076e-05	0.0002	0	2.663e-05	0.0001	0.0040	0.0002	0.0005	0.0016	0.0002	0.0002	0.0003	0.0002	0.0023	0.0002	0.0002	0.0013	0.0010	2.405e-05	0	0.0001	0	0	0	0.0034	0.0003	0	0.0023	0.035	0.43708	D	0.075	0.42794	T	0.846	0.46778	P	0.297	0.40924	B	0.000043	0.53742	D	0.162323	0.999986	0.54805	D	1.25	0.31749	L	-4.2	0.96934	D	-1.21	0.30762	N	0.08	0.05542	0.697	0.93135	D	0.813	0.93694	D	10	0.014975667	0.00314	T	0.076788	0.72616	D	0.527	0.80007	.	.	0.899869699253	0.89888	0.3696680241509792	0.36880	0.287055191876	0.31101	0.611766695976	0.54566	T	0.352602	0.72001	T	-0.0999958	0.36426	T	0.064572	0.74549	D	0.0235789092115007	0.01093	T	0.859414	0.55137	D	0.13933204	0.32190	0.15219748	0.35819	0.13933204	0.32190	0.15219748	0.35819	-4.001	0.23819	T	0.16263586563156013	0.19990	0.182	0.39477	B	.	.	3.598537	0.50813	23.0	0.99710938985853192	0.81353	0.90917	0.52507	D	AEFGBCI	0.759812	0.69802	D	0.313917936354864	0.56863	3.85174	0.437907202079968	0.63944	4.638658	0.999999999997117	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	6.058000	0.70754	7.601000	0.61564	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	19.599	0.95546	424	0.81215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	716.98	33	chr15	66781000	.	C	T	716.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.143e+00;DP=649;ExcessHet=0.0000;FS=1.895;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.41;ReadPosRankSum=-5.880e-01;SOR=0.379	GT:AD:DP:GQ:PL	0/1:8,24:32:99:731,0,222	20	0	1	0
chr15	67465269	67465269	C	T	exonic	IQCH	.	nonsynonymous SNV	IQCH:NM_001322472:exon11:c.C1427T:p.T476I	.	.	429	1072	19	2	0	23	0.0106138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.001	B	0.002	B	0.061	N	1.000	N	0	N	0.9	T	-1.033	T	0.038	T	0.051	0.446	6.420	-10.1	-3.221	-3.394	1.579	0.020	.	0.0007	0.00499201	0.0035	0.0002	0.0004	0	0.0002	0.0006	0.0066	0.0221	0.0031047	480	154602	rs36067711	0.0018	0.0018	0.0011	0.0024	0.0220	0.0017	0.0017	0.0212	0.0209	0.0001	0.0006	0.0009	0	0.0001	0.0045	0.0004	0.0021	0.0220	0.0012	0.0012	0.0008	0.0017	0.0258	0.0011	0.0010	0.0221	0.0207	0.0002	0	0.0003	0.0003	0.0002	0	0.0136	0.0006	0.0019	0.0258	0.204	0.20607	T	0.194	0.28120	T	0.0	0.07471	B	0.002	0.06944	B	0.061213	0.02142	N	1.971120	1	0.08975	N	1.04	0.26193	L	0.89	0.45636	T	-1.48	0.36586	N	0.066	0.11197	-1.0332	0.19427	T	0.038	0.16290	T	10	0.0029875338	0.00049	T	.	.	.	0.020	0.03691	.	.	0.0138822411134	0.00435	0.23561869525893303	0.23476	0.108590475103	0.12248	0.276120305061	0.06957	T	0.046214	0.27356	T	-0.7134	0.00030	T	-0.780606	0.02435	T	0.0105919242418063	0.00148	T	0.467153	0.13745	T	0.028126314	0.02102	0.03579109	0.02898	0.028126314	0.02102	0.03579109	0.02898	-4.728	0.33742	T	.	.	0.099	0.19800	B	.;.;.	.;.;.	-1.750442	0.00175	0.003	0.81642553260835471	0.13787	0.01283	0.04476	N	AEFDGBI	0.040499	0.06034	N	-2.00195676999597	0.00210	0.008980746	-2.10308409786073	0.00184	0.008079054	0.999999999999998	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.05	-10.1	0.00330	-3.429000	0.00527	-5.629000	0.01650	-0.902000	0.02317	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1868:0.438:0.2202:0.155	1.579	0.02472	778	0.48011	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1343.98	34	chr15	67465269	.	C	T	1343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.128e+00;DP=868;ExcessHet=0.0000;FS=2.098;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.14;ReadPosRankSum=-8.590e-01;SOR=0.522	GT:AD:DP:GQ:PL	0/1:84,63:147:99:1358,0,2120	20	0	1	0
chr15	74070962	74070962	T	A	exonic	GOLGA6A	.	nonsynonymous SNV	GOLGA6A:NM_001038640:exon18:c.A2030T:p.N677I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.992	D	.	.	0.976	N	2.63	M	1.72	T	-1.021	T	0.153	T	0.347	2.324	13.73	1.62	1.007	4.577	7.306	0.112	0.00700416882332	.	.	.	.	.	.	.	.	.	.	.	.	.	rs554734828	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.571e-06	2.626e-05	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	0.976208	0.25388	N	3.505	0.92816	H	1.72	0.26588	T	-5.48	0.85692	D	0.372	0.41360	-1.0214	0.23259	T	0.153	0.48205	T	9	0.42459726	0.57089	T	0.007004	0.18541	T	0.112	0.31546	0.236	0.16608	0.192905019026	0.18896	0.26728134688869504	0.26641	3.3389385424	0.99635	0.691444575787	0.65914	T	0.220432	0.58372	T	-0.0700956	0.41310	T	-0.338464	0.40519	T	0.973400175571442	0.70079	D	0.859714	0.55187	D	0.5434677	0.69591	0.5021394	0.71220	0.5434677	0.69592	0.5021394	0.71220	-2.96	0.09757	T	.	.	0.144	0.31608	B	.	.	3.073444	0.41320	21.3	0.98371745034392233	0.40760	0.89977	0.50804	D	AEFI	0.455761	0.50791	N	0.196701080937815	0.51039	3.288592	-0.0385231778782328	0.37992	2.232017	3.03454332973231E-4	0.06454	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.62	1.62	0.22817	4.804000	0.62246	2.354000	0.32331	0.238000	0.18221	1.000000	0.71638	1.000000	0.68203	0.009000	0.08673	0.0:0.0:0.0:1.0	7.306	0.25624	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	880.98	39	chr15	74070962	.	T	A	880.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.122;DP=1090;ExcessHet=0.0000;FS=1.993;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.80;MQRankSum=-1.206e+00;QD=4.16;ReadPosRankSum=-6.620e-01;SOR=0.663	GT:AD:DP:GQ:PL	0/1:160,52:212:99:895,0,4039	20	0	1	0
chr15	74176033	74176033	G	A	exonic	ISLR	.	nonsynonymous SNV	ISLR:NM_005545:exon2:c.G1175A:p.R392H	.	.	395	1126	1	0	0	1	0.000443853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.923	P	0.132	B	0.195	U	1.000	N	0.695	N	-0.11	T	-0.973	T	0.110	T	0.151	2.180	13.24	3.49	2.047	1.673	11.320	0.108	0.0308653314733	0.0005	.	0.0002	0.0017	0	0	0	3.03e-05	0	0	0.0001294	20	154602	rs141231375	4.039e-05	4.173e-05	4.903e-05	3.166e-05	0.0014	3.181e-05	2.913e-05	0.0011	0.0009	0.0014	2.241e-05	0	0	0	0	6.298e-06	6.629e-05	1.161e-05	0.0004	0.0004	0.0004	0.0004	0.0016	0.0004	0.0003	0.0013	0.0012	0.0016	0	6.543e-05	0	0	0	0	1.47e-05	0	0	0.084	0.32929	T	0.161	0.31326	T	0.923	0.51194	P	0.132	0.33005	B	0.195000	0.16747	U	0.433164	1	0.08975	N	0.975	0.24501	L	-0.11	0.64445	T	-0.72	0.20358	N	0.193	0.21188	-0.9725	0.36670	T	0.110	0.39723	T	10	0.012585849	0.00270	T	0.030865	0.53083	D	0.108	0.30607	.	.	0.583395719892	0.58012	0.5904851158115079	0.58978	0.658102263844	0.58731	0.502789855003	0.39216	T	0.029554	0.21151	T	-0.467591	0.00880	T	-0.451223	0.27563	T	0.0189421891747743	0.00604	T	0.635836	0.24975	T	0.06101411	0.12586	0.051121756	0.08164	0.06101411	0.12585	0.051121756	0.08164	-4.299	0.28163	T	.	.	0.081	0.09433	B	.;.	.;.	3.537552	0.49663	22.8	0.99799430643510578	0.88461	0.31599	0.24378	N	AEFGBCI	0.191843	0.31903	N	-0.179340547580479	0.33995	1.935171	-0.163001961088481	0.32911	1.877155	0.999992527405045	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.514364	0.09456	0	0.542086	0.14980	0	.	.	4.48	3.49	0.39065	1.059000	0.30127	3.827000	0.39978	0.618000	0.50648	0.203000	0.24344	1.000000	0.68203	0.922000	0.45779	0.0:0.1839:0.8161:0.0	11.320	0.48651	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	931.98	42	chr15	74176033	.	G	A	931.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=909;ExcessHet=0.0000;FS=2.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.63;ReadPosRankSum=-1.016e+00;SOR=0.567	GT:AD:DP:GQ:PL	0/1:67,41:108:99:946,0,1550	20	0	1	0
chr15	74196047	74196047	C	G	exonic	STRA6	.	nonsynonymous SNV	STRA6:NM_001142617:exon5:c.G367C:p.A123P	Microphthalmia, isolated, with coloboma 8, Autosomal recessive;Microphthalmia, syndromic 9, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	465174	not_provided|Matthew-Wood_syndrome	MedGen:C3661900|MONDO:MONDO:0011010,MedGen:C1832661,OMIM:601186,Orphanet:2470	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.000	N	1.000	N	-1.4	N	-1.34	T	-1.006	T	0.057	T	0.134	-0.948	0.346	4.32	0.710	1.964	13.643	0.207	.	0.0088	0.0071885	0.0023	0.0253	0.0014	0	0	0	0.0011	0	0.0021474	332	154602	rs115067613	0.0007	0.0007	0.0008	0.0006	0.0259	0.0007	0.0007	0.0244	0.0239	0.0259	0.0012	0	0	0	0.0010	1.619e-05	0.0016	0	0.0073	0.0073	0.0075	0.0071	0.0257	0.0069	0.0068	0.0244	0.0239	0.0257	0	0.0020	0	0	0	0	1.47e-05	0.0066	0	1.0	0.45756	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.08700	B	0.000090	0.51296	N	0.174871	0.999777	0.20887	N	-2.135	0.00144	N	-1.34	0.79944	T	3.07	0.47683	N	0.093	0.23506	-1.0056	0.28277	T	0.057	0.24055	T	10	0.0035663843	0.00064	T	.	.	.	0.207	0.49555	.	.	0.608043754429	0.60489	0.536711980439182	0.53596	0.12054125509	0.13576	0.379435539246	0.22176	T	0.073055	0.34604	T	-0.460765	0.00973	T	-0.413684	0.31801	T	0.00663396941536365	0.00074	T	0.237376	0.05330	T	0.0884733	0.20639	0.2414208	0.49539	0.06755393	0.14640	0.19375591	0.42960	-2.892	0.10224	T	.	.	0.044	0.00069	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.035992	0.14163	10.74	0.62509378958511497	0.06981	0.02056	0.06139	N	AEFGBCI	0.072998	0.14586	N	-1.00065277765158	0.08590	0.4033621	-0.763840246326596	0.15382	0.8087466	0.999998234668927	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.24	4.32	0.50899	2.085000	0.41258	4.457000	0.43444	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0:0.2962:0.7038:0.0	13.643	0.61740	824	0.40336	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1487.98	34	chr15	74196047	.	C	G	1487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.653e+00;DP=892;ExcessHet=0.0000;FS=3.201;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=1.75;SOR=0.533	GT:AD:DP:GQ:PL	0/1:61,63:124:99:1502,0,1449	20	0	1	0
chr15	74197759	74197759	G	A	exonic	STRA6	.	nonsynonymous SNV	STRA6:NM_001142617:exon3:c.C173T:p.S58L	Microphthalmia, isolated, with coloboma 8, Autosomal recessive;Microphthalmia, syndromic 9, Autosomal recessive	.	1	1519	2	0	0	2	0.000657895	.	.	464537	not_provided|Matthew-Wood_syndrome	MedGen:C3661900|MONDO:MONDO:0011010,MedGen:C1832661,OMIM:601186,Orphanet:2470	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.37	T	0.013	B	0.009	B	0.167	N	1.000	N	0.345	N	-1.3	T	-1.008	T	0.096	T	0.391	1.794	11.96	2.31	0.485	1.067	5.802	0.143	.	0.0087	0.00738818	0.0023	0.0244	0.0014	0	0	0.0001	0.0012	6.097e-05	0.002141	331	154602	rs142105038	0.0008	0.0008	0.0009	0.0006	0.0250	0.0007	0.0007	0.0236	0.0230	0.0250	0.0012	0	0	0	0.0012	0.0001	0.0015	4.637e-05	0.0072	0.0072	0.0075	0.0069	0.0252	0.0069	0.0067	0.0239	0.0234	0.0252	0	0.0019	0	0	0	0	0.0001	0.0066	0	0.269	0.39575	T	0.467	0.12632	T	0.006	0.16609	B	0.004	0.14300	B	0.167019	0.17488	N	0.595751	1	0.08975	N	1.245	0.31408	L	-1.3	0.79571	T	-0.91	0.60827	N	0.176	0.20528	-1.0084	0.27416	T	0.096	0.36107	T	10	0.0072104335	0.00164	T	.	.	.	0.143	0.38195	.	.	0.576940836147	0.57363	0.34687949598454537	0.34601	0.0825373237616	0.09315	0.339429557323	0.16352	T	0.218547	0.58130	T	-0.344962	0.05052	T	-0.248019	0.50012	T	0.00998719984614951	0.00133	T	0.863014	0.57764	D	0.04185178	0.06241	0.05322925	0.08925	0.038201552	0.05044	0.054999106	0.09564	-2.61	0.10073	T	.	.	0.108	0.24633	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	1.812447	0.23033	15.86	0.98925758842580402	0.48639	0.01686	0.05377	N	AEFDGBI	0.104777	0.20955	N	-0.796522723177873	0.13400	0.659861	-0.7257180645199	0.16321	0.8628542	0.999996455668916	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.562822	0.20929	0	.	.	4.28	2.31	0.27816	1.245000	0.32393	1.801000	0.28882	0.618000	0.50648	0.002000	0.15269	0.001000	0.17328	0.979000	0.57723	0.2771:0.0:0.7229:0.0	5.802	0.17685	824	0.40336	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1478.98	34	chr15	74197759	.	G	A	1478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=861;ExcessHet=0.0000;FS=0.633;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=-1.490e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/1:75,61:136:99:1493,0,1703	20	0	1	0
chr15	74754996	74754996	G	A	exonic	CYP1A2	.	nonsynonymous SNV	CYP1A2:NM_000761:exon7:c.G1459A:p.V487M,	.	.	0	1519	3	0	0	3	0.000986518	.	.	754674	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.07	T	0.506	P	0.041	B	0.012	N	1.000	N	1.895	L	-0.41	T	-0.915	T	0.181	T	0.043	-0.047	3.775	1.31	0.088	-0.308	7.575	0.077	.	.	0.00479233	0.0027	0	0.0002	0	0	3.008e-05	0.0011	0.0198	0.0023868	369	154602	rs571663822	0.0012	0.0012	0.0007	0.0017	0.0186	0.0011	0.0011	0.0178	0.0175	8.961e-05	6.708e-05	0	0	0	0.0007	1.888e-05	0.0014	0.0186	0.0007	0.0007	0.0003	0.0011	0.0207	0.0006	0.0005	0.0174	0.0162	7.215e-05	0	0	0	0	0	0	2.94e-05	0	0.0207	0.069	0.35537	T	0.09	0.40267	T	.	.	.	.	.	.	0.012046	0.29308	N	0.361499	1	0.08975	N	2.855	0.82945	M	-0.41	0.69413	T	-0.34	0.12661	N	0.049	0.02088	-0.9153	0.46181	T	0.181	0.52843	T	10	0.00460881	0.00096	T	.	.	.	0.077	0.22490	0.494	0.58206	0.552005039658	0.54857	0.3410191909555812	0.34014	0.0702866836851	0.07872	0.276481091976	0.07007	T	0.228987	0.59468	T	-0.574818	0.00207	T	-0.582868	0.14290	T	0.0252767225722334	0.01308	T	0.748625	0.36937	T	0.155799	0.35193	0.15190803	0.35763	0.155799	0.35193	0.15190803	0.35762	-6.502	0.50302	T	.	.	0.121	0.25034	B	.	.	0.027741	0.04477	1.191	0.92976809135576788	0.22558	0.06804	0.12828	N	AEFBI	0.453854	0.50681	N	-0.888908208029228	0.11105	0.534163	-1.00092109679111	0.09765	0.4877495	0.0139551697504144	0.12533	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	4.39	1.31	0.20837	-0.201000	0.09466	-1.965000	0.04422	-0.258000	0.06954	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1487:0.2515:0.5997:0.0	7.575	0.27098	340	0.86005	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3064.98	35	chr15	74754996	.	G	A	3064.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=963;ExcessHet=0.0000;FS=0.985;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=1.11;SOR=0.618	GT:AD:DP:GQ:PL	0/1:124,117:241:99:3079,0,3001	20	0	1	0
chr15	75268848	75268848	C	T	exonic	GOLGA6C	.	nonsynonymous SNV	GOLGA6C:NM_001164404:exon14:c.C1553T:p.T518M,	.	.	478	1041	3	0	0	3	0.00143885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.01	B	0.002	B	.	.	1.000	N	-2.24	N	1.97	T	-0.962	T	0.011	T	0.134	-2.242	0.004	.	-0.000	0.890	5.818	0.021	0.00205986021916	.	.	0.0015	0.0099	0	0	0	0.0012	0	0	0.000461	12	26028	rs763563111	0.0028	0.0033	0.0031	0.0026	0.0438	0.0027	0.0027	0.0417	0.0409	0.0031	0.0438	0	0.0135	0	0.0006	0.0002	0.0035	0.0015	0.0046	0.0089	0.0043	0.0050	0.0328	0.0043	0.0041	0.0295	0.0282	0.0044	0	0.0328	0	0.0070	0	0	9.875e-05	0.0106	0.0017	0.239	0.17761	T	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-3.155	0.00009	N	1.97	0.22067	T	1.57	0.00677	N	0.061	0.03283	-0.9617	0.38858	T	0.011	0.03949	T	8	0.0045684576	0.00095	T	0.00206	0.03775	T	0.021	0.04004	0.274	0.22528	0.0138822411134	0.00435	0.17643580179217894	0.17562	1.71623382196	0.90501	0.560921132565	0.47399	T	0.002424	0.01816	T	-0.305667	0.08136	T	-0.676846	0.07177	T	0.00812584191375751	0.00097	T	0.19498	0.02126	T	0.018852912	0.00409	0.044147443	0.05655	0.018852912	0.00409	0.044147443	0.05655	-5.102	0.37929	T	.	.	0.063	0.01534	B	.	.	-0.316323	0.02547	0.307	0.84185768624106028	0.15146	0.01822	0.05664	N	AEFI	0.035930	0.04705	N	-1.53391093877469	0.01631	0.07131119	-1.54397286924548	0.02018	0.09220659	0.00241385320332672	0.09408	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	1.626000	0.36650	-0.023000	0.12899	-0.657000	0.04367	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.999:0.0:0.001	5.818	0.17765	509	0.75304	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.05263	392.76	18	chr15	75268848	.	C	T	392.76	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.912;DP=345;ExcessHet=0.1190;FS=2.866;InbreedingCoeff=-0.0617;MLEAC=2;MLEAF=0.053;MQ=35.20;MQRankSum=-1.645e+00;QD=8.73;ReadPosRankSum=-1.640e-01;SOR=1.193	GT:AD:DP:GQ:PL	0/1:23,17:40:99:368,0,531	17	0	2	2
chr15	75293124	75293124	C	T	exonic	GOLGA6D	.	nonsynonymous SNV	GOLGA6D:NM_001145224:exon14:c.C1553T:p.T518M,	.	.	.	.	.	.	.	.	.	.	.	2341959	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.21	T	0.005	B	0.004	B	.	.	1.000	N	-2.35	N	1.97	T	-0.972	T	0.008	T	0.075	-2.782	0	-3.02	-0.846	0.245	1.007	0.012	0.00174989255133	.	.	0.0017	0.0081	0	0	0	0	0	0	3.84e-05	1	26028	rs763893139	0.0004	0.0010	0.0004	0.0003	0.0091	0.0004	0.0004	0.0082	0.0078	0.0091	0.0029	0	0.0015	1.922e-05	0.0002	5.071e-05	0.0006	0.0002	0.0031	0.0059	0.0030	0.0032	0.0099	0.0029	0.0028	0.0091	0.0088	0.0099	0	0.0042	0	0.0020	0	0	8.841e-05	0.0010	0.0006	0.241	0.17643	T	1.0	0.01155	T	0.005	0.12996	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-2.4	0.00074	N	1.97	0.22067	T	1.57	0.00677	N	0.083	0.05929	-0.9724	0.36691	T	0.008	0.02968	T	9	0.005182147	0.00113	T	0.00175	0.02960	T	0.012	0.01476	0.251	0.18912	0.0138822411134	0.00435	0.16048240264229796	0.15969	2.01184860429	0.93918	0.384172588587	0.22846	T	0.001473	0.00925	T	-0.353844	0.04490	T	-0.746049	0.03642	T	0.015249334547864	0.00336	T	0.216778	0.02717	T	0.0115765985	0.00019	0.028756538	0.01142	0.0115765985	0.00019	0.028756538	0.01142	-5.118	0.38096	T	.	.	0.064	0.02370	B	.;.	.;.	-0.146406	0.03375	0.603	0.3780200863580378	0.02512	0.01011	0.03813	N	AEFI	0.044510	0.07171	N	-1.89357415348419	0.00354	0.01520222	-1.88707886673697	0.00519	0.02301646	0.00246096164508958	0.09445	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.56	-3.02	0.05116	0.809000	0.26827	0.004000	0.13336	-1.925000	0.00503	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2392:0.3993:0.1651:0.1964	1.007	0.01396	505	0.75648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	370.33	40	chr15	75293124	.	C	T	370.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.590e+00;DP=736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=36.37;MQRankSum=-5.620e-01;QD=5.97;ReadPosRankSum=0.625;SOR=0.722	GT:AD:DP:GQ:PL	0/1:41,21:62:99:384,0,1095	19	0	1	1
chr15	78105833	78105833	C	T	exonic	CIB2	.	nonsynonymous SNV	CIB2:NM_001271889:exon3:c.G301A:p.D101N	Deafness, autosomal recessive 48, Autosomal recessive;Usher syndrome, type IJ, Autosomal recessive	.	0	1504	18	0	0	18	0.00594845	.	.	194948	not_specified|CIB2-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.06	T	0.045	B	0.061	B	0.000	D	1.000	D	0.835	L	-0.77	T	-0.697	T	0.215	T	0.046	3.857	19.59	5.19	2.422	6.010	17.271	0.214	.	0.0030	0.00599042	0.0022	0.0096	0.0010	0	0	0.0003	0.0033	0.0081	0.0020698	320	154602	rs141932061	0.0010	0.0010	0.0008	0.0013	0.0092	0.0010	0.0010	0.0086	0.0084	0.0090	0.0009	0	0	0	0.0017	0.0002	0.0013	0.0092	0.0029	0.0029	0.0028	0.0030	0.0085	0.0027	0.0026	0.0078	0.0075	0.0085	0	0.0023	0	0	0	0	0.0003	0.0028	0.0068	0.079	0.33753	T	0.158	0.43531	T	0.021	0.18474	B	0.013	0.16460	B	0.000022	0.55875	D	0.118544	1	0.81001	D	0.645	0.16088	N	-0.77	0.73523	T	-1.73	0.50830	N	0.189	0.25130	-0.6967	0.60596	T	0.215	0.57613	T	10	0.009683847	0.00218	T	.	.	.	0.214	0.50650	.	.	0.818751176553	0.81703	0.3706232519565266	0.36976	0.212021421631	0.23700	0.567988991737	0.48393	T	0.233752	0.60062	T	-0.487015	0.00675	T	-0.464378	0.26123	T	0.0283049701846141	0.01732	T	0.659134	0.47426	T	0.31094852	0.53868	0.1480134	0.35005	0.20830348	0.43062	0.17063473	0.39187	-6.838	0.56153	T	0.16144605688934827	0.19766	0.081	0.19958	B	.;.;.;.	.;.;.;.	3.089465	0.41597	21.4	0.99794350769981488	0.88017	0.98263	0.81054	D	AEFDGBI	0.861763	0.77990	D	-0.0160398938398794	0.41130	2.454701	0.162493814721121	0.47808	3.005505	1.0	0.98316	0.833774	0.99917	0	0.68618	0.66647	0	0.0	0.00061	3	0.673998	0.66042	0	.	.	5.19	5.19	0.71428	6.092000	0.71061	1.701000	0.28132	0.549000	0.26987	1.000000	0.71638	0.913000	0.28170	0.922000	0.45779	0.0:1.0:0.0:0.0	17.271	0.86989	788	0.46569	EF-hand domain|EF-hand domain|EF-hand domain|EF-hand domain;.;.;EF-hand domain|EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4013.98	46	chr15	78105833	.	C	T	4013.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.180;DP=1408;ExcessHet=0.0000;FS=1.387;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=-7.240e-01;SOR=0.608	GT:AD:DP:GQ:PL	0/1:132,164:296:99:4028,0,2969	20	0	1	0
chr15	78601479	78601479	G	A	exonic	CHRNA3	.	nonsynonymous SNV	CHRNA3:NM_000743:exon5:c.C1163T:p.S388F	.	.	264	1247	11	0	0	11	0.00439122	.	.	2125509	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.64	P	0.361	B	0.531	N	0.758	N	1.825	L	-2.03	D	-0.419	T	0.535	D	0.471	0.791	8.166	4.14	0.876	1.732	5.002	0.054	0.146571546547	7.7e-05	0.000199681	0.0005	0	0	0.0001	0	0.0002	0	0.0025	0.0003752	58	154602	rs71581734	0.0002	0.0002	0.0002	0.0003	0.0040	0.0002	0.0002	0.0027	0.0023	0	0.0002	7.652e-05	2.519e-05	0	0.0040	5.935e-05	0.0004	0.0024	0.0001	0.0001	7.712e-05	0.0002	0.0015	8.167e-05	6.724e-05	0.0007	0.0005	2.408e-05	0	0	0	0	0	0.0102	0.0001	0	0.0015	0.07	0.35726	T	0.047	0.60337	D	0.169	0.40395	B	0.123	0.43233	B	0.531325	0.05259	N	1.267660	0.758474	0.29564	N	2.19	0.61577	M	-2.03	0.85613	D	-0.74	0.27052	N	0.332	0.38438	-0.4189	0.71428	T	0.535	0.82810	D	10	0.024365157	0.00667	T	0.146572	0.82867	D	0.427	0.73445	.	.	0.90122744111	0.90024	0.41549495590418367	0.41465	0.501316882173	0.48519	0.310398757458	0.11967	T	0.45943	0.79701	T	-0.26782	0.12002	T	-0.162096	0.58163	T	0.0301175776064321	0.02007	T	0.637136	0.25071	T	0.041916426	0.06261	0.056959487	0.10272	0.041916426	0.06261	0.056959487	0.10271	-4.395	0.29489	T	.	.	0.104	0.24934	B	.;.	.;.	1.927298	0.24478	16.41	0.96269284575240455	0.29244	0.81016	0.40512	D	AEFDGBI	0.187170	0.31446	N	-0.27438276257852	0.30141	1.677881	-0.23068510950844	0.30444	1.714102	0.0912276211917781	0.16129	0.660377	0.49826	0	0.601575	0.49859	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	6.02	4.14	0.47821	1.644000	0.36844	6.584000	0.56006	-0.132000	0.13132	0.961000	0.33663	1.000000	0.68203	0.064000	0.16252	0.1243:0.1211:0.6292:0.1255	5.002	0.13615	778	0.48011	.;Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2440.98	37	chr15	78601479	.	G	A	2440.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.90;DP=877;ExcessHet=0.0000;FS=3.307;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=0.531;SOR=0.628	GT:AD:DP:GQ:PL	0/1:109,83:192:99:2455,0,3104	20	0	1	0
chr15	78763984	78763984	G	A	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon21:c.C4535T:p.A1512V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.458	P	0.073	B	0.533	N	1.000	N	0.895	L	0.14	T	-1.103	T	0.025	T	0.069	-0.020	3.914	0.991	0.287	0.696	4.499	0.021	.	0.0074	0.00738818	0.0067	0.0358	0.0021	0	0	0.0001	0.0091	0.0035	0.0016817	260	154602	rs75987215	0.0009	0.0009	0.0009	0.0008	0.0237	0.0008	0.0008	0.0223	0.0217	0.0237	0.0008	0.0002	2.698e-05	0	0.0040	0.0001	0.0019	0.0020	0.0068	0.0068	0.0070	0.0065	0.0231	0.0064	0.0063	0.0219	0.0214	0.0231	0	0.0022	0	0	0	0	0.0003	0.0043	0.0017	0.323	0.13436	T	0.337	0.18178	T	0.458	0.36312	P	0.073	0.28123	B	0.533001	0.11618	N	0.764757	1	0.08975	N	0.445	0.12748	N	0.14	0.60854	T	-1.09	0.28290	N	0.097	0.07811	-1.1028	0.03768	T	0.025	0.10733	T	10	0.0021345317	0.00031	T	.	.	.	0.021	0.04004	.	.	0.188950314367	0.18478	0.11078912902420956	0.11007	0.229209058529	0.25482	0.52655673027	0.42549	T	0.006541	0.05971	T	-0.581715	0.00188	T	-0.590784	0.13597	T	0.00133222131906342	0.00013	T	0.142486	0.01158	T	0.01902171	0.00427	0.024703963	0.00495	0.01902171	0.00427	0.024703963	0.00495	-5.314	0.40081	T	.	.	0.079	0.07224	B	.	.	1.173294	0.15632	11.99	0.94837349463796161	0.25623	0.05083	0.10879	N	AEFDBI	0.082971	0.16805	N	-0.979009348728995	0.09052	0.4268728	-1.04478461758678	0.08815	0.4353296	0.998600803723963	0.37289	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.699875	0.68795	0	.	.	4.42	0.991	0.18931	0.433000	0.21196	0.089000	0.14491	0.509000	0.23192	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.088:0.1342:0.5361:0.2417	4.499	0.11264	503	0.75780	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	613.33	31	chr15	78763984	.	G	A	613.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.310e-01;DP=521;ExcessHet=0.0000;FS=3.256;InbreedingCoeff=-0.0371;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=19.78;ReadPosRankSum=-7.710e-01;SOR=0.260	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,16:31:99:0|1:78763984_G_A:627,0,551:78763984	19	0	1	1
chr15	78765968	78765968	G	A	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon19:c.C3943T:p.P1315S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87	T	0.051	B	0.01	B	0.341	N	1.000	N	0.55	N	0.32	T	-1.042	T	0.071	T	0.121	0.201	5.081	-0.699	0.171	0.806	1.817	0.035	.	0.0014	.	0.0011	0.0134	0	0.0004	0	0	0.0019	9.096e-05	3.84e-05	1	26028	rs371861563	0.0004	0.0004	0.0005	0.0003	0.0138	0.0004	0.0003	0.0127	0.0123	0.0138	0.0004	0	8.61e-05	0	0.0010	9.038e-06	0.0010	4.687e-05	0.0036	0.0039	0.0037	0.0034	0.0122	0.0033	0.0032	0.0113	0.0110	0.0122	0	0.0014	0	0	0	0	7.355e-05	0.0034	0	0.169	0.22920	T	0.282	0.21545	T	0.051	0.22415	B	0.01	0.14941	B	0.341263	0.13959	N	0.582086	1	0.08975	N	1.795	0.47270	L	0.32	0.58468	T	-2.03	0.46673	N	0.09	0.06854	-1.0417	0.16800	T	0.071	0.28839	T	10	0.0030497313	0.00050	T	.	.	.	0.035	0.08770	.	.	0.12205267543	0.11705	0.29213780244531157	0.29126	0.547174046333	0.51685	0.363506197929	0.19895	T	0.014327	0.12216	T	-0.193208	0.21789	T	-0.515306	0.20772	T	0.0106588920872071	0.00150	T	0.566043	0.20025	T	0.052388974	0.09765	0.07022949	0.14896	0.052388974	0.09764	0.07022949	0.14895	-3.916	0.22542	T	.	.	0.073	0.04517	B	.	.	1.426400	0.18442	13.74	0.36514630999123276	0.02353	0.03716	0.09003	N	AEFGBI	0.056962	0.10572	N	-1.16752523458168	0.05497	0.2507697	-1.19177951379264	0.06046	0.2898677	0.889692412655487	0.25819	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.15	-0.699	0.10709	0.701000	0.25293	1.193000	0.24780	0.509000	0.23192	0.002000	0.15269	0.208000	0.23622	0.039000	0.14166	0.2085:0.1575:0.4735:0.1605	1.817	0.02914	499	0.76092	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	393.98	25	chr15	78765968	.	G	A	393.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.22;DP=841;ExcessHet=0.0000;FS=6.180;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.96;MQRankSum=2.08;QD=8.95;ReadPosRankSum=0.257;SOR=1.981	GT:AD:DP:GQ:PL	0/1:32,12:44:99:408,0,1285	20	0	1	0
chr15	78766186	78766186	G	A	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon19:c.C3725T:p.P1242L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.501	P	0.058	B	0.328	N	1.000	N	0.805	L	0.33	T	-1.043	T	0.046	T	0.058	2.445	14.14	2.82	0.661	1.417	8.447	0.057	.	0.0047	0.00399361	0.0015	0.0142	0.0003	0	0	9.471e-05	0.0012	0.0018	0.0013583	210	154602	rs75280199	0.0006	0.0006	0.0006	0.0006	0.0145	0.0006	0.0006	0.0134	0.0130	0.0145	0.0005	0.0002	0	0	0.0042	8.634e-05	0.0013	0.0020	0.0042	0.0042	0.0043	0.0041	0.0141	0.0039	0.0038	0.0132	0.0128	0.0141	0	0.0014	0	0	0	0	0.0002	0.0033	0.0017	0.008	0.58626	D	0.036	0.52060	D	0.501	0.37169	P	0.058	0.26451	B	0.328209	0.04115	N	1.422080	1	0.08975	N	1.525	0.38595	L	0.33	0.58323	T	-2.52	0.54702	D	0.104	0.08786	-1.0426	0.16532	T	0.046	0.19640	T	10	0.0032488406	0.00055	T	.	.	.	0.057	0.16321	.	.	0.225902525712	0.22197	0.2688655116092162	0.26799	0.164542048542	0.18567	0.313453942537	0.12429	T	0.019422	0.15476	T	-0.561453	0.00249	T	-0.567589	0.15671	T	0.0151519719508241	0.00330	T	0.524548	0.17205	T	0.062037773	0.12913	0.061227426	0.11790	0.062037773	0.12912	0.061227426	0.11789	-4.181	0.26476	T	.	.	0.072	0.04356	B	.	.	1.788796	0.22740	15.74	0.981295945556241	0.38506	0.06949	0.12975	N	AEFBI	0.070054	0.13892	N	-0.682071510566079	0.16533	0.8431679	-0.724483505882277	0.16352	0.8646159	0.992707382318904	0.32938	0.743674	0.98306	0	0.588066	0.40923	0	0.630245	0.45026	0	0.562822	0.20929	0	.	.	3.75	2.82	0.32061	0.467000	0.21747	3.058000	0.36148	0.509000	0.23192	0.000000	0.06391	0.257000	0.23957	0.021000	0.11733	0.1163:0.0:0.8837:0.0	8.447	0.32008	499	0.76092	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1086.98	52	chr15	78766186	.	G	A	1086.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.070e-01;DP=1290;ExcessHet=0.0000;FS=3.758;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.75;ReadPosRankSum=0.400;SOR=0.305	GT:AD:DP:GQ:PL	0/1:25,44:69:99:1101,0,619	20	0	1	0
chr15	78768226	78768226	C	T	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon17:c.G2552A:p.R851Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.034	B	0.015	B	0.569	N	1.000	N	0.63	N	0.68	T	-1.083	T	0.026	T	0.018	1.324	10.34	-9.34	-2.163	-1.012	15.261	0.093	.	0.0058	0.00419329	0.0016	0.0145	0.0004	0	0	0.0002	0.0013	0.0022	0.0013907	215	154602	rs76539006	0.0007	0.0007	0.0007	0.0007	0.0144	0.0007	0.0006	0.0133	0.0129	0.0144	0.0005	0.0002	0	0	0.0041	0.0002	0.0014	0.0020	0.0042	0.0042	0.0044	0.0041	0.0141	0.0040	0.0039	0.0132	0.0128	0.0141	0	0.0014	0	0	0	0	0.0003	0.0033	0.0019	0.175	0.22400	T	0.118	0.36233	T	0.034	0.20480	B	0.015	0.17295	B	0.568646	0.11261	N	0.764030	1	0.08975	N	1.05	0.26816	L	0.68	0.51952	T	-1.2	0.30555	N	0.124	0.11626	-1.0833	0.06720	T	0.026	0.11309	T	10	0.0033400953	0.00058	T	.	.	.	0.093	0.26882	.	.	0.261217442401	0.25729	0.16482537378099146	0.16402	0.194208701575	0.21755	0.334912896156	0.15674	T	0.007525	0.06930	T	-0.688373	0.00043	T	-0.7499	0.03489	T	0.00561016055144118	0.00061	T	0.534647	0.17878	T	0.024297126	0.01248	0.04423087	0.05683	0.024297126	0.01247	0.04423087	0.05683	-5.958	0.45926	T	.	.	0.062	0.01271	B	.	.	0.067616	0.04768	1.387	0.93710230648541948	0.23627	0.00431	0.02113	N	AEFBI	0.043629	0.06919	N	-1.65791353338969	0.01002	0.04344159	-1.77951489123449	0.00827	0.03693191	0.999990664711946	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.26897	0.05253	2	0.613276	0.41899	0	.	.	4.67	-9.34	0.00539	-0.945000	0.04019	-5.610000	0.01657	-2.236000	0.00342	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.5855:0.0:0.4145	15.261	0.73323	495	0.76383	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1431.98	36	chr15	78768226	.	C	T	1431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=1.59;SOR=0.761	GT:AD:DP:GQ:PL	0/1:62,62:124:99:1446,0,1405	20	0	1	0
chr15	82892693	82892693	C	T	exonic	HOMER2	.	nonsynonymous SNV	HOMER2:NM_004839:exon2:c.G154A:p.G52R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.81	M	-5.06	D	1.095	D	0.973	D	0.846	5.168	32	5.43	2.541	7.732	18.242	0.936	0.759120803693	.	.	8.542e-06	0	0	0	0	1.52e-05	0	0	6.5e-06	1	154602	rs774130600	4.956e-06	8.893e-06	5.604e-06	4.294e-06	6.096e-05	2.06e-06	1.33e-06	1.01e-05	3.78e-06	6.096e-05	0	0	0	0	0	4.641e-06	0	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.414e-05	2.19e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	-5.06	0.98629	D	-7.64	0.95870	D	0.916	0.93018	1.095	0.99452	D	0.973	0.99165	D	10	0.954324	0.94784	D	0.759121	0.98086	D	0.936	0.98563	0.746	0.87738	0.98573010217	0.98556	0.598306292208737	0.59761	0.865874355616	0.69202	0.901028990746	0.96554	D	0.983367	0.99882	D	0.371057	0.88125	D	0.477368	0.94160	D	0.998546361923218	0.94448	D	0.996	0.98622	D	0.89907086	0.91299	0.8638088	0.92440	0.89907086	0.91300	0.8638088	0.92440	-11.658	0.83848	D	.	.	0.940	0.87181	P	.;.	.;.	6.386477	0.95125	34	0.99935534720338304	0.99579	0.92347	0.55502	D	AEFDGBHCI	0.939586	0.94038	D	0.892058920136824	0.91366	10.84698	0.846092503602245	0.92786	11.63083	0.999999999999699	0.74766	0.617157	0.39670	1	0.610034	0.51514	0	0.786243	0.99158	0	0.620846	0.47308	0	.	.	5.43	5.43	0.79006	7.842000	0.85116	7.551000	0.60274	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	18.242	0.89909	484	0.77165	.;WH1/EVH1 domain|WH1/EVH1 domain|WH1/EVH1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2562.98	36	chr15	82892693	.	C	T	2562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.37;DP=872;ExcessHet=0.0000;FS=1.894;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.56;ReadPosRankSum=-4.160e-01;SOR=0.857	GT:AD:DP:GQ:PL	0/1:77,99:176:99:2577,0,1658	20	0	1	0
chr15	84239998	84239998	-	ACGTGAACAGGAGGAGAGGCA	exonic	GOLGA6L4	.	nonframeshift insertion	GOLGA6L4:NM_001267536:exon6:c.644_645insACGTGAACAGGAGGAGAGGCA:p.E219_D220insERQREQE,	.	.	985	495	13	25	4	67	0.0598291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	.	0	1.29e-05	2	154602	rs779561802	0.0105	0.0058	0.0101	0.0109	0.2682	0.0102	0.0101	0.2596	0.2561	0.0231	0.0037	0.0223	0.2682	0.0079	0.0042	0.0006	0.0141	0.0199	0.0008	0.0050	0.0003	0.0013	0.0208	0.0004	0.0003	0.0027	0.0017	0.0068	0	0	0	0	0	0	0.0001	0.0143	0.0208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3522.01	6	chr15	84239998	.	T	A,TACGTGAACAGGAGGAGAGGCA	3522.01	.	AC=6,3;AF=0.250,0.125;AN=24;BaseQRankSum=-1.282e+00;DP=208;ExcessHet=0.0000;FS=1.808;InbreedingCoeff=0.6093;MLEAC=9,5;MLEAF=0.375,0.208;MQ=41.82;MQRankSum=2.07;QD=30.81;ReadPosRankSum=0.425;SOR=0.357	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:2,11,2:15:59:.:.:1590,135,59,332,0,460	7	2	1	9
chr15	84512452	84512452	C	0	exonic	GOLGA6L4	.	.	.	.	.	671	744	60	0	47	107	0.0387597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	4524.06	139	chr15	84512452	.	C	T,*	4524.06	.	AC=5,8;AF=0.119,0.190;AN=42;BaseQRankSum=-4.670e-01;DP=3555;ExcessHet=11.8493;FS=1.281;InbreedingCoeff=-0.4584;MLEAC=5,8;MLEAF=0.119,0.190;MQ=45.57;MQRankSum=1.25;QD=1.92;ReadPosRankSum=0.576;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:155,0,44:206:99:.:.:1040,1469,7572,0,5594,5425	8	0	5	0
chr15	85580602	85580602	T	G	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.T2534G:p.V845G	.	.	432	110	446	510	24	1490	0.869514	.	.	2814437	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.0	B	0.002	B	.	.	1.000	P	0.345	N	2.55	T	-0.957	T	0.017	T	0.404	1.720	11.71	0.070	-0.113	-1.248	6.569	0.179	0.00506693407359	.	0.000599042	0.0032	0.0007	0.0032	0	0.0002	0.0039	0.0088	0.0048	0.0001153	3	26028	rs4075256	0.0025	0.0025	0.0024	0.0027	0.0151	0.0025	0.0024	0.0125	0.0116	0.0004	0.0025	0.0292	2.519e-05	0.0001	0.0151	0.0018	0.0045	0.0047	0.0023	0.0023	0.0022	0.0024	0.0048	0.0021	0.0020	0.0033	0.0028	0.0003	0	0.0016	0.0297	0	9.45e-05	0.0171	0.0025	0.0038	0.0048	0.423	0.10659	T	0.027	0.63918	D	0.0	0.02946	B	0.001	0.06944	B	.	.	.	.	1	0.08975	P	1.245	0.31408	L	2.55	0.13795	T	-1.02	0.26843	N	0.078	0.06720	-0.9574	0.39662	T	0.017	0.06998	T	8	0.0039428473	0.00076	T	0.005067	0.12846	T	0.179	0.44899	.	.	0.422182357427	0.41838	0.1432355315383818	0.14246	0.0440664064185	0.04745	0.228416800499	0.01853	T	0.010925	0.27888	T	-0.552168	0.00283	T	-0.564974	0.15912	T	0.00203509816072437	0.00021	T	0.324768	0.06643	T	0.1311308	0.30576	0.06462619	0.12981	0.1311308	0.30576	0.06462619	0.12981	-3.647	0.18539	T	.	.	0.065	0.06069	B	.;.;.	.;.;.	0.426331	0.07970	4.681	0.95987591324156307	0.28377	0.04720	0.10414	N	AEFDBHCI	.	.	.	-1.3770577569871	0.02854	0.1266311	-1.35682337870166	0.03726	0.1743996	0.999998904741782	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.678554	0.66404	0	.	.	5.68	0.070	0.13688	-1.139000	0.03324	-0.569000	0.08436	-0.832000	0.02862	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4775:0.1299:0.3926	6.569	0.21723	714	0.56256	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.7619	59865.85	115	chr15	85580602	.	T	C,G	59865.85	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=1.83;DP=2553;ExcessHet=4.7172;FS=0.631;InbreedingCoeff=-0.2727;MLEAC=32,1;MLEAF=0.762,0.024;MQ=60.00;MQRankSum=0.00;QD=23.83;ReadPosRankSum=0.419;SOR=0.578	GT:AD:DP:GQ:PL	0/1:91,61,0:152:99:1616,0,2426,1888,2609,4498	0	11	9	0
chr15	86279695	86279695	A	G	exonic	AGBL1	.	nonsynonymous SNV	AGBL1:NM_152336:exon16:c.A2132G:p.Y711C,	Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	0.000	D	0.999	D	3.285	M	2.59	T	-0.833	T	0.077	T	0.455	3.330	17.21	5.3	2.230	5.608	14.579	0.285	.	0.0052	0.0129792	0.0059	0.0171	0.0007	0.0276	0.0067	0.0009	0.0089	0.0117	0.0054786	847	154602	rs117184817	0.0025	0.0025	0.0023	0.0027	0.0260	0.0024	0.0024	0.0247	0.0241	0.0145	0.0006	0.0003	0.0260	0.0069	0.0014	0.0003	0.0058	0.0124	0.0063	0.0063	0.0060	0.0066	0.0240	0.0059	0.0058	0.0206	0.0193	0.0140	0	0.0035	0.0003	0.0240	0.0079	0	0.0006	0.0071	0.0121	.	.	.	.	.	.	1.0	0.90584	D	0.991	0.79672	D	0.000485	0.43931	D	0.156508	0.998598	0.45136	D	3.525	0.93020	H	.	.	.	.	.	.	.	.	-0.8327	0.53127	T	0.077	0.30767	T	10	0.009247124	0.00209	T	.	.	.	0.285	0.60338	.	.	0.334161072951	0.33023	0.6964127942494804	0.69582	0.0634574563292	0.07066	0.657508134842	0.61052	T	0.312259	0.68408	T	-0.408559	0.02032	T	-0.339371	0.40416	T	0.0513057525206132	0.05727	T	0.964104	0.86689	D	0.09889234	0.23330	0.15425266	0.36212	0.12693878	0.29719	0.15425266	0.36211	.	.	.	.	.	0.27	0.50417	B	.;.	.;.	4.624555	0.73463	26.0	0.9978628227455989	0.87219	0.95969	0.66943	D	AEFI	0.752142	0.69273	D	0.692809016155209	0.79161	7.019662	0.566726442581114	0.72569	5.830529	0.862163085737804	0.25247	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.3	5.3	0.74745	5.862000	0.69313	11.254000	0.90845	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.853000	0.40368	1.0:0.0:0.0:0.0	14.579	0.67871	518	0.74548	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2008.98	36	chr15	86279695	.	A	G	2008.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.540e-01;DP=897;ExcessHet=0.0000;FS=4.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=-1.849e+00;SOR=0.832	GT:AD:DP:GQ:PL	0/1:112,88:200:99:2023,0,2826	20	0	1	0
chr15	88630167	88630167	G	A	exonic	AEN	.	nonsynonymous SNV	AEN:NM_022767:exon4:c.G851A:p.C284Y,	.	.	415	1059	46	2	0	50	0.0230627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.042	B	0.037	B	.	.	1.000	N	0.345	N	2.27	T	-0.980	T	0.012	T	0.103	-0.508	1.677	-10.7	-2.304	-1.748	10.604	0.016	.	0.0057	0.00778754	0.0096	0.0011	0.0056	0	0.0060	0.0086	0.0121	0.0278	0.0083569	1292	154602	rs118097475	0.0084	0.0084	0.0078	0.0091	0.0266	0.0083	0.0083	0.0257	0.0253	0.0011	0.0057	0.0088	2.519e-05	0.0064	0.0101	0.0078	0.0072	0.0266	0.0069	0.0069	0.0070	0.0069	0.0249	0.0066	0.0064	0.0213	0.0199	0.0011	0.0165	0.0107	0.0081	0	0.0067	0.0102	0.0087	0.0095	0.0249	0.831	0.02876	T	1.0	0.01155	T	0.014	0.16867	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	2.27	0.17431	T	-0.1	0.08495	N	0.074	0.04790	-0.9803	0.34932	T	0.012	0.04605	T	9	0.002837807	0.00045	T	.	.	.	0.016	0.02506	.	.	0.0482279557977	0.04254	0.29859636252446525	0.29772	0.150128431297	0.16938	0.263610422611	0.05328	T	0.027685	0.20221	T	-0.692297	0.00041	T	-0.746263	0.03633	T	0.00270222386677056	0.00028	T	0.461754	0.13398	T	0.08648601	0.20104	0.081791975	0.18616	0.08648601	0.20104	0.081791975	0.18616	-5.119	0.38107	T	.	.	0.069	0.03231	B	.	.	-1.185169	0.00546	0.013	0.65711679914311028	0.07850	0.08236	0.14191	N	AEFGBCI	0.051128	0.09002	N	-1.79489216728866	0.00558	0.02402399	-1.89809837427172	0.00494	0.0218834	0.999999999999766	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.37	-10.7	0.00191	-1.813000	0.01819	-2.601000	0.03561	-0.798000	0.03190	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2179:0.3231:0.459:0.0	10.604	0.44574	919	0.19497	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2586.98	36	chr15	88630167	.	G	A	2586.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.659;DP=969;ExcessHet=0.0000;FS=1.815;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.575;SOR=0.622	GT:AD:DP:GQ:PL	0/1:81,106:187:99:2601,0,1754	20	0	1	0
chr15	89629527	89629527	G	A	exonic	KIF7	.	nonsynonymous SNV	KIF7:NM_198525:exon17:c.C3365T:p.S1122L,	Acrocallosal syndrome, Autosomal recessive;Joubert syndrome 12, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1487616	Acrocallosal_syndrome	MONDO:MONDO:0008708,MedGen:C0796147,OMIM:200990,Orphanet:36	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.998	D	0.915	D	0.000	D	1.000	D	1.04	L	-0.49	T	-0.284	T	0.399	T	0.385	5.040	29.8	5.06	2.635	7.292	18.612	0.357	0.0845850513027	.	.	2.482e-05	9.662e-05	0	0.0002	0	0	0	0	1.94e-05	3	154602	rs202195179	2.743e-05	2.805e-05	2.594e-05	2.894e-05	0.0005	2.068e-05	1.82e-05	0.0003	0.0003	5.974e-05	0	0	0.0005	0	0	1.169e-05	1.657e-05	5.797e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	6.823e-05	2.855e-05	0	0	0	0	0.0004	0	0	0	0	0	0.013	0.53900	D	0.104	0.38160	T	0.996	0.68779	D	0.713	0.54588	P	0.000002	0.62929	D	0.059696	0.999997	0.58761	D	1.39	0.34934	L	-0.49	0.70365	T	-3.79	0.71639	D	0.519	0.54932	-0.2840	0.75431	T	0.399	0.75095	T	10	0.40828168	0.56046	T	0.084585	0.74358	D	0.357	0.67782	0.252	0.19067	0.877530423997	0.87633	0.17727664738547408	0.17646	0.139392655001	0.15712	0.61435854435	0.54931	T	0.273902	0.64637	T	-0.176116	0.24316	T	-0.198606	0.54779	T	0.8081294298172	0.46915	D	0.935906	0.76011	D	0.52987003	0.68823	0.38650832	0.63542	0.52987003	0.68824	0.38650832	0.63542	-11.359	0.81590	D	0.6062056579529129	0.67350	0.097	0.15654	B	.	.	4.823947	0.78594	26.9	0.99919470787117615	0.98654	0.98292	0.81328	D	AEFDGBCI	0.843716	0.76072	D	0.586554503509677	0.72336	5.789512	0.620709777671684	0.76445	6.492449	0.999999999999974	0.74766	0.631515	0.41029	0	0.577304	0.33150	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.06	5.06	0.67838	7.618000	0.82239	9.811000	0.81748	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.612	0.91242	850	0.35610	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2545.98	35	chr15	89629527	.	G	A	2545.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.79;DP=929;ExcessHet=0.0000;FS=0.493;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=0.891;SOR=0.764	GT:AD:DP:GQ:PL	0/1:120,104:224:99:2560,0,2575	20	0	1	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	.	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	31349.59	49	chr15	89776903	.	AGGGCAGGGGCAG	*,A	31349.59	.	AC=14,28;AF=0.333,0.667;AN=42;BaseQRankSum=0.794;DP=1383;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=14,28;MLEAF=0.333,0.667;MQ=60.00;MQRankSum=0.00;QD=27.92;ReadPosRankSum=0.595;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,53:53:99:.:.:2233,2233,2233,160,160,0	0	0	0	0
chr15	90625899	90625899	C	G	exonic	CRTC3	.	nonsynonymous SNV	CRTC3:NM_001042574:exon10:c.C873G:p.D291E	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.000	D	1.000	D	1.975	M	-0.16	T	-0.585	T	0.310	T	0.267	2.705	15.01	0.973	0.300	0.136	4.342	0.186	0.0179829276429	.	.	0.0001	0	8.637e-05	0	0	0.0002	0	0	0.0001294	20	154602	rs575632375	8.277e-05	8.277e-05	7.759e-05	8.8e-05	0.0016	7.069e-05	6.618e-05	0.0008	0.0006	0	4.472e-05	0	0	0	0.0016	9.442e-05	8.279e-05	0	5.252e-05	5.249e-05	5.139e-05	5.369e-05	0.0001	2.555e-05	1.829e-05	4.765e-05	3.339e-05	0	0	6.535e-05	0	0	0	0	0.0001	0	0	0.031	0.45039	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.098878	0.981278	0.39758	D	2.86	0.83026	M	-0.16	0.65378	T	-3.48	0.67941	D	0.185	0.20129	-0.5849	0.65423	T	0.310	0.68066	T	10	0.22447652	0.39252	T	0.017983	0.39885	T	0.186	0.46104	0.417	0.45709	0.444231683744	0.44045	0.5450481384412009	0.54430	0.0893282996329	0.10092	0.438406467438	0.30359	T	0.515034	0.82930	D	-0.278435	0.10833	T	-0.353015	0.38859	T	0.321841597557068	0.25897	T	0.518548	0.16835	T	0.23225792	0.46010	0.16735324	0.38614	0.23225792	0.46010	0.16735324	0.38613	-5.198	0.38942	T	.	.	0.137	0.30423	B	.;.	.;.	1.669478	0.21287	15.13	0.99560808489282659	0.71769	0.31577	0.24372	N	AEFGBI	0.097733	0.19706	N	-0.0265874734191181	0.40653	2.418013	-0.220168730245498	0.30814	1.738233	0.999940826667766	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.616094	0.41390	0	0.714379	0.83352	0	.	.	5.37	0.973	0.18829	0.041000	0.13813	-0.757000	0.07552	-0.174000	0.10959	0.177000	0.24026	0.000000	0.08366	0.042000	0.14466	0.0:0.4632:0.1606:0.3762	4.342	0.10555	840	0.37365	.;Transducer of regulated CREB activity, middle domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1942.98	35	chr15	90625899	.	C	G	1942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.933e+00;DP=863;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=0.454;SOR=0.742	GT:AD:DP:GQ:PL	0/1:62,82:144:99:1957,0,1556	20	0	1	0
chr15	99130596	99130596	G	C	exonic	SYNM	.	nonsynonymous SNV	SYNM:NM_015286:exon4:c.G2236C:p.V746L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	.	.	1.000	D	.	.	-3.11	D	0.923	D	0.867	D	0.57	3.840	19.50	4.55	1.438	8.668	13.495	0.782	0.4652110572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.029	0.54541	D	.	.	.	.	.	.	.	.	.	.	0.999961	0.52935	D	.	.	.	-1.95	0.92774	D	-1.86	0.43524	N	0.662	0.67132	0.923	0.96008	D	0.867	0.95570	D	8	0.86890686	0.86147	D	0.465211	0.94583	D	0.782	0.92746	0.659	0.79689	0.790923931432	0.78898	0.7042032887819253	0.70362	0.647298771273	0.58112	0.451705038548	0.32176	T	0.186456	0.53976	T	0.218309	0.75616	D	0.0758093	0.75298	D	0.953086050751277	0.63944	D	0.845515	0.52437	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.683	0.77283	P	.;.;.	.;.;.	4.124841	0.61682	24.4	0.99751152247336383	0.84305	0.95952	0.66868	D	AEFDGBCIJ	0.901117	0.84743	D	0.633473376476093	0.75301	6.28219	0.595288522141523	0.74601	6.164919	0.999999999999952	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.654926	0.60358	0	.	.	5.46	4.55	0.55429	8.832000	0.91692	11.773000	0.95911	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.285000	0.24139	0.0749:0.0:0.9251:0.0	13.495	0.60871	981	0.03995	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1642.98	100	chr15	99130596	.	G	C	1642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=1410;ExcessHet=0.0000;FS=1.394;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.74;ReadPosRankSum=-6.670e-01;SOR=0.857	GT:AD:DP:GQ:PL	0/1:65,64:129:99:1657,0,1576	20	0	1	0
chr15	99712514	99712519	CAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1033_1038del:p.Q351_Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/1:53,50,0,0:103:99:1849,0,1966,2008,2118,4126,2008,2118,4126,4126	8	2	8	0
chr15	99712505	99712519	CAGCAGCAGCAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1024_1038del:p.Q348_Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	3207195	MEF2A-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051	.	0.0163	0.0020	0.0084	0	0.0006	0.0040	0.0093	0.0378	0.0001537	4	26028	rs748617871	0.0057	0.0054	0.0048	0.0066	0.0328	0.0056	0.0056	0.0318	0.0313	0.0011	0.0209	0.0009	0.0019	0.0015	0.0269	0.0036	0.0059	0.0328	0.0056	0.0056	0.0050	0.0061	0.0227	0.0052	0.0051	0.0192	0.0179	0.0014	0	0.0195	0.0003	0.0010	0.0019	0.0510	0.0048	0.0072	0.0227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/1:53,50,0,0:103:99:1849,0,1966,2008,2118,4126,2008,2118,4126,4126	8	2	8	0
chr15	99712517	99712519	CAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1036_1038del:p.Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/1:53,50,0,0:103:99:1849,0,1966,2008,2118,4126,2008,2118,4126,4126	8	2	8	0
chr16	426430	426430	C	G	exonic	RAB11FIP3	.	nonsynonymous SNV	RAB11FIP3:NM_001370401:exon1:c.C424G:p.P142A	.	.	426	1052	44	0	0	44	0.0204842	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.001	B	.	.	1.000	N	0	N	.	.	-1.024	T	0.012	T	0.051	1.094	9.465	-5.25	-1.714	-1.094	4.337	0.006	.	0.0046	0.0131789	0.0127	0.0416	0.0086	0.0115	0	0.0074	0.0042	0.0157	0.0046248	715	154602	rs181591879	0.0044	0.0044	0.0041	0.0046	0.0223	0.0043	0.0042	0.0211	0.0206	0.0181	0.0028	0.0082	0.0223	0.0014	0.0114	0.0027	0.0058	0.0124	0.0084	0.0084	0.0086	0.0082	0.0187	0.0080	0.0079	0.0177	0.0172	0.0187	0.0384	0.0040	0.0101	0.0119	0.0010	0.0274	0.0032	0.0061	0.0112	0.228	0.30097	T	0.242	0.24264	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-0.71	0.21644	N	0.048	0.01999	-1.0245	0.22246	T	0.012	0.04463	T	8	0.0030046105	0.00049	T	.	.	.	0.006	0.00375	.	.	0.102598925029	0.09809	0.1728067348510978	0.17200	0.989507635279	0.74020	0.423449724913	0.28312	T	0.007064	0.08010	T	-0.707651	0.00033	T	-0.773012	0.02670	T	0.00111585305542652	0.00011	T	.	.	.	0.04552668	0.07468	0.032954417	0.02112	0.04552668	0.07468	0.032954417	0.02112	-3.315	0.13932	T	.	.	0.053	0.00259	B	.;.	.;.	-1.276361	0.00458	0.010	0.58095512191038035	0.05915	0.02685	0.07319	N	AEFDBCIJ	0.036268	0.04805	N	-1.53237510094476	0.01640	0.07173305	-1.61767532201568	0.01551	0.07030326	0.999999086423531	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	2.63	-5.25	0.02567	-3.580000	0.00474	-3.713000	0.02587	-1.310000	0.01236	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3572:0.3646:0.2782	4.337	0.10529	773	0.48803	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	6548.66	142	chr16	426430	.	C	G	6548.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.545e+00;DP=975;ExcessHet=0.0000;FS=1.820;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=21.61;ReadPosRankSum=0.544;SOR=0.563	GT:AD:DP:GQ:PL	1/1:0,161:161:99:4692,483,0	19	1	1	0
chr16	722968	722968	C	T	exonic	CCDC78	.	nonsynonymous SNV	CCDC78:NM_001378033:exon9:c.G688A:p.E230K	Myopathy, centronuclear, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.408	B	0.045	B	.	.	1.000	D	.	.	.	.	-1.093	T	0.083	T	.	1.828	12.07	2.53	0.328	2.226	8.118	0.026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294022125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4346.08	40	chr16	722968	.	C	T	4346.08	.	AC=2;AF=0.048;AN=42;DP=948;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.72;SOR=0.864	GT:AD:DP:GQ:PL	1/1:0,137:137:99:4374,411,0	20	1	0	0
chr16	1079218	1079218	C	T	exonic	SSTR5	.	nonsynonymous SNV	SSTR5:NM_001053:exon1:c.C350T:p.T117M	Somatostatin analog, resistance to (3), Autosomal dominant, Somatic mutation	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.987	D	0.000	D	0.997	D	2.13	M	2.12	T	-0.894	T	0.142	T	0.764	3.910	19.88	4.87	2.260	7.602	16.982	0.344	0.0600191471603	.	0.00179712	0.0012	0	8.709e-05	0.0001	0	0.0002	0.0011	0.0079	0.0010931	169	154602	rs577188951	0.0009	0.0009	0.0007	0.0011	0.0082	0.0009	0.0008	0.0077	0.0075	8.963e-05	4.472e-05	0	0	0	0.0009	0.0005	0.0007	0.0082	0.0006	0.0006	0.0004	0.0008	0.0070	0.0005	0.0004	0.0052	0.0045	0.0001	0	0.0002	0	0	0	0	0.0006	0	0.0070	0.002	0.72154	D	0.014	0.62352	D	1.0	0.90584	D	0.987	0.77487	D	0.000002	0.62929	D	0.058518	0.996737	0.43384	D	1.745	0.45235	L	2.12	0.19726	T	-4.02	0.74269	D	0.649	0.66016	-0.8937	0.48605	T	0.142	0.46257	T	10	0.01292634	0.00276	T	0.060019	0.67862	D	0.344	0.66582	.	.	0.632893766264	0.62988	0.5162402222556828	0.51547	0.830302522001	0.67596	0.592621028423	0.51864	T	0.476259	0.80697	T	-0.290399	0.09597	T	-0.184082	0.56143	T	0.0878093445013878	0.10956	T	0.927907	0.73422	D	0.5343479	0.69078	0.5666113	0.74914	0.5343479	0.69079	0.5666113	0.74914	-7.329	0.56401	T	.	.	0.196	0.41783	B	.	.	5.508829	0.91661	32	0.99894020542864037	0.96742	0.94578	0.61622	D	AEFGBHCI	0.914405	0.87771	D	0.756661377704807	0.83340	7.991454	0.71791070118661	0.83740	8.101445	0.999999996765892	0.74766	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.550183	0.17644	0	.	.	4.87	4.87	0.62877	4.861000	0.62666	4.770000	0.44768	0.596000	0.33519	0.998000	0.41325	1.000000	0.68203	0.797000	0.37605	0.0:1.0:0.0:0.0	16.982	0.86202	958	0.09170	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2374.98	125	chr16	1079218	.	C	T	2374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.620e-01;DP=1805;ExcessHet=0.0000;FS=3.115;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=-1.500e-02;SOR=0.664	GT:AD:DP:GQ:PL	0/1:107,100:207:99:2389,0,2688	20	0	1	0
chr16	1228762	1228762	G	A	exonic	TPSB2	.	nonsynonymous SNV	TPSB2:NM_024164:exon6:c.C716T:p.A239V,	.	.	442	1078	2	0	0	2	0.000926784	.	.	2810765	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.87	T	0.955	P	0.144	B	0.014	N	1.000	N	.	.	-2.2	D	-0.630	T	0.238	T	0.284	-1.096	0.146	1.76	0.716	0.752	5.365	0.216	0.0391921706305	0.0019	0.000998403	0.0021	0.0007	0.0008	0	0.0008	0.0021	0	0.0052	0.0014424	223	154602	rs377518279	0.0023	0.0023	0.0022	0.0023	0.0043	0.0022	0.0022	0.0039	0.0038	0.0005	0.0007	0.0002	2.598e-05	0.0008	0.0002	0.0024	0.0018	0.0043	0.0015	0.0017	0.0016	0.0014	0.0024	0.0013	0.0012	0.0021	0.0020	0.0006	0	0.0011	0.0006	0	0.0004	0	0.0024	0	0.0006	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.013571	0.28799	N	0.162599	0.999953	0.19072	N	.	.	.	.	.	.	.	.	.	0.167	0.17691	-0.6302	0.63562	T	0.238	0.60499	T	9	0.0325495	0.01409	T	0.039192	0.58670	D	.	.	.	.	0.0716867268079	0.06686	0.26890481414157447	0.26803	.	.	0.407631844282	0.26128	T	.	.	.	-0.315429	0.07279	T	-0.225739	0.52182	T	0.0206872950787928	0.00768	T	0.858314	0.54891	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.45738	B	.;.	.;.	1.026983	0.14066	10.64	0.7093993899100236	0.09462	0.16731	0.19523	N	AEFGI	0.041476	0.06309	N	-0.433548995678859	0.24301	1.311179	-0.491490558151285	0.22387	1.215694	0.00129884366857155	0.08419	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	.	.	3.8	1.76	0.23776	0.072000	0.14482	-1.339000	0.05677	0.522000	0.23927	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.3609:0.0:0.6391:0.0	5.365	0.15410	923	0.18507	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	175.98	92	chr16	1228762	.	G	A	175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.080e-01;DP=1428;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.09;MQRankSum=0.152;QD=1.52;ReadPosRankSum=-1.740e-01;SOR=0.689	GT:AD:DP:GQ:PL	0/1:96,20:116:99:190,0,3389	20	0	1	0
chr16	1228926	1228926	C	T	exonic	TPSB2	.	nonsynonymous SNV	TPSB2:NM_024164:exon5:c.G637A:p.G213R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.98	D	0.000	D	0.573	D	.	.	-2.73	D	0.953	D	0.824	D	0.845	4.266	22.3	3.79	1.842	2.082	13.502	0.662	0.436263652133	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347218872	3.631e-05	5.36e-05	3.517e-05	3.734e-05	6.562e-05	2.124e-05	1.659e-05	2.779e-05	2.157e-05	0	6.562e-05	0	0	0	0	5e-05	5.133e-05	0	0	2.235e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.054	0.48080	T	.	.	.	.	.	.	0.000224	0.47286	D	0.000000	0.573062	0.32310	D	.	.	.	.	.	.	.	.	.	0.3	0.35408	0.953	0.96442	D	0.824	0.94079	D	9	0.950441	0.94379	D	0.436264	0.94078	D	.	.	0.913	0.98308	0.277730125212	0.27379	0.4818097992643128	0.48100	.	.	0.702368736267	0.67487	T	.	.	.	0.439652	0.92006	D	0.393753	0.91907	D	0.987320184707642	0.77842	D	0.887111	0.61484	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.927	0.84763	P	.;.	.;.	3.388956	0.46908	22.4	0.99842036853292215	0.92229	0.84388	0.43470	D	AEFGI	0.261296	0.37928	N	0.15376521369477	0.48989	3.104572	0.000403170442467432	0.39735	2.360531	0.991900497654993	0.32650	0.080785	0.02172	0	0.063388	0.01293	0	0.121075	0.03231	0	0.062806	0.01542	0	.	.	3.79	3.79	0.42757	3.022000	0.49342	0.409000	0.18089	0.452000	0.21348	0.968000	0.34134	0.036000	0.21445	0.006000	0.07323	0.0:1.0:0.0:0.0	13.502	0.60914	923	0.18507	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	34.62	2	chr16	1228926	.	C	T	34.62	.	AC=2;AF=0.071;AN=28;DP=26;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.1537;MLEAC=2;MLEAF=0.071;MQ=40.00;QD=34.62;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,1:1:3:1|1:1228840_G_A:45,3,0:1228840	13	1	0	7
chr16	1242128	1242128	C	T	exonic	TPSAB1	.	nonsynonymous SNV	TPSAB1:NM_003294:exon6:c.C716T:p.A239V,	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	T	0.955	P	0.144	B	0.014	N	0.905	D	-1.185	N	-2.2	D	-0.628	T	0.159	T	0.45	-1.655	0.012	2.12	0.653	0.634	5.367	0.313	0.433241821357	.	0.000399361	0.0006	0.0004	0	0.0002	0	0.0001	0	0.0039	7.68e-05	2	26028	rs528808259	0.0002	0.0003	0.0001	0.0003	0.0031	0.0002	0.0002	0.0027	0.0026	0.0005	0	0	5.119e-05	0	0.0006	3.801e-05	0.0001	0.0031	0.0001	0.0002	0.0001	0.0001	0.0008	7.877e-05	6.322e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	1.843e-05	0.0008	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.955	0.54515	P	0.144	0.33818	B	0.013571	0.28799	N	0.162599	0.905264	0.36271	D	-0.29	0.03673	N	-2.2	0.86888	D	0.73	0.02518	N	0.203	0.22486	-0.6284	0.63639	T	0.159	0.49346	T	10	0.11104089	0.20779	T	0.433242	0.94022	D	0.313	0.63482	.	.	0.267299060538	0.26338	0.43449987858078915	0.43366	2.37714289507	0.96994	0.445918679237	0.31387	T	0.204264	0.56298	T	-0.334636	0.05769	T	-0.257136	0.49110	T	0.0262940857280014	0.01445	T	0.858314	0.54891	D	0.04923348	0.08710	0.042608526	0.05114	0.04923348	0.08709	0.042608526	0.05113	-6.077	0.46919	T	.	.	0.217	0.44630	B	.;.;.	.;.;.	0.713020	0.10821	7.500	0.18322089282069842	0.00571	0.25834	0.22816	N	AEFI	0.114589	0.22564	N	-0.973644511028651	0.09169	0.4328615	-0.97730152549505	0.10296	0.5176444	1.34269192740841E-5	0.02871	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	3.08	2.12	0.26372	0.952000	0.28747	-20.000000	0.00162	-0.469000	0.05095	0.332000	0.25606	0.000000	0.08366	0.006000	0.07323	0.0:0.7292:0.0:0.2707	5.367	0.15423	906	0.23090	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	544.98	27	chr16	1242128	.	C	T	544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.969e+00;DP=1265;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.59;MQRankSum=0.089;QD=4.70;ReadPosRankSum=0.645;SOR=0.070	GT:AD:DP:GQ:PL	0/1:92,24:116:99:559,0,3596	20	0	1	0
chr16	1432705	1432707	GAG	-	exonic	PERCC1	.	nonframeshift deletion	PERCC1:NM_001365310:exon2:c.112_114del:p.E47del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3063.65	15	chr16	1432701	.	AGAGGAG	AGAG,A,AGAGGAGGAG	3063.65	.	AC=9,1,1;AF=0.214,0.024,0.024;AN=42;BaseQRankSum=-1.580e-01;DP=320;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1368;MLEAC=9,1,1;MLEAF=0.214,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=24.51;ReadPosRankSum=-6.010e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/1:7,8,0,0:15:99:307,0,262,328,286,615,328,286,615,615	12	1	6	0
chr16	1432707	1432707	-	GAG	exonic	PERCC1	.	nonframeshift insertion	PERCC1:NM_001365310:exon2:c.114_115insGAG:p.E47_G48insE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3063.65	15	chr16	1432701	.	AGAGGAG	AGAG,A,AGAGGAGGAG	3063.65	.	AC=9,1,1;AF=0.214,0.024,0.024;AN=42;BaseQRankSum=-1.580e-01;DP=320;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1368;MLEAC=9,1,1;MLEAF=0.214,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=24.51;ReadPosRankSum=-6.010e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/1:7,8,0,0:15:99:307,0,262,328,286,615,328,286,615,615	12	1	6	0
chr16	1999881	1999881	G	0	exonic	ZNF598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	12579.4	40	chr16	1999881	.	G	GTCC,*	12579.4	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=0.849;DP=1110;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.7375;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=32.09;ReadPosRankSum=0.776;SOR=0.718	GT:AD:DP:GQ:PL	1/1:0,79,0:79:99:3496,237,0,3497,238,3497	15	3	2	0
chr16	2090293	2090293	C	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon45:c.G12433A:p.V4145I	Polycystic kidney disease, adult type I, Autosomal dominant	.	0	1451	67	4	0	75	0.0251931	.	.	255509	Polycystic_kidney_disease,_adult_type|not_provided|Polycystic_kidney_disease|not_specified	MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.987	D	0.879	P	0.075	N	0.965	N	2.14	M	1.31	T	-0.910	T	0.144	T	0.091	3.922	19.95	4.02	2.050	2.055	16.309	0.072	0.0451531310905	0.0032	0.00339457	0.0048	0.0005	0.0035	0.0001	0.0056	0.0053	0.0080	0.0088	0.0044049	681	154602	rs148478410	0.0038	0.0038	0.0036	0.0041	0.0175	0.0038	0.0037	0.0148	0.0137	0.0007	0.0028	0.0022	0	0.0053	0.0175	0.0036	0.0045	0.0083	0.0033	0.0033	0.0037	0.0029	0.0064	0.0031	0.0030	0.0050	0.0048	0.0006	0	0.0016	0.0020	0.0004	0.0022	0	0.0055	0.0066	0.0064	0.163	0.23541	T	0.034	0.52727	D	0.972	0.61912	D	0.633	0.62418	P	0.075110	0.21243	N	0.475314	0.965042	0.25955	N	2.6	0.76081	M	1.31	0.35405	T	-0.76	0.21215	N	0.806	0.80180	-0.9105	0.46793	T	0.144	0.46587	T	10	0.010210127	0.00228	T	0.045153	0.61843	D	0.072	0.21020	.	.	0.783245712702	0.78124	0.2612534345992779	0.26038	.	.	0.55258089304	0.46222	T	0.239847	0.60805	T	-0.541596	0.00328	T	-0.544627	0.17844	T	0.0181758844097079	0.00538	T	0.836316	0.50742	T	0.2944897	0.52406	0.09615326	0.22835	0.29896998	0.52812	0.08810598	0.20521	-5.215	0.39094	T	0.5661712876178673	0.63361	0.221	0.45199	B	.;.	.;.	3.833642	0.55435	23.6	0.99708122681245359	0.81143	0.84668	0.43753	D	AEFDBCI	0.397753	0.47370	N	0.423190931841611	0.62700	4.490252	0.380317644411658	0.60350	4.221811	0.999999840776265	0.74766	0.741868	0.97996	0	0.702456	0.74545	0	0.774882	0.98623	0	0.562822	0.20929	0	.	.	4.02	4.02	0.45968	2.770000	0.47346	7.502000	0.59501	0.465000	0.21702	0.997000	0.40164	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	16.309	0.82694	774	0.48577	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	6231.68	37	chr16	2090293	.	C	T	6231.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.880e-01;DP=1579;ExcessHet=0.3300;FS=1.097;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.03;ReadPosRankSum=-9.300e-02;SOR=0.771	GT:AD:DP:GQ:PL	0/1:102,119:221:99:2769,0,2345	18	0	3	0
chr16	2234685	2234685	G	A	exonic	E4F1	.	nonsynonymous SNV	E4F1:NM_001288778:exon9:c.G1165A:p.V389M	.	.	404	1116	2	0	0	2	0.000895255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.999	D	0.923	D	0.000	D	0.984	D	-0.63	N	1.26	T	-1.040	T	0.065	T	0.401	0.959	8.911	4.42	2.528	5.171	6.218	0.187	0.0241827009614	.	.	2.979e-05	0	0	0	0	6.252e-05	0	0	6.5e-06	1	154602	rs759971546	1.261e-05	1.368e-05	1.388e-05	1.132e-05	0.0004	7.88e-06	6.5e-06	6.536e-05	2.649e-05	3.052e-05	0	0	0	0	0.0004	1.371e-05	0	0	6.569e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.163	0.25873	T	0.254	0.29945	T	0.999	0.77913	D	0.923	0.65830	D	0.000014	0.62929	D	0.109289	0.984148	0.40106	D	-0.23	0.03940	N	1.26	0.36330	T	-0.05	0.21215	N	0.376	0.43029	-1.0405	0.17162	T	0.065	0.26913	T	10	0.28639862	0.46222	T	0.024183	0.47165	T	0.187	0.46274	0.358	0.36060	0.563544018958	0.56017	0.2853184550342537	0.28444	1.15164051765	0.79219	0.800744652748	0.82077	T	0.057284	0.30523	T	-0.099907	0.36441	T	-0.381286	0.35571	T	0.212548702930661	0.21086	T	0.923008	0.71997	D	0.046642225	0.07841	0.05466986	0.09447	0.046642225	0.07840	0.05466986	0.09447	-8.67	0.65550	D	.	.	0.417	0.71423	A	.;.;.	.;.;.	5.172848	0.86713	29.0	0.85738063313921842	0.16081	0.86916	0.46306	D	AEFBHCI	0.465993	0.51383	N	0.355304769454034	0.59019	4.078168	0.431717389338302	0.63550	4.591152	0.999998752134276	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.38	4.42	0.52775	5.211000	0.65052	7.500000	0.59476	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.314000	0.24830	0.2396:0.0:0.7604:0.0	6.218	0.19875	542	0.72843	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1722.98	41	chr16	2234685	.	G	A	1722.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=908;ExcessHet=0.0000;FS=3.654;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=-7.780e-01;SOR=0.984	GT:AD:DP:GQ:PL	0/1:84,76:160:99:1737,0,1776	20	0	1	0
chr16	2464630	2464630	C	T	exonic	TEDC2	.	nonsynonymous SNV	TEDC2:NM_025108:exon10:c.C1264T:p.R422C,	.	.	409	1076	34	3	0	40	0.0182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.049	B	0.008	B	0.465	N	1.000	N	1.735	L	0.71	T	-0.975	T	0.074	T	0.297	2.565	14.54	1.15	0.456	0.156	3.475	0.040	.	0.0054	0.00519169	0.0088	0.0014	0.0028	0	0.0239	0.0100	0.0060	0.0119	0.0079688	1232	154602	rs72768723	0.0071	0.0071	0.0069	0.0073	0.0161	0.0070	0.0070	0.0135	0.0125	0.0014	0.0032	0.0080	0	0.0193	0.0161	0.0068	0.0081	0.0101	0.0059	0.0059	0.0052	0.0066	0.0073	0.0056	0.0055	0.0061	0.0059	0.0013	0	0.0057	0.0104	0.0002	0.0202	0.0137	0.0066	0.0080	0.0073	0.003	0.68238	D	0.001	0.83351	D	0.049	0.22227	B	0.008	0.13708	B	0.464993	0.12346	N	0.722332	1	0.08975	N	.	.	.	0.71	0.51228	T	-4.08	0.74742	D	0.221	0.24758	-0.9751	0.36104	T	0.074	0.29739	T	10	0.0042487085	0.00085	T	.	.	.	0.040	0.10527	.	.	0.582293646009	0.57902	0.29318303773211113	0.29231	0.553608707389	0.52127	.	.	.	0.077173	0.35591	T	-0.479382	0.00745	T	-0.451981	0.27477	T	0.0354814574228661	0.02890	T	0.784022	0.42156	T	0.28052235	0.51099	0.16465454	0.38132	0.28052235	0.51098	0.16465454	0.38131	-5.717	0.43845	T	.	.	0.158	0.35204	B	.;.	.;.	2.178234	0.27765	17.57	0.99691153425546586	0.79977	0.10164	0.15745	N	AEFDGBHCI	0.120056	0.23405	N	-0.800832403474442	0.13289	0.6535961	-0.876775266829197	0.12646	0.6516711	0.999789446195623	0.43007	0.634777	0.41761	0	0.606735	0.50208	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	4.44	1.15	0.19876	0.159000	0.16258	-0.008000	0.13101	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.045000	0.14751	0.1996:0.5832:0.0:0.2172	3.475	0.07147	709	0.56835	.;.	.	.	.	.	rs72768723	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	477.98	33	chr16	2464630	.	C	T	477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.317;DP=749;ExcessHet=0.0000;FS=7.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.39;ReadPosRankSum=0.812;SOR=0.525	GT:AD:DP:GQ:PL	0/1:35,22:57:99:492,0,837	20	0	1	0
chr16	3119903	3119903	A	G	exonic	ZNF205	.	nonsynonymous SNV	ZNF205:NM_001042428:exon7:c.A1243G:p.T415A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.99	D	0.985	D	0.000	D	0.722	D	0.96	L	1.73	T	-0.841	T	0.105	T	0.534	3.092	16.33	5.54	2.105	0.766	13.633	0.149	0.0127757968644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.99	0.63424	D	0.985	0.76457	D	0.000169	0.48594	D	0.000000	0.721912	0.33627	D	1.28	0.32218	L	1.73	0.26445	T	-4.78	0.80510	D	0.39	0.50778	-0.8409	0.52587	T	0.105	0.38415	T	10	0.41404718	0.56420	T	0.012776	0.31649	T	0.149	0.39377	0.346	0.34112	0.594283004778	0.59106	0.3859092241501089	0.38505	1.75051939217	0.90991	0.73111397028	0.71669	T	0.345925	0.71425	T	-0.0714003	0.41103	T	-0.340338	0.40306	T	0.982912659645081	0.74780	D	0.686231	0.29475	T	0.7199688	0.79159	0.65991277	0.80076	0.7199688	0.79161	0.65991277	0.80077	-8.829	0.66590	D	.	.	0.445	0.62888	A	.;.;.	.;.;.	4.067042	0.60402	24.2	0.99477446465896247	0.66687	0.86983	0.46390	D	AEFDBCI	0.416070	0.48467	N	0.27845909219421	0.55057	3.670199	0.255723748996827	0.52974	3.468964	0.996707750846969	0.34942	0.706548	0.73137	0	0.694456	0.67091	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	1.462000	0.34876	.	.	0.751000	0.87719	0.748000	0.29111	1.000000	0.68203	0.969000	0.54022	1.0:0.0:0.0:0.0	13.633	0.61677	825	0.40060	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1619.98	38	chr16	3119903	.	A	G	1619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.750e-01;DP=910;ExcessHet=0.0000;FS=8.424;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=-1.471e+00;SOR=0.722	GT:AD:DP:GQ:PL	0/1:87,67:154:99:1634,0,2357	20	0	1	0
chr16	3393703	3393703	G	A	exonic	ZSCAN32	.	nonsynonymous SNV	ZSCAN32:NM_001324343:exon2:c.C79T:p.P27S	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	.	.	3.15	T	-0.939	T	0.006	T	0.106	2.195	13.30	-5.94	-0.670	-0.900	1.464	0.017	0.00106892973446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.153e-07	6.84e-07	1.411e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.28520	T	0.512	0.10750	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.895	0.22405	L	3.15	0.07820	T	-0.53	0.16393	N	0.077	0.05162	-0.9392	0.42743	T	0.006	0.02093	T	8	0.05839342	0.06858	T	0.001069	0.01239	T	0.017	0.02790	0.35	0.34760	0.0551355673512	0.04727	0.14535768926228101	0.14458	.	.	0.215341031551	0.01058	T	0.00828	0.11335	T	-0.365278	0.03840	T	-0.762473	0.03025	T	0.0422493378733353	0.04101	T	0.212379	0.04184	T	0.020769214	0.00649	0.035767052	0.02892	0.020769214	0.00648	0.035767052	0.02892	-3.587	0.17669	T	.	.	0.155	0.34383	B	.;.;.;.;.	.;.;.;.;.	0.102090	0.05034	1.582	0.97800000283297861	0.36058	0.00414	0.02050	N	AEFBI	0.025028	0.01644	N	-1.33009983557517	0.03336	0.1488375	-1.44645314842266	0.02802	0.1295667	0.993639088578783	0.33294	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.12	-5.94	0.02060	-1.018000	0.03737	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.3944:0.1422:0.3241:0.1393	1.464	0.02257	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1301.98	37	chr16	3393703	.	G	A	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=776;ExcessHet=0.0000;FS=4.330;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.69;ReadPosRankSum=-9.000e-03;SOR=1.122	GT:AD:DP:GQ:PL	0/1:33,50:83:99:1316,0,679	20	0	1	0
chr16	4988245	4988245	A	T	exonic	SEC14L5	.	nonsynonymous SNV	SEC14L5:NM_014692:exon4:c.A310T:p.N104Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.977	D	0.797	P	0.001	N	0.999	D	2.045	M	2.18	T	-0.989	T	0.103	T	0.178	4.079	21.0	4.34	1.829	8.506	13.672	0.265	0.0470700725582	7.8e-05	0.000199681	3.373e-05	0.0004	0	0	0	0	0	0	3.23e-05	5	154602	rs184592261	9.579e-06	9.577e-06	2.723e-06	1.651e-05	0.0004	5.56e-06	4.35e-06	0.0002	0.0002	0.0004	0	0	0	0	0.0002	8.995e-07	0	0	8.537e-05	8.53e-05	7.71e-05	9.401e-05	0.0003	4.954e-05	3.96e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.002	0.79402	D	0.977	0.58535	D	0.797	0.58061	P	0.001285	0.39521	N	0.218881	0.999257	0.46462	D	1.87	0.49600	L	2.18	0.18875	T	-3.65	0.69950	D	0.463	0.49965	-0.9894	0.32753	T	0.103	0.37869	T	10	0.2995624	0.47508	T	0.04707	0.62750	D	0.265	0.57870	.	.	0.267299060538	0.26338	0.34894992970300037	0.34808	0.168298605729	0.18978	0.39518237114	0.24397	T	0.216176	0.57826	T	-0.383455	0.02962	T	-0.458582	0.26755	T	0.489574931434845	0.32249	T	0.89481	0.87125	D	0.46690908	0.65100	0.3684705	0.62136	0.46690908	0.65101	0.3684705	0.62136	-11.839	0.84058	D	.	.	0.180	0.47404	B	.;.	.;.	4.337232	0.66507	25.0	0.99399428175220961	0.62748	0.96842	0.71235	D	AEFDGBHCI	0.916927	0.88381	D	0.529507194804302	0.68843	5.273318	0.464120134706125	0.65629	4.84793	0.999999999999989	0.74766	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	4.34	4.34	0.51267	8.776000	0.91415	9.003000	0.78534	-0.177000	0.10537	1.000000	0.71638	1.000000	0.68203	0.071000	0.16709	1.0:0.0:0.0:0.0	13.672	0.61909	804	0.43891	PRELI/MSF1 domain|PRELI/MSF1 domain;PRELI/MSF1 domain|PRELI/MSF1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1609.98	38	chr16	4988245	.	A	T	1609.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.25;ReadPosRankSum=-4.780e-01;SOR=0.646	GT:AD:DP:GQ:PL	0/1:91,66:157:99:1624,0,2310	20	0	1	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	95489.43	192	chr16	11927475	.	G	A,*	95489.43	.	AC=30,4;AF=0.714,0.095;AN=42;BaseQRankSum=1.26;DP=4093;ExcessHet=0.0303;FS=0.000;InbreedingCoeff=0.3824;MLEAC=30,4;MLEAF=0.714,0.095;MQ=59.99;MQRankSum=0.00;QD=24.53;ReadPosRankSum=0.415;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,216,0:216:99:.:.:6415,646,0,6415,646,6415	2	11	4	0
chr16	11927788	11927788	T	C	exonic	NPIPB2	.	nonsynonymous SNV	NPIPB2:NM_001355514:exon9:c.A257G:p.H86R,	.	.	447	1068	7	0	0	7	0.00326645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	.	.	.	.	1.04	T	-0.568	T	0.170	T	0.032	-1.085	0.158	.	.	0.065	.	0.067	0.132693555051	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1243067868	2.057e-05	0.0002	1.833e-05	2.284e-05	0.0007	1.443e-05	1.248e-05	0.0004	0.0004	0.0007	7.556e-05	0	0	0	0	0	1.699e-05	4.779e-05	0.0008	0.0020	0.0007	0.0008	0.0027	0.0006	0.0006	0.0023	0.0021	0.0027	0	0.0006	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.04	0.40218	T	-2.56	0.55339	D	0.087	0.06454	-0.5680	0.66095	T	0.170	0.51117	T	2	0.11053592	0.20664	T	0.132694	0.81503	D	0.067	0.19503	0.674	0.81200	0.367042808489	0.36316	0.006866967648232035	0.00653	0.406905597714	0.41562	.	.	.	.	.	.	-0.341065	0.05315	T	-0.727692	0.04432	T	0.0774592484139249	0.09659	T	0.556544	0.19325	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14706	B	.;.	.;.	-0.293961	0.02643	0.335	0.2887038529165093	0.01504	0.00273	0.01482	N	AEFI	0.030895	0.03197	N	-0.337961426321134	0.27717	1.52297	-0.495714238139624	0.22272	1.208868	1.09648973830877E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	0.065000	0.14336	-5.415000	0.01727	0.085000	0.17582	0.347000	0.25734	0.000000	0.08366	0.422000	0.27272	.	.	.	758	0.50837	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	47.98	41	chr16	11927788	.	T	C	47.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.796e+00;DP=943;ExcessHet=0.0000;FS=6.187;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.38;MQRankSum=1.10;QD=0.32;ReadPosRankSum=1.22;SOR=1.647	GT:AD:DP:GQ:PL	0/1:135,17:152:62:62,0,3875	20	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.275	M	1.91	T	-0.639	T	0.257	T	0.982	2.967	15.89	0.019	-0.196	0.232	11.520	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	4257.38	166	chr16	14582206	.	G	C	4257.38	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.582e+00;DP=3785;ExcessHet=43.6797;FS=424.104;InbreedingCoeff=-0.9074;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=1.35;ReadPosRankSum=1.10;SOR=14.488	GT:AD:DP:GQ:PL	0/1:103,73:176:99:288,0,1412	1	0	20	0
chr16	21404822	21404822	A	G	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	534	979	9	0	0	9	0.0045755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.782	P	0.588	P	.	.	1.000	N	.	.	2.23	T	-1.065	T	0.027	T	0.124	-2.992	0.001	.	0.064	0.061	.	0.034	0.000814305480675	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs768919248	0.0008	0.0008	0.0005	0.0010	0.0072	0.0007	0.0007	0.0068	0.0066	0.0002	0.0003	0.0050	0	4.968e-05	0.0050	0.0002	0.0011	0.0072	0.0003	0.0004	0.0004	0.0002	0.0012	0.0002	0.0002	0.0002	9.749e-05	0.0002	0	0.0004	0.0028	0	0	0	0.0002	0.0009	0.0012	0.26	0.16574	T	0.163	0.31125	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-5.27	0.84175	D	0.371	0.41261	-1.0654	0.10456	T	0.027	0.11485	T	6	0.010564804	0.00235	T	8.14E-4	0.00649	T	0.034	0.08419	.	.	0.0675242888579	0.06100	0.0039076825103428045	0.00366	.	.	.	.	.	.	.	.	-0.553547	0.00278	T	-0.560232	0.16355	T	0.132421325003228	0.15604	T	0.514049	0.16524	T	.	.	.	.	.	.	.	.	-5.128	0.38201	T	.	.	.	.	.	.	.	0.412528	0.07833	4.529	0.11368674612924323	0.00169	0.00268	0.01460	N	AEFI	0.064389	0.12500	N	-1.10038978236753	0.06637	0.3060837	-1.28425517447828	0.04643	0.219474	1.09547697404592E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	0.187000	0.16806	-1.134000	0.06229	0.222000	0.18087	0.018000	0.19461	0.000000	0.08366	0.011000	0.09372	.	.	.	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.075	6865.72	36	chr16	21404822	.	A	G	6865.72	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-1.443e+00;DP=2372;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=35.89;MQRankSum=0.605;QD=8.60;ReadPosRankSum=-7.810e-01;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:310,100:410:99:0|1:21404773_G_A:3255,0,12705:21404773	17	0	3	1
chr16	21404830	21404830	C	G	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	521	992	9	0	0	9	0.00451581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.013	B	0.013	B	.	.	1.000	N	.	.	2.25	T	-0.985	T	0.011	T	0.071	-2.748	0	.	-2.328	-2.332	.	0.113	0.00305511340832	.	.	1.21e-05	0.0002	0	0	0	0	0	0	3.84e-05	1	26028	rs764442120	0.0008	0.0008	0.0005	0.0011	0.0072	0.0008	0.0007	0.0068	0.0066	0.0002	0.0004	0.0051	0.0001	0	0.0053	0.0003	0.0012	0.0072	0.0003	0.0003	0.0004	0.0002	0.0011	0.0002	0.0002	0.0002	9.48e-05	0.0002	0	0.0001	0.0022	0	0	0	0.0002	0.0017	0.0011	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	3.63	0.00077	N	0.211	0.23506	-0.9853	0.33760	T	0.011	0.04274	T	6	0.014197737	0.00299	T	0.003055	0.06577	T	0.113	0.31778	.	.	0.043077524339	0.03247	0.003800006791874197	0.00355	.	.	.	.	.	.	.	.	-0.658688	0.00064	T	-0.72572	0.04523	T	0.00588467453405273	0.00065	T	0.548145	0.18826	T	.	.	.	.	.	.	.	.	3.676	0.00011	T	.	.	.	.	.	.	.	-0.709877	0.01297	0.069	0.3888448388659913	0.02650	0.00019	0.00214	N	AEFI	0.016501	0.00375	N	-2.01282428854043	0.00199	0.00850851	-2.13039005528964	0.00160	0.007031799	4.56923251083003E-5	0.03989	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	-3.305000	0.00575	-4.306000	0.02226	-2.807000	0.00183	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	878	0.29785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	7237.77	36	chr16	21404830	.	C	G	7237.77	.	AC=3;AF=0.075;AN=40;BaseQRankSum=1.19;DP=2457;ExcessHet=0.3476;FS=0.000;InbreedingCoeff=0.0789;MLEAC=3;MLEAF=0.075;MQ=36.50;MQRankSum=0.439;QD=8.45;ReadPosRankSum=-3.100e-01;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:338,103:441:99:0|1:21404773_G_A:3297,0,13872:21404773	17	0	3	1
chr16	21404840	21404840	G	T	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	489	1024	9	0	0	9	0.0043753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.235	B	0.079	B	.	.	1.000	N	.	.	1.89	T	-0.991	T	0.032	T	0.071	-0.976	0.297	.	0.073	0.064	.	0.080	0.000773427527902	.	.	8.924e-06	0	0	0	0	1.608e-05	0	0	3.84e-05	1	26028	rs780924189	0.0008	0.0008	0.0005	0.0011	0.0072	0.0008	0.0007	0.0067	0.0065	0.0002	0.0003	0.0050	0.0003	0	0.0052	0.0003	0.0011	0.0072	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0003	0.0001	6.338e-05	0	7.944e-05	0.0016	0.0003	0	0	0.0002	0.0006	0.0010	0.226	0.18562	T	0.461	0.12562	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-1.0	0.26422	N	0.186	0.20262	-0.9910	0.32347	T	0.032	0.13592	T	6	0.023569375	0.00621	T	7.73E-4	0.00568	T	0.080	0.23350	.	.	0.043077524339	0.03247	0.0020208442233526284	0.00187	.	.	.	.	.	.	.	.	-0.607099	0.00132	T	-0.652096	0.08808	T	0.00632926929471588	0.00070	T	0.60384	0.22664	T	.	.	.	.	.	.	.	.	-4.157	0.26126	T	.	.	.	.	.	.	.	0.171734	0.05604	2.060	0.65293036323049336	0.07732	0.00386	0.01946	N	AEFI	0.043803	0.06970	N	-1.08744069757645	0.06873	0.3176827	-1.23639843889576	0.05335	0.2539725	1.09582168514057E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	0.196000	0.16979	-2.062000	0.04270	0.286000	0.18717	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.075	8405.72	36	chr16	21404840	.	G	T	8405.72	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-1.942e+00;DP=2579;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=37.22;MQRankSum=0.316;QD=8.92;ReadPosRankSum=0.040;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:364,119:483:99:0|1:21404773_G_A:3801,0,14841:21404773	17	0	3	1
chr16	21404850	21404850	C	T	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	493	1019	1	0	9	10	0.000490436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.507e-05	0.0003	0	0	0	1.593e-05	0	0	3.84e-05	1	26028	rs771031390	0.0009	0.0010	0.0007	0.0012	0.0072	0.0009	0.0009	0.0067	0.0065	0.0009	0.0004	0.0051	0.0003	7.022e-05	0.0057	0.0004	0.0015	0.0072	0.0005	0.0008	0.0006	0.0003	0.0013	0.0004	0.0003	0.0005	0.0005	0.0008	0	0.0002	0.0016	0	0	0	0.0003	0.0012	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	8581.77	36	chr16	21404850	.	C	T	8581.77	.	AC=3;AF=0.075;AN=40;BaseQRankSum=0.725;DP=2655;ExcessHet=0.3476;FS=0.000;InbreedingCoeff=0.0789;MLEAC=3;MLEAF=0.075;MQ=37.58;MQRankSum=0.025;QD=8.75;ReadPosRankSum=-1.020e-01;SOR=0.740	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:379,126:505:99:0|1:21404773_G_A:3879,0,14988:21404773	17	0	3	1
chr16	24891019	24891019	C	T	exonic	SLC5A11	.	nonsynonymous SNV	SLC5A11:NM_001258412:exon8:c.C605T:p.P202L	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	1.24	L	-2.19	D	0.533	D	0.713	D	0.966	5.058	31	5.59	2.643	7.679	17.085	0.865	0.104272841356	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1022448043	1.231e-05	1.3e-05	8.167e-06	1.65e-05	0.0017	7.7e-06	6.35e-06	0.0009	0.0007	8.961e-05	2.236e-05	0	0	0	0.0017	0	6.623e-05	0	1.314e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0.0034	0	0	0	0.027	0.59928	D	0.08	0.63918	T	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.66	0.42513	L	-2.19	0.86815	D	-9.67	0.98589	D	0.904	0.93841	0.533	0.91000	D	0.713	0.90156	D	10	0.90579396	0.89944	D	0.104273	0.77877	D	0.865	0.95912	0.619	0.75347	0.782154788874	0.78014	0.8874508363741384	0.88714	0.669939924948	0.59385	0.691352546215	0.65900	T	0.196812	0.55330	T	0.388104	0.89216	D	0.319708	0.89080	D	0.999684929847717	0.98483	D	0.970103	0.89491	D	0.6266377	0.74119	0.46089074	0.68690	0.6266377	0.74120	0.46089074	0.68691	-9.079	0.70971	D	.	.	0.237	0.47039	B	.;.;.;.;.;.	.;.;.;.;.;.	5.238883	0.87945	29.4	0.99900284058958011	0.97199	0.97923	0.78155	D	AEFBI	0.956375	0.97487	D	0.727630521453352	0.81445	7.523489	0.736669652052853	0.85159	8.497858	0.99999999981475	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.59	5.59	0.84677	7.813000	0.84661	7.409000	0.58630	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.821000	0.38685	0.0:1.0:0.0:0.0	17.085	0.86484	830	0.39242	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1244.98	34	chr16	24891019	.	C	T	1244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=823;ExcessHet=0.0000;FS=5.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=-7.030e-01;SOR=0.499	GT:AD:DP:GQ:PL	0/1:61,54:115:99:1259,0,1305	20	0	1	0
chr16	29382024	29382024	G	A	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C2908T:p.R970W,	.	.	722	799	0	1	0	2	0.00125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	.	.	.	.	.	.	1.000	N	0	N	1.73	T	-1.000	T	0.030	T	0.119	1.397	10.60	.	.	-2.250	.	0.006	.	.	0.0429313	0.0033	0.1404	0	0	0	0.0003	0	0	0.0082603	215	26028	rs534726810	0.0026	0.0017	0.0031	0.0021	0.0864	0.0025	0.0024	0.0826	0.0811	0.0864	0.0042	0	0.0004	0	0.0015	0.0001	0.0055	0.0001	0.0078	0.0070	0.0070	0.0088	0.0384	0.0069	0.0066	0.0338	0.0321	0.0384	0	0.0035	0	0	0	0.0500	0.0001	0.0072	0	0.188	0.21304	T	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.73	0.26445	T	-0.71	0.20145	N	0.102	0.08506	-1.0005	0.29774	T	0.030	0.12804	T	4	0.0018253922	0.00024	T	.	.	.	0.006	0.00375	.	.	0.344945010812	0.34105	0.02946292166873099	0.02895	.	.	.	.	.	0.009751	0.08853	T	-0.605946	0.00134	T	-0.645912	0.09243	T	0.0180390439525152	0.00528	T	0.890711	0.62461	D	0.04921157	0.08703	0.07283446	0.15757	0.04921157	0.08703	0.07283446	0.15757	-9.716	0.72194	D	.	.	0.505	0.64821	A	.	.	2.103108	0.26757	17.23	0.99634914644411432	0.76264	0.00069	0.00489	N	AEFI	0.070102	0.13903	N	-0.677965854600027	0.16651	0.8502135	-0.788579293077805	0.14775	0.773781	1.09648973830877E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.161000	0.16298	-1.454000	0.05403	0.172000	0.17770	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	779	0.47767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	568.33	33	chr16	29382024	.	G	A	568.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.31;DP=793;ExcessHet=0.0000;FS=4.364;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=39.72;MQRankSum=2.47;QD=10.72;ReadPosRankSum=2.37;SOR=1.528	GT:AD:DP:GQ:PL	0/1:30,23:53:99:582,0,651	19	0	1	1
chr16	29383627	29383627	A	0	exonic	NPIPB11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2296.18	77	chr16	29383627	.	A	G,*	2296.18	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=2.03;DP=1184;ExcessHet=0.0208;FS=58.039;InbreedingCoeff=0.4285;MLEAC=11,1;MLEAF=0.275,0.025;MQ=35.46;MQRankSum=-8.430e-01;QD=5.36;ReadPosRankSum=-3.321e+00;SOR=3.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,7,0:32:99:.:.:131,0,507,205,529,734	11	3	5	1
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	807.49	39	chr16	29485668	.	C	*,G	807.49	.	AC=12,2;AF=0.286,0.048;AN=42;BaseQRankSum=-3.277e+00;DP=2501;ExcessHet=14.4320;FS=3.279;InbreedingCoeff=-0.5000;MLEAC=12,2;MLEAF=0.286,0.048;MQ=29.15;MQRankSum=-1.177e+00;QD=0.44;ReadPosRankSum=-2.008e+00;SOR=0.370	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,30,0:204:99:0|1:29485610_ACACACTC_A:909,0,6233,1283,6455,7947:29485610	7	0	12	0
chr16	30711901	30711901	G	A	exonic	SRCAP	.	nonsynonymous SNV	SRCAP:NM_006662:exon12:c.G1559A:p.S520N,	Floating-Harbor syndrome, Autosomal dominant	.	0	1498	23	1	0	25	0.00827541	.	.	215513	Inborn_genetic_diseases|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.24	T	0.008	B	0.011	B	0.000	D	0.659	D	1.1	L	-2.78	D	-0.100	T	0.529	D	0.133	0.739	7.921	3.9	2.675	1.516	8.365	0.236	0.0459896411407	0.0010	0.000199681	0.0008	0.0002	0.0010	0	0	0.0012	0.0022	6.056e-05	0.0008473	131	154602	rs139339184	0.0009	0.0009	0.0008	0.0009	0.0146	0.0008	0.0008	0.0121	0.0111	0.0008	0.0017	0.0112	0	0	0.0146	0.0006	0.0018	0.0002	0.0009	0.0009	0.0009	0.0010	0.0017	0.0008	0.0008	0.0012	0.0010	0.0001	0	0.0017	0.0112	0	0	0.0103	0.0009	0.0024	0.0002	0.02	0.49613	D	0.222	0.27414	T	0.001	0.07471	B	0.004	0.10090	B	0.000184	0.48115	D	0.092328	0.658629	0.33031	D	0.895	0.22405	L	-2.78	0.90962	D	-0.81	0.22294	N	0.19	0.22742	-0.0999	0.80100	T	0.529	0.82482	D	10	0.007154882	0.00163	T	0.04599	0.62243	D	0.236	0.53931	.	.	0.259504319725	0.25562	0.11843429782996315	0.11770	0.498353759159	0.48309	0.401875674725	0.25330	T	0.036745	0.24220	T	-0.345248	0.05033	T	-0.281931	0.46606	T	0.00806535731850769	0.00096	T	0.681032	0.28992	T	0.081624016	0.18766	0.09546178	0.22642	0.078741044	0.17948	0.11226003	0.27084	-6.963	0.53764	T	0.1370754078210993	0.15048	0.078	0.06756	B	.;.	.;.	3.012945	0.40302	21.1	0.83182990810711588	0.14586	0.86384	0.45653	D	AEFGBCI	0.161643	0.28773	N	-0.193678067596601	0.33398	1.894254	-0.0456428191951091	0.37680	2.209473	0.99991015317967	0.45857	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.86	3.9	0.44240	1.555000	0.35884	4.448000	0.43411	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.719000	0.34739	0.1039:0.0:0.8961:0.0	8.365	0.31544	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1873.98	34	chr16	30711901	.	G	A	1873.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.480e-01;DP=812;ExcessHet=0.0000;FS=0.747;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.85;ReadPosRankSum=0.337;SOR=0.580	GT:AD:DP:GQ:PL	0/1:42,63:105:99:1888,0,1148	20	0	1	0
chr16	30722724	30722724	A	G	exonic	SRCAP	.	nonsynonymous SNV	SRCAP:NM_006662:exon23:c.A3868G:p.S1290G,	Floating-Harbor syndrome, Autosomal dominant	.	4	1504	13	1	0	15	0.00496196	.	.	215514	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.24	T	0.001	B	0.002	B	.	.	1.000	D	0	N	-2.79	D	-0.327	T	0.464	T	0.275	0.866	8.507	5.17	2.181	3.145	12.628	0.228	0.0421634922354	0.0007	0.000199681	0.0007	0.0001	0.0010	0	0	0.0010	0.0023	6.316e-05	0.0006921	107	154602	rs150246733	0.0008	0.0008	0.0007	0.0008	0.0123	0.0007	0.0007	0.0100	0.0092	0.0007	0.0017	0.0111	0	0	0.0123	0.0005	0.0016	0.0002	0.0008	0.0008	0.0008	0.0009	0.0017	0.0007	0.0007	0.0012	0.0010	9.687e-05	0	0.0017	0.0115	0	0	0.0103	0.0007	0.0024	0.0002	0.012	0.54683	D	0.36	0.16964	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.81001	D	0	0.06538	N	-2.79	0.91019	D	-0.89	0.24026	N	0.372	0.41360	-0.3268	0.74227	T	0.464	0.79290	T	9	0.0070759654	0.00161	T	0.042163	0.60319	D	0.228	0.52768	.	.	0.196089822672	0.19227	0.10589574340905208	0.10519	0.160446265012	0.18105	0.536005973816	0.43882	T	0.033479	0.22931	T	-0.291006	0.09535	T	-0.204017	0.54265	T	0.0196527238499375	0.00668	T	0.676632	0.28519	T	0.17132546	0.37759	0.20662768	0.44885	0.16964987	0.37494	0.20347625	0.44425	-4.127	0.25687	T	.	.	0.169	0.37216	B	.	.	3.587977	0.50618	23.0	0.91080902402831332	0.20333	0.91296	0.53248	D	AEFDGBHCI	0.193614	0.32072	N	-0.232783005405335	0.31797	1.78651	-0.0025184900673401	0.39601	2.350584	0.999999999785379	0.74766	0.562547	0.31514	0	0.379588	0.06130	0	0.608884	0.39905	0	0.508809	0.08732	0	.	.	5.17	5.17	0.70848	2.416000	0.44298	8.121000	0.76624	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	12.628	0.55999	10	0.99061	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	959.98	43	chr16	30722724	.	A	G	959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.862e+00;DP=802;ExcessHet=0.0000;FS=4.115;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=-1.541e+00;SOR=0.380	GT:AD:DP:GQ:PL	0/1:40,44:84:99:974,0,1014	20	0	1	0
chr16	32253673	32253673	A	G	exonic	TP53TG3D	.	nonsynonymous SNV	TP53TG3D:NM_001243722:exon1:c.A320G:p.K107R,	.	.	453	1067	2	0	0	2	0.00093633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038	0.0479	0.0015	0	0	1.714e-05	0.0039	0.0001	0.0004226	11	26028	rs750032411	6.86e-07	6.844e-07	0	1.379e-06	2.531e-05	0	0	.	.	0	0	0	2.531e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.37	0.34253	T	-2.25	0.50337	N	0.089	0.06720	.	.	.	.	.	.	.	0.0050709546	0.00110	T	.	.	.	.	.	.	.	0.110392049598	0.10638	4.722776269191555E-4	0.00043	1.9337450126	0.93168	0.541570663452	0.44667	T	.	.	.	-0.659692	0.00063	T	-0.693218	0.06204	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.815798	0.23073	15.88	0.88415351824641508	0.17958	0.01103	0.04044	N	AEFDBCI	0.042937	0.06725	N	.	.	.	.	.	.	0.197150825605327	0.18074	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.195000	0.16960	-1.221000	0.05986	0.233000	0.18164	0.016000	0.19238	0.000000	0.08366	0.018000	0.11154	.	.	.	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1164.06	34	chr16	32253673	.	A	G	1164.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.295e+00;DP=1169;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.024;MQ=46.85;MQRankSum=-1.300e+00;QD=3.31;ReadPosRankSum=-1.142e+00;SOR=0.699	GT:AD:DP:GQ:PL	0/1:272,80:352:99:1178,0,6786	20	0	1	0
chr16	49396590	49396590	C	T	exonic	C16orf78	.	nonsynonymous SNV	C16orf78:NM_144602:exon4:c.C562T:p.R188C,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	2.075	M	0.15	T	-0.413	T	0.357	T	0.714	3.439	17.64	5.29	2.618	2.107	14.790	0.350	0.0466501052965	0.0020	0.000998403	0.0017	0.0003	0.0018	0.0006	0.0008	0.0019	0.0011	0.0028	0.0017529	271	154602	rs140378939	0.0020	0.0020	0.0019	0.0020	0.0026	0.0019	0.0019	0.0022	0.0021	0.0002	0.0016	0.0013	0.0002	0.0002	0.0026	0.0022	0.0014	0.0025	0.0013	0.0013	0.0013	0.0012	0.0025	0.0011	0.0011	0.0018	0.0017	0.0004	0	0.0008	0.0003	0.0006	0.0002	0	0.0021	0	0.0025	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000290	0.46274	D	0.000000	0.999962	0.52935	D	1.845	0.48678	L	0.15	0.60734	T	-5.64	0.86914	D	0.591	0.61087	-0.4135	0.71598	T	0.357	0.71967	T	9	0.020991147	0.00494	T	0.04665	0.62555	D	0.350	0.67142	.	.	0.439870908748	0.43606	0.048175044610577596	0.04760	0.176924702148	0.19905	.	.	.	0.076117	0.35342	T	-0.224413	0.17394	T	-0.0981806	0.63538	T	0.067068022311366	0.08234	T	0.756024	0.37907	T	0.40708116	0.61220	0.36321768	0.61712	0.40708116	0.61221	0.36321768	0.61712	-6.489	0.50201	T	.	.	0.208	0.43462	B	.	.	4.587975	0.72538	25.8	0.99921655047161007	0.98787	0.87857	0.47543	D	AEFBI	0.197126	0.32407	N	0.550022640138323	0.70085	5.449769	0.5032254931692	0.68208	5.188287	0.999996444578621	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	2.150000	0.41878	3.858000	0.40123	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.732000	0.35165	0.0:1.0:0.0:0.0	14.790	0.69455	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1352.98	34	chr16	49396590	.	C	T	1352.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.60;DP=811;ExcessHet=0.0000;FS=1.485;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=0.198;SOR=0.904	GT:AD:DP:GQ:PL	0/1:68,55:123:99:1367,0,1517	20	0	1	0
chr16	50669118	50669118	A	G	exonic	SNX20	.	nonsynonymous SNV	SNX20:NM_153337:exon4:c.T313C:p.Y105H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	.	.	0.68	T	-1.008	T	0.075	T	0.027	-0.551	1.503	-2.28	-0.568	-0.033	2.621	0.056	0.00300890923964	.	.	5.021e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs775853805	4.49e-06	8.904e-06	1.484e-06	7.546e-06	6.413e-05	1.62e-06	1.06e-06	2.473e-05	1.56e-05	0	0	0	0	0	0	9.788e-07	0	6.413e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.68	0.51952	T	0.26	0.04380	N	0.105	0.08925	-1.0079	0.27572	T	0.075	0.30303	T	8	0.046744525	0.03904	T	0.003009	0.06457	T	0.056	0.15993	0.142	0.04556	0.17258766438	0.16869	.	.	.	.	.	.	.	.	.	.	-0.461988	0.00955	T	-0.705088	0.05552	T	0.0242726447613716	0.01180	T	.	.	.	.	.	.	.	.	.	.	.	-1.936	0.02949	T	.	.	.	.	.	.	.	0.168040	0.05572	2.031	0.21305222156409784	0.00806	0.00181	0.01060	N	AEFBHCI	0.018182	0.00532	N	-1.44978341585961	0.02218	0.09771435	-1.5702585569571	0.01840	0.08383224	0.999813033384949	0.43459	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.38	-2.28	0.06438	-0.030000	0.12257	0.108000	0.14741	-2.084000	0.00402	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.435:0.0:0.3459:0.2191	2.621	0.04619	763	0.50172	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	1574.94	129	chr16	50669118	.	A	G	1574.94	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.087e+00;DP=2354;ExcessHet=1.7912;FS=129.128;InbreedingCoeff=-0.1838;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=0.663;SOR=9.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,38:204:99:0|1:50669118_A_G:502,0,5889:50669118	15	0	6	0
chr16	56363997	56363997	G	A	exonic	AMFR	.	nonsynonymous SNV	AMFR:NM_001144:exon13:c.C1708T:p.R570C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.912	D	0.000	D	1.000	D	2.28	M	2.35	T	-1.037	T	0.105	T	0.785	4.601	25.1	4.86	2.676	7.595	13.504	0.331	0.0225487323618	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1419932705	3.42e-06	3.42e-06	1.361e-06	5.5e-06	5.038e-05	1e-06	7.3e-07	8.35e-06	3.12e-06	0	0	0	5.038e-05	0	0	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.891	0.63213	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.93	0.84523	M	2.35	0.16217	T	-4.62	0.79143	D	0.856	0.85238	-1.0367	0.18326	T	0.105	0.38440	T	10	0.5905813	0.66357	D	0.022549	0.45449	T	0.331	0.65325	0.25	0.18757	0.498450045523	0.49481	0.4655193540459423	0.46470	1.60485491865	0.88774	0.86336350441	0.91606	D	0.500061	0.82081	D	-0.0115833	0.50044	T	-0.0852868	0.64515	T	0.998524725437164	0.94393	D	0.974303	0.91165	D	0.5570147	0.70345	0.37632623	0.62757	0.5570147	0.70346	0.37632623	0.62757	-8.132	0.61966	D	.	.	0.813	0.77902	P	.;.	.;.	5.774502	0.93493	33	0.9993376194615391	0.99488	0.94915	0.62772	D	AEFDGBCI	0.946579	0.95617	D	0.809274168854528	0.86682	8.964657	0.776397710707637	0.88109	9.46044	0.999999881481728	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	4.86	4.86	0.62624	7.679000	0.83364	9.883000	0.82214	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.844:0.156	13.504	0.60931	793	0.45818	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2319.98	37	chr16	56363997	.	G	A	2319.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.092;DP=903;ExcessHet=0.0000;FS=2.387;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.26;ReadPosRankSum=1.93;SOR=0.678	GT:AD:DP:GQ:PL	0/1:106,100:206:99:2334,0,2488	20	0	1	0
chr16	57813723	57813723	T	0	exonic	LOC388282	.	.	.	.	.	519	727	164	25	87	301	0.128297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2294.46	37	chr16	57813723	.	T	C,*	2294.46	.	AC=2,2;AF=0.048,0.048;AN=42;BaseQRankSum=0.819;DP=938;ExcessHet=0.6776;FS=1.309;InbreedingCoeff=-0.1053;MLEAC=2,2;MLEAF=0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=6.87;ReadPosRankSum=0.332;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:44,57,0:101:99:.:.:1363,0,1020,1495,1191,2685	17	0	2	0
chr16	57813880	57813880	A	G	exonic	LOC388282	.	nonsynonymous SNV	LOC388282:NM_001278081:exon2:c.A295G:p.R99G,	.	.	522	966	32	2	0	36	0.0182927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00778754	.	.	.	.	.	.	.	.	0.0117181	305	26028	rs144914335	0.0143	0.0084	0.0145	0.0140	0.0206	0.0141	0.0140	0.0188	0.0181	0.0014	0.0030	0.0134	0.0006	0.0069	0.0204	0.0144	0.0164	0.0206	0.0088	0.0088	0.0091	0.0084	0.0206	0.0084	0.0082	0.0173	0.0161	0.0019	0.0329	0.0048	0.0115	0.0002	0.0056	0.0103	0.0137	0.0109	0.0206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	892.98	37	chr16	57813880	.	A	G	892.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.659e+00;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.33;ReadPosRankSum=1.54;SOR=0.635	GT:AD:DP:GQ:PL	0/1:31,36:67:99:907,0,859	20	0	1	0
chr16	66940624	66940624	G	A	exonic	CES2	.	nonsynonymous SNV	CES2:NM_001365405:exon5:c.G745A:p.G249R	.	.	414	1099	9	0	0	9	0.00407793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.009	B	0.02	B	0.179	N	1.000	N	-1.32	N	0.68	T	-0.972	T	0.027	T	0.225	-1.192	0.077	-1.77	-0.108	0.113	5.360	0.071	0.00839481158817	7.7e-05	0.000599042	0.0004	0.0003	0	0	0	0.0001	0	0.0021	0.0003428	53	154602	rs10852434	0.0002	0.0002	0.0001	0.0002	0.0023	0.0002	0.0001	0.0013	0.0013	2.987e-05	0	0	2.519e-05	0	0.0023	7.554e-05	0.0003	0.0016	9.193e-05	9.186e-05	3.855e-05	0.0001	0.0017	5.524e-05	4.362e-05	0.0008	0.0006	2.407e-05	0	0	0	0	0	0	7.351e-05	0	0.0017	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.179065	0.17153	N	0.544061	1	0.08975	N	.	.	.	0.68	0.51952	T	-4.63	0.79229	D	0.182	0.19728	-0.9717	0.36841	T	0.027	0.11529	T	10	0.009138256	0.00207	T	0.008395	0.22206	T	0.071	0.20720	.	.	0.115124310173	0.11017	.	.	0.344274148581	0.36357	0.270970582962	0.06268	T	.	.	.	-0.526736	0.00402	T	-0.548411	0.17478	T	0.0150170097776587	0.00323	T	0.854315	0.55771	D	.	.	.	.	.	.	.	.	-5.621	0.42984	T	.	.	.	.	.	.;.	.;.	0.562517	0.09308	6.092	0.79578755717406935	0.12805	0.07494	0.13510	N	AEFDBCI	0.330502	0.43052	N	-1.52371816423393	0.01695	0.07416131	-1.4388450953808	0.02872	0.1329456	0.998701631374153	0.37498	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.29	-1.77	0.07551	0.031000	0.13598	-1.582000	0.05123	-0.127000	0.13314	0.002000	0.15269	0.000000	0.08366	0.556000	0.30317	0.3068:0.425:0.2682:0.0	5.360	0.15387	138	0.94518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2244.98	36	chr16	66940624	.	G	A	2244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.61;DP=943;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=-9.070e-01;SOR=0.704	GT:AD:DP:GQ:PL	0/1:117,89:206:99:2259,0,2849	20	0	1	0
chr16	67228398	67228398	C	G	exonic	TMEM208	.	nonsynonymous SNV	TMEM208:NM_014187:exon3:c.C146G:p.A49G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.679	P	0.136	B	0.000	D	1.000	D	1.39	L	1.52	T	-1.096	T	0.060	T	0.366	2.071	12.88	5.39	2.528	4.514	15.888	0.079	0.0137786039362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	1.437e-05	0	1.375e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.12632	T	0.342	0.17910	T	0.679	0.41373	P	0.136	0.33270	B	0.000340	0.45700	D	0.193031	0.994158	0.81001	D	1.7	0.43825	L	1.52	0.30669	T	-1.76	0.42191	N	0.539	0.58287	-1.0958	0.04639	T	0.060	0.25237	T	10	0.29794908	0.47354	T	0.013779	0.33440	T	0.079	0.23065	0.457	0.52265	0.0762999501168	0.06990	0.5849071720731794	0.58420	0.288640209993	0.31269	0.727495908737	0.71140	T	0.060991	0.31535	T	-0.105032	0.35590	T	-0.388647	0.34711	T	0.644348740577698	0.38221	D	0.905209	0.66592	D	0.18404564	0.39701	0.18685585	0.41883	0.18404564	0.39700	0.18685585	0.41883	-4.656	0.32867	T	.	.	0.144	0.35951	B	.;.	.;.	3.123735	0.42181	21.5	0.97918489311336776	0.36864	0.96631	0.70114	D	AEFGBHCI	0.849400	0.76622	D	0.248460247980296	0.53561	3.524604	0.366247796533668	0.59493	4.127561	0.99999999987856	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.606735	0.37207	0	0.735409	0.98432	0	.	.	5.39	5.39	0.77615	4.879000	0.62792	5.972000	0.52016	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.888	0.79052	25	0.98345	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1765	123.4	57	chr16	67228398	.	C	G	123.4	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-2.360e+00;DP=1501;ExcessHet=1.7912;FS=113.169;InbreedingCoeff=-0.2184;MLEAC=6;MLEAF=0.176;MQ=60.00;MQRankSum=0.00;QD=0.22;ReadPosRankSum=0.968;SOR=10.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,16:74:31:0|1:67228398_C_G:31,0,1586:67228398	11	0	6	4
chr16	67842923	67842923	-	CAG	exonic	THAP11	.	nonframeshift insertion	THAP11:NM_020457:exon1:c.369_370insCAG:p.Q132_S133insQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8936.32	34	chr16	67842920	.	ACAG	A,ACAGCAG	8936.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=0.124;DP=1180;ExcessHet=0.9430;FS=4.197;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=59.99;MQRankSum=0.00;QD=16.55;ReadPosRankSum=0.922;SOR=1.032	GT:AD:DP:GQ:PL	0/1:22,32,0:54:99:1229,0,798,1295,894,2190	13	1	6	0
chr16	67930008	67930008	C	G	exonic	CTRL	.	nonsynonymous SNV	CTRL:NM_001907:exon7:c.G721C:p.V241L,	.	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.099	B	0.152	B	0.916	N	1.000	N	0.8	N	.	.	-0.987	T	0.090	T	0.319	1.514	11.01	3.74	1.407	-0.274	10.246	0.045	0.0526499499842	.	.	2.471e-05	0	0	0	0	1.498e-05	0	0.0001	1.94e-05	3	154602	rs770518482	1.368e-05	1.368e-05	8.167e-06	1.925e-05	0.0012	8.94e-06	7.26e-06	0.0006	0.0004	0	0	0	0	0	0.0012	8.093e-06	1.656e-05	3.478e-05	1.314e-05	1.312e-05	0	2.687e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	0.338	0.18125	T	0.099	0.25639	B	0.152	0.34249	B	0.916407	0.08518	N	0.956262	1	0.08975	N	-0.23	0.03940	N	-2.37	0.88220	D	.	.	.	0.209	0.23253	-0.9872	0.33298	T	0.090	0.34628	T	9	0.08993843	0.15624	T	0.05265	0.65157	D	.	.	0.377	0.39156	0.882374768104	0.88121	0.4038745025799069	0.40303	0.335138000501	0.35522	0.364680320024	0.20065	T	0.150364	0.48981	T	-0.25568	0.13411	T	-0.402389	0.33106	T	0.116789884865284	0.14113	T	0.80432	0.45191	T	0.19814475	0.41706	0.14077641	0.33547	0.19814475	0.41706	0.14077641	0.33546	-5.805	0.44618	T	.	.	0.346	0.56311	A	.	.	1.896861	0.24095	16.27	0.96805255960920866	0.31165	0.28545	0.23583	N	AEFGBCI	0.142451	0.26489	N	-0.668720216491396	0.16917	0.866111	-0.63182631094252	0.18677	0.9988207	0.999559552849106	0.40362	0.631515	0.41029	0	0.697927	0.68747	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	5.74	3.74	0.42108	-0.374000	0.07541	1.104000	0.24096	0.549000	0.26987	0.000000	0.06391	0.521000	0.25309	0.687000	0.33748	0.0:0.7355:0.0:0.2645	10.246	0.42521	8	0.99202	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1655.98	37	chr16	67930008	.	C	G	1655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=838;ExcessHet=0.0000;FS=1.311;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=-6.430e-01;SOR=0.855	GT:AD:DP:GQ:PL	0/1:80,68:148:99:1670,0,1953	20	0	1	0
chr16	70884028	70884028	C	T	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon59:c.G9871A:p.A3291T,	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	0	1509	12	1	0	14	0.00461741	.	.	2817666	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.76	T	0.004	B	0.011	B	0.005	U	1.000	D	0.345	N	5.63	T	-0.805	T	0.003	T	0.081	3.600	18.33	5.01	1.122	3.453	15.221	0.140	0.012957347058	.	.	0.0011	0.0007	0.0009	0	0.0002	0.0012	0.0046	0.0014	0.0002305	6	26028	rs1798440	0.0010	0.0017	0.0009	0.0012	0.0068	0.0010	0.0010	0.0051	0.0045	0.0003	0.0015	7.653e-05	0	0.0002	0.0068	0.0009	0.0014	0.0030	0.0010	0.0011	0.0010	0.0010	0.0027	0.0009	0.0008	0.0016	0.0013	0.0003	0	0.0009	0	0	0	0.0068	0.0016	0.0014	0.0027	0.801	0.03109	T	.	.	.	.	.	.	.	.	.	0.005375	0.32858	U	0.000000	0.999655	0.20771	N	0.345	0.11182	N	5.63	0.00800	T	-0.25	0.11008	N	0.13	0.12484	-0.8055	0.54819	T	0.003	0.00864	T	10	0.010524392	0.00234	T	0.012957	0.31981	T	0.140	0.37593	.	.	0.0551355673512	0.04727	0.2614032634542387	0.26053	.	.	0.402422636747	0.25406	T	0.023221	0.17762	T	-0.611916	0.00123	T	-0.708099	0.05394	T	0.0182645641596106	0.00546	T	.	.	.	0.063533396	0.13388	0.087894805	0.20460	0.063533396	0.13387	0.087894805	0.20459	-4.103	0.25335	T	.	.	0.069	0.02993	B	.	.	3.327269	0.45789	22.2	0.98914106075082664	0.48436	0.85183	0.44294	D	AEFDBI	0.297328	0.40694	N	-0.578649584082461	0.19593	1.026724	-0.366086567752297	0.26016	1.434331	0.999999999934838	0.74766	0.603402	0.35316	0	0.548873	0.16688	0	0.005938	0.00136	3	0.530356	0.10902	0	.	.	5.01	5.01	0.66477	2.022000	0.40651	6.759000	0.56531	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.1417:0.8583:0.0	15.221	0.72999	519	0.74455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2027.11	120	chr16	70884028	.	C	T	2027.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.41;DP=901;ExcessHet=0.1072;FS=6.335;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=45.86;MQRankSum=-5.924e+00;QD=8.52;ReadPosRankSum=1.48;SOR=1.074	GT:AD:DP:GQ:PL	0/1:78,40:118:99:932,0,1833	19	0	2	0
chr16	74377984	74377984	G	A	exonic	NPIPB15	.	nonsynonymous SNV	NPIPB15:NM_001306094:exon1:c.G11A:p.R4H,	.	.	492	1029	1	0	0	1	0.000485673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	0	N	0.63	T	-1.014	T	0.064	T	0.135	0.520	6.815	.	0.064	0.064	.	0.021	0.00269417765529	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1390034264	0.0005	0.0006	0.0005	0.0005	0.0006	0.0005	0.0004	0.0005	0.0005	0.0001	0.0003	0	0	0.0002	0.0002	0.0006	0.0007	7.108e-05	0.0002	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	7.243e-05	0	0.0003	0	0	9.538e-05	0	0.0004	0.0005	0	0.0	0.91255	D	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.63	0.53088	T	-0.88	0.23808	N	0.104	0.08786	-1.0145	0.25497	T	0.064	0.26632	T	5	0.07224956	0.10759	T	0.002694	0.05521	T	0.021	0.04004	.	.	0.126345400529	0.12197	0.1487937413843244	0.14801	0.266911278005	0.29225	.	.	.	0.019646	0.15616	T	-0.47993	0.00740	T	-0.54015	0.18283	T	0.0244058587554979	0.01196	T	0.381662	0.09243	T	0.06450573	0.13693	0.11788488	0.28456	0.06450573	0.13693	0.11788488	0.28455	-4.038	0.24370	T	.	.	0.343	0.56138	A	.	.	1.355201	0.17631	13.28	0.92694107907948253	0.22184	0.00293	0.01568	N	AEFBI	0.037401	0.05139	N	-0.888973624361404	0.11104	0.5340776	-1.06869483236523	0.08322	0.4086684	2.64181139278013E-5	0.03498	0.581397	0.33459	0	0.78372	0.99691	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	.	.	.	0.064000	0.14310	0.222000	0.16086	0.061000	0.17545	0.116000	0.23103	0.000000	0.08366	0.116000	0.19000	.	.	.	687	0.59234	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	394.98	33	chr16	74377984	.	G	A	394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.040e-01;DP=766;ExcessHet=0.0000;FS=2.189;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=42.88;MQRankSum=0.956;QD=5.20;ReadPosRankSum=-8.260e-01;SOR=0.427	GT:AD:DP:GQ:PL	0/1:53,23:76:99:409,0,1220	20	0	1	0
chr16	81156981	81156981	C	A	exonic	PKD1L2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs970239304	6.842e-07	1.368e-06	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1810.98	35	chr16	81156981	.	C	A	1810.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.098;DP=1027;ExcessHet=0.0000;FS=1.365;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=0.592;SOR=0.544	GT:AD:DP:GQ:PL	0/1:71,69:140:99:1825,0,1828	20	0	1	0
chr16	82000021	82000021	T	C	exonic	SDR42E1	.	nonsynonymous SNV	SDR42E1:NM_145168:exon3:c.A272G:p.N91S,	.	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.006	B	0.02	B	0.000	D	1.000	N	1.155	L	-2.41	D	-0.678	T	0.343	T	0.014	0.447	6.427	4.94	1.098	4.280	11.555	0.239	.	0.0044	0.00459265	0.0020	0.0146	0.0029	0.0001	0.0003	0.0009	0.0022	0.0002	0.0019146	296	154602	rs79313103	0.0012	0.0012	0.0012	0.0011	0.0181	0.0011	0.0011	0.0169	0.0165	0.0181	0.0033	0.0055	2.519e-05	0.0003	0.0066	0.0005	0.0030	0.0001	0.0057	0.0057	0.0060	0.0054	0.0160	0.0054	0.0053	0.0150	0.0146	0.0160	0	0.0073	0.0072	0	0.0004	0.0102	0.0007	0.0071	0	0.139	0.33091	T	0.275	0.22016	T	0.006	0.13644	B	0.02	0.19048	B	0.000080	0.52346	D	0.225487	0.999905	0.19694	N	1.885	0.50048	L	-2.41	0.88533	D	-1.91	0.47175	N	0.062	0.03392	-0.6782	0.61455	T	0.343	0.70843	T	10	0.0069989264	0.00159	T	.	.	.	0.239	0.54358	.	.	0.364730456448	0.36084	0.5958075380053698	0.59510	0.0114236664784	0.01068	0.317947089672	0.13110	T	0.208635	0.56862	T	-0.485443	0.00688	T	-0.455145	0.27130	T	0.0153251652716049	0.00340	T	0.756924	0.38041	T	0.09818314	0.23154	0.11784837	0.28449	0.09818314	0.23154	0.11784837	0.28448	-7.161	0.55201	T	.	.	0.113	0.28778	B	.;.	.;.	1.363034	0.17722	13.33	0.69502512600294497	0.08993	0.90864	0.52405	D	AEFBI	0.599152	0.59228	D	-0.624253367961302	0.18218	0.9440396	-0.526098963487115	0.21445	1.160176	0.99898592575635	0.38135	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	6.03	4.94	0.64645	4.260000	0.58633	2.880000	0.35323	-0.723000	0.03784	1.000000	0.71638	0.859000	0.27469	0.013000	0.09966	0.0:0.0694:0.0:0.9306	11.555	0.49995	934	0.15400	3-beta hydroxysteroid dehydrogenase/isomerase;3-beta hydroxysteroid dehydrogenase/isomerase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2129.98	41	chr16	82000021	.	T	C	2129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=921;ExcessHet=0.0000;FS=0.528;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.54;ReadPosRankSum=1.31;SOR=0.616	GT:AD:DP:GQ:PL	0/1:122,80:202:99:2144,0,3358	20	0	1	0
chr16	83961068	83961068	C	G	exonic	OSGIN1	.	nonsynonymous SNV	OSGIN1:NM_182981:exon5:c.C484G:p.R162G,	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.031	B	0.019	B	0.001	N	0.731	N	2.305	M	1.99	T	-1.053	T	0.046	T	0.581	2.342	13.79	-0.579	0.297	1.652	4.135	0.138	0.0353753578095	7.7e-05	0.000599042	0.0003	9.758e-05	0.0003	0	0	0.0003	0	0.0005	0.0002329	36	154602	rs147759145	0.0002	0.0002	0.0001	0.0002	0.0026	0.0001	0.0001	0.0016	0.0013	2.988e-05	0.0005	0	0	0	0.0026	0.0001	0.0003	0.0004	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.697e-05	0.0001	9.897e-05	4.814e-05	0	0.0003	0	0	0	0.0068	0.0002	0.0009	0.0002	0.113	0.32769	T	0.096	0.65728	T	0.031	0.20130	B	0.019	0.18783	B	0.001152	0.40056	N	0.200428	0.730881	0.29831	N	2.71	0.79292	M	1.99	0.49358	T	-3.72	0.70793	D	0.634	0.64733	-1.0529	0.13601	T	0.046	0.19680	T	10	0.1428105	0.27121	T	0.035375	0.56304	D	0.138	0.37187	.	.	0.581788271231	0.57850	0.40161305084241133	0.40077	0.159160048467	0.17961	0.351295232773	0.18113	T	0.122288	0.44585	T	-0.308161	0.07911	T	-0.321847	0.42372	T	0.115228168114154	0.13958	T	0.819918	0.47811	T	0.1909952	0.40708	0.17862082	0.40543	0.1909952	0.40708	0.17862082	0.40542	.	.	.	.	.	0.139	0.30344	B	.;.;.;.	.;.;.;.	2.893184	0.38319	20.7	0.99478206886139098	0.66741	0.89270	0.49634	D	AEFBCI	0.692799	0.65234	D	-0.319537072846592	0.28407	1.566543	-0.287786972846428	0.28500	1.58955	0.769432950252865	0.23646	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.53	-0.579	0.11133	1.681000	0.37234	-0.114000	0.11796	0.544000	0.25403	1.000000	0.71638	0.002000	0.18203	0.988000	0.63387	0.532:0.2446:0.0:0.2234	4.135	0.09634	912	0.21483	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	839.98	36	chr16	83961068	.	C	G	839.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.50;DP=842;ExcessHet=0.0000;FS=4.746;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=0.604;SOR=1.302	GT:AD:DP:GQ:PL	0/1:40,33:73:99:854,0,897	20	0	1	0
chr16	88436039	88436039	G	C	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G8569C:p.V2857L,	Brittle cornea syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.005	B	0.006	B	.	.	1.000	N	0.55	N	0.93	T	-1.033	T	0.051	T	0.09	-0.010	3.964	-3.42	-0.624	-0.269	1.749	0.047	0.290819134338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.642e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.15930	T	0.198	0.27767	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.93	0.44065	T	-0.88	0.23808	N	0.098	0.07949	-1.0330	0.19490	T	0.051	0.21572	T	9	0.033857733	0.01574	T	0.290819	0.90557	D	0.047	0.12962	0.062	0.00241	0.0482279557977	0.04254	0.05778466525355656	0.05719	.	.	0.34829890728	0.17672	T	0.013528	0.11682	T	-0.315388	0.07282	T	-0.69081	0.06343	T	0.0342345647513866	0.02677	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.38480	B	.;.	.;.	-0.302853	0.02606	0.323	0.36900263803691985	0.02400	0.09517	0.15255	N	AEFDBI	0.090526	0.18343	N	-1.38570647527791	0.02771	0.1228472	-1.41714451955664	0.03080	0.1429999	0.813156251799272	0.24391	0.646311	0.45356	0	0.547309	0.14657	0	0.578056	0.29568	0	0.699875	0.68795	0	.	.	5.28	-3.42	0.04521	-0.197000	0.09519	-0.427000	0.09246	-0.673000	0.04287	0.000000	0.06391	0.000000	0.08366	0.162000	0.20715	0.4266:0.2183:0.232:0.1232	1.749	0.02789	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	851.14	104	chr16	88436039	.	G	C	851.14	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.850e+00;DP=2947;ExcessHet=1.7912;FS=169.057;InbreedingCoeff=-0.1947;MLEAC=6;MLEAF=0.150;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=1.04;SOR=12.397	GT:AD:DP:GQ:PL	0/1:145,60:209:99:104,0,2410	14	0	6	1
chr16	88681634	88681634	C	T	exonic	SNAI3	.	nonsynonymous SNV	SNAI3:NM_178310:exon2:c.G157A:p.G53S,	.	.	414	1096	10	2	0	14	0.00634633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.003	B	0.001	B	0.280	N	1.000	N	0.145	N	3.55	T	-0.925	T	0.008	T	0.053	0.751	7.979	-3.9	-0.323	-0.820	4.378	0.007	0.0042864543378	0.0002	0.000998403	0.0006	0.0001	0.0002	0	0	0.0007	0	0.0025	0.0005239	81	154602	rs45506693	0.0005	0.0005	0.0004	0.0006	0.0038	0.0005	0.0005	0.0034	0.0033	0.0001	0.0003	0.0068	0	0	0.0035	0.0002	0.0011	0.0038	0.0004	0.0004	0.0004	0.0004	0.0023	0.0003	0.0003	0.0013	0.0010	7.229e-05	0	0.0001	0.0066	0.0002	0	0.0170	0.0002	0.0005	0.0023	0.439	0.09291	T	0.501	0.11153	T	0.003	0.11197	B	0.001	0.04355	B	0.279685	0.03825	N	1.426480	1	0.08975	N	0.42	0.12520	N	3.55	0.04746	T	0.69	0.02195	N	0.085	0.06190	-0.9248	0.44886	T	0.008	0.02884	T	10	0.0032294095	0.00055	T	0.004286	0.10373	T	0.007	0.00512	.	.	0.0551355673512	0.04727	.	.	0.082201812116	0.09269	0.301113814116	0.10568	T	0.00812	0.07471	T	-0.745142	0.00019	T	-0.844595	0.01032	T	0.00284892537892234	0.00030	T	0.307569	0.05925	T	0.04210917	0.06324	0.037326425	0.03361	0.04210917	0.06324	0.037326425	0.03361	-3.416	0.15273	T	.	.	0.131	0.28203	B	.	.	-0.738204	0.01235	0.063	0.70291109780015038	0.09248	0.01800	0.05617	N	AEFDGBCI	0.045810	0.07534	N	-1.37615950517131	0.02862	0.1270242	-1.42634773366858	0.02991	0.1386766	0.999999948961246	0.74766	0.695654	0.57023	0	0.52208	0.09955	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.45	-3.9	0.03904	-0.687000	0.05257	-2.245000	0.04004	-2.889000	0.00164	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2485:0.2825:0.0:0.469	4.378	0.10714	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1478.98	36	chr16	88681634	.	C	T	1478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.364e+00;DP=804;ExcessHet=0.0000;FS=2.830;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.90;ReadPosRankSum=-5.070e-01;SOR=1.034	GT:AD:DP:GQ:PL	0/1:34,59:93:99:1493,0,805	20	0	1	0
chr16	88738601	88738601	G	A	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon6:c.C601T:p.R201W,	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2406063	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.893	P	.	.	0.995	N	1.04	L	-0.7	T	-0.690	T	0.347	T	0.583	2.540	14.45	2.21	1.037	0.379	10.535	0.018	0.80390158877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs924417840	1.012e-05	9.577e-06	1.284e-05	7.326e-06	1.298e-05	5.87e-06	4.6e-06	7.53e-06	5.89e-06	0	0	0	0	0	0	1.298e-05	0	0	1.971e-05	1.97e-05	1.285e-05	2.69e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.002	0.72154	D	0.001	0.83351	D	0.999	0.77913	D	0.893	0.63340	P	.	.	.	.	1	0.08975	N	2.52	0.73523	M	-0.7	0.72785	T	-4.45	0.77717	D	0.425	0.46462	-0.6898	0.60917	T	0.347	0.71139	T	9	0.5815054	0.65875	D	0.803902	0.98467	D	0.315	0.63694	0.511	0.60846	0.147330786459	0.14319	0.5459875984122878	0.54524	.	.	0.677153468132	0.63861	T	0.05326	0.29392	T	-0.0643909	0.42219	T	-0.207725	0.53911	T	0.813929975032806	0.47328	D	0.911709	0.68653	D	0.082206085	0.18926	0.1220075	0.29434	0.082206085	0.18926	0.1220075	0.29433	-8.036	0.61316	D	0.3541450005149689	0.45112	0.211	0.43855	B	.	.	3.560540	0.50099	22.9	0.99808323238403629	0.89264	0.15034	0.18711	N	AEFDGBHCI	0.224766	0.34895	N	-0.265148779335271	0.30504	1.701451	-0.458470048160821	0.23309	1.270444	0.999886889062437	0.44867	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.4	2.21	0.27042	0.341000	0.19652	3.361000	0.37860	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.017000	0.10941	0.0:0.0:0.407:0.593	10.535	0.44187	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1690.98	67	chr16	88738601	.	G	A	1690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=1043;ExcessHet=0.0000;FS=6.991;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=0.552;SOR=0.917	GT:AD:DP:GQ:PL	0/1:56,64:120:99:1705,0,1249	20	0	1	0
chr16	89284803	89284803	G	T	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.C1739A:p.S580Y	KBG syndrome, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	1985251	KBG_syndrome|ANKRD11-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.993	D	0.93	D	0.000	D	1.000	D	1.78	L	1.06	T	-0.701	T	0.240	T	0.328	4.250	22.1	5.71	2.698	9.539	19.858	0.162	0.0134972880804	.	0.000798722	0.0003	0	0.0002	0	0	0	0.0011	0.0018	0.0002329	36	154602	rs558841201	0.0001	0.0001	6.4e-05	0.0002	0.0015	9.605e-05	9.085e-05	0.0013	0.0012	0	6.708e-05	0	2.519e-05	0	0	1.619e-05	9.937e-05	0.0015	9.851e-05	9.843e-05	5.141e-05	0.0001	0.0027	6.003e-05	4.877e-05	0.0016	0.0013	0	0	0	0	0	0	0	2.94e-05	0	0.0027	0.027	0.46513	D	0.04	0.50809	D	0.99	0.63424	D	0.93	0.66466	D	0.000072	0.52346	D	0.133336	0.99999	0.58761	D	2.36	0.67893	M	1.06	0.39781	T	-1.92	0.44657	N	0.292	0.36884	-0.7008	0.60400	T	0.240	0.60786	T	10	0.018541723	0.00404	T	0.013497	0.32951	T	0.162	0.41843	.	.	0.432376951215	0.42856	0.03655477030974885	0.03602	0.507641427205	0.48948	0.436457514763	0.30093	T	0.346234	0.71452	T	-0.371916	0.03498	T	-0.326022	0.41911	T	0.118299045115531	0.14263	T	0.90161	0.72135	D	0.08996656	0.21038	0.14408644	0.34221	0.08996656	0.21037	0.14408644	0.34220	-6.241	0.48253	T	0.6416260921973818	0.71243	0.284	0.51677	B	.;.;.;.	.;.;.;.	4.578855	0.72309	25.8	0.99438133506160253	0.64621	0.99663	0.98459	D	AEFBI	0.900914	0.84701	D	0.811258682681992	0.86807	9.00482	0.820142241450326	0.91157	10.74679	0.999999999999938	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	9.809000	0.98265	10.016000	0.83115	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.858	0.96765	819	0.41190	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	6887.98	39	chr16	89284803	.	G	T	6887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.247e+00;DP=1176;ExcessHet=0.0000;FS=2.887;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-8.820e-01;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,177:336:99:0|1:89284803_G_T:6902,0,6045:89284803	20	0	1	0
chr16	89284807	89284807	A	C	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.T1735G:p.Y579D	KBG syndrome, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	1985255	KBG_syndrome|ANKRD11-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.861	P	0.332	B	0.017	N	1.000	D	1.905	M	0.57	T	-0.821	T	0.164	T	0.228	1.982	12.59	4.62	0.996	6.029	12.879	0.216	0.0390153422399	7.7e-05	0.000798722	0.0003	0	0.0002	0	0	1.509e-05	0.0011	0.0018	0.0002393	37	154602	rs143817649	9.716e-05	9.713e-05	5.31e-05	0.0001	0.0015	8.378e-05	7.917e-05	0.0013	0.0012	0	6.708e-05	0	2.519e-05	0	0	0	9.937e-05	0.0015	9.194e-05	9.186e-05	6.425e-05	0.0001	0.0027	5.525e-05	4.363e-05	0.0016	0.0013	0	0	0	0	0	0	0	1.47e-05	0	0.0027	0.021	0.49117	D	0.041	0.50514	D	0.861	0.47410	P	0.255	0.39216	B	0.016717	0.27907	N	0.404697	0.992415	0.23886	N	1.83	0.48079	L	0.57	0.54347	T	-4.53	0.78388	D	0.211	0.27197	-0.8209	0.53877	T	0.164	0.50176	T	10	0.012940437	0.00276	T	0.039015	0.58564	D	0.216	0.50959	.	.	0.507183065869	0.50357	0.009267961277944286	0.00889	0.15656143693	0.17672	0.343484222889	0.16958	T	0.632227	0.88616	D	-0.416858	0.01792	T	-0.390579	0.34483	T	0.154561912960215	0.17460	T	0.787321	0.50455	T	0.361094	0.57919	0.33581716	0.59391	0.361094	0.57920	0.33581716	0.59391	-3.453	0.15780	T	0.305932088963912	0.40358	0.143	0.44253	B	.;.;.;.	.;.;.;.	2.876895	0.38057	20.6	0.97728423976764089	0.35604	0.96820	0.71115	D	AEFBI	0.643077	0.61982	D	0.158602105487135	0.49220	3.124837	0.141614290531222	0.46701	2.911731	0.999627683760598	0.41093	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.71	4.62	0.56946	6.141000	0.71499	3.809000	0.39901	0.740000	0.86194	1.000000	0.71638	0.868000	0.27561	0.987000	0.62547	0.8575:0.1425:0.0:0.0	12.879	0.57398	819	0.41190	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	6900.98	39	chr16	89284807	.	A	C	6900.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.094e+00;DP=1177;ExcessHet=0.0000;FS=2.891;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.54;ReadPosRankSum=-8.160e-01;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,178:336:99:0|1:89284803_G_T:6915,0,6012:89284803	20	0	1	0
chr17	532865	532865	T	C	exonic	VPS53	.	nonsynonymous SNV	VPS53:NM_018289:exon18:c.A1975G:p.I659V	Pontocerebellar hypoplasia, type 2E, Autosomal recessive	.	433	1068	20	1	0	22	0.0101946	.	.	363728	Pontocerebellar_hypoplasia_type_2E|Microcephaly|not_provided	MONDO:MONDO:0014370,MedGen:C4014488,OMIM:615851,Orphanet:247198|Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.47	T	0.019	B	0.034	B	0.000	D	1.000	D	1.04	L	1.4	T	-1.045	T	0.099	T	0.271	2.045	12.79	5.08	1.920	3.916	14.019	0.036	.	0.0009	0.00519169	0.0035	0.0005	0.0030	0.0100	0	0.0014	0.0068	0.0124	0.0031824	492	154602	rs140376049	0.0018	0.0018	0.0016	0.0021	0.0108	0.0018	0.0018	0.0102	0.0100	0.0002	0.0029	0.0039	0.0050	0.0002	0.0104	0.0010	0.0026	0.0108	0.0018	0.0018	0.0016	0.0020	0.0137	0.0016	0.0016	0.0110	0.0101	0.0004	0	0.0033	0.0052	0.0068	9.423e-05	0.0102	0.0012	0.0024	0.0137	0.436	0.16683	T	0.525	0.14725	T	0.004	0.17989	B	0.011	0.22546	B	0.000005	0.62929	D	0.103872	0.999995	0.81001	D	1.025	0.25523	L	1.4	0.50459	T	-0.37	0.15178	N	0.344	0.43995	-1.0448	0.15884	T	0.099	0.36856	T	10	0.009616137	0.00217	T	.	.	.	0.036	0.09122	.	.	0.232513804876	0.22884	0.27455534500255907	0.27368	0.288955871697	0.31300	0.591659486294	0.51728	T	0.106667	0.41820	T	-0.465481	0.00908	T	-0.430376	0.29894	T	0.00606719036809914	0.00067	T	.	.	.	0.09081424	0.21262	0.14843798	0.35088	0.09562082	0.22507	0.14770514	0.34943	-6.417	0.49642	T	.	.	0.077	0.06803	B	.;.;.;.	.;.;.;.	2.567707	0.33263	19.29	0.98519920318753362	0.42447	0.96055	0.67329	D	AEFBI	0.580715	0.58101	D	-0.175878687463541	0.34142	1.945147	0.0143875825731752	0.40381	2.409062	0.99651892825105	0.34798	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	3.898000	0.55993	4.168000	0.42254	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.0:1.0	14.019	0.64063	630	0.65016	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	2204.11	78	chr17	532865	.	T	C	2204.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.224e+00;DP=813;ExcessHet=0.1072;FS=0.604;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=-5.090e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/1:31,49:80:99:1082,0,767	19	0	2	0
chr17	1280318	1280318	T	C	exonic	TRARG1	.	nonsynonymous SNV	TRARG1:NM_172367:exon1:c.T317C:p.I106T,	.	.	423	1046	52	1	0	54	0.0251631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.982	D	0.824	P	0.002	U	0.973	D	2.295	M	-2.1	D	0.435	D	0.651	D	0.555	3.303	17.10	5.28	2.022	3.761	14.073	0.588	.	0.0051	0.00459265	0.0058	0.0009	0.0034	0.0001	0.0050	0.0064	0.0067	0.0112	0.0055303	855	154602	rs72816260	0.0064	0.0065	0.0062	0.0067	0.0140	0.0063	0.0063	0.0116	0.0107	0.0012	0.0039	0.0130	7.557e-05	0.0060	0.0140	0.0064	0.0061	0.0111	0.0048	0.0048	0.0049	0.0046	0.0091	0.0045	0.0044	0.0070	0.0062	0.0009	0	0.0065	0.0104	0	0.0051	0.0102	0.0065	0.0062	0.0091	0.008	0.58626	D	0.016	0.60972	D	0.982	0.60036	D	0.824	0.59271	P	0.001998	0.37503	U	0.222837	0.972507	0.38951	D	.	.	.	-2.1	0.86146	D	-3.13	0.63901	D	0.384	0.42541	0.435	0.89617	D	0.651	0.87858	D	10	0.012856871	0.00275	T	.	.	.	0.588	0.83526	.	.	0.791203403945	0.78926	0.5864292845124088	0.58572	0.21833863742	0.24371	0.412896454334	0.26858	T	0.507187	0.82504	D	-0.239099	0.15463	T	-0.105837	0.62940	T	0.0186277200697479	0.00576	T	0.877312	0.59062	D	0.18854955	0.40359	0.23169023	0.48308	0.18854955	0.40359	0.23169023	0.48307	-5.291	0.39854	T	.	.	0.505	0.64812	A	.	.	2.846925	0.37579	20.5	0.99590476354603696	0.73572	0.96637	0.70145	D	AEFDBI	0.407650	0.47964	N	0.552698642946284	0.70248	5.473546	0.525390792262153	0.69703	5.398457	0.996565219762624	0.34833	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.28	5.28	0.74118	2.076000	0.41172	5.066000	0.47133	0.587000	0.30956	0.999000	0.42656	1.000000	0.68203	0.253000	0.23340	0.0:0.0:0.0:1.0	14.073	0.64397	710	0.56735	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2032.98	35	chr17	1280318	.	T	C	2032.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.138e+00;DP=983;ExcessHet=0.0000;FS=2.737;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=1.10;SOR=0.933	GT:AD:DP:GQ:PL	0/1:79,87:166:99:2047,0,1877	20	0	1	0
chr17	3688065	3688065	G	A	exonic	P2RX5	.	nonsynonymous SNV	P2RX5:NM_001204520:exon8:c.C856T:p.R286C	.	.	407	1102	13	0	0	13	0.00586378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.53	H	2.52	T	-0.726	T	0.147	T	0.988	4.678	25.8	5.11	2.549	6.141	12.947	0.384	.	0.0011	0.00159744	0.0028	0.0011	0.0007	0	0.0018	0.0020	0.0035	0.0101	0.0017076	264	154602	rs146166049	0.0015	0.0015	0.0012	0.0017	0.0089	0.0014	0.0014	0.0083	0.0081	0.0003	0.0001	0.0097	0	0.0007	0.0028	0.0009	0.0021	0.0089	0.0011	0.0012	0.0010	0.0014	0.0065	0.0010	0.0010	0.0047	0.0041	0.0006	0.0363	0.0002	0.0069	0	0	0.0034	0.0007	0.0029	0.0065	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.62	0.93917	H	2.52	0.14160	T	-7.64	0.96191	D	0.966	0.97643	-0.7256	0.59184	T	0.147	0.47255	T	10	0.051166207	0.04956	T	.	.	.	0.613	0.84879	.	.	0.632280709065	0.62926	0.7920684377447199	0.79158	0.711518779709	0.61734	0.557567834854	0.46924	T	0.306456	0.67866	T	-0.0841587	0.39037	T	0.111885	0.77698	D	0.194286555534692	0.20094	T	0.989301	0.96450	D	0.8894982	0.90464	0.6084017	0.77227	0.8894982	0.90465	0.6084017	0.77228	-10.728	0.78145	D	.	.	0.946	0.89449	P	.;.;.;.;.;.	.;.;.;.;.;.	5.029618	0.83645	28.1	0.9993925872729118	0.99734	0.94299	0.60725	D	AEFDGBCI	0.885052	0.81524	D	0.882374075683285	0.90870	10.60467	0.794715931242121	0.89424	9.968994	0.997540685214884	0.35740	0.839682	0.99964	0	0.643519	0.57511	0	0.736553	0.94036	0	0.620976	0.48614	0	.	.	5.11	5.11	0.69188	4.980000	0.63533	11.793000	0.96431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.463000	0.28185	0.0:0.0:0.8381:0.1619	12.947	0.57776	830	0.39242	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2168.11	39	chr17	3688065	.	G	A	2168.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.06;DP=948;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=1.72;SOR=0.665	GT:AD:DP:GQ:PL	0/1:62,55:117:99:1238,0,1335	19	0	2	0
chr17	4672208	4672210	TCC	-	exonic	PELP1	.	nonframeshift deletion	PELP1:NM_014389:exon16:c.2781_2783del:p.E930del	.	.	343	1175	4	0	0	4	0.00169924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.00199681	0.0012	0.0018	0.0092	0.0015	0	0.0010	0.0047	0.0008	0.0001537	4	26028	rs536642900	0.0010	0.0010	0.0010	0.0010	0.0075	0.0009	0.0009	0.0057	0.0050	0.0010	0.0016	0.0015	0.0019	0.0005	0.0075	0.0009	0.0009	0.0013	0.0012	0.0012	0.0012	0.0011	0.0037	0.0010	0.0010	0.0024	0.0020	0.0017	0	0.0007	0.0012	0.0037	0.0003	0	0.0008	0.0019	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	850.94	45	chr17	4672207	.	TTCC	T	850.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.750e+00;DP=841;ExcessHet=0.0000;FS=2.388;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.69;ReadPosRankSum=1.48;SOR=0.869	GT:AD:DP:GQ:PL	0/1:28,23:51:99:865,0,985	20	0	1	0
chr17	4892467	4892467	C	T	exonic	MINK1	.	nonsynonymous SNV	MINK1:NM_001024937:exon18:c.C2093T:p.P698L	.	.	398	1123	0	1	0	2	0.00088968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.673	P	0.373	B	0.021	N	1.000	D	0.55	N	-0.8	T	-0.494	T	0.263	T	0.284	3.294	17.07	5.1	2.651	0.672	13.878	0.154	0.0666847153902	.	.	.	.	.	.	.	.	.	.	.	.	.	rs758013494	7.074e-07	6.84e-07	1.399e-06	0	2.734e-05	0	0	.	.	0	0	0	2.734e-05	0	0	0	0	0	1.315e-05	1.313e-05	0	2.692e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.01	0.56456	D	0.091	0.40110	T	0.544	0.41222	P	0.206	0.43650	B	0.020860	0.26953	N	0.321070	0.989986	0.81001	D	0.69	0.16971	N	-0.8	0.74053	T	-1.05	0.27463	N	0.351	0.39254	-0.4941	0.68861	T	0.263	0.63426	T	10	0.20135257	0.36215	T	0.066685	0.69947	D	0.154	0.40340	.	.	0.515658035153	0.51206	0.2153854651633728	0.21454	0.166182025418	0.18754	0.565559744835	0.48051	T	0.040701	0.25615	T	-0.0345478	0.46752	T	-0.287402	0.46042	T	0.616253793239594	0.37053	D	0.914509	0.69499	D	0.0821009	0.18898	0.0758876	0.16754	0.0821009	0.18898	0.0758876	0.16754	-5.139	0.39064	T	.	.	0.069	0.08657	B	.;.	.;.	3.741175	0.53572	23.4	0.99774708045192639	0.86260	0.52407	0.29124	D	AEFBCI	0.199372	0.32618	N	0.137428487835915	0.48216	3.036841	0.258611344770927	0.53139	3.484504	0.999944862872278	0.47345	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.1	5.1	0.68917	2.359000	0.43797	5.907000	0.50968	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	13.878	0.63168	250	0.90192	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1359.98	46	chr17	4892467	.	C	T	1359.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.649;DP=924;ExcessHet=0.0000;FS=4.314;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.62;ReadPosRankSum=-3.000e-01;SOR=1.124	GT:AD:DP:GQ:PL	0/1:71,57:128:99:1374,0,1751	20	0	1	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	36673.09	217	chr17	4933907	.	ACCACCCCAGAGCCCAC	A,*	36673.09	.	AC=11,22;AF=0.262,0.524;AN=42;BaseQRankSum=-2.218e+00;DP=3857;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0101;MLEAC=11,22;MLEAF=0.262,0.524;MQ=59.64;MQRankSum=0.207;QD=13.33;ReadPosRankSum=0.579;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:26,0,21:47:99:0|1:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:762,841,1786,0,945,832:4933876	1	2	3	0
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	3830.01	217	chr17	4933915	.	A	*,G	3830.01	.	AC=30,4;AF=0.750,0.100;AN=40;BaseQRankSum=1.91;DP=3710;ExcessHet=0.5418;FS=1.062;InbreedingCoeff=-0.0551;MLEAC=31,4;MLEAF=0.775,0.100;MQ=59.65;MQRankSum=0.00;QD=1.56;ReadPosRankSum=0.309;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,21,26:47:99:1|0:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:3572,878,847,1049,0,745:4933876	0	10	6	1
chr17	4955082	4955082	A	G	exonic	ENO3	.	nonsynonymous SNV	ENO3:NM_001193503:exon5:c.A323G:p.N108S	.	.	0	1521	0	1	0	2	0.00065703	.	.	345098	not_provided|Glycogen_storage_disease_due_to_muscle_beta-enolase_deficiency	MedGen:CN517202|MONDO:MONDO:0013046,MedGen:C2752027,OMIM:612932,Orphanet:99849	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.61	P	0.417	B	0.000	D	1.000	D	3.135	M	1.16	T	-0.283	T	0.325	T	0.332	4.265	22.3	5.7	2.184	9.339	13.951	0.820	0.197166405268	.	.	5.854e-05	0	8.726e-05	0	0	6.085e-05	0	0.0001	5.17e-05	8	154602	rs560867570	6.775e-05	6.772e-05	6.536e-05	7.017e-05	0.0001	5.672e-05	5.263e-05	6.247e-05	4.967e-05	5.975e-05	0.0001	0	5.04e-05	5.655e-05	0	6.656e-05	4.969e-05	0.0001	5.918e-05	5.912e-05	2.571e-05	9.424e-05	0.0002	3.079e-05	2.212e-05	4.766e-05	3.34e-05	0	0	0	0	0	9.436e-05	0	0.0001	0	0.0002	0.001	0.78490	D	0.034	0.53072	D	0.066	0.23586	B	0.166	0.35067	B	0.000001	0.84330	D	0.093758	1	0.81001	D	3.185	0.88900	M	0.14	0.60854	T	-4.47	0.79399	D	0.942	0.97095	-0.2831	0.75456	T	0.325	0.69358	T	10	0.9407934	0.93405	D	0.197166	0.86522	D	0.820	0.94238	0.905	0.97985	0.855266797399	0.85386	0.7395718772671426	0.73902	0.152353913493	0.17194	0.715498685837	0.69391	T	0.246032	0.85080	T	-0.111979	0.34441	T	-0.195972	0.55029	T	0.473863154649734	0.31672	T	0.874613	0.61095	D	0.82427406	0.85509	0.73314023	0.84230	0.78655624	0.83060	0.72227484	0.83600	-13.652	0.91871	D	0.5348243852972169	0.60523	0.856	0.85993	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.353309	0.66884	25.0	0.99859196954258789	0.93820	0.98282	0.81233	D	AEFBI	0.931404	0.92018	D	0.508175692315531	0.67573	5.099549	0.578837568759923	0.73427	5.968321	0.999999999995524	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.7	5.7	0.88690	9.325000	0.96006	11.283000	0.91806	-0.046000	0.17342	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	1.0:0.0:0.0:0.0	13.951	0.63628	507	0.75469	Enolase, C-terminal TIM barrel domain;Enolase, C-terminal TIM barrel domain|Enolase, C-terminal TIM barrel domain;Enolase, C-terminal TIM barrel domain|Enolase, C-terminal TIM barrel domain;Enolase, C-terminal TIM barrel domain|Enolase, C-terminal TIM barrel domain;.;.;Enolase, C-terminal TIM barrel domain|Enolase, C-terminal TIM barrel domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	614.98	33	chr17	4955082	.	A	G	614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.300e-01;DP=749;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-1.810e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/1:27,22:49:99:629,0,804	20	0	1	0
chr17	5148648	5148648	A	G	exonic	USP6	.	nonsynonymous SNV	USP6:NM_004505:exon22:c.A2524G:p.N842D	.	.	434	1087	0	1	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.998	D	0.991	D	0.000	D	1.000	D	0.925	L	2.95	T	-1.106	T	0.049	T	0.19	2.735	15.11	2.79	1.281	5.399	9.044	0.101	0.00510930226789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	4.084e-06	0	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.17353	T	0.197	0.27855	T	0.992	0.64738	D	0.911	0.64720	D	0.000000	0.84330	D	0.085136	0.961994	0.81001	D	1.955	0.52871	M	2.95	0.09635	T	-1.11	0.28703	N	0.428	0.46742	-1.1059	0.03447	T	0.049	0.21065	T	10	0.34758297	0.51690	T	0.005109	0.12970	T	0.101	0.28911	0.397	0.42426	0.433491693731	0.42969	0.43208448044902825	0.43125	0.327635261049	0.34895	0.62331533432	0.56198	T	0.019876	0.15755	T	-0.207039	0.19797	T	-0.535174	0.18773	T	0.844736099243164	0.49718	D	0.935706	0.75920	D	0.15131202	0.34404	0.20129746	0.44104	0.15131202	0.34404	0.20129746	0.44103	-3.791	0.20670	T	.	.	0.168	0.36947	B	.;.	.;.	4.236159	0.64195	24.7	0.99448158393742359	0.65122	0.91600	0.53868	D	AEFBI	0.655147	0.62758	D	0.151548404535942	0.48885	3.095337	0.0714547553507699	0.43120	2.620437	0.0329471915224461	0.14080	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.59522	0.37078	0	.	.	2.79	2.79	0.31792	5.428000	0.66226	9.337000	0.80183	0.361000	0.20101	1.000000	0.71638	1.000000	0.68203	0.774000	0.36673	1.0:0.0:0.0:0.0	9.044	0.35500	632	0.64850	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5108.98	33	chr17	5148648	.	A	G	5108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.591e+00;DP=1132;ExcessHet=0.0000;FS=1.092;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.57;MQRankSum=0.102;QD=12.43;ReadPosRankSum=-5.690e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/1:197,214:411:99:5123,0,4794	20	0	1	0
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.554	P	0.802	P	0.001	D	0.604	N	2.585	M	3.56	T	-1.117	T	0.046	T	0.639	4.235	22.0	2.75	0.471	1.653	10.030	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3330.64	69	chr17	6800775	.	C	G,T	3330.64	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-2.445e+00;DP=2964;ExcessHet=7.7275;FS=201.373;InbreedingCoeff=-0.4528;MLEAC=11,1;MLEAF=0.324,0.029;MQ=60.00;MQRankSum=0.00;QD=2.01;ReadPosRankSum=1.28;SOR=12.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:109,84,0:193:99:.:.:783,0,1439,1078,1667,2745	6	0	10	4
chr17	6800775	6800775	C	T	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021A:p.V341I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.112	B	0.341	B	0.001	N	0.837	N	1.89	L	3.53	T	-1.084	T	0.031	T	0.091	3.174	16.62	2.75	0.471	1.653	10.030	0.067	0.00715835594955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.081	0.41742	T	0.112	0.26290	B	0.341	0.42432	B	0.000902	0.41128	N	0.246339	0.836835	0.28685	N	2.085	0.57729	M	3.53	0.04852	T	-0.93	0.24898	N	0.185	0.20129	-1.0839	0.06609	T	0.031	0.13199	T	10	0.22078857	0.38785	T	0.007158	0.18979	T	0.067	0.19503	0.712	0.84781	0.148003135375	0.14442	0.3112784524375874	0.31040	0.154972287805	0.17502	0.400090247393	0.25082	T	0.025988	0.19322	T	-0.29632	0.09012	T	-0.663419	0.08038	T	0.66377192735672	0.39061	D	0.726327	0.34071	T	0.10866317	0.25691	0.13250326	0.31794	0.10866317	0.25691	0.13250326	0.31794	-5.762	0.44242	T	.	.	0.090	0.12512	B	.	.	2.315459	0.29642	18.19	0.99362639271959785	0.61071	0.80189	0.39893	D	AEFDBHCI	0.113020	0.22317	N	-0.0799309812297689	0.38272	2.239086	-0.0159644293184332	0.38992	2.305383	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3330.64	69	chr17	6800775	.	C	G,T	3330.64	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-2.445e+00;DP=2964;ExcessHet=7.7275;FS=201.373;InbreedingCoeff=-0.4528;MLEAC=11,1;MLEAF=0.324,0.029;MQ=60.00;MQRankSum=0.00;QD=2.01;ReadPosRankSum=1.28;SOR=12.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:109,84,0:193:99:.:.:783,0,1439,1078,1667,2745	6	0	10	4
chr17	7513182	7513202	TCACCCAGCTATTCGCCAACG	-	exonic	POLR2A	.	nonframeshift deletion	POLR2A:NM_000937:exon29:c.4918_4938del:p.S1740_P1746del,	.	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs766964491	2.962e-05	2.873e-05	2.447e-05	3.486e-05	0.0001	2.168e-05	1.924e-05	3.6e-05	2.183e-05	0	0.0001	0	0	0	0	2.516e-05	9.087e-05	4.806e-05	8.073e-05	0.0001	6.566e-05	9.656e-05	0.0002	4.597e-05	3.591e-05	1.988e-05	1.135e-05	5.004e-05	0.0011	6.71e-05	0	0	0	0.0075	5.951e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2782.07	33	chr17	7513181	.	ATCACCCAGCTATTCGCCAACG	A	2782.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.41;DP=1481;ExcessHet=0.1072;FS=3.030;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.99;MQRankSum=0.00;QD=5.63;ReadPosRankSum=0.932;SOR=0.930	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,61:265:99:0|1:7513181_ATCACCCAGCTATTCGCCAACG_A:1365,0,8253:7513181	19	0	2	0
chr17	7513349	7513349	-	TCTCCCAGCTACTCGCCGACA	exonic	POLR2A	.	nonframeshift insertion	POLR2A:NM_000937:exon29:c.5085_5086insTCTCCCAGCTACTCGCCGACA:p.P1746_N1747insSYSPTSP,	.	.	478	1040	1	0	3	4	0.000480538	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.011e-05	0.0001	3.89e-05	4.134e-05	0.0007	3.091e-05	2.77e-05	0.0002	9.991e-05	4.17e-05	3.375e-05	0	0	0	0.0007	3.534e-05	0.0001	5.138e-05	6.784e-05	0.0001	1.869e-05	0.0001	0.0002	3.114e-05	2.208e-05	3.305e-05	1.359e-05	3.891e-05	0	0.0002	0	0	0	0.0179	4.057e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	15018.07	198	chr17	7513349	.	G	GTCTCCCAGCTACTCGCCGACA	15018.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.294;DP=3659;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.96;MQRankSum=0.00;QD=31.82;ReadPosRankSum=5.04;SOR=0.629	GT:AD:DP:GQ:PL	0/1:216,65:282:99:8472,0,8171	19	0	2	0
chr17	7768033	7768033	G	A	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon23:c.G3809A:p.R1270H,	.	.	430	1071	21	0	0	21	0.00970874	.	.	3208312	DNAH2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.08	T	0.995	D	0.909	D	0.002	N	1.000	D	1.92	M	0.11	T	-0.472	T	0.254	T	0.475	3.875	19.69	4.27	1.929	2.251	15.463	0.356	.	0.0013	0.00319489	0.0051	9.634e-05	0.0003	0.0001	0.0166	0.0030	0.0121	0.0173	0.0043855	678	154602	rs141149043	0.0029	0.0029	0.0024	0.0034	0.0185	0.0028	0.0028	0.0178	0.0175	0.0003	0.0007	0.0097	7.557e-05	0.0119	0.0076	0.0013	0.0033	0.0185	0.0028	0.0028	0.0020	0.0036	0.0178	0.0026	0.0025	0.0148	0.0137	0.0002	0	0.0010	0.0058	0.0002	0.0139	0	0.0021	0.0024	0.0178	0.009	0.57480	D	.	.	.	0.995	0.67487	D	0.909	0.64565	D	0.001517	0.38793	N	0.160409	0.994347	0.42247	D	2.215	0.62545	M	0.11	0.61208	T	-3.17	0.64363	D	0.481	0.51583	-0.4725	0.69637	T	0.254	0.62417	T	10	0.014341354	0.00302	T	.	.	.	0.356	0.67691	.	.	0.620183206235	0.61710	0.3107758234507111	0.30990	1.02590431471	0.75273	0.471004635096	0.34819	T	0.374196	0.73804	T	-0.357406	0.04279	T	-0.271229	0.47694	T	0.0492212625266031	0.05363	T	0.843016	0.51993	T	0.32281244	0.54876	0.2963498	0.55667	0.32281244	0.54876	0.2963498	0.55666	-5.303	0.39973	T	.	.	0.102	0.17911	B	.;.	.;.	4.797356	0.77915	26.8	0.99954289304848509	0.99963	0.72654	0.35554	D	AEFGBI	0.148482	0.27238	N	0.475716336435347	0.65675	4.852478	0.429223987255424	0.63391	4.572144	3.60856463058229E-4	0.06668	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.27	4.27	0.50009	2.811000	0.47685	7.577000	0.60860	0.618000	0.50648	0.989000	0.36753	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	15.463	0.75106	230	0.91032	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4211.11	33	chr17	7768033	.	G	A	4211.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.618;DP=994;ExcessHet=0.1072;FS=2.913;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=2.45;SOR=0.602	GT:AD:DP:GQ:PL	0/1:82,93:175:99:2282,0,1856	19	0	2	0
chr17	7794327	7794327	G	A	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon49:c.G7643A:p.R2548H,	.	.	415	1100	7	0	0	7	0.00317173	.	.	2814858	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.947	P	0.708	P	0.000	D	1.000	D	0.13	N	-0.2	T	-0.921	T	0.129	T	0.868	4.892	28.1	5.83	2.769	5.638	18.890	0.402	0.0111905193113	0.0054	0.00399361	0.0046	0.0009	0.0024	0	0.0031	0.0067	0.0033	0.0029	0.004877	754	154602	rs11656500	0.0066	0.0066	0.0067	0.0064	0.0077	0.0064	0.0064	0.0076	0.0075	0.0012	0.0026	0.0023	2.559e-05	0.0027	0.0010	0.0077	0.0053	0.0039	0.0047	0.0047	0.0045	0.0049	0.0075	0.0045	0.0043	0.0069	0.0067	0.0014	0.0351	0.0048	0.0012	0	0.0020	0.0034	0.0075	0.0043	0.0031	0.065	0.36310	T	.	.	.	0.947	0.53479	P	0.708	0.54437	P	0.000013	0.62929	D	0.061409	0.999987	0.54805	D	-0.225	0.03956	N	-0.2	0.66113	T	-3.3	0.65858	D	0.4	0.44090	-0.9207	0.45458	T	0.129	0.43867	T	10	0.013890773	0.00293	T	0.011191	0.28559	T	0.402	0.71558	.	.	0.570543898189	0.56720	0.5127155948399713	0.51193	0.494379623259	0.47999	0.728341758251	0.71264	T	0.204485	0.56327	T	-0.101338	0.36203	T	0.0910532	0.76316	D	0.0292887383514319	0.01882	T	0.957304	0.83911	D	0.28714183	0.51726	0.23465924	0.48688	0.28714183	0.51726	0.23465924	0.48687	-8.041	0.61350	D	.	.	0.182	0.39562	B	.;.	.;.	4.981156	0.82510	27.8	0.99932708923725766	0.99439	0.96575	0.69827	D	AEFDBI	0.690709	0.65095	D	0.282876258352769	0.55279	3.692153	0.41244457907558	0.62339	4.447709	0.999075035344742	0.38370	0.616025	0.39624	0	0.59043	0.45803	0	0.574621	0.27300	0	0.530356	0.10902	0	.	.	5.83	5.83	0.93059	5.548000	0.66963	11.782000	0.96139	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	18.890	0.92366	343	0.85802	AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1482.98	39	chr17	7794327	.	G	A	1482.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.775;DP=811;ExcessHet=0.0000;FS=2.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.68;ReadPosRankSum=1.16;SOR=0.809	GT:AD:DP:GQ:PL	0/1:44,57:101:99:1497,0,1004	20	0	1	0
chr17	7846696	7846696	C	G	exonic	KDM6B	.	nonsynonymous SNV	KDM6B:NM_001080424:exon8:c.C667G:p.L223V	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.994	D	0.826	P	0.011	N	0.796	D	0	N	1.27	T	-0.933	T	0.088	T	0.222	2.004	12.66	5.14	2.571	1.825	14.477	0.111	0.00440140864798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.154	0.32040	T	0.994	0.66517	D	0.826	0.59373	P	0.010673	0.29831	N	0.164918	0.795513	0.34443	D	0.55	0.14455	N	1.27	0.36146	T	-0.53	0.16393	N	0.372	0.42149	-0.9329	0.43710	T	0.088	0.33913	T	10	0.16152346	0.30295	T	0.004401	0.10749	T	0.111	0.31313	0.075	0.00517	0.202312658747	0.19855	0.20461270163651943	0.20378	0.116468510547	0.13138	0.506724238396	0.39765	T	0.050416	0.28589	T	-0.151698	0.28045	T	-0.45568	0.27070	T	0.398148417472839	0.28872	T	0.763424	0.38984	T	0.21033978	0.43327	0.16635798	0.38436	0.21033978	0.43327	0.16635798	0.38436	-5.056	0.37442	T	.	.	0.074	0.09530	B	.;.;.	.;.;.	2.287987	0.29260	18.07	0.96014300269725572	0.28454	0.95277	0.64098	D	AEFBI	0.203198	0.32973	N	0.320756620001231	0.57216	3.888031	0.391527923753059	0.61043	4.298923	0.999998668482264	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.14	5.14	0.70008	1.397000	0.34152	3.245000	0.36991	0.596000	0.33519	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	14.477	0.67136	298	0.88068	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2035.98	56	chr17	7846696	.	C	G	2035.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.498e+00;DP=1168;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=-1.265e+00;SOR=0.660	GT:AD:DP:GQ:PL	0/1:70,89:159:99:2050,0,1656	20	0	1	0
chr17	7846865	7846865	-	ACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACC:p.P264_L265insPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,80,0,0,0,0:80:99:3552,238,0,3554,241,3556,3554,241,3556,3556,3554,241,3556,3556,3556,3554,241,3556,3556,3556,3556	0	14	0	0
chr17	7846865	7846865	-	ACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACC:p.P264_L265insPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,80,0,0,0,0:80:99:3552,238,0,3554,241,3556,3554,241,3556,3556,3554,241,3556,3556,3556,3554,241,3556,3556,3556,3556	0	14	0	0
chr17	7846865	7846865	-	ACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACC:p.P264_L265insP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,80,0,0,0,0:80:99:3552,238,0,3554,241,3556,3554,241,3556,3556,3554,241,3556,3556,3556,3554,241,3556,3556,3556,3556	0	14	0	0
chr17	7846865	7846865	-	ACCACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACCACC:p.P264_L265insPPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,80,0,0,0,0:80:99:3552,238,0,3554,241,3556,3554,241,3556,3556,3554,241,3556,3556,3556,3554,241,3556,3556,3556,3556	0	14	0	0
chr17	8144961	8144961	C	G	exonic	PER1	.	nonsynonymous SNV	PER1:NM_002616:exon18:c.G2251C:p.A751P,	.	.	.	.	.	.	.	.	.	.	.	2358925	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.41	T	0.002	B	0.001	B	0.026	N	0.809	D	0.14	N	2.52	T	-1.060	T	0.038	T	0.275	1.629	11.40	2.71	1.274	0.640	5.179	0.038	0.00544868209844	.	.	3.981e-05	0	9.124e-05	0	0	5.131e-05	0	0	3.23e-05	5	154602	rs778368752	2.585e-05	2.668e-05	2.028e-05	3.165e-05	0.0008	1.877e-05	1.661e-05	0.0002	0.0001	0	6.898e-05	0	0	0	0.0008	2.547e-05	1.794e-05	2.891e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.227	0.19293	T	0.239	0.33109	T	0.002	0.09854	B	0.001	0.04355	B	0.026195	0.25961	N	0.400197	0.809244	0.34618	D	0.43	0.12624	N	2.52	0.38073	T	-0.71	0.20145	N	0.176	0.18920	-1.0597	0.11830	T	0.038	0.16333	T	10	0.06619358	0.09042	T	0.005449	0.14015	T	0.038	0.09825	.	.	0.043077524339	0.03247	.	.	0.174452631906	0.19643	0.48183965683	0.36310	T	0.071454	0.34211	T	-0.207229	0.19771	T	-0.535446	0.18746	T	0.0540080927312374	0.06191	T	0.732927	0.34859	T	0.14229576	0.32752	0.10368049	0.24883	0.14229576	0.32752	0.10368049	0.24883	-4.868	0.35373	T	.	.	0.055	0.00563	B	.;.;.;.	.;.;.;.	1.612545	0.20604	14.83	0.98856051221510743	0.47390	0.51169	0.28833	D	AEFBCI	0.266431	0.38335	N	-0.495933822229983	0.22214	1.18453	-0.327117211265654	0.27226	1.509278	0.951453027715528	0.27958	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.85	2.71	0.31092	-0.078000	0.11338	1.197000	0.24809	0.599000	0.40250	0.001000	0.13787	0.830000	0.27205	0.994000	0.71098	0.0:0.6505:0.2316:0.1179	5.179	0.14477	303	0.87825	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1770.98	102	chr17	8144961	.	C	G	1770.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.930e-01;DP=2016;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=0.811;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,73:170:99:0|1:8144961_C_G:1785,0,3773:8144961	20	0	1	0
chr17	8149597	8149597	C	T	exonic	PER1	.	nonsynonymous SNV	PER1:NM_002616:exon6:c.G718A:p.V240I,	.	.	410	1102	10	0	0	10	0.00451671	.	.	727565	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.029	B	0.013	B	0.254	N	1.000	N	0.345	N	2.67	T	-1.024	T	0.026	T	0.043	-0.061	3.702	-8.48	-1.150	-0.273	11.762	0.019	.	0.0049	0.00259585	0.0043	0.0011	0.0027	0	0.0003	0.0067	0.0045	0.0020	0.0044954	695	154602	rs74795714	0.0057	0.0057	0.0056	0.0057	0.0066	0.0056	0.0055	0.0065	0.0064	0.0008	0.0040	0.0065	0	0.0008	0.0031	0.0066	0.0044	0.0027	0.0042	0.0042	0.0045	0.0039	0.0072	0.0039	0.0038	0.0066	0.0064	0.0007	0	0.0046	0.0032	0	0.0013	0.0102	0.0072	0.0076	0.0019	0.443	0.10412	T	0.241	0.24334	T	0.029	0.19866	B	0.013	0.16460	B	0.253721	0.15456	N	0.670897	1	0.08975	N	0.69	0.16971	N	2.67	0.35960	T	-0.13	0.09460	N	0.114	0.10198	-1.0242	0.22344	T	0.026	0.11131	T	10	0.007104814	0.00162	T	.	.	.	0.019	0.03383	.	.	0.147330786459	0.14319	.	.	0.106249982341	0.12016	0.28054112196	0.07567	T	0.109207	0.42288	T	-0.669413	0.00055	T	-0.730197	0.04318	T	0.00271622591116476	0.00028	T	0.559344	0.28234	T	0.020158	0.00565	0.028824672	0.01156	0.020158	0.00564	0.028824672	0.01156	-6.165	0.47639	T	.	.	0.066	0.05623	B	.;.;.	.;.;.	-0.148903	0.03360	0.597	0.8573706713813477	0.16080	0.09460	0.15211	N	AEFBCI	0.089305	0.18101	N	-1.66099788880046	0.00989	0.0428954	-1.72274035109285	0.01040	0.04668455	0.999934501669828	0.46732	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.55	-8.48	0.00815	-0.237000	0.09007	-3.577000	0.02683	-1.577000	0.00925	0.000000	0.06391	0.000000	0.08366	0.147000	0.20199	0.0:0.676:0.1582:0.1658	11.762	0.51177	306	0.87689	PAS domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1393.98	43	chr17	8149597	.	C	T	1393.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.70;DP=918;ExcessHet=0.0000;FS=0.725;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=-5.320e-01;SOR=0.566	GT:AD:DP:GQ:PL	0/1:55,53:108:99:1408,0,1258	20	0	1	0
chr17	11781087	11781087	T	C	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon39:c.T7631C:p.I2544T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.704	P	0.734	P	0.000	D	1.000	D	3.855	H	0.59	T	0.104	D	0.436	T	0.892	4.289	22.4	5.08	2.043	7.961	15.136	0.631	0.0428854227346	.	.	8.352e-06	0	0	0	0	0	0	6.138e-05	6.5e-06	1	154602	rs779447925	6.225e-05	6.225e-05	6.942e-05	5.5e-05	0.0002	5.161e-05	4.78e-05	5.51e-05	5.025e-05	0	8.944e-05	0	0	0	0.0002	6.745e-05	0.0001	2.319e-05	3.942e-05	3.94e-05	5.138e-05	2.689e-05	0.0002	1.715e-05	1.129e-05	1.972e-05	1.124e-05	2.412e-05	0	0	0	0.0002	0	0	5.879e-05	0	0	0.001	0.78490	D	.	.	.	0.704	0.41950	P	0.734	0.55432	P	0.000231	0.47286	D	0.132915	0.997334	0.43805	D	4.08	0.97210	H	0.59	0.53943	T	-4.43	0.78388	D	0.928	0.93723	0.104	0.84249	D	0.436	0.77587	T	10	0.9042655	0.89790	D	0.042885	0.60697	D	0.631	0.85821	.	.	0.897428870944	0.89641	0.8206603414836466	0.82023	0.282013640996	0.30668	0.693015933037	0.66139	T	0.296755	0.66938	T	0.156413	0.69867	D	0.183872	0.82219	D	0.979246199131012	0.72732	D	0.983602	0.94423	D	0.89359057	0.90817	0.84077895	0.90890	0.89359057	0.90818	0.84077895	0.90890	-11.88	0.84261	D	.	.	0.568	0.67560	P	.;.	.;.	4.775397	0.77344	26.7	0.99848911863881362	0.92838	0.97229	0.73454	D	AEFBI	0.921272	0.89450	D	0.787708207357552	0.85331	8.544076	0.737012801544465	0.85184	8.505332	0.999965406376401	0.48965	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	8.001000	0.88013	7.803000	0.69204	0.640000	0.52149	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.136	0.72244	878	0.29785	AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1531.98	35	chr17	11781087	.	T	C	1531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.800e-02;DP=824;ExcessHet=0.0000;FS=2.362;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=0.277;SOR=0.564	GT:AD:DP:GQ:PL	0/1:53,63:116:99:1546,0,1260	20	0	1	0
chr17	14207082	14207082	G	A	exonic	COX10	.	nonsynonymous SNV	COX10:NM_001303:exon7:c.G1201A:p.V401M,	Leigh syndrome due to mitochondrial COX4 deficiency, Autosomal recessive, Mitochondrial;Mitochondrial complex IV deficiency, Autosomal recessive, Mitochondrial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.73	P	0.154	B	0.291	N	0.999	N	0.55	N	-3.06	D	-0.356	T	0.482	T	0.106	2.153	13.16	-4.52	-0.533	-0.150	5.854	0.195	0.0418566088704	7.7e-05	.	1.654e-05	9.664e-05	0	0	0	1.507e-05	0	0	1.29e-05	2	154602	rs372982577	1.437e-05	1.505e-05	9.53e-06	1.925e-05	0.0002	9.23e-06	7.84e-06	1.093e-05	8.81e-06	0	0	0	0	0	0.0002	1.709e-05	0	1.159e-05	3.285e-05	3.283e-05	5.138e-05	1.345e-05	7.236e-05	1.261e-05	7.98e-06	1.919e-05	1.032e-05	7.236e-05	0	6.543e-05	0	0	0	0	0	0.0005	0	0.119	0.28026	T	0.023	0.57104	D	0.094	0.25382	B	0.008	0.13708	B	0.290888	0.03894	N	1.468930	0.999984	0.18878	N	-0.125	0.04555	N	-3.06	0.92457	D	1.16	0.01136	N	0.05	0.02179	-0.3560	0.73380	T	0.482	0.80205	T	10	0.05300647	0.05424	T	0.041857	0.60153	D	0.195	0.47612	.	.	0.322284741503	0.31843	0.4938141890294266	0.49302	0.262480154688	0.28810	0.266569375992	0.05698	T	0.325349	0.69607	T	-0.218549	0.18190	T	-0.370179	0.36869	T	0.0903848307184259	0.11263	T	0.527447	0.17405	T	0.029385326	0.02424	0.050219346	0.07836	0.029385326	0.02424	0.050219346	0.07835	-2.627	0.06711	T	0.11080120999038127	0.09404	0.082	0.08754	B	.	.	0.650335	0.10185	6.928	0.97947658184886066	0.37078	0.07064	0.13090	N	AEFDBCI	0.040990	0.06172	N	-0.879075934411398	0.11342	0.5468065	-0.947359535377273	0.10984	0.5568083	0.165247786311232	0.17654	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.79	-4.52	0.03227	-0.141000	0.10308	-2.693000	0.03460	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.772000	0.36596	0.4128:0.3906:0.1966:0.0	5.854	0.17957	941	0.13089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2588.98	47	chr17	14207082	.	G	A	2588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.430e-01;DP=1014;ExcessHet=0.0000;FS=1.003;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.92;ReadPosRankSum=-1.368e+00;SOR=0.788	GT:AD:DP:GQ:PL	0/1:120,117:237:99:2603,0,2726	20	0	1	0
chr17	15738743	15738743	G	T	exonic	TBC1D26	.	nonsynonymous SNV	TBC1D26:NM_178571:exon8:c.G410T:p.R137M,	.	.	420	1071	29	2	0	33	0.0151724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.986	D	0.811	U	1.000	N	2.57	M	1.34	T	-0.884	T	0.189	T	0.323	1.019	9.162	-2.89	-0.585	-0.947	5.239	0.053	0.00300793216827	0.0036	0.00279553	0.0048	0.0014	0.0052	0	0.0051	0.0052	0.01	0.0073	0.0002846	44	154602	rs200599059	0.0045	0.0046	0.0043	0.0047	0.0115	0.0044	0.0044	0.0092	0.0084	0.0007	0.0035	0.0057	2.519e-05	0.0047	0.0115	0.0045	0.0046	0.0080	0.0036	0.0036	0.0034	0.0038	0.0083	0.0033	0.0032	0.0063	0.0055	0.0010	0	0.0048	0.0058	0	0.0034	0.0204	0.0048	0.0024	0.0083	0.056	0.38185	T	0.005	0.72224	D	1.0	0.90584	D	0.981	0.76916	D	0.811425	0.06830	U	1.143400	1	0.08975	N	2.305	0.65957	M	1.34	0.34841	T	-4.52	0.78302	D	0.25	0.31925	-0.8839	0.49448	T	0.189	0.54019	T	10	0.008189052	0.00186	T	0.003008	0.06457	T	0.053	0.14996	.	.	0.283761946502	0.27984	0.1447487754314169	0.14397	3.50374879105	0.99750	0.374598145485	0.21488	T	0.025945	0.19300	T	-0.509024	0.00508	T	-0.498686	0.22484	T	0.0571589763682511	0.06715	T	0.715328	0.35508	T	0.20950828	0.43220	0.28097957	0.54077	0.20950828	0.43219	0.28097957	0.54076	-4.518	0.43479	T	.	.	0.218	0.44809	B	.;.;.	.;.;.	1.291697	0.16929	12.85	0.89938657323165594	0.19236	0.00244	0.01352	N	AEFGI	0.044614	0.07199	N	-0.472508272218424	0.22984	1.231116	-0.852455980394181	0.13229	0.6850969	1.92644233888728E-5	0.02871	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.44	-2.89	0.05326	-0.806000	0.04632	-0.367000	0.09633	0.350000	0.19923	0.000000	0.06391	0.000000	0.08366	0.117000	0.19042	0.0:0.0:0.4793:0.5207	5.239	0.14780	725	0.54935	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	6446.68	35	chr17	15738743	.	G	T	6446.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.76;DP=1250;ExcessHet=0.3300;FS=3.245;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=47.07;MQRankSum=-6.547e+00;QD=11.55;ReadPosRankSum=-8.360e-01;SOR=0.951	GT:AD:DP:GQ:PL	0/1:90,95:185:99:2503,0,2233	18	0	3	0
chr17	16353372	16353372	G	C	exonic	CENPV	.	nonsynonymous SNV	CENPV:NM_181716:exon1:c.C65G:p.A22G,	.	.	493	451	356	217	5	795	0.466903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.002	B	0.018	N	0.995	P	.	.	.	.	-1.045	T	0.000	T	0.13	-0.711	0.937	-5.31	-0.962	-0.654	7.385	0.005	0.0196258658988	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs149829221	7.149e-05	0.0003	7.417e-05	6.858e-05	0.0004	5.819e-05	5.381e-05	9.822e-05	5.577e-05	0	0.0004	0	0.0002	0	0	7.546e-05	2.353e-05	0	0.0001	0.0002	0.0002	0.0001	0.0004	9.954e-05	8.437e-05	0.0001	9.132e-05	7.305e-05	0	6.661e-05	0	0.0004	0.0001	0.0034	0.0002	0	0.0002	0.561	0.06361	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.018135	0.01481	N	4.295950	1	0.23375	P	.	.	.	.	.	.	0.16	0.05217	N	0.077	0.05162	-1.0452	0.15767	T	0.000	0.00011	T	7	0.019916922	0.00451	T	0.019626	0.42042	T	0.005	0.00259	.	.	0.0884992946249	0.08302	0.0786799102888714	0.07802	1.08031386052	0.77120	0.761266052723	0.76117	T	.	.	.	-0.513494	0.00480	T	-0.57513	0.14982	T	0.0382244026170994	0.03372	T	0.321768	0.06536	T	.	.	.	.	.	.	.	.	-4.474	0.30547	T	.	.	0.062	0.01367	B	.	.	0.600789	0.09695	6.463	0.46967313541535144	0.03803	0.01035	0.03875	N	AEFDGBHCI	0.040505	0.06034	N	-1.72508104807624	0.00756	0.03267343	-1.84943526281674	0.00613	0.02726113	0.99999999998593	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	2.66	-5.31	0.02519	0.072000	0.14482	-2.522000	0.03652	0.272000	0.18543	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.3102:0.4876:0.2022	7.385	0.26048	688	0.59122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	6610.61	16	chr17	16353372	.	G	GCGGAGGCCC,C	6610.61	.	AC=23,1;AF=0.548,0.024;AN=42;BaseQRankSum=0.00;DP=327;ExcessHet=0.2438;FS=3.230;InbreedingCoeff=0.2106;MLEAC=23,1;MLEAF=0.548,0.024;MQ=60.00;MQRankSum=0.00;QD=28.25;ReadPosRankSum=0.231;SOR=0.929	GT:AD:DP:GQ:PL	1/1:0,7,0:7:21:314,21,0,315,21,315	5	7	8	0
chr17	17793782	17793782	-	CAG	exonic	RAI1	.	nonframeshift insertion	RAI1:NM_030665:exon3:c.834_835insCAG:p.Q291_A292insQ,	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8476.07	194	chr17	17793779	.	CCAG	C,CCAGCAG	8476.07	.	AC=7,2;AF=0.167,0.048;AN=42;BaseQRankSum=0.190;DP=4672;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.3035;MLEAC=7,2;MLEAF=0.167,0.048;MQ=60.00;MQRankSum=0.00;QD=4.69;ReadPosRankSum=0.870;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:180,33,2:220:99:.:.:713,0,7000,1223,6793,8124	12	0	7	0
chr17	28959147	28959147	T	A	exonic	SEZ6	.	nonsynonymous SNV	SEZ6:NM_001098635:exon10:c.A1985T:p.Y662F	.	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.996	D	0.877	P	0.000	D	1.000	D	0.885	L	2.29	T	-1.119	T	0.052	T	0.448	3.604	18.35	4.82	2.164	4.939	8.081	0.189	0.007707941295	.	0.00159744	0.0009	0.0001	0	0	0	0	0.0023	0.0065	0.0007568	117	154602	rs374943299	0.0004	0.0004	0.0002	0.0006	0.0065	0.0004	0.0004	0.0060	0.0059	5.974e-05	0	0	0	0	0.0005	8.095e-06	0.0005	0.0065	0.0002	0.0002	7.71e-05	0.0003	0.0062	0.0002	0.0001	0.0045	0.0039	2.407e-05	0	0	0	0	0	0	0	0.0005	0.0062	0.419	0.09866	T	0.175	0.30339	T	0.996	0.68779	D	0.877	0.62241	P	0.000007	0.62929	D	0.000000	0.999324	0.81001	D	0.825	0.20901	L	2.29	0.17113	T	-2.15	0.48687	N	0.494	0.52740	-1.1185	0.02428	T	0.052	0.21999	T	10	0.011517078	0.00251	T	0.007708	0.20457	T	0.189	0.46613	0.678	0.81594	0.460438652622	0.45667	0.33188800359192644	0.33101	0.81317789327	0.66827	0.648118019104	0.59719	T	0.013957	0.32963	T	-0.45781	0.01014	T	-0.426104	0.30377	T	0.0734362730087474	0.09124	T	0.893711	0.66542	D	0.17100511	0.37708	0.08246202	0.18822	0.14914078	0.34014	0.10063566	0.24068	-8.857	0.66771	D	.	.	0.083	0.11797	B	.;.;.;.;.	.;.;.;.;.	4.700876	0.75423	26.3	0.98514131179259834	0.42386	0.95705	0.65805	D	AEFDBI	0.687980	0.64914	D	0.408046504631829	0.61862	4.393378	0.443484859860204	0.64301	4.682004	0.988393243178997	0.31502	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.82	4.82	0.61641	4.903000	0.62964	4.057000	0.41556	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.1801:0.0:0.0:0.8199	8.081	0.29908	298	0.88068	.;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	2132.98	34	chr17	28959147	.	T	A	2132.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.900e-01;DP=853;ExcessHet=0.0000;FS=0.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=0.074;SOR=0.762	GT:AD:DP:GQ:PL	0/1:73,84:157:99:2147,0,1975	20	0	1	0
chr17	30984696	30984696	G	T	exonic	RNF135	.	nonsynonymous SNV	RNF135:NM_001184992:exon2:c.G452T:p.S151I	Macrocephaly, macrosomia, facial dysmorphism syndrome	.	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.994	D	0.906	P	0.198	N	1.000	N	1.445	L	2.74	T	-0.943	T	0.177	T	0.231	2.177	13.24	-1.49	-0.201	-0.376	3.442	0.029	0.0112535201732	.	.	9.061e-05	0	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs752465174	4.036e-05	4.036e-05	1.906e-05	6.188e-05	0.0006	3.179e-05	2.91e-05	0.0005	0.0005	0	0	0	0	0	0	8.993e-07	4.968e-05	0.0006	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.126	0.72154	T	0.394	0.74150	T	0.766	0.43754	P	0.174	0.35540	B	0.197673	0.16681	N	0.579457	1	0.08975	N	1.975	0.53506	M	0.38	0.57575	T	-2.56	0.60827	D	0.24	0.29889	-0.9431	0.42121	T	0.177	0.52272	T	10	0.052444637	0.05281	T	0.011254	0.28682	T	0.029	0.06676	0.454	0.51775	0.588172243141	0.58492	0.217097590336127	0.21625	0.11347962357	0.12810	0.351956903934	0.18210	T	0.016946	0.13909	T	-0.391962	0.02613	T	-0.421308	0.30924	T	0.450849503278732	0.30828	T	0.526647	0.17353	T	0.07461978	0.16757	0.06598007	0.13452	0.07461978	0.16757	0.06598007	0.13451	-5.267	0.39615	T	.	.	0.095	0.41768	B	.;.;.	.;.;.	0.990963	0.13692	10.23	0.9845052054349428	0.41620	0.02066	0.06159	N	AEFBI	0.044585	0.07190	N	-0.485768745372145	0.22546	1.204656	-0.658909711171073	0.17992	0.9591807	0.00316404807542801	0.09966	0.736574	0.97449	0	0.709663	0.81188	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.02	-1.49	0.08259	-0.309000	0.08185	0.113000	0.14809	0.662000	0.56354	0.002000	0.15269	0.002000	0.18203	0.984000	0.60418	0.4012:0.0:0.422:0.1768	3.442	0.07038	704	0.57414	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	620.98	33	chr17	30984696	.	G	T	620.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.158e+00;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.06;ReadPosRankSum=2.34;SOR=0.602	GT:AD:DP:GQ:PL	0/1:45,32:77:99:635,0,1154	20	0	1	0
chr17	31998960	31998960	G	A	exonic	SUZ12	.	nonsynonymous SNV	SUZ12:NM_001321207:exon15:c.G2108A:p.S703N	.	.	429	1083	10	0	0	10	0.00459559	.	.	3185523	SUZ12-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.0	B	0.247	N	0.998	N	0	N	0.85	T	-1.026	T	0.064	T	0.008	1.470	10.86	2.35	0.741	2.040	8.958	0.136	0.0047783526095	0.0011	0.000798722	0.0012	0.0004	0.0003	0	0.0005	0.0016	0.0012	0.0014	0.0010802	167	154602	rs140801412	0.0015	0.0015	0.0015	0.0015	0.0028	0.0014	0.0014	0.0018	0.0015	0.0002	0.0003	0.0070	0.0002	0.0003	0.0028	0.0016	0.0016	0.0010	0.0009	0.0009	0.0011	0.0007	0.0015	0.0008	0.0007	0.0011	0.0010	0.0004	0	0.0003	0.0052	0	0.0003	0	0.0013	0.0005	0.0015	0.056	0.38185	T	0.167	0.32783	T	0.0	0.02946	B	0.0	0.01387	B	0.247166	0.15587	N	0.626869	0.997689	0.22554	N	-0.345	0.03330	N	0.85	0.47130	T	0.02	0.06739	N	0.028	0.06454	-1.0265	0.21593	T	0.064	0.26562	T	10	0.0036052465	0.00065	T	0.004778	0.11941	T	0.136	0.36778	.	.	0.319921171382	0.31595	0.23082654051811535	0.22997	0.437537583899	0.43807	0.329932630062	0.14924	T	0.053521	0.29467	T	-0.625166	0.00102	T	-0.695412	0.06080	T	0.00577423715031776	0.00063	T	0.60234	0.22547	T	0.056145005	0.11007	0.06911373	0.14521	0.056145005	0.11007	0.06911373	0.14521	-4.532	0.31305	T	.	.	0.081	0.08272	B	.;.	.;.	2.519244	0.32554	19.08	0.79146443262946087	0.12611	0.86866	0.46242	D	AEFBHCI	0.155606	0.28082	N	-0.368622993232637	0.26593	1.452544	-0.175765444861462	0.32430	1.844957	2.33785120711251E-4	0.06095	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	2.35	0.28166	1.491000	0.35192	4.822000	0.45127	0.672000	0.70159	0.998000	0.41325	1.000000	0.68203	0.980000	0.58198	0.0668:0.1192:0.7045:0.1095	8.958	0.34991	955	0.09969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	634.98	35	chr17	31998960	.	G	A	634.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.929;DP=687;ExcessHet=0.0000;FS=1.145;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=0.896;SOR=0.892	GT:AD:DP:GQ:PL	0/1:22,25:47:99:649,0,495	20	0	1	0
chr17	36500932	36500932	G	A	exonic	MYO19	.	nonsynonymous SNV	MYO19:NM_025109:exon19:c.C1675T:p.R559W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.987	D	0.401	B	0.714	N	1.000	D	2.35	M	-0.09	T	-0.469	T	0.277	T	0.26	3.313	17.14	5.12	2.532	2.586	12.246	0.267	0.131241261624	.	0.00179712	0.0007	0	9.261e-05	0	0	0	0	0.0050	0.0005951	92	154602	rs374876861	0.0003	0.0003	0.0002	0.0004	0.0048	0.0003	0.0003	0.0044	0.0043	2.988e-05	6.718e-05	0	0	0	0.0002	1.08e-05	0.0004	0.0048	0.0002	0.0002	0.0001	0.0003	0.0056	0.0001	0.0001	0.0040	0.0034	0	0	0	0	0	0	0	4.411e-05	0	0.0056	.	.	.	0.013	0.63109	D	0.941	0.61912	P	0.288	0.44513	B	0.714183	0.09989	N	0.812807	0.97767	0.25298	N	2.16	0.60381	M	.	.	.	.	.	.	0.349	0.43417	-0.4685	0.69777	T	0.277	0.64916	T	10	0.008021444	0.00182	T	0.131241	0.81347	D	.	.	0.52	0.62217	0.441740949975	0.43797	0.24035356249638337	0.23949	.	.	0.236466944218	0.02481	T	0.196238	0.55256	T	-0.402794	0.02220	T	-0.350958	0.39094	T	0.157200881667589	0.17662	T	.	.	.	0.22462642	0.45108	0.12765667	0.30727	0.22462642	0.45108	0.12765667	0.30726	-7.007	0.58485	T	.	.	0.090	0.22825	B	.;.	.;.	4.701934	0.75451	26.3	0.9988685468017926	0.96204	0.53590	0.29409	D	AEFDGBHCI	0.415770	0.48450	N	0.271290883550102	0.54698	3.634849	0.239599910768694	0.52060	3.383485	0.999964356702747	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.12	5.12	0.69459	2.164000	0.42013	11.755000	0.95496	0.676000	0.76740	0.022000	0.19841	1.000000	0.68203	0.874000	0.41677	0.0:0.1713:0.8287:0.0	12.246	0.53883	710	0.56735	Myosin head, motor domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1842.98	33	chr17	36500932	.	G	A	1842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=826;ExcessHet=0.0000;FS=3.308;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=2.38;SOR=1.035	GT:AD:DP:GQ:PL	0/1:61,68:129:99:1857,0,1562	20	0	1	0
chr17	36607700	36607700	G	A	exonic	MRM1	.	nonsynonymous SNV	MRM1:NM_024864:exon3:c.G667A:p.G223S,	.	.	.	.	.	.	.	.	.	.	.	2672766	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.99	D	0.932	D	0.000	D	1.000	D	2.625	M	1.38	T	-0.566	T	0.243	T	0.847	5.149	32	5.56	2.615	6.266	16.229	0.430	0.03231910059	.	.	4.952e-05	0	0	0.0007	0	0	0	0	.	.	.	rs750600798	7.525e-06	7.524e-06	6.806e-06	8.251e-06	0.0003	4.04e-06	2.95e-06	6.092e-05	2.521e-05	0	0	0	0.0001	0	0.0003	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.66756	D	0.99	0.63424	D	0.932	0.66722	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.325	0.66631	M	.	.	.	.	.	.	0.893	0.91621	-0.5658	0.66181	T	0.243	0.61131	T	10	0.8555392	0.84749	D	0.032319	0.54176	D	.	.	0.748	0.87905	0.440077040801	0.43627	0.8870838796187946	0.88677	.	.	0.481673300266	0.36288	T	0.161086	0.50520	T	0.13604	0.67947	D	0.266503	0.86403	D	0.912871479988098	0.56894	D	.	.	.	0.40876243	0.61334	0.38587868	0.63494	0.40876243	0.61335	0.38587868	0.63494	-11.635	0.83028	D	.	.	0.353	0.61249	A	.;.	.;.	4.079799	0.60676	24.2	0.99892555760547552	0.96589	0.98987	0.89585	D	AEFDBI	0.673410	0.63948	D	0.813104161243374	0.86918	9.042388	0.779910408202395	0.88361	9.554211	0.999999999714782	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.56	5.56	0.83678	6.755000	0.74710	11.810000	0.96908	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.732000	0.35165	0.0:0.0:1.0:0.0	16.229	0.82140	806	0.43582	tRNA/rRNA methyltransferase, SpoU type;tRNA/rRNA methyltransferase, SpoU type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1341.98	40	chr17	36607700	.	G	A	1341.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.28;ReadPosRankSum=-1.457e+00;SOR=0.708	GT:AD:DP:GQ:PL	0/1:41,53:94:99:1356,0,850	20	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.796	P	0.741	P	0.000	D	1.000	D	1.91	M	-1.57	D	0.107	D	0.637	D	0.898	4.574	24.8	5.93	2.826	7.818	19.342	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12960.74	97	chr17	37257713	.	C	T	12960.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.586;DP=2083;ExcessHet=54.0936;FS=453.130;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=6.37;ReadPosRankSum=-7.710e-01;SOR=14.039	GT:AD:DP:GQ:PL	0/1:52,60:112:99:665,0,581	0	0	21	0
chr17	38343282	38343282	C	G	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon1:c.G508C:p.G170R,	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	877387	Congenital_stationary_night_blindness_1E|not_provided	MONDO:MONDO:0013807,MedGen:C3281215,OMIM:614565,Orphanet:215|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	0.926	P	0.556	P	0.015	N	1.000	N	2.045	M	-1.16	T	-0.583	T	0.267	T	0.153	2.735	15.11	3.95	1.394	0.992	9.029	0.245	.	0.0052	0.00519169	0.0018	0.0207	0.0009	0	0	1.499e-05	0.0011	0	0.0017464	270	154602	rs77937007	0.0006	0.0006	0.0006	0.0005	0.0190	0.0005	0.0005	0.0178	0.0173	0.0190	0.0013	0	0	0	0.0014	1.529e-05	0.0015	3.478e-05	0.0057	0.0057	0.0057	0.0056	0.0195	0.0054	0.0052	0.0184	0.0180	0.0195	0	0.0028	0	0	0	0	0	0.0057	0	.	.	.	0.023	0.57104	D	.	.	.	.	.	.	0.014840	0.28418	N	0.341532	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.477	0.51226	-0.5829	0.65502	T	0.267	0.63865	T	10	0.004958838	0.00106	T	.	.	.	.	.	0.204	0.11936	0.228597637076	0.22478	0.37903647266740226	0.37818	.	.	0.337994337082	0.16137	T	.	.	.	-0.484606	0.00696	T	-0.451959	0.27480	T	0.0355043945906175	0.02894	T	0.894111	0.63286	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.33710	B	.;.	.;.	2.411770	0.30999	18.61	0.99825373438790943	0.90764	0.32086	0.24499	N	AEFDBI	0.241702	0.36328	N	0.105476650818943	0.46719	2.907931	0.02380660261954	0.40822	2.442494	0.116617599489407	0.16782	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.95	3.95	0.44952	1.051000	0.30027	2.163000	0.30996	0.599000	0.40250	0.000000	0.06391	0.436000	0.24879	0.712000	0.34516	0.0:0.7511:0.1651:0.0838	9.029	0.35407	177	0.93145	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2729.98	34	chr17	38343282	.	C	G	2729.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.670;DP=945;ExcessHet=0.0000;FS=2.375;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=-9.320e-01;SOR=0.682	GT:AD:DP:GQ:PL	0/1:99,108:207:99:2744,0,2424	20	0	1	0
chr17	39526140	39526140	C	T	exonic	CDK12	.	nonsynonymous SNV	CDK12:NM_015083:exon13:c.C3584T:p.T1195M	.	.	425	1094	3	0	0	3	0.00136924	.	.	137598	not_specified|Hereditary_breast_ovarian_cancer_syndrome|CDK12-related_disorder	MedGen:CN169374|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.004	B	0.004	B	0.032	N	0.950	N	1.245	L	-0.4	T	-0.951	T	0.076	T	0.182	2.521	14.39	3.32	0.730	1.083	8.900	0.080	.	0.0111	0.00599042	0.0027	0.0304	0.0007	0	0	4.503e-05	0.0033	0.0002	0.0025032	387	154602	rs61741615	0.0009	0.0009	0.0010	0.0008	0.0321	0.0009	0.0009	0.0305	0.0299	0.0321	0.0017	0	0	0	0.0017	1.169e-05	0.0021	0.0003	0.0093	0.0093	0.0092	0.0094	0.0321	0.0089	0.0087	0.0306	0.0300	0.0321	0	0.0034	0	0	0	0.0034	0.0001	0.0080	0.0008	0.011	0.55530	D	0.039	0.51112	D	0.004	0.12183	B	0.004	0.10090	B	0.031503	0.25158	N	0.288672	0.95026	0.26510	N	1.59	0.40313	L	-0.45	0.69896	T	-1.09	0.30762	N	0.135	0.13911	-0.9507	0.40851	T	0.076	0.30460	T	10	0.002410978	0.00036	T	.	.	.	0.080	0.23350	.	.	0.41089407703	0.40707	0.23901028071069444	0.23815	0.505556540671	0.48791	0.40447562933	0.25691	T	0.021684	0.34908	T	-0.442727	0.01246	T	-0.385038	0.35133	T	0.0172431242562048	0.00466	T	0.907009	0.68770	D	0.024258202	0.01240	0.049285147	0.07500	0.024150215	0.01218	0.05228501	0.08581	-5.947	0.45833	T	.	.	0.078	0.08320	B	.;.;.	.;.;.	3.010795	0.40265	21.1	0.99075266276139695	0.51834	0.90608	0.51925	D	AEFDGBI	0.201398	0.32806	N	-0.268577963293855	0.30369	1.692684	-0.134033094447453	0.34028	1.952874	0.0372130687170748	0.14285	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.33	3.32	0.37134	0.790000	0.26562	2.471000	0.32897	0.599000	0.40250	0.320000	0.25502	0.986000	0.30841	0.998000	0.85391	0.2644:0.6641:0.0:0.0714	8.900	0.34652	311	0.87433	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3836.11	36	chr17	39526140	.	C	T	3836.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.09;DP=953;ExcessHet=0.1072;FS=3.979;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=-1.086e+00;SOR=0.945	GT:AD:DP:GQ:PL	0/1:63,75:138:99:2069,0,1408	19	0	2	0
chr17	41226817	41226817	A	G	exonic	KRTAP9-2	.	nonsynonymous SNV	KRTAP9-2:NM_031961:exon1:c.A163G:p.T55A,	.	.	425	1074	23	0	0	23	0.0105942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.057	B	0.014	B	.	.	1.000	N	0.325	N	5.02	T	-0.908	T	0.003	T	0.144	0.312	5.690	-4.25	-1.137	-0.824	0.293	0.019	0.00107116852984	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs71371480	4.462e-06	6.164e-05	2.949e-06	6.002e-06	5.634e-05	1.61e-06	1.05e-06	9.33e-06	3.49e-06	0	0	0	5.634e-05	0	0	3.848e-06	0	0	8.37e-05	0.0040	8.167e-05	8.583e-05	0.0001	4.754e-05	3.715e-05	4.988e-05	3.582e-05	0.0001	0	6.923e-05	0	0	0	0	0.0001	0	0	0.239	0.17761	T	0.194	0.28120	T	0.057	0.22878	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	1.615	0.41426	L	4.93	0.01395	T	-2.18	0.49187	N	0.052	0.02366	-0.9083	0.47061	T	0.003	0.00800	T	9	0.069259465	0.09913	T	0.001071	0.01239	T	0.019	0.03383	0.272	0.22210	0.0806252709748	0.07271	0.06562531389351679	0.06501	1.12458278325	0.78412	0.193279489875	0.00288	T	0.016892	0.13877	T	-0.329445	0.06154	T	-0.711002	0.05244	T	0.0578466179088175	0.06824	T	0.00989901	0.00051	T	0.030785557	0.02802	0.043039963	0.05265	0.030785557	0.02801	0.043039963	0.05265	-2.973	0.09893	T	.	.	0.075	0.05491	B	.	.	-0.162279	0.03290	0.566	0.19617231370711175	0.00670	0.02148	0.06321	N	AEFBI	0.028638	0.02560	N	-1.71002807248366	0.00807	0.03487423	-1.80660392748605	0.00738	0.03290239	1.56655996843476E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.18	-4.25	0.03508	-0.848000	0.04435	-20.000000	0.00162	-0.756000	0.03544	0.000000	0.06391	0.000000	0.08366	0.172000	0.21044	0.272:0.1967:0.143:0.3883	0.293	0.00242	115	0.95340	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	186.8	280	chr17	41226817	.	A	G	186.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=2.96;DP=6613;ExcessHet=0.1072;FS=31.807;InbreedingCoeff=-0.0635;MLEAC=2;MLEAF=0.050;MQ=56.57;MQRankSum=-9.891e+00;QD=0.25;ReadPosRankSum=-5.323e+00;SOR=4.220	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:358,32:392:33:.:.:33,0,15110	18	0	2	1
chr17	41255418	41255418	-	ACATGCTGCAGGACC	exonic	KRTAP9-9	.	nonframeshift insertion	KRTAP9-9:NM_030975:exon1:c.33_34insACATGCTGCAGGACC:p.C18_W19insCRTTC,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0003	0.0004	0	0.0002	0	0.0016	.	.	.	.	0.0001	0.0001	0.0001	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	0	9.887e-05	0	0.0006	0	0.0003	9.047e-05	0.0002	0.0006	0.0003	0.0002	0.0002	0.0004	0.0009	0.0002	0.0002	0.0003	0.0003	9.301e-05	0	0	0	0	0	0	0.0006	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	31242.72	98	chr17	41255418	.	T	TACCTGCTGCAGGACC,TACATGCTGCAGGACC	31242.72	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.14;DP=2539;ExcessHet=0.0001;FS=5.599;InbreedingCoeff=0.7311;MLEAC=26,1;MLEAF=0.619,0.024;MQ=52.57;MQRankSum=-1.273e+00;QD=33.81;ReadPosRankSum=-3.744e+00;SOR=1.018	GT:AD:DP:GQ:PL	1/1:0,60,0:60:99:2615,172,0,2623,181,2631	6	11	3	0
chr17	41350572	41350572	G	A	exonic	KRT33A	.	nonsynonymous SNV	KRT33A:NM_004138:exon1:c.C196T:p.R66C,	.	.	410	1058	53	1	0	55	0.0253339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.976	D	0.000	D	1.000	D	2.935	M	-3.36	D	1.017	D	0.898	D	0.971	4.496	24.1	4.23	1.520	7.713	14.546	0.922	0.436287017873	0.0035	0.000798722	0.0043	0.0006	0.0037	0.0001	0.0008	0.0053	0.0055	0.0065	0.0040038	619	154602	rs140696036	0.0036	0.0036	0.0033	0.0038	0.0201	0.0035	0.0034	0.0171	0.0160	0.0005	0.0040	0.0231	5.038e-05	0.0009	0.0201	0.0030	0.0058	0.0061	0.0031	0.0031	0.0033	0.0029	0.0041	0.0028	0.0027	0.0033	0.0032	0.0006	0	0.0041	0.0236	0	0.0011	0.0034	0.0037	0.0071	0.0039	0.0	0.91255	D	0.012	0.63918	D	1.0	0.90584	D	0.976	0.73562	D	0.000007	0.62929	D	0.000000	0.999999	0.58761	D	3.46	0.92336	M	-3.36	0.94067	D	-7.9	0.96191	D	0.976	0.98657	1.017	0.97482	D	0.898	0.96625	D	10	0.02853188	0.00984	T	0.436287	0.94078	D	0.922	0.98041	.	.	0.538421760271	0.53494	0.9097202378544089	0.90946	0.757084658312	0.64061	0.711831569672	0.68859	T	0.690892	0.91012	D	0.187443	0.72727	D	0.498946	0.94577	D	0.0767523785386575	0.09567	T	.	.	.	0.7987579	0.83826	0.78658015	0.87434	0.7987579	0.83828	0.78658015	0.87435	-9.252	0.69305	D	.	.	0.846	0.79557	P	.	.	5.387492	0.90267	31	0.9993401679230427	0.99535	0.99283	0.93924	D	AEFBI	0.909503	0.86623	D	0.807964928911192	0.86601	8.938252	0.733904308135246	0.84951	8.437471	0.683773634918903	0.22510	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.22	4.23	0.49319	8.096000	0.89369	6.317000	0.55438	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8528:0.1472	14.546	0.67619	150	0.94078	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4051.11	35	chr17	41350572	.	G	A	4051.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.07;DP=1254;ExcessHet=0.1072;FS=5.064;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.79;MQRankSum=0.629;QD=15.23;ReadPosRankSum=1.40;SOR=0.999	GT:AD:DP:GQ:PL	0/1:77,80:157:99:2286,0,2002	19	0	2	0
chr17	41424414	41424414	T	G	exonic	KRT37	.	nonsynonymous SNV	KRT37:NM_003770:exon1:c.A110C:p.E37A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.666	P	0.112	B	0.026	N	1.000	N	1.65	L	-1.61	D	-0.819	T	0.293	T	0.396	0.797	8.195	2.9	1.590	-0.423	4.299	0.310	0.0282713385761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	0	4.13e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	1.658e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	0.09687	T	0.625	0.07316	T	0.666	0.41077	P	0.112	0.31615	B	0.025718	0.26042	N	0.270263	1	0.08975	N	1.87	0.49600	L	-1.61	0.82254	D	-1.2	0.30555	N	0.211	0.23506	-0.8186	0.54022	T	0.293	0.66422	T	10	0.1401706	0.26645	T	0.028271	0.50969	D	0.310	0.63162	0.44	0.49484	0.653694015854	0.65080	0.15104603538390188	0.15026	0.138311207975	0.15596	0.464838564396	0.33973	T	0.013104	0.11397	T	-0.0401763	0.45922	T	-0.295487	0.45198	T	0.253729790449142	0.23039	T	.	.	.	0.08178109	0.18807	0.05174298	0.08389	0.08178109	0.18806	0.05174298	0.08389	-1.458	0.01680	T	.	.	0.097	0.15966	B	.	.	0.677166	0.10455	7.175	0.86128255831665024	0.16331	0.03545	0.08742	N	AEFBI	0.044199	0.07083	N	-0.624290659060365	0.18216	0.9439701	-0.72046115651546	0.16452	0.8703642	3.08330100576357E-5	0.03498	0.569682	0.32691	0	0.563428	0.19063	0	0.657636	0.52715	0	0.542086	0.14980	0	.	.	4.0	2.9	0.32809	-2.155000	0.01371	2.928000	0.35601	0.660000	0.55035	0.000000	0.06391	0.517000	0.25288	0.023000	0.12082	0.0:0.1756:0.1849:0.6395	4.299	0.10357	209	0.91859	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4808.98	109	chr17	41424414	.	T	G	4808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.720e+00;DP=1856;ExcessHet=0.0000;FS=0.459;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.50;ReadPosRankSum=0.020;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,126:260:99:0|1:41424408_T_C:4823,0,5163:41424408	20	0	1	0
chr17	42780853	42780853	C	T	exonic	WNK4	.	nonsynonymous SNV	WNK4:NM_032387:exon1:c.C155T:p.P52L,	Pseudohypoaldosteronism, type IIB, Autosomal dominant	.	4	1517	1	0	0	1	0.000329489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.02	B	0.012	B	0.035	N	0.993	D	0.55	N	-0.54	T	-0.829	T	0.189	T	0.157	2.738	15.12	4.19	2.499	3.168	12.217	0.104	0.315628983228	.	.	8.674e-05	0	0	0	0	1.793e-05	0	0.0005	5.82e-05	9	154602	rs748218580	2.896e-05	2.873e-05	1.235e-05	4.572e-05	0.0004	2.168e-05	1.923e-05	0.0003	0.0003	0	0	0	0	0	0.0002	2.701e-06	0	0.0004	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.122	0.27663	T	0.492	0.11479	T	0.02	0.18235	B	0.012	0.16012	B	0.035459	0.24643	N	0.292710	0.992775	0.41739	D	1.7	0.43825	L	-0.54	0.70950	T	-2.93	0.61284	D	0.171	0.18239	-0.8288	0.53378	T	0.189	0.53990	T	10	0.071804315	0.10635	T	0.315629	0.91320	D	0.104	0.29647	0.238	0.16912	0.685188464609	0.68250	0.2107586730043905	0.20991	0.6592716153	0.58797	0.80191719532	0.82255	T	0.215293	0.57713	T	-0.334375	0.05788	T	-0.366364	0.37313	T	0.0790024192325276	0.09858	T	0.758424	0.38228	T	0.18658882	0.40073	0.2178859	0.46472	0.18658882	0.40073	0.2178859	0.46471	-4.546	0.31486	T	.	.	0.093	0.14247	B	.	.	3.597822	0.50803	23.0	0.99708603774493287	0.81143	0.56057	0.30020	D	ALL	0.417791	0.48569	N	-0.418952549892547	0.24804	1.341975	-0.309638911111058	0.27786	1.54434	0.999999992677061	0.74766	0.437478	0.07067	0	0.550933	0.16991	0	0.606814	0.37721	0	0.618803	0.45993	0	.	.	5.36	4.19	0.48645	1.615000	0.36533	5.679000	0.49287	0.500000	0.22704	0.002000	0.15269	0.989000	0.31174	0.267000	0.23694	0.0:0.9015:0.0:0.0985	12.217	0.53721	237	0.90758	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	787.98	34	chr17	42780853	.	C	T	787.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.579;DP=723;ExcessHet=0.0000;FS=4.058;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.45;ReadPosRankSum=-4.800e-02;SOR=0.652	GT:AD:DP:GQ:PL	0/1:20,31:51:99:802,0,465	20	0	1	0
chr17	45242070	45242070	-	CCG	exonic	FMNL1	.	nonframeshift insertion	FMNL1:NM_005892:exon15:c.1809_1810insCCG:p.P612_G613insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	5739.79	40	chr17	45242067	.	TCCG	T,TCCGCCG	5739.79	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-3.300e-02;DP=925;ExcessHet=1.1607;FS=1.351;InbreedingCoeff=-0.1351;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=17.94;ReadPosRankSum=-7.100e-02;SOR=0.799	GT:AD:DP:GQ:PL	0/1:28,27,0:55:99:1050,0,1013,1134,1094,2228	16	0	3	0
chr17	50517305	50517305	C	T	exonic	MYCBPAP	.	nonsynonymous SNV	MYCBPAP:NM_001366294:exon3:c.C217T:p.R73C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.916	D	0.030	N	1.000	D	2.125	M	1.78	T	-0.853	T	0.140	T	0.454	2.438	14.11	4.48	1.437	2.028	12.268	0.200	0.0299245457448	7.7e-05	.	2.471e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs373757291	2.668e-05	2.668e-05	2.586e-05	2.75e-05	0.0001	1.997e-05	1.754e-05	6.246e-05	4.757e-05	2.987e-05	0	0	2.519e-05	0	0	2.428e-05	0	0.0001	6.574e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	0.030155	0.25350	N	0.417829	0.974161	0.39082	D	.	.	.	1.78	0.25996	T	-4.04	0.81835	D	0.178	0.19190	-0.8531	0.51753	T	0.140	0.45960	T	10	0.29058614	0.46639	T	0.029925	0.52343	D	0.200	0.48430	.	.	0.378498632473	0.37457	.	.	0.230248923434	0.25573	0.228967398405	0.01893	T	0.177832	0.52827	T	-0.237621	0.15653	T	-0.376449	0.36137	T	0.682659804821014	0.39909	D	0.816118	0.47137	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.14568	B	.;.;.	.;.;.	3.789456	0.54539	23.5	0.99915264310246277	0.98379	0.61900	0.31620	D	AEFDGBHCI	0.183958	0.31128	N	0.250167636263467	0.53647	3.532683	0.126441994600675	0.45906	2.845585	0.999999999997263	0.74766	0.608966	0.35542	0	0.588015	0.36545	0	0.550215	0.18615	0	0.505526	0.08623	0	.	.	5.45	4.48	0.53973	2.100000	0.41402	1.444000	0.26551	0.599000	0.40250	0.350000	0.25759	0.808000	0.27011	0.083000	0.17415	0.0:0.92:0.0:0.08	12.268	0.54006	928	0.17405	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2118.98	33	chr17	50517305	.	C	T	2118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.699e+00;DP=818;ExcessHet=0.0000;FS=6.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.96;ReadPosRankSum=1.59;SOR=0.290	GT:AD:DP:GQ:PL	0/1:40,78:118:99:2133,0,1107	20	0	1	0
chr17	56904353	56904353	T	C	exonic	TRIM25	.	nonsynonymous SNV	TRIM25:NM_005082:exon3:c.A829G:p.I277V,	.	.	433	1082	6	1	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.007	B	0.01	B	0.017	N	1.000	N	1.5	L	0.93	T	-1.033	T	0.088	T	0.079	0.176	4.946	3.53	1.119	0.772	9.996	0.028	.	7.7e-05	0.00339457	0.0026	0.0002	0	0	0	0	0.0011	0.0191	0.0022574	349	154602	rs200957804	0.0012	0.0012	0.0007	0.0017	0.0194	0.0012	0.0011	0.0186	0.0183	5.974e-05	0	0	0	0	0.0003	2.158e-05	0.0011	0.0194	0.0006	0.0006	0.0004	0.0008	0.0168	0.0005	0.0004	0.0138	0.0127	9.628e-05	0	0	0	0	0	0	0	0	0.0168	0.419	0.09866	T	0.546	0.09555	T	0.007	0.14184	B	0.01	0.14941	B	0.017467	0.27716	N	0.312664	1	0.08975	N	1.985	0.53793	M	0.93	0.44065	T	-0.37	0.13226	N	0.265	0.30233	-1.0330	0.19490	T	0.088	0.33913	T	10	0.009251505	0.00209	T	.	.	.	0.028	0.06331	.	.	0.346085882481	0.34212	0.22876417662585583	0.22791	0.202961065636	0.22713	0.448556661606	0.31747	T	0.075671	0.35233	T	-0.610587	0.00126	T	-0.634247	0.10094	T	0.011280357839379	0.00167	T	0.623338	0.24021	T	0.055261847	0.10716	0.04689328	0.06637	0.055261847	0.10715	0.04689328	0.06636	-3.247	0.13063	T	.	.	0.092	0.13644	B	.;.	.;.	2.124554	0.27044	17.33	0.85597541410989109	0.15992	0.39411	0.26207	N	AEFBCI	0.035779	0.04661	N	-0.381615427875809	0.26124	1.423372	-0.274091177666772	0.28956	1.618454	0.857930487644778	0.25169	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	3.53	0.39533	1.327000	0.33352	2.177000	0.31099	0.665000	0.62972	0.981000	0.35396	0.996000	0.32793	0.841000	0.39698	0.0:0.2278:0.0:0.7722	9.996	0.41074	32	0.98147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2045.98	44	chr17	56904353	.	T	C	2045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.510e-01;DP=980;ExcessHet=0.0000;FS=1.956;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=0.074;SOR=0.859	GT:AD:DP:GQ:PL	0/1:72,89:161:99:2060,0,1646	20	0	1	0
chr17	58515000	58515000	T	C	exonic	MTMR4	.	nonsynonymous SNV	MTMR4:NM_001378066:exon3:c.A7G:p.R3G,	.	.	819	699	3	1	0	5	0.00356379	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0006147	16	26028	rs535683624	0.0003	0.0002	0.0003	0.0004	0.0108	0.0003	0.0003	0.0095	0.0090	0	0	0	0	0	0.0049	6.694e-05	0.0009	0.0108	0.0003	0.0003	0.0002	0.0005	0.0096	0.0003	0.0002	0.0074	0.0066	2.413e-05	0	0	0	0	0	0	4.418e-05	0.0005	0.0096	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006149411	0.00138	T	.	.	.	.	.	.	.	0.102598925029	0.09809	.	.	.	.	.	.	.	.	.	.	-0.230386	0.16599	T	-0.56871	0.15567	T	.	.	.	0.256474	0.04006	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.02145	B	.	.	0.261285	0.06400	2.864	0.66979672290101289	0.08218	0.04218	0.09733	N	AEFDBCI	0.134457	0.25448	N	.	.	.	.	.	.	0.999999934891037	0.74766	0.518646	0.21542	1	0.405561	0.06353	1	0.239995	0.05000	1	0.657601	0.63696	0	.	.	3.9	-7.8	0.01078	-1.276000	0.02923	-1.361000	0.05622	-0.122000	0.13826	0.000000	0.06391	0.000000	0.08366	0.654000	0.32802	0.3702:0.1754:0.251:0.2034	0.430	0.00438	326	0.86709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1701.98	41	chr17	58515000	.	T	C	1701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.590e+00;DP=869;ExcessHet=0.0000;FS=0.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.38;ReadPosRankSum=-2.800e-02;SOR=0.702	GT:AD:DP:GQ:PL	0/1:86,78:164:99:1716,0,2216	20	0	1	0
chr17	60183298	60183298	A	C	exonic	USP32	.	nonsynonymous SNV	USP32:NM_032582:exon31:c.T3990G:p.D1330E,	.	.	436	1067	19	0	0	19	0.0088249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.001	B	0.000	N	1.000	D	0.345	N	1.01	T	-1.084	T	0.045	T	0.095	1.244	10.05	0.908	-0.124	-0.970	1.977	0.051	.	0.0004	0.00339457	0.0024	0	0.0005	0	0.0002	0.0005	0.0033	0.0153	0.0021345	330	154602	rs201933998	0.0012	0.0012	0.0008	0.0017	0.0146	0.0012	0.0012	0.0140	0.0137	5.975e-05	0.0004	0.0020	0	0.0003	0.0049	0.0003	0.0017	0.0146	0.0009	0.0009	0.0006	0.0011	0.0149	0.0007	0.0007	0.0121	0.0111	9.62e-05	0	0.0008	0.0029	0	0.0004	0	0.0004	0.0009	0.0149	0.562	0.06341	T	0.776	0.04965	T	0.0	0.02946	B	0.001	0.04355	B	0.000066	0.52346	N	0.196730	0.775016	0.29395	N	-0.375	0.03072	N	1.01	0.41058	T	-0.54	0.16598	N	0.097	0.13626	-1.0843	0.06535	T	0.045	0.19397	T	10	0.0035755932	0.00065	T	.	.	.	0.051	0.14325	0.431	0.48007	0.218628672733	0.21463	0.12745906263928541	0.12671	0.517425013995	0.49607	0.394037008286	0.24237	T	0.022677	0.17443	T	-0.664851	0.00059	T	-0.716113	0.04985	T	0.00970801338553429	0.00127	T	0.657134	0.26688	T	0.020675551	0.00635	0.029880913	0.01377	0.020675551	0.00634	0.029880913	0.01376	-3.045	0.10674	T	.	.	0.089	0.12132	B	.;.	.;.	-0.962295	0.00826	0.028	0.94168662651421975	0.24380	0.07690	0.13694	N	AEFBI	0.066555	0.13039	N	-0.789202420597743	0.13591	0.6706229	-0.685935860505343	0.17312	0.9199886	9.63617271352789E-6	0.01202	0.706548	0.73137	0	0.653731	0.59785	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.78	0.908	0.18455	-0.954000	0.03983	-2.545000	0.03625	-0.057000	0.16691	0.013000	0.18845	0.000000	0.08366	0.638000	0.32368	0.3773:0.3003:0.2168:0.1056	1.977	0.03210	482	0.77288	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1739.98	36	chr17	60183298	.	A	C	1739.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.16;DP=805;ExcessHet=0.0000;FS=0.722;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.54;ReadPosRankSum=-1.040e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/1:46,66:112:99:1754,0,986	20	0	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	YES	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.639	25.4	5.44	2.535	7.487	19.245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	576.98	48	chr17	61968034	.	C	G	576.98	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-9.620e-01;DP=1240;ExcessHet=7.7275;FS=188.533;InbreedingCoeff=-0.4183;MLEAC=12;MLEAF=0.316;MQ=60.00;MQRankSum=0.00;QD=1.00;ReadPosRankSum=0.939;SOR=11.843	GT:AD:DP:GQ:PL	0/1:34,26:60:93:93,0,247	8	0	11	2
chr17	61992617	61992617	T	C	exonic	MED13	.	nonsynonymous SNV	MED13:NM_005121:exon11:c.A2186G:p.E729G,	.	.	425	1092	5	0	0	5	0.00228415	.	.	2808121	not_provided|MED13-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.006	B	0.004	B	0.027	N	1.000	D	1.59	L	-0.99	T	-0.609	T	0.256	T	0.295	3.720	18.89	5.66	2.167	6.474	15.901	0.217	0.0139553565965	0.0009	0.00119808	0.0011	0.0004	0.0004	0	0	0.0014	0.0011	0.0020	0.0011707	181	154602	rs78309726	0.0018	0.0019	0.0018	0.0018	0.0021	0.0018	0.0017	0.0021	0.0020	0.0004	0.0005	0.0002	0	3.746e-05	0.0012	0.0021	0.0016	0.0018	0.0010	0.0010	0.0012	0.0007	0.0019	0.0008	0.0008	0.0014	0.0013	0.0004	0	0.0003	0	0	0	0	0.0017	0.0009	0.0019	0.158	0.23905	T	0.032	0.53426	D	0.006	0.13644	B	0.004	0.10090	B	0.026745	0.25867	N	0.476464	0.999901	0.50806	D	1.65	0.42232	L	-0.99	0.75911	T	-2.04	0.46842	N	0.125	0.11769	-0.6092	0.64437	T	0.256	0.62586	T	10	0.007025838	0.00160	T	0.013955	0.33748	T	0.217	0.51112	.	.	0.231005064126	0.22704	0.19965252650421492	0.19882	0.214022663997	0.23940	0.429062694311	0.29081	T	0.057196	0.30498	T	-0.336316	0.05648	T	-0.259549	0.48869	T	0.0196209355880136	0.00665	T	0.823018	0.48339	T	0.106289566	0.25131	0.121901475	0.29409	0.106289566	0.25131	0.121901475	0.29408	-4.738	0.33860	T	.	.	0.124	0.26138	B	.	.	3.499906	0.48958	22.7	0.99785440304670825	0.87131	0.97737	0.76769	D	AEFBI	0.650471	0.62457	D	0.118235359990896	0.47315	2.958822	0.296996616933251	0.55364	3.69948	0.999596560820274	0.40745	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.66	5.66	0.87293	4.439000	0.59711	7.901000	0.73554	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.901	0.79162	191	0.92559	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1165.98	33	chr17	61992617	.	T	C	1165.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.285;DP=809;ExcessHet=0.0000;FS=4.391;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.48;ReadPosRankSum=-1.084e+00;SOR=1.032	GT:AD:DP:GQ:PL	0/1:73,50:123:99:1180,0,1843	20	0	1	0
chr17	69194391	69194391	T	G	exonic	ABCA10	.	nonsynonymous SNV	ABCA10:NM_001377321:exon12:c.A1339C:p.T447P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.134	U	0.773	D	3.115	M	-3.44	D	0.986	D	0.905	D	0.506	3.427	17.59	-0.080	-0.265	-0.468	10.925	0.526	0.0706512358573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.991	0.79672	D	0.134411	0.18517	U	0.279124	1	0.08975	N	2.905	0.84014	M	-3.44	0.94428	D	-5.19	0.83625	D	0.316	0.35620	0.986	0.96957	D	0.905	0.96836	D	10	0.6209373	0.67973	D	0.070651	0.71060	D	0.526	0.79947	0.631	0.76699	0.699037688466	0.69643	0.5532918652599023	0.55255	0.243943641455	0.26902	0.252976089716	0.04087	T	0.533151	0.83880	D	0.135842	0.67927	D	-0.0426483	0.67523	D	0.895191133022308	0.54670	D	0.914809	0.69637	D	0.6011463	0.72753	0.5017864	0.71199	0.6011463	0.72754	0.5017864	0.71199	-11.463	0.82137	D	.	.	0.239	0.47261	B	.	.	1.737620	0.22111	15.49	0.99165558929957254	0.54241	0.13345	0.17803	N	AEFBIJ	0.286709	0.39903	N	-0.111038399058478	0.36910	2.140095	-0.406183954240203	0.24816	1.361035	7.03656766406363E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	3.8	-0.0796	0.13044	-0.113000	0.10745	-5.355000	0.01750	0.587000	0.30956	0.003000	0.16062	0.000000	0.08366	0.207000	0.22098	0.7412:0.0:0.0:0.2588	10.925	0.46398	910	0.22284	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	217.3	33	chr17	69194391	.	T	G	217.3	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.822e+00;DP=1966;ExcessHet=1.7912;FS=271.712;InbreedingCoeff=-0.1603;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.097;SOR=11.722	GT:AD:DP:GQ:PL	0/1:110,36:146:99:118,0,2064	15	0	6	0
chr17	73437987	73437987	C	T	exonic	SDK2	.	nonsynonymous SNV	SDK2:NM_001144952:exon7:c.G893A:p.R298Q,	.	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.014	B	0.018	B	0.113	U	0.933	N	0.77	N	1.68	T	-1.009	T	0.036	T	0.179	2.623	14.73	4.1	1.127	1.974	6.707	0.065	.	.	0.00638978	0.0123	0.0005	0.0023	0	0	0	0.005	0.0301	0.0024838	384	154602	rs546431565	0.0019	0.0020	0.0010	0.0029	0.0319	0.0019	0.0018	0.0309	0.0304	0.0002	2.802e-05	0	2.801e-05	2.052e-05	0.0016	2.411e-05	0.0022	0.0319	0.0011	0.0011	0.0006	0.0017	0.0342	0.0010	0.0010	0.0299	0.0283	0.0002	0	0	0	0.0002	0	0	0	0	0.0342	0.008	0.58626	D	0.145	0.33000	T	0.014	0.16867	B	0.018	0.18489	B	0.112725	0.19345	U	0.466924	0.933419	0.26996	N	0.76	0.19266	N	1.68	0.27184	T	-0.33	0.12472	N	0.241	0.27197	-1.0087	0.27323	T	0.036	0.15422	T	10	0.0048659146	0.00104	T	.	.	.	0.065	0.18881	.	.	0.191931220699	0.18833	0.5780800715697186	0.57737	0.287369703213	0.31141	0.30911642313	0.11774	T	0.018139	0.14677	T	-0.548224	0.00299	T	-0.535888	0.18703	T	0.0170755405499214	0.00454	T	0.90161	0.65783	D	0.10013258	0.23639	0.09788593	0.23316	0.10013258	0.23639	0.09788593	0.23315	-4.527	0.31240	T	.	.	0.081	0.08465	B	.	.	3.142884	0.42517	21.6	0.9985064422361648	0.93013	0.62731	0.31871	D	AEFDGBI	0.233102	0.35608	N	-0.563945626544369	0.20048	1.054007	-0.433002980180035	0.24035	1.313952	0.00607302397385722	0.11122	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.07	4.1	0.47196	2.035000	0.40776	2.184000	0.31153	0.587000	0.30956	0.511000	0.27041	0.975000	0.29991	0.761000	0.36181	0.0:0.5764:0.2683:0.1552	6.707	0.22447	454	0.79125	Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1950.11	37	chr17	73437987	.	C	T	1950.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.00;DP=832;ExcessHet=0.1072;FS=2.226;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=0.816;SOR=0.511	GT:AD:DP:GQ:PL	0/1:32,40:72:99:1137,0,805	19	0	2	0
chr17	74301072	74301072	G	A	exonic	DNAI2	.	nonsynonymous SNV	DNAI2:NM_001172810:exon8:c.G891A:p.M297I	Ciliary dyskinesia, primary, 9, with or without situs inversus	.	0	1521	1	0	0	1	0.000328623	.	.	654834	Primary_ciliary_dyskinesia|not_specified	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.0	B	0.001	B	0.293	N	0.999	N	0.66	N	2.14	T	-1.052	T	0.021	T	0.106	1.375	10.52	-11.1	-1.570	-0.504	7.217	0.038	0.00241591658441	.	.	4.119e-05	0	0	0	0	1.499e-05	0	0.0002	3.23e-05	5	154602	rs750750518	2.6e-05	2.599e-05	2.314e-05	2.888e-05	0.0021	1.933e-05	1.692e-05	0.0012	0.0009	0	0	0	0	0	0.0021	1.169e-05	4.968e-05	0.0001	4.596e-05	4.593e-05	5.139e-05	4.029e-05	0.0004	2.108e-05	1.526e-05	7.301e-05	3.033e-05	0	0	0	0	0	0	0	7.35e-05	0	0.0004	0.111	0.29029	T	0.098	0.39645	T	0.0	0.02946	B	0.001	0.04355	B	0.292969	0.14734	N	0.699713	0.999389	0.21275	N	0.985	0.24966	L	2.14	0.19450	T	-0.61	0.18042	N	0.189	0.22098	-1.0518	0.13899	T	0.021	0.09009	T	10	0.0630188	0.08147	T	0.002416	0.04729	T	0.038	0.09825	0.481	0.56142	0.0986583533028	0.09354	0.10460961141638588	0.10390	0.260195621557	0.28586	0.530730128288	0.43137	T	0.037916	0.26290	T	-0.550268	0.00290	T	-0.736049	0.04059	T	0.0352244338350153	0.02846	T	0.787921	0.43457	T	0.11039478	0.26095	0.11243319	0.27129	0.11039478	0.26095	0.11243319	0.27128	-6.408	0.50109	T	0.17389393781656115	0.22054	0.093	0.33249	B	.;.;.;.	.;.;.;.	0.472311	0.08418	5.175	0.83098685962420527	0.14541	0.26900	0.23125	N	AEFDBCI	0.067733	0.13329	N	-1.47797021107167	0.02006	0.08814072	-1.54096140239427	0.02039	0.09319491	0.999919093745475	0.45857	0.62174	0.39705	0	0.600433	0.49495	0	0.491614	0.08109	1	0.691587	0.68394	0	.	.	5.56	-11.1	0.00116	-0.818000	0.04574	-0.215000	0.10817	-0.826000	0.02916	0.032000	0.20554	0.044000	0.21668	0.412000	0.27050	0.3877:0.0935:0.4553:0.0635	7.217	0.25143	707	0.57054	.;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1096.98	36	chr17	74301072	.	G	A	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.460e-01;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=-5.360e-01;SOR=0.686	GT:AD:DP:GQ:PL	0/1:37,42:79:99:1111,0,924	20	0	1	0
chr17	74744901	74744901	G	A	exonic	RAB37	.	nonsynonymous SNV	RAB37:NM_001163990:exon6:c.G350A:p.R117H	.	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.932	D	0.003	N	0.906	D	0.66	N	-1.09	T	0.013	D	0.436	T	0.49	3.184	16.66	4.35	1.362	4.431	13.577	0.329	0.0888820195319	0.0002	0.000399361	0.0003	0	0	0	0	6.002e-05	0	0.0018	0.0002393	37	154602	rs149486886	0.0002	0.0002	0.0002	0.0003	0.0014	0.0002	0.0002	0.0012	0.0011	5.974e-05	0	0	0	1.872e-05	0.0003	0.0002	0.0002	0.0014	9.187e-05	9.185e-05	6.421e-05	0.0001	0.0014	5.521e-05	4.359e-05	0.0007	0.0005	2.404e-05	0	0	0	0	0	0	8.819e-05	0	0.0014	0.009	0.57480	D	0.024	0.56640	D	0.991	0.77913	D	0.806	0.66722	P	0.003306	0.35125	N	0.291326	0.90552	0.36277	D	0.66	0.16226	N	-1.09	0.77206	T	-2.84	0.63323	D	0.427	0.48227	0.013	0.82523	D	0.436	0.77580	T	10	0.045586824	0.03647	T	0.088882	0.75219	D	0.329	0.65126	.	.	0.799345439407	0.79747	0.5628952889373727	0.56216	0.753270066185	0.63885	0.515773355961	0.41032	T	0.524509	0.85653	D	-0.263911	0.12446	T	-0.187245	0.55849	T	0.324161142110825	0.25990	T	0.918208	0.84976	D	0.2664097	0.49711	0.19249615	0.42767	0.2664097	0.49711	0.19249615	0.42766	-8.734	0.65968	D	.	.	0.107	0.21277	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.509148	0.70594	25.5	0.99825073345814341	0.90764	0.49266	0.28394	N	ALL	0.388978	0.46838	N	0.0983910044779267	0.46386	2.87988	0.0848586443297628	0.43787	2.673235	1.0	0.98316	0.72623	0.87236	0	0.779548	0.99637	0	0.594344	0.31042	0	0.603991	0.37454	0	.	.	5.33	4.35	0.51454	3.087000	0.49865	7.510000	0.59607	-0.153000	0.12021	0.998000	0.41325	1.000000	0.68203	0.612000	0.31691	0.0:0.1562:0.8437:0.0	13.577	0.61347	652	0.62785	Small GTP-binding protein domain;.;Small GTP-binding protein domain;Small GTP-binding protein domain;.;Small GTP-binding protein domain;.;Small GTP-binding protein domain;Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	694.98	34	chr17	74744901	.	G	A	694.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.023;DP=743;ExcessHet=0.0000;FS=8.458;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.48;ReadPosRankSum=-8.210e-01;SOR=1.754	GT:AD:DP:GQ:PL	0/1:21,27:48:99:709,0,507	20	0	1	0
chr17	75492735	75492735	G	A	exonic	TMEM94	.	nonsynonymous SNV	TMEM94:NM_001321148:exon14:c.G1888A:p.A630T	.	.	.	.	.	.	.	.	.	.	.	3213643	TMEM94-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	N	0.893	N	0.69	N	-2.49	D	-0.773	T	0.363	T	0.265	1.128	9.598	2.52	0.327	1.267	4.132	0.195	0.0486462252046	0.0003	0.000399361	0.0003	0	0	0.0001	0	0.0005	0	0.0004	0.0002911	45	154602	rs147708696	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0.0001	4.472e-05	0.0066	2.519e-05	0	0.0014	6.565e-05	0.0007	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	9.048e-05	7.012e-05	2.407e-05	0	6.538e-05	0.0043	0.0002	0	0	0.0002	0.0005	0.0002	0.411	0.12070	T	0.394	0.17750	T	0.0	0.02946	B	0.0	0.04355	B	0.000036	0.55875	N	0.163302	0.893219	0.27843	N	.	.	.	-2.49	0.89145	D	0.55	0.02721	N	0.084	0.10483	-0.7735	0.56664	T	0.363	0.72399	T	10	0.0068484247	0.00156	T	0.048646	0.63465	D	0.195	0.47612	.	.	0.317667799068	0.31381	0.2727674240561188	0.27189	0.378392664226	0.39249	0.46014714241	0.33331	T	0.052151	0.29079	T	-0.240955	0.15227	T	-0.291743	0.45591	T	0.00632802555028157	0.00070	T	0.784422	0.42483	T	0.017530069	0.00280	0.040695205	0.04456	0.017530069	0.00280	0.040695205	0.04456	-4.554	0.31589	T	.	.	0.066	0.03887	B	.;.;.;.	.;.;.;.	0.859572	0.12321	8.859	0.86671456339020292	0.16693	0.52886	0.29239	D	AEFBI	0.118363	0.23148	N	-0.98841067629656	0.08851	0.4165837	-0.880067525650507	0.12566	0.647168	0.914080574004901	0.26443	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.6	2.52	0.29514	1.317000	0.33237	1.336000	0.25703	-0.105000	0.15698	0.756000	0.29198	0.739000	0.26469	0.729000	0.35066	0.1365:0.1269:0.605:0.1315	4.132	0.09621	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2948.98	42	chr17	75492735	.	G	A	2948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=1061;ExcessHet=0.0000;FS=0.978;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-8.570e-01;SOR=0.764	GT:AD:DP:GQ:PL	0/1:124,118:242:99:2963,0,2874	20	0	1	0
chr17	75629133	75629133	T	A	exonic	RECQL5	.	nonsynonymous SNV	RECQL5:NM_004259:exon16:c.A2290T:p.I764F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.004	N	1.000	D	2.095	M	0.44	T	-0.404	T	0.318	T	0.698	2.690	14.96	5.09	2.129	5.495	14.215	0.314	0.0422924203696	0.0002	.	0.0003	0	0.0002	0	0	0.0005	0	0	0.0002458	38	154602	rs201921330	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0001	0.0003	0.0002	2.987e-05	0.0002	0.0064	0	0	0.0009	3.867e-05	0.0004	0	0.0002	0.0002	0.0002	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	0	0	0.0007	0.0060	0	0	0	7.35e-05	0	0	0.0	0.91255	D	0.097	0.39190	T	1.0	0.90584	D	1.0	0.97372	D	0.004046	0.34172	N	0.281753	0.999983	0.54805	D	1.935	0.51832	L	0.44	0.56609	T	-0.8	0.22078	N	0.682	0.68863	-0.4039	0.71904	T	0.318	0.68735	T	10	0.009247661	0.00209	T	0.042292	0.60388	D	0.314	0.63588	.	.	0.793893798558	0.79198	0.45328409288805116	0.45246	0.7053372141	0.61386	0.549027383327	0.45721	T	0.304608	0.67690	T	-0.0843768	0.39000	T	-0.0742644	0.65321	T	0.0859501244627405	0.10730	T	0.850515	0.53399	D	0.38096702	0.59386	0.31508785	0.57496	0.38096702	0.59386	0.31508785	0.57496	-8.017	0.61186	D	.	.	0.658	0.72165	P	.;.;.	.;.;.	4.423576	0.68532	25.2	0.92295829216335123	0.21685	0.98920	0.88639	D	AEFBI	0.595043	0.58975	D	0.537019012088588	0.69294	5.336741	0.447136483573293	0.64534	4.710654	0.999967386491922	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	5.09	5.09	0.68647	5.482000	0.66555	6.082000	0.53358	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:0.0:1.0	14.215	0.65329	976	0.04745	.;RecQ helicase-like 5|RecQ helicase-like 5;RecQ helicase-like 5|RecQ helicase-like 5	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1201.98	34	chr17	75629133	.	T	A	1201.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.38;DP=833;ExcessHet=0.0000;FS=0.804;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=-4.180e-01;SOR=0.830	GT:AD:DP:GQ:PL	0/1:48,44:92:99:1216,0,1287	20	0	1	0
chr17	75703827	75703827	G	T	exonic	SAP30BP	.	nonsynonymous SNV	SAP30BP:NM_001301839:exon7:c.G521T:p.G174V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.099	B	0.098	B	0.000	D	1.000	D	1.685	L	.	.	-0.739	T	0.286	T	0.95	3.551	18.11	6.06	2.879	7.100	20.624	0.354	0.00672515290798	0.0002	.	0.0003	0	0.0002	0	0	0.0005	0	0	0.0002523	39	154602	rs140022461	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	6.092e-05	3.952e-05	2.987e-05	0.0001	0.0063	0	0	0.0003	3.238e-05	0.0004	0	0.0002	0.0002	0.0002	0.0002	5.88e-05	0.0001	9.702e-05	1.972e-05	1.124e-05	0	0	0	0.0061	0	0	0	5.88e-05	0	0	.	.	.	0.317	0.19304	T	0.056	0.25639	B	0.098	0.30479	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.905	0.50856	L	.	.	.	.	.	.	0.631	0.64478	-0.7387	0.58519	T	0.286	0.65831	T	9	0.021247566	0.00505	T	0.006725	0.17756	T	0.354	0.67510	.	.	0.653626395709	0.65074	0.8560618702833002	0.85569	1.80745962536	0.91753	0.817253053188	0.84606	D	0.199115	0.55631	T	0.260941	0.79616	D	0.392093	0.91851	D	0.125973689408287	0.15005	T	0.958204	0.86318	D	0.29267037	0.52240	0.3576063	0.61251	0.29267037	0.52240	0.3576063	0.61251	-8.108	0.61805	D	.	.	0.713	0.75377	P	.;.;.;.	.;.;.;.	4.931355	0.81311	27.5	0.98688108439833599	0.44723	0.95919	0.66721	D	ALL	0.937038	0.93424	D	0.244380027022423	0.53361	3.505352	0.430046903648988	0.63447	4.578412	1.0	0.98316	0.730579	0.87903	0	0.702456	0.74545	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	6.06	6.06	0.98340	7.268000	0.77870	11.787000	0.96267	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.624	0.99515	976	0.04745	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1831.98	34	chr17	75703827	.	G	T	1831.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.201e+00;DP=841;ExcessHet=0.0000;FS=4.937;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=-1.485e+00;SOR=0.415	GT:AD:DP:GQ:PL	0/1:66,79:145:99:1846,0,1631	20	0	1	0
chr17	76079966	76079966	T	C	exonic	ZACN	.	nonsynonymous SNV	ZACN:NM_180990:exon4:c.T346C:p.W116R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.19	M	-5.07	D	1.092	D	0.958	D	0.951	2.086	12.93	4.17	1.744	2.683	10.809	0.823	0.0946866065325	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878985790	1.387e-06	4.104e-06	1.376e-06	1.397e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.354e-05	0	6.572e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.000000	0.993433	0.81001	D	2.255	0.64187	M	-5.07	0.98648	D	-13.51	0.99944	D	0.896	0.89577	1.092	0.99336	D	0.958	0.98636	D	10	0.9912807	0.99651	D	0.094687	0.76296	D	0.823	0.94353	0.96	0.99583	0.423119698836	0.41932	0.8234380693031716	0.82300	0.573426843437	0.53402	0.53933095932	0.44350	T	0.556742	0.85089	D	0.496095	0.94175	D	0.47483	0.94098	D	0.999181926250458	0.96464	D	0.470853	0.13943	T	0.9736867	0.98593	0.937915	0.97630	0.9736867	0.98593	0.937915	0.97630	-11.45	0.82068	D	.	.	0.926	0.84705	P	.	.	4.217473	0.63767	24.6	0.98351149520393877	0.40547	0.68941	0.33994	D	AEFDGBHCI	0.332147	0.43165	N	0.386198804750121	0.60672	4.258892	0.257714691118329	0.53090	3.479718	0.999999998670525	0.74766	0.59774	0.34471	0	0.759151	0.99529	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.17	4.17	0.48303	1.926000	0.39715	.	.	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.041000	0.14368	0.0:0.0:0.0:1.0	10.809	0.45741	676	0.60355	Neurotransmitter-gated ion-channel ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	995.98	34	chr17	76079966	.	T	C	995.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.460e-01;DP=818;ExcessHet=0.0000;FS=1.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=0.731;SOR=0.522	GT:AD:DP:GQ:PL	0/1:49,44:93:99:1010,0,1207	20	0	1	0
chr17	76292606	76292635	CTGATCTGCACCAGGTTGCACCACATCAAT	-	exonic	QRICH2	.	nonframeshift deletion	QRICH2:NM_032134:exon4:c.1594_1623del:p.I532_Q541del,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0004	0	0	3.84e-05	1	26028	rs780443978	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	0.0001	0.0001	7.541e-05	2.987e-05	0	0.0052	5.038e-05	0	0.0005	2.158e-05	0.0002	0	0.0001	0.0002	0.0002	8.061e-05	1.47e-05	8.663e-05	7.255e-05	.	.	0	0	0	0.0055	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	10824.94	253	chr17	76292605	.	GCTGATCTGCACCAGGTTGCACCACATCAAT	G	10824.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.23;DP=3038;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=-1.686e+00;QD=15.46;ReadPosRankSum=1.79;SOR=0.701	GT:AD:DP:GQ:PL	0/1:411,289:700:99:10839,0,16038	20	0	1	0
chr17	79784572	79784572	G	A	exonic	CBX2	.	nonsynonymous SNV	CBX2:NM_005189:exon5:c.G1129A:p.A377T,	.	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.002	B	0.001	B	0.995	U	1.000	N	0.345	N	.	.	-1.011	T	0.055	T	0.075	0.862	8.492	0.627	0.021	-0.118	5.932	0.009	0.00672153244744	.	.	2.649e-05	0.0001	0	0	0	1.625e-05	0	6.111e-05	1.94e-05	3	154602	rs782550309	5.478e-06	5.472e-06	2.725e-06	8.259e-06	0.0003	2.36e-06	1.7e-06	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	4.497e-06	0	1.159e-05	6.574e-06	6.567e-06	1.285e-05	0	6.539e-05	0	0	.	.	0	0	6.539e-05	0	0	0	0	0	0	0	0.116	0.28395	T	0.333	0.18395	T	0.002	0.09854	B	0.001	0.04355	B	0.995112	0.08004	U	0.995454	1	0.08975	N	1.7	0.43825	L	.	.	.	-0.49	0.15578	N	0.014	0.00160	-1.0110	0.26604	T	0.055	0.23224	T	9	0.051789433	0.05114	T	0.006722	0.17756	T	0.009	0.00846	0.183	0.09131	0.151262610727	0.14761	0.14605117101578427	0.14527	0.0375144319418	0.03981	0.309696435928	0.11862	T	0.043376	0.26481	T	-0.42729	0.01540	T	-0.667533	0.07767	T	0.116677641868591	0.14102	T	0.574643	0.20620	T	0.030516535	0.02728	0.041255612	0.04647	0.030516535	0.02728	0.041255612	0.04647	-4.244	0.27384	T	0.19764784468262425	0.26146	0.066	0.02118	B	.	.	0.639762	0.10083	6.830	0.99058356219550292	0.51413	0.17516	0.19871	N	AEFDBCI	0.069897	0.13854	N	-1.24043307664119	0.04427	0.1997736	-1.23292535126495	0.05389	0.2566385	0.959236761488439	0.28413	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.96	0.627	0.16848	0.144000	0.15956	0.512000	0.19089	-1.559000	0.00950	0.000000	0.06391	0.007000	0.19602	0.000000	0.00833	0.2312:0.2741:0.4946:0.0	5.932	0.18382	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1243.98	47	chr17	79784572	.	G	A	1243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.475;DP=924;ExcessHet=0.0000;FS=0.745;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=1.19;SOR=0.588	GT:AD:DP:GQ:PL	0/1:51,50:101:99:1258,0,1198	20	0	1	0
chr17	80090216	80090216	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	38	25	77	71	15	234	0.814126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6471	53123.61	98	chr17	80090216	.	G	C,*	53123.61	.	AC=21,1;AF=0.618,0.029;AN=34;BaseQRankSum=1.74;DP=3278;ExcessHet=5.2224;FS=0.555;InbreedingCoeff=-0.1442;MLEAC=25,1;MLEAF=0.735,0.029;MQ=55.51;MQRankSum=-5.208e+00;QD=22.16;ReadPosRankSum=-1.655e+00;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,52,0:156:99:0|1:80090158_A_G:1484,0,4030,1796,4181,5976:80090158	1	6	9	4
chr17	80090265	80090265	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	34612.98	75	chr17	80090265	.	G	A,*	34612.98	.	AC=18,2;AF=0.643,0.071;AN=28;BaseQRankSum=2.00;DP=2590;ExcessHet=0.6050;FS=1.909;InbreedingCoeff=0.1309;MLEAC=24,3;MLEAF=0.857,0.107;MQ=52.75;MQRankSum=-4.152e+00;QD=21.84;ReadPosRankSum=0.657;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,71,0:72:99:.:.:1713,200,0,1715,205,1720	1	7	4	7
chr17	81260274	81260274	C	T	exonic	SLC38A10	.	nonsynonymous SNV	SLC38A10:NM_001037984:exon11:c.G1252A:p.E418K	.	.	418	1096	7	1	0	9	0.00408905	.	.	2369126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.44	T	0.063	B	0.029	B	0.843	U	1.000	N	0.975	L	3.09	T	-0.960	T	0.022	T	0.085	1.263	10.12	2.42	1.005	0.671	7.589	0.015	0.0127128419944	0.0003	.	0.0008	0	0.0015	0.0002	0	0.0010	0.0021	0.0004	0.000414	64	154602	rs151281009	0.0004	0.0004	0.0004	0.0005	0.0125	0.0004	0.0004	0.0102	0.0093	0.0002	0.0008	0.0072	5.07e-05	0	0.0125	0.0002	0.0008	0.0004	0.0003	0.0003	0.0004	0.0003	0.0006	0.0003	0.0002	0.0002	0.0002	4.81e-05	0	0.0005	0.0063	0	0	0.0034	0.0003	0	0.0006	0.398	0.20456	T	0.7	0.07894	T	0.063	0.23376	B	0.029	0.21540	B	0.843040	0.07011	U	1.139520	1	0.08975	N	1.87	0.49600	L	3.09	0.10386	T	-1.0	0.26422	N	0.123	0.11912	-0.9596	0.39255	T	0.022	0.09421	T	10	0.0047091246	0.00099	T	0.012713	0.31519	T	0.015	0.02232	.	.	0.137902524267	0.13322	0.28003887452860715	0.27916	0.157772187606	0.17814	0.348174631596	0.17654	T	0.003469	0.02879	T	-0.595631	0.00155	T	-0.697181	0.05982	T	0.0113142184117753	0.00167	T	0.766923	0.39491	T	0.047503702	0.08131	0.045542188	0.06151	0.047503702	0.08130	0.045542188	0.06151	-4.742	0.33908	T	.	.	0.074	0.05017	B	.;.	.;.	1.380533	0.17916	13.44	0.95989653593853363	0.28383	0.10674	0.16113	N	AEFDBI	0.107371	0.21394	N	-0.879112931454329	0.11340	0.5467561	-0.890230439007517	0.12324	0.6333135	0.394053003174891	0.20072	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.48	2.42	0.28720	0.508000	0.22398	-0.161000	0.11322	0.596000	0.33519	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.0:0.782:0.0:0.218	7.589	0.27178	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	862.98	35	chr17	81260274	.	C	T	862.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.795;DP=748;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.70;ReadPosRankSum=0.632;SOR=0.627	GT:AD:DP:GQ:PL	0/1:27,36:63:99:877,0,562	20	0	1	0
chr17	81549306	81549306	C	T	exonic	FAAP100	.	nonsynonymous SNV	FAAP100:NM_025161:exon4:c.G1303A:p.D435N,	.	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.358	B	0.082	B	0.299	N	0.994	N	1.79	L	1.5	T	-1.024	T	0.055	T	0.054	0.345	5.873	3.01	0.521	0.449	2.146	0.019	0.0132808777221	7.7e-05	.	0.0002	0	0.0002	0	0	0.0003	0	0.0001	0.000194	30	154602	rs374832539	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0013	0.0011	5.974e-05	0.0006	0	0	0	0.0023	0.0002	0.0005	0.0002	0.0003	0.0003	0.0003	0.0003	0.0012	0.0003	0.0002	0.0008	0.0007	4.811e-05	0	0.0012	0.0003	0	0	0.0034	0.0004	0	0.0004	0.096	0.32296	T	0.332	0.18449	T	0.358	0.33818	B	0.082	0.29098	B	0.298921	0.14633	N	0.655088	0.999998	0.08975	N	2.125	0.59049	M	1.5	0.31205	T	-2.03	0.50666	N	0.28	0.31702	-1.0239	0.22443	T	0.055	0.23186	T	10	0.039919913	0.02519	T	0.013281	0.32560	T	0.019	0.03383	.	.	0.208000267992	0.20380	0.18726845554791324	0.18644	0.520122503921	0.49816	.	.	.	0.068797	0.33547	T	-0.551201	0.00287	T	-0.675505	0.07260	T	0.0277747029854278	0.01655	T	0.727427	0.36851	T	0.032666136	0.03337	0.035640195	0.02855	0.032666136	0.03336	0.035640195	0.02855	-4.243	0.27370	T	.	.	0.113	0.22464	B	.;.	.;.	1.496955	0.19246	14.17	0.97764904710363121	0.35832	0.17849	0.20013	N	AEFDGBHCI	0.080543	0.16287	N	-0.776736215577914	0.13918	0.6892213	-0.832049491068986	0.13720	0.71326	0.999957058790804	0.48110	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.02	3.01	0.33872	0.693000	0.25176	0.985000	0.23152	-0.222000	0.07959	0.051000	0.21449	0.629000	0.25856	0.133000	0.19684	0.1616:0.5112:0.1565:0.1706	2.146	0.03557	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	688.98	33	chr17	81549306	.	C	T	688.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.843e+00;DP=781;ExcessHet=0.0000;FS=2.095;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=-1.310e-01;SOR=0.912	GT:AD:DP:GQ:PL	0/1:31,32:63:99:703,0,790	20	0	1	0
chr17	82253179	82253179	G	C	exonic	CSNK1D	.	nonsynonymous SNV	CSNK1D:NM_001363749:exon4:c.C402G:p.F134L	Advanced sleep-phase syndrome, familial, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.345	M	0.05	T	-0.291	T	0.378	T	0.868	1.497	10.95	-2.31	-0.428	1.091	14.272	0.585	0.294920260008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.976	0.74843	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.075	0.57047	M	0.05	0.61923	T	-5.77	0.87911	D	0.856	0.86191	-0.2906	0.75249	T	0.378	0.73572	T	10	0.8558959	0.84786	D	0.29492	0.90689	D	0.585	0.83360	0.713	0.84872	0.794112205518	0.79219	0.8391474319513283	0.83874	2.45932965126	0.97411	0.943554639816	0.99578	D	0.463857	0.79964	T	0.245163	0.78146	D	0.114383	0.77862	D	0.996541440486908	0.89565	D	0.972453	0.90829	D	0.9611103	0.97392	0.90685	0.95464	0.9611103	0.97392	0.90685	0.95465	-13.686	0.91992	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.476840	0.48528	22.6	0.94285568772606809	0.24584	0.90166	0.51131	D	AEFDGBHCI	0.511037	0.53983	D	-0.0133870369408241	0.41248	2.46393	-0.161674069915806	0.32961	1.880536	0.999992497670314	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.55	-2.31	0.06380	1.140000	0.31128	1.624000	0.27703	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.797000	0.37605	0.285:0.0:0.715:0.0	14.272	0.65705	.	.	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1818	417.46	117	chr17	82253179	.	G	C	417.46	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-4.148e+00;DP=3037;ExcessHet=0.6776;FS=215.249;InbreedingCoeff=-0.2728;MLEAC=6;MLEAF=0.273;MQ=60.00;MQRankSum=0.00;QD=0.50;ReadPosRankSum=1.94;SOR=11.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:158,63:221:99:.:.:213,0,2580	7	0	4	10
chr17	82586121	82586121	A	C	exonic	FOXK2	.	nonsynonymous SNV	FOXK2:NM_004514:exon7:c.A1497C:p.Q499H,	.	.	393	1121	8	0	0	8	0.00355556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.98	D	0.861	P	0.001	D	1.000	N	1.1	L	-3.33	D	0.140	D	0.730	D	0.689	2.245	13.46	-2.09	-0.523	0.400	9.944	0.534	0.133053485112	7.7e-05	0.000399361	0.0008	0	0.0003	0	0	0.0002	0	0.0051	0.0006339	98	154602	rs376958736	0.0004	0.0004	0.0003	0.0005	0.0049	0.0004	0.0004	0.0043	0.0042	0	8.946e-05	0	2.519e-05	0	0.0049	8.994e-05	0.0007	0.0047	0.0002	0.0002	0.0001	0.0003	0.0039	0.0001	0.0001	0.0026	0.0021	2.407e-05	0	6.539e-05	0	0	0.0003	0.0068	2.94e-05	0.0009	0.0039	0.001	0.78490	D	0.183	0.29153	T	0.966	0.56202	D	0.641	0.52117	P	0.000997	0.40743	D	0.169760	0.999531	0.21028	N	2.085	0.57729	M	-3.33	0.93928	D	-2.41	0.52938	N	0.552	0.57775	0.140	0.84885	D	0.730	0.90773	D	10	0.023996174	0.00645	T	0.133053	0.81541	D	0.534	0.80426	0.421	0.46365	0.896053773321	0.89502	0.40317187685952	0.40233	0.291387011894	0.31546	0.535025596619	0.43743	T	0.223642	0.58785	T	-0.0890647	0.38231	T	0.100517	0.76944	D	0.127231458997098	0.15124	T	0.852415	0.53747	D	0.21517342	0.43943	0.19007951	0.42391	0.21517342	0.43943	0.19007951	0.42390	-5.239	0.39336	T	.	.	0.136	0.29642	B	.	.	1.708418	0.21757	15.34	0.97958665010613577	0.37158	0.78737	0.38892	D	AEFDGBCI	0.209792	0.33575	N	-0.510546481628883	0.21738	1.155841	-0.658063672602843	0.18013	0.9604079	0.785491754928936	0.23922	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.53	-2.09	0.06831	0.688000	0.25103	0.482000	0.18815	-0.065000	0.16512	1.000000	0.71638	0.602000	0.25724	0.082000	0.17360	0.3034:0.1207:0.5759:0.0	9.944	0.40767	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1370.98	33	chr17	82586121	.	A	C	1370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.099;DP=892;ExcessHet=0.0000;FS=1.220;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.53;ReadPosRankSum=-2.069e+00;SOR=0.598	GT:AD:DP:GQ:PL	0/1:118,64:182:99:1385,0,3048	20	0	1	0
chr17	82927985	82927985	A	G	exonic	TBCD	.	nonsynonymous SNV	TBCD:NM_005993:exon30:c.A2690G:p.H897R,	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, Autosomal recessive	.	421	1100	1	0	0	1	0.000454339	.	.	1018405	Inborn_genetic_diseases|Early-onset_progressive_diffuse_brain_atrophy-microcephaly-muscle_weakness-optic_atrophy_syndrome|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0044646,MedGen:C4310671,OMIM:617193,Orphanet:496641|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.213	B	0.124	B	0.034	N	1.000	N	0.49	N	-0.36	T	-0.994	T	0.151	T	0.069	0.374	6.032	-4.11	-1.191	0.133	7.409	0.070	0.044564155894	.	.	2.505e-05	0.0001	0	0	0	1.514e-05	0	6.071e-05	1.94e-05	3	154602	rs745875454	2.881e-05	2.873e-05	3.139e-05	2.62e-05	0.0031	2.157e-05	1.913e-05	0.0020	0.0017	0.0003	2.237e-05	0	0	0	0.0031	7.199e-06	6.632e-05	1.159e-05	1.313e-05	1.312e-05	0	2.686e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0	0	0.483	0.08164	T	0.516	0.10607	T	0.132	0.27209	B	0.124	0.32546	B	0.034162	0.01782	N	2.053350	1	0.08975	N	1.725	0.44537	L	-0.36	0.68754	T	-2.1	0.47852	N	0.104	0.10483	-0.9941	0.31538	T	0.151	0.47874	T	9	0.051666856	0.05084	T	0.044564	0.61552	D	0.070	0.20419	0.372	0.38340	0.370608029945	0.36667	0.17930706247777872	0.17849	0.35463631042	0.37235	0.335365891457	0.15743	T	0.034006	0.23149	T	-0.295564	0.09084	T	-0.554677	0.16879	T	0.280776590108871	0.24204	T	0.535646	0.18100	T	0.048272073	0.08386	0.069560565	0.14671	0.048272073	0.08386	0.069560565	0.14670	-2.267	0.04378	T	0.2624155680177993	0.35415	0.057	0.00563	B	.;.	.;.	2.535007	0.32784	19.15	0.62159171479759556	0.06891	0.05806	0.11743	N	AEFDBI	0.081317	0.16452	N	-1.10249047658287	0.06599	0.3042194	-1.16375378585024	0.06525	0.3143264	0.00282010899865103	0.09726	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.17	-4.11	0.03662	-0.178000	0.09775	0.112000	0.14796	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.570000	0.30651	0.3824:0.4571:0.1605:0.0	7.409	0.26179	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1808.98	36	chr17	82927985	.	A	G	1808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=918;ExcessHet=0.0000;FS=1.092;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.78;ReadPosRankSum=-1.168e+00;SOR=0.782	GT:AD:DP:GQ:PL	0/1:123,83:206:99:1823,0,2880	20	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	89848.01	520	chr18	9887397	.	C	T,*	89848.01	.	AC=14,15;AF=0.333,0.357;AN=42;BaseQRankSum=1.52;DP=12043;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=14,15;MLEAF=0.333,0.357;MQ=59.66;MQRankSum=-1.550e-01;QD=11.05;ReadPosRankSum=-6.600e-02;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:267,0,206:473:99:.:.:7360,8474,20113,0,10839,10550	3	2	4	0
chr18	9887415	9887434	TGACATCCCCAAGTCCCCAG	0	exonic	TXNDC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	1383.0	520	chr18	9887415	.	TGACATCCCCAAGTCCCCAG	*,T	1383.0	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=4.88;DP=13456;ExcessHet=0.8717;FS=0.518;InbreedingCoeff=-0.0096;MLEAC=15,1;MLEAF=0.395,0.026;MQ=59.70;MQRankSum=0.190;QD=0.26;ReadPosRankSum=0.247;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:189,213,0:463:99:.:.:8122,0,8443,10346,9596,27947	7	3	8	2
chr18	9887416	9887434	GACATCCCCAAGTCCCCAG	-	exonic	TXNDC2	.	frameshift deletion	TXNDC2:NM_001098529:exon2:c.937_955del:p.D313Kfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.788e-06	8.288e-06	8.77e-06	6.777e-06	5.157e-05	3.24e-06	2.08e-06	2.14e-06	1.55e-06	5.157e-05	0	0	3.633e-05	0	0	7.303e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	1383.0	520	chr18	9887415	.	TGACATCCCCAAGTCCCCAG	*,T	1383.0	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=4.88;DP=13456;ExcessHet=0.8717;FS=0.518;InbreedingCoeff=-0.0096;MLEAC=15,1;MLEAF=0.395,0.026;MQ=59.70;MQRankSum=0.190;QD=0.26;ReadPosRankSum=0.247;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:189,213,0:463:99:.:.:8122,0,8443,10346,9596,27947	7	3	8	2
chr18	12127901	12127901	G	A	exonic	ANKRD62	.	nonsynonymous SNV	ANKRD62:NM_001277333:exon14:c.G2716A:p.V906I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.99	D	0.869	P	.	.	1.000	N	1.445	L	3.49	T	-1.037	T	0.117	T	0.127	0.735	7.902	1.1	0.404	4.800	4.544	0.116	0.00268139193809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.11515	T	0.99	0.63424	D	0.869	0.61749	P	.	.	.	.	1	0.08975	N	2.015	0.55033	M	.	.	.	.	.	.	0.237	0.26717	-1.0369	0.18264	T	0.117	0.41209	T	9	0.20387664	0.36558	T	0.002681	0.05492	T	.	.	0.153	0.05648	0.110078149338	0.10416	0.007665797815379618	0.00732	0.339670602382	0.35915	0.609141767025	0.54194	T	0.003676	0.03081	T	-0.180341	0.23686	T	-0.496824	0.22677	T	0.367775622955708	0.27711	T	0.39886	0.10126	T	0.031131502	0.02898	0.10709982	0.25778	0.031131502	0.02897	0.10709982	0.25777	-3.614	0.18060	T	.	.	0.150	0.33273	B	.	.	1.735361	0.22085	15.47	0.88843147212734486	0.18300	0.68156	0.33696	D	AEFGI	0.255809	0.37486	N	-0.0823440089561925	0.38166	2.231271	-0.273268785403472	0.28983	1.620193	2.46352948154679E-4	0.06141	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.0	1.1	0.19578	4.934000	0.63192	6.613000	0.56094	0.325000	0.19437	1.000000	0.71638	1.000000	0.68203	0.749000	0.35751	0.1993:0.0:0.8007:0.0	4.544	0.11471	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	81.99	68	chr18	12127901	.	G	A	81.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.541e+00;DP=977;ExcessHet=0.0000;FS=92.066;InbreedingCoeff=-0.0250;MLEAC=1;MLEAF=0.024;MQ=59.76;MQRankSum=0.553;QD=0.85;ReadPosRankSum=0.674;SOR=6.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,17:97:96:.:.:96,0,2585	20	0	1	0
chr18	12814235	12814235	C	T	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon6:c.G739A:p.A247T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.794	P	0.216	B	0.002	N	1.000	D	2.125	M	3.61	T	-1.134	T	0.021	T	0.559	3.885	19.75	5.86	2.771	3.660	14.969	0.102	0.00876789102268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207461588	6.903e-07	3.421e-06	0	1.387e-06	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	1.314e-05	1.314e-05	0	2.691e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.039	0.54934	D	0.535	0.43786	P	0.192	0.37572	B	0.001669	0.38326	N	0.115428	0.999173	0.51042	D	3.2	0.89116	M	3.59	0.08547	T	-3.58	0.69477	D	0.344	0.41261	-1.1337	0.01613	T	0.021	0.08917	T	10	0.35547003	0.52307	T	0.008768	0.23147	T	0.102	0.29158	0.427	0.47350	0.372852800391	0.36900	0.6334288060791295	0.63276	0.105728612331	0.11951	0.501613557339	0.39053	T	0.381024	0.74343	T	-0.0684986	0.41567	T	-0.33617	0.40778	T	0.963272750377655	0.66611	D	0.937806	0.76632	D	0.35962412	0.57807	0.25244695	0.50874	0.35962412	0.57808	0.25244695	0.50873	-9.242	0.69757	D	.	.	0.158	0.47524	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106374	0.61274	24.3	0.99791293313253737	0.87661	0.97939	0.78280	D	AEFDGBI	0.505265	0.53649	D	0.395752582900315	0.61191	4.316961	0.491495573655148	0.67425	5.082329	0.999999940755575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	3.760000	0.54947	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1426:0.8574:0.0:0.0	14.969	0.70864	746	0.52331	.;.;.;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.225	1024.34	23	chr18	12814235	.	C	T	1024.34	.	AC=9;AF=0.225;AN=40;BaseQRankSum=-1.786e+00;DP=832;ExcessHet=4.7172;FS=190.289;InbreedingCoeff=-0.2940;MLEAC=9;MLEAF=0.225;MQ=59.98;MQRankSum=0.00;QD=2.05;ReadPosRankSum=0.165;SOR=10.577	GT:AD:DP:GQ:PL	0/1:32,22:54:99:126,0,369	11	0	9	1
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q,	.	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.455	P	0.137	B	.	.	1.000	N	1.495	L	1.38	T	-1.046	T	0.060	T	0.15	-1.338	0.030	-0.976	-0.290	0.960	4.177	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	6662.91	35	chr18	14513679	.	T	G	6662.91	.	AC=12;AF=0.286;AN=42;BaseQRankSum=4.54;DP=3722;ExcessHet=9.6308;FS=15.336;InbreedingCoeff=-0.4158;MLEAC=12;MLEAF=0.286;MQ=50.97;MQRankSum=-9.346e+00;QD=2.29;ReadPosRankSum=-3.404e+00;SOR=2.155	GT:AD:DP:GQ:PL	0/1:246,58:304:99:952,0,6351	9	0	12	0
chr18	22417667	22417667	C	A	exonic	CTAGE1	.	nonsynonymous SNV	CTAGE1:NM_172241:exon1:c.G145T:p.A49S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.951	P	0.69	P	.	.	1.000	N	2.37	M	1.29	T	-0.985	T	0.143	T	0.156	0.302	5.637	0.654	0.587	0.545	.	0.038	0.0016011505263	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.17643	T	0.102	0.38450	T	0.951	0.53992	P	0.69	0.53781	P	.	.	.	.	1	0.08975	N	2.295	0.65404	M	1.29	0.35775	T	-2.28	0.50830	N	0.131	0.12627	-0.9851	0.33808	T	0.143	0.46404	T	7	0.16861552	0.31423	T	0.001601	0.02574	T	0.038	0.09825	0.426	0.47185	0.199424873507	0.19547	0.36942159148925835	0.36856	0.0142283947474	0.01355	0.472976744175	0.35090	T	0.060762	0.31473	T	-0.182268	0.23400	T	-0.499592	0.22390	T	0.421009600162506	0.29728	T	.	.	.	0.15180032	0.34490	0.20935872	0.45276	0.15180032	0.34490	0.20935872	0.45275	-5.271	0.39655	T	.	.	0.155	0.34405	B	.	.	1.419767	0.18362	13.70	0.91595836396841446	0.20878	0.01380	0.04701	N	AEFDBIJ	0.030774	0.03161	N	-0.429781276335592	0.24431	1.319082	-0.730057186575639	0.16213	0.8566619	0.99786505878883	0.36124	0.422189	0.06491	0	0.573888	0.26702	0	0.600433	0.31921	0	0.564101	0.26826	0	.	.	0.654	0.654	0.17006	0.853000	0.27431	0.179000	0.15609	0.298000	0.18894	0.069000	0.22043	0.000000	0.08366	0.002000	0.04165	.	.	.	916	0.20744	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2138.02	36	chr18	22417667	.	C	A	2138.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.155e+00;DP=900;ExcessHet=0.0000;FS=2.768;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=0.333;SOR=0.587	GT:AD:DP:GQ:PL	0/1:77,84:161:99:2152,0,2095	20	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T,	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.85	M	-0.92	T	0.372	D	0.658	D	0.592	5.198	33	5.86	2.937	6.565	20.563	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.4762	4225.93	56	chr18	31541297	.	G	A	4225.93	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-4.940e-01;DP=1248;ExcessHet=43.6797;FS=377.368;InbreedingCoeff=-0.9302;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.76;ReadPosRankSum=0.537;SOR=12.605	GT:AD:DP:GQ:PL	0/1:38,22:60:99:123,0,548	1	0	20	0
chr18	33740135	33740135	G	A	exonic	ASXL3	.	nonsynonymous SNV	ASXL3:NM_030632:exon11:c.G2731A:p.V911M,	Bainbridge-Ropers syndrome	.	9	1505	8	0	0	8	0.00265076	.	.	1252388	not_provided|ASXL3-related_disorder|Severe_feeding_difficulties-failure_to_thrive-microcephaly_due_to_ASXL3_deficiency_syndrome|not_specified	MedGen:C3661900|.|MONDO:MONDO:0014205,MedGen:C4750837,OMIM:615485,Orphanet:352577|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.022	B	0.006	B	0.859	N	1.000	N	0.895	L	2.4	T	-1.038	T	0.034	T	0.082	-0.228	2.900	3.2	1.484	0.492	10.063	0.044	0.00414219397153	0.0011	0.000399361	0.0009	0	0.0008	0	0	0.0009	0	0.0023	0.000815	126	154602	rs201107680	0.0009	0.0009	0.0008	0.0009	0.0076	0.0008	0.0008	0.0058	0.0052	0.0002	0.0012	0.0003	0	1.875e-05	0.0076	0.0008	0.0010	0.0020	0.0006	0.0006	0.0007	0.0005	0.0012	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0012	0	0	9.425e-05	0.0034	0.0008	0.0009	0.0008	0.004	0.65419	D	0.114	0.36765	T	0.022	0.18677	B	0.006	0.12133	B	0.859413	0.08906	N	0.935626	1	0.08975	N	2.52	0.73523	M	2.4	0.15608	T	-0.66	0.19085	N	0.053	0.02462	-1.0383	0.17832	T	0.034	0.14726	T	10	0.0068300962	0.00155	T	0.004142	0.09931	T	0.044	0.11924	.	.	0.168254554758	0.16434	0.17341051208610708	0.17261	0.111911538942	0.12625	0.390768885612	0.23778	T	0.022218	0.17168	T	-0.621238	0.00108	T	-0.670069	0.07604	T	0.0450771833429728	0.04615	T	0.735226	0.35154	T	0.087529466	0.20385	0.11015744	0.26557	0.074845865	0.16824	0.10652041	0.25627	-4.726	0.33718	T	0.17426073278346774	0.22121	0.079	0.07412	B	.;.	.;.	1.347485	0.17547	13.23	0.97372893830633722	0.33632	0.09828	0.15495	N	AEFGBI	0.099188	0.19971	N	-0.714570033915422	0.15612	0.7882748	-0.703443827380952	0.16875	0.8947361	0.112289546767599	0.16680	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.14	3.2	0.35826	0.509000	0.22414	2.010000	0.30161	0.676000	0.76740	0.012000	0.18695	0.015000	0.20450	0.796000	0.37562	0.0845:0.204:0.7116:0.0	10.063	0.41459	530	0.73653	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1887.98	33	chr18	33740135	.	G	A	1887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.150;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.75;ReadPosRankSum=1.24;SOR=0.749	GT:AD:DP:GQ:PL	0/1:56,72:128:99:1902,0,1386	20	0	1	0
chr18	37067196	37067196	T	C	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.T559C:p.C187R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.958	D	0.563	P	0.066	N	1.000	N	1.525	L	0.96	T	-1.043	T	0.086	T	0.141	-0.215	2.958	0.957	-0.051	1.229	2.399	0.028	0.0248307524252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.317	0.70582	T	0.002	0.54977	B	0.003	0.49647	B	0.066107	0.21833	N	0.492799	0.999991	0.18198	N	1.895	0.50365	L	0.96	0.42888	T	-2.89	0.60665	D	0.217	0.34228	-1.0429	0.16443	T	0.086	0.33550	T	10	0.095427215	0.17043	T	0.024831	0.47815	T	0.028	0.06331	0.277	0.23004	0.151104730317	0.14643	0.12560051005708286	0.12486	0.260958981567	0.28653	0.343422293663	0.16949	T	0.074489	0.34951	T	-0.234135	0.16106	T	-0.574095	0.15076	T	0.15222541987896	0.17279	T	0.674733	0.29555	T	0.25123864	0.48131	0.18567732	0.41694	0.25123864	0.48131	0.18567732	0.41693	-2.248	0.04280	T	.	.	0.146	0.40392	B	.;.;.;.;.	.;.;.;.;.	1.448914	0.18694	13.88	0.56740053966158088	0.05617	0.66923	0.33248	D	AEFGI	0.168829	0.29561	N	-0.727595758614455	0.15249	0.7668366	-0.728904545204197	0.16243	0.8583232	4.57563750617174E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	0.957	0.18736	1.298000	0.33017	0.476000	0.18759	-0.169000	0.11342	0.930000	0.32276	0.856000	0.27440	0.032000	0.13371	0.1242:0.1328:0.13:0.613	2.399	0.04129	738	0.53389	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1905	2337.79	46	chr18	37067196	.	T	C	2337.79	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-6.944e+00;DP=2815;ExcessHet=3.5521;FS=193.128;InbreedingCoeff=-0.2495;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=1.16;ReadPosRankSum=1.87;SOR=12.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:280,92:372:99:.:.:107,0,5875	13	0	8	0
chr18	45837719	45837719	G	A	exonic	SIGLEC15	.	nonsynonymous SNV	SIGLEC15:NM_213602:exon3:c.G319A:p.A107T,	.	.	427	1063	30	2	0	34	0.0157407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.062	B	0.033	B	0.033	N	0.986	N	-0.03	N	-0.02	T	-1.065	T	0.063	T	0.052	1.707	11.67	2.66	1.989	1.656	6.395	0.089	.	.	0.00299521	0.0204	0	0.0342	0	0.125	0.0092	0.0319	0.0248	0.0023738	367	154602	rs62095363	0.0037	0.0036	0.0032	0.0042	0.0191	0.0036	0.0036	0.0183	0.0180	0.0003	0.0010	0.0080	0	0.0010	0.0090	0.0028	0.0038	0.0191	0.0028	0.0028	0.0028	0.0028	0.0190	0.0026	0.0025	0.0159	0.0147	0.0007	0	0.0012	0.0078	0	0.0003	0.0034	0.0036	0.0052	0.0190	0.515	0.07378	T	0.324	0.18903	T	0.062	0.23277	B	0.033	0.22329	B	0.033438	0.24899	N	0.377486	1	0.24643	N	-0.28	0.03718	N	-0.02	0.62918	T	-0.07	0.08033	N	0.093	0.07262	-1.0649	0.10572	T	0.063	0.26208	T	10	0.0019133389	0.00026	T	.	.	.	0.089	0.25827	.	.	0.468504517574	0.46476	0.34350939334654673	0.34263	0.492210877652	0.47877	0.825304865837	0.85843	D	0.001769	0.01195	T	-0.583491	0.00184	T	-0.594664	0.13264	T	0.0102953173564013	0.00140	T	0.507849	0.16117	T	0.05689249	0.11252	0.07087038	0.15110	0.05689249	0.11252	0.07087038	0.15110	-6.549	0.50663	T	.	.	0.085	0.10304	B	.	.	3.451763	0.48069	22.6	0.98895844859401605	0.48091	0.21767	0.21517	N	AEFDBHCIJ	0.116215	0.22818	N	-0.629701454152184	0.18055	0.9343636	-0.501972471921448	0.22099	1.198679	0.999999995230794	0.74766	0.55562	0.30534	0	0.68496	0.65989	0	0.606814	0.37721	0	0.765457	0.99879	0	.	.	3.55	2.66	0.30672	1.703000	0.37465	8.228000	0.76834	0.590000	0.31872	0.012000	0.18695	1.000000	0.68203	0.990000	0.65344	0.2953:0.0:0.7046:0.0	6.395	0.20808	977	0.04225	Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1076.98	33	chr18	45837719	.	G	A	1076.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.520e-01;DP=813;ExcessHet=0.0000;FS=1.867;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=0.114;SOR=0.458	GT:AD:DP:GQ:PL	0/1:35,44:79:99:1091,0,824	20	0	1	0
chr18	49792313	49792313	A	T	exonic	ACAA2	.	nonsynonymous SNV	ACAA2:NM_006111:exon6:c.T592A:p.Y198N,	.	.	436	1076	10	0	0	10	0.00462535	.	.	741390	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.001	B	0.022	B	0.003	N	0.983	D	2.04	M	-3.47	D	0.384	D	0.756	D	0.32	0.958	8.907	3.07	0.914	1.290	9.974	0.412	.	7.7e-05	0.00978435	0.0075	0.0002	0.0003	0	0	0.0001	0.0055	0.0540	0.0063195	977	154602	rs149436920	0.0032	0.0032	0.0018	0.0047	0.0515	0.0032	0.0031	0.0503	0.0497	8.967e-05	0.0001	0	0	0	0.0023	4.138e-05	0.0035	0.0515	0.0015	0.0015	0.0008	0.0023	0.0466	0.0014	0.0013	0.0416	0.0397	4.81e-05	0	0.0001	0	0.0002	0	0	2.94e-05	0.0009	0.0466	0.279	0.15561	T	0.278	0.21880	T	0.001	0.07471	B	0.022	0.19653	B	0.002693	0.36102	N	0.338394	0.982977	0.39957	D	1.83	0.48079	L	-3.47	0.94546	D	-2.73	0.58085	D	0.561	0.58798	0.384	0.88849	D	0.756	0.91693	D	10	0.011936933	0.00259	T	.	.	.	0.412	0.72328	.	.	0.961264856787	0.96084	0.7100283675047323	0.70944	0.0714642106299	0.08001	0.35255664587	0.18298	T	0.713606	0.91850	D	-0.262665	0.12591	T	-0.1106	0.62563	T	0.0357932491406695	0.02945	T	0.949505	0.95512	D	0.4810872	0.65966	0.2963661	0.55668	0.4810872	0.65967	0.2963661	0.55667	-5.607	0.42856	T	.	.	0.201	0.46493	B	.;.;.	.;.;.	2.512933	0.32460	19.05	0.87474435527624284	0.17253	0.91058	0.52777	D	AEFBI	0.590402	0.58690	D	-0.192571510914944	0.33443	1.89739	-0.0942136881696004	0.35629	2.063582	0.913324895347477	0.26420	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.49	3.07	0.34476	1.299000	0.33028	3.061000	0.36160	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.7987:0.0:0.2013:0.0	9.974	0.40941	963	0.08280	Thiolase, N-terminal;Thiolase, N-terminal;Thiolase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1490.11	33	chr18	49792313	.	A	T	1490.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.780e-01;DP=792;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=0.592;SOR=0.708	GT:AD:DP:GQ:PL	0/1:30,34:64:99:902,0,758	19	0	2	0
chr18	50251764	50251764	C	T	exonic	CFAP53	.	nonsynonymous SNV	CFAP53:NM_145020:exon4:c.G494A:p.R165H,	Heterotaxy, visceral, 6, autosomal recessive, Autosomal recessive	.	10	1505	6	1	0	8	0.00265076	.	.	532304	CFAP53-related_disorder|not_provided|Heterotaxy,_visceral,_6,_autosomal	.|MedGen:C3661900|MONDO:MONDO:0013887,MedGen:C3553676,OMIM:614779,Orphanet:450	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	2.045	M	2.0	T	-0.959	T	0.138	T	0.802	4.844	27.6	5.32	2.493	4.430	16.508	0.172	0.0213929974462	0.0022	0.000798722	0.0024	0.0001	0.0009	0.0003	0.0020	0.0034	0.0033	0.0022	0.0023027	356	154602	rs138848935	0.0034	0.0034	0.0035	0.0033	0.0036	0.0033	0.0033	0.0033	0.0033	0.0005	0.0011	0.0170	0.0003	0.0011	0.0036	0.0034	0.0061	0.0024	0.0021	0.0021	0.0022	0.0020	0.0028	0.0019	0.0018	0.0025	0.0024	0.0004	0	0.0009	0.0199	0	0.0010	0	0.0028	0.0009	0.0017	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	.	.	.	2.0	0.21473	T	-3.76	0.71276	D	0.67	0.67822	-0.9586	0.39442	T	0.138	0.45508	T	10	0.006061405	0.00136	T	0.021393	0.44151	T	0.172	0.43662	.	.	0.422040124859	0.41822	0.2729855434709832	0.27211	0.417745085427	0.42384	0.480702579021	0.36153	T	0.127136	0.45396	T	-0.23062	0.16567	T	-0.107097	0.62841	T	0.0315478441424417	0.02234	T	0.740126	0.35895	T	0.64005506	0.74834	0.58659947	0.76023	0.67406607	0.76652	0.57435787	0.75345	-9.088	0.68261	D	0.7115408867780539	0.79183	0.130	0.27851	B	.	.	4.562850	0.71921	25.7	0.99947543505911152	0.99913	0.91836	0.54368	D	AEFBI	0.551048	0.56327	D	0.701475539506123	0.79728	7.139553	0.670113134032248	0.80114	7.227928	0.999996717444784	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	3.868000	0.55768	4.017000	0.41215	0.599000	0.40250	0.997000	0.40164	0.999000	0.35428	0.975000	0.56047	0.0:1.0:0.0:0.0	16.508	0.84124	896	0.25515	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2429.11	33	chr18	50251764	.	C	T	2429.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.19;DP=861;ExcessHet=0.1072;FS=7.922;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=0.060;SOR=1.276	GT:AD:DP:GQ:PL	0/1:56,41:97:99:1135,0,1317	19	0	2	0
chr18	54320319	54320319	G	T	exonic	POLI	.	nonsynonymous SNV	POLI:NM_001351621:exon9:c.G1245T:p.R415S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs181073758	0	4.771e-06	.	0	.	0	0	.	.	.	.	.	.	.	.	0	.	.	5.913e-05	5.907e-05	8.998e-05	2.688e-05	0.0002	3.077e-05	2.21e-05	7.874e-05	5.577e-05	0.0002	0	6.547e-05	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	475.98	33	chr18	54320319	.	G	T	475.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.100e-02;DP=734;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.71;ReadPosRankSum=-8.140e-01;SOR=0.796	GT:AD:DP:GQ:PL	0/1:27,22:49:99:490,0,634	20	0	1	0
chr18	58918859	58918859	C	T	exonic	ZNF532	.	nonsynonymous SNV	ZNF532:NM_001318726:exon3:c.C572T:p.T191M	.	.	430	1049	40	3	0	46	0.0214552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.406	B	0.053	B	0.968	N	1.000	N	1.245	L	4.78	T	-0.936	T	0.006	T	0.076	-1.226	0.060	5.12	2.401	0.068	5.740	0.146	.	0.0022	0.00519169	0.0051	0.0006	0.0013	0	0.0060	0.0032	0.0022	0.0209	0.0045795	708	154602	rs138581536	0.0038	0.0038	0.0031	0.0044	0.0205	0.0037	0.0036	0.0197	0.0194	0.0006	0.0013	0.0039	2.519e-05	0.0059	0.0125	0.0027	0.0035	0.0205	0.0031	0.0031	0.0027	0.0036	0.0200	0.0029	0.0028	0.0167	0.0155	0.0009	0	0.0024	0.0032	0	0.0067	0.0136	0.0032	0.0019	0.0200	0.132	0.26519	T	0.111	0.37173	T	0.406	0.34969	B	0.053	0.25678	B	0.967652	0.07758	N	1.013930	1	0.08975	N	1.1	0.28011	L	4.78	0.01551	T	-0.27	0.11366	N	0.109	0.15749	-0.9358	0.43272	T	0.006	0.02131	T	10	0.0024507642	0.00037	T	.	.	.	0.146	0.38789	.	.	0.043077524339	0.03247	0.015359013760375682	0.01491	0.60470736792	0.55397	0.25651088357	0.04483	T	0.00857	0.07859	T	-0.666255	0.00058	T	-0.714211	0.05080	T	0.00518461185078832	0.00056	T	0.90461	0.66442	D	0.063076414	0.13243	0.031573232	0.01765	0.063076414	0.13243	0.031573232	0.01765	-5.006	0.36905	T	.	.	0.072	0.04975	B	.;.;.;.;.	.;.;.;.;.	1.650501	0.21054	15.03	0.43793698931986141	0.03322	0.14789	0.18586	N	AEFGBI	0.131005	0.24979	N	-0.474476265306051	0.22920	1.227163	-0.499071598623072	0.22179	1.203422	0.999997780700719	0.74766	0.722319	0.85440	0	0.610034	0.51514	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	0.563000	0.23250	0.823000	0.21872	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6701:0.1706:0.1593	5.740	0.17357	938	0.14419	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1865.98	40	chr18	58918859	.	C	T	1865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.45;DP=843;ExcessHet=0.0000;FS=7.181;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.69;ReadPosRankSum=-6.790e-01;SOR=1.319	GT:AD:DP:GQ:PL	0/1:60,67:127:99:1880,0,1380	20	0	1	0
chr18	59272512	59272512	T	C	exonic	RAX	.	nonsynonymous SNV	RAX:NM_013435:exon2:c.A392G:p.Q131R,	Microphthalmia, isolated 3, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.586	P	0.191	B	0.056	N	1.000	N	0.975	L	-3.67	D	-0.232	T	0.617	D	0.183	3.260	16.94	-0.848	-0.351	0.506	10.472	0.287	0.162088459709	.	.	8.24e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs765811725	9.577e-06	9.577e-06	9.528e-06	9.625e-06	0.0003	5.56e-06	4.35e-06	0.0002	0.0001	0	0	0	0.0003	0	0.0002	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.25255	T	0.211	0.26631	T	0.586	0.38931	P	0.191	0.36391	B	0.056049	0.22592	N	0.527273	1	0.81001	D	1.04	0.26193	L	-3.67	0.95247	D	-1.81	0.42575	N	0.107	0.09207	-0.2322	0.76829	T	0.617	0.86498	D	10	0.14108104	0.26809	T	0.162088	0.84174	D	0.287	0.60574	0.398	0.42590	0.846096319391	0.84461	0.7962787800504972	0.79580	1.03568562899	0.75588	0.574964046478	0.49377	T	0.110275	0.42483	T	-0.104568	0.35668	T	-0.218853	0.52847	T	0.213960468769073	0.21158	T	0.369563	0.08694	T	0.07816764	0.17786	0.16048698	0.37378	0.07816764	0.17786	0.16048698	0.37377	-8.151	0.62094	D	.	.	0.146	0.32299	B	.	.	2.025117	0.25739	16.87	0.98522509867792529	0.42483	0.75546	0.36994	D	AEFDBCIJ	0.344440	0.43993	N	-0.360939836181781	0.26873	1.46997	-0.297571691655836	0.28178	1.56905	0.998589013745063	0.37247	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	6.04	-0.848	0.10184	0.307000	0.19048	0.602000	0.19937	-0.157000	0.11712	0.982000	0.35529	0.274000	0.24066	0.946000	0.48989	0.1072:0.0:0.4989:0.3939	10.472	0.43830	902	0.24074	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2296.98	38	chr18	59272512	.	T	C	2296.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.188e+00;DP=889;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=-1.270e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/1:105,104:209:99:2311,0,2493	20	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.073	N	0.983	D	-3.46	N	1.84	T	-0.904	T	0.008	T	0.124	-0.621	1.242	3.76	1.045	2.422	13.494	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	4590.35	69	chr18	65824683	.	C	G	4590.35	.	AC=20;AF=0.500;AN=40;BaseQRankSum=0.297;DP=1960;ExcessHet=43.6797;FS=200.513;InbreedingCoeff=-0.9189;MLEAC=20;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.74;ReadPosRankSum=1.02;SOR=12.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,31:92:99:0|1:65824683_C_G:239,0,1487:65824683	0	0	20	1
chr18	79373903	79373903	A	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.A3076G:p.I1026V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.000	N	1.000	D	-0.06	N	-0.34	T	-1.000	T	0.106	T	0.201	-0.358	2.310	3.71	0.793	5.868	10.024	0.086	0.0104317513341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0003	0	0.0001	2.767e-05	4.173e-05	0.0005	0.0005	0.0003	0.0001	0	6.588e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.08700	B	0.000007	0.62929	N	0.106321	0.999956	0.52396	D	.	.	.	-0.34	0.68474	T	0.49	0.02993	N	0.356	0.39760	-1.0003	0.29831	T	0.106	0.38685	T	10	0.17882419	0.32987	T	0.010432	0.26958	T	0.125	0.34456	0.516	0.61611	0.557831953242	0.55443	0.32797818657124184	0.32710	0.19016546305	0.21331	0.641342043877	0.58755	T	0.051017	0.28760	T	-0.0924065	0.37678	T	-0.370512	0.36829	T	0.962732970714569	0.66454	D	0.929107	0.73907	D	0.025876695	0.01576	0.035724007	0.02878	0.025876695	0.01576	0.035724007	0.02878	-4.704	0.33453	T	.	.	0.076	0.05756	B	.;.	.;.	1.506156	0.19358	14.22	0.4022302230854744	0.02825	0.97863	0.77695	D	AEFBI	0.690181	0.65060	D	-0.529217151314464	0.21140	1.119708	-0.32364514690563	0.27337	1.516199	0.922846515319302	0.26722	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.71	0.41733	5.906000	0.69639	0.174000	0.15553	0.756000	0.94297	1.000000	0.71638	0.001000	0.17328	0.726000	0.34967	0.9163:0.0:0.0837:0.0	10.024	0.41234	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2308	1270.66	37	chr18	79373903	.	A	G	1270.66	.	AC=6;AF=0.231;AN=26;BaseQRankSum=-1.120e+00;DP=912;ExcessHet=2.0135;FS=176.158;InbreedingCoeff=-0.3148;MLEAC=8;MLEAF=0.308;MQ=60.00;MQRankSum=0.00;QD=5.08;ReadPosRankSum=0.253;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,13:70:99:0|1:79373903_A_G:195,0,2159:79373903	7	0	6	8
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.354	B	0.097	B	0.000	D	1.000	D	2.775	M	-0.78	T	-0.794	T	0.230	T	0.523	1.377	10.53	-2.28	-0.455	-0.373	8.239	0.085	0.0345994434534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0038	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0006	2.243e-05	0.0002	0.0001	1.877e-05	0.0007	0.0010	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.131	0.34959	T	0.354	0.33710	B	0.045	0.30390	B	0.000007	0.62929	D	0.106321	1	0.81001	D	.	.	.	-0.78	0.73631	T	-1.25	0.31576	N	0.772	0.80473	-0.7945	0.55467	T	0.230	0.59608	T	10	0.6346408	0.68711	D	0.034599	0.55783	D	0.342	0.66392	0.54	0.65161	0.652458548239	0.64956	0.694288075113171	0.69369	0.260033580267	0.28572	0.683687150478	0.64798	T	0.10075	0.40685	T	-0.0241352	0.48263	T	-0.272445	0.47572	T	0.36296334862709	0.27525	T	0.933407	0.75038	D	0.09914479	0.23395	0.10145065	0.24287	0.09914479	0.23395	0.10145065	0.24286	-6.858	0.52989	T	.	.	0.133	0.28835	B	.;.	.;.	1.363101	0.17722	13.33	0.95841953356481135	0.27968	0.40437	0.26436	N	AEFBI	0.191278	0.31848	N	-0.675120176808742	0.16732	0.8550748	-0.728338547967329	0.16257	0.8591364	0.00264162814707333	0.09600	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	-2.28	0.06438	-0.715000	0.05099	-0.654000	0.08013	-0.182000	0.10109	0.002000	0.15269	0.008000	0.19753	0.773000	0.36634	0.0995:0.4512:0.0:0.4493	8.239	0.30810	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	2387.64	32	chr18	79373905	.	C	G	2387.64	.	AC=10;AF=0.500;AN=20;BaseQRankSum=2.00;DP=837;ExcessHet=9.8992;FS=418.465;InbreedingCoeff=-0.4008;MLEAC=16;MLEAF=0.800;MQ=60.00;MQRankSum=0.00;QD=6.15;ReadPosRankSum=1.06;SOR=9.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,17:71:99:0|1:79373903_A_G:349,0,1764:79373903	0	0	10	11
chr18	79373906	79373906	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.019	B	0.031	B	0.000	D	1.000	D	0.325	N	-1.0	T	-0.993	T	0.086	T	0.404	1.590	11.27	3.95	2.415	0.944	7.951	0.179	0.0300084248149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	1.363e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.066	0.44501	T	0.011	0.17989	B	0.014	0.21939	B	0.000044	0.53742	D	0.072519	1	0.81001	D	.	.	.	-1.0	0.76037	T	0.63	0.02404	N	0.643	0.67132	-0.9931	0.31801	T	0.086	0.33578	T	10	0.3595691	0.52622	T	0.030008	0.52407	D	0.228	0.52768	0.556	0.67409	0.716971919736	0.71448	0.6714160944778895	0.67079	0.231826800128	0.25737	0.712757587433	0.68993	T	0.06665	0.32998	T	-0.00324871	0.51206	T	-0.242443	0.50560	T	0.988950908184052	0.79227	D	0.769823	0.39947	T	0.086578995	0.20131	0.08379029	0.19227	0.086578995	0.20130	0.08379029	0.19227	-9.254	0.75058	D	.	.	0.157	0.34775	B	.;.	.;.	2.695608	0.35200	19.83	0.99167772354724137	0.54298	0.79215	0.39211	D	AEFBI	0.229011	0.35260	N	-0.22633195655759	0.32055	1.803854	-0.118404370068464	0.34647	1.995432	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	2047.46	32	chr18	79373906	.	C	G,T	2047.46	.	AC=7,1;AF=0.292,0.042;AN=24;BaseQRankSum=-8.380e-01;DP=858;ExcessHet=5.5058;FS=304.536;InbreedingCoeff=-0.1933;MLEAC=11,2;MLEAF=0.458,0.083;MQ=60.00;MQRankSum=0.00;QD=6.54;ReadPosRankSum=1.07;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:54,4,13:71:99:.:.:265,289,2093,0,1796,2096	4	0	7	9
chr18	79373906	79373906	C	T	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079T:p.L1027F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.682	P	0.361	B	0.000	D	1.000	D	0.83	L	-1.06	T	-0.935	T	0.119	T	0.428	2.268	13.54	3.95	2.415	0.944	7.951	0.093	0.0284690929236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.554	0.41464	P	0.197	0.43233	B	0.000044	0.53742	D	0.072519	0.999999	0.58761	D	.	.	.	-1.06	0.76819	T	-2.04	0.46842	N	0.573	0.62950	-0.9349	0.43409	T	0.119	0.41648	T	10	0.361637	0.52779	T	0.028469	0.51139	D	0.365	0.68495	0.508	0.60386	0.815369968599	0.81363	0.8176144227679487	0.81718	0.338732872668	0.35836	0.746733427048	0.73965	T	0.144628	0.48135	T	0.0232865	0.54826	T	-0.204327	0.54237	T	0.985363662242889	0.76380	D	0.961204	0.85427	D	0.28799716	0.51806	0.31295186	0.57294	0.28799716	0.51806	0.31295186	0.57294	-11.447	0.83762	D	.	.	0.676	0.71986	P	.;.	.;.	3.098208	0.41745	21.4	0.99739806707809964	0.83409	0.69529	0.34224	D	AEFBI	0.189841	0.31708	N	-0.293001453477025	0.29417	1.631174	-0.168557634840095	0.32700	1.863048	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	2047.46	32	chr18	79373906	.	C	G,T	2047.46	.	AC=7,1;AF=0.292,0.042;AN=24;BaseQRankSum=-8.380e-01;DP=858;ExcessHet=5.5058;FS=304.536;InbreedingCoeff=-0.1933;MLEAC=11,2;MLEAF=0.458,0.083;MQ=60.00;MQRankSum=0.00;QD=6.54;ReadPosRankSum=1.07;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:54,4,13:71:99:.:.:265,289,2093,0,1796,2096	4	0	7	9
chr19	501743	501743	-	CCCGACACCACCTCCCAGGAGC	exonic	MADCAM1	.	frameshift insertion	MADCAM1:NM_130760:exon4:c.742_743insCCCGACACCACCTCCCAGGAGC:p.P249Rfs*53,	.	.	978	231	47	127	139	440	0.394495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0007	0.0002	0.0008	0	0.0002	0	0	6.5e-06	1	154602	.	0.0056	0.0059	0.0048	0.0063	0.0110	0.0054	0.0054	0.0102	0.0099	0.0025	0.0092	0.0049	0.0104	0.0032	0.0024	0.0048	0.0059	0.0110	0.0062	0.0070	0.0061	0.0063	0.0266	0.0057	0.0055	0.0217	0.0198	0.0045	0.0050	0.0046	0.0039	0.0266	0.0078	0.0165	0.0058	0.0090	0.0049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	46021.53	35	chr19	501743	.	T	TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC,C,TCCCGACACCACCTCCCAGGAGC	46021.53	.	AC=29,4,1;AF=0.690,0.095,0.024;AN=42;BaseQRankSum=-6.390e-01;DP=1856;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=29,4,1;MLEAF=0.690,0.095,0.024;MQ=58.52;MQRankSum=-7.810e-01;QD=29.75;ReadPosRankSum=-1.790e+00;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,7,23,0:30:99:.:.:1985,1117,1205,349,0,663,1758,1279,592,2058	1	10	5	0
chr19	2251248	2251248	A	G	exonic	AMH	.	nonsynonymous SNV	AMH:NM_000479:exon5:c.A974G:p.Q325R,	Persistent Mullerian duct syndrome, type I, Autosomal recessive	.	5	1488	27	2	0	31	0.0103093	.	.	377366	not_specified|not_provided|Persistent_Mullerian_duct_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009857,MedGen:C1849930,OMIM:261550,Orphanet:2856	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.78	T	0.948	P	0.507	P	0.002	U	0.999	N	1.87	L	-1.55	D	-0.661	T	0.264	T	0.162	0.628	7.378	4.11	1.514	4.544	7.503	0.425	.	.	0.00479233	0.0084	0.0054	0.0222	0	.	0.0284	0.0086	0.0014	0.0010414	161	154602	rs140765565	0.0025	0.0025	0.0025	0.0026	0.0245	0.0025	0.0024	0.0218	0.0213	0.0233	0.0030	0.0435	0	2.985e-05	0.0245	0.0010	0.0071	0.0013	0.0091	0.0091	0.0094	0.0088	0.0244	0.0087	0.0086	0.0231	0.0226	0.0244	0	0.0051	0.0430	0	0.0002	0.0347	0.0014	0.0147	0.0023	0.83	0.02884	T	0.054	0.47097	T	0.948	0.53620	P	0.507	0.47859	P	0.002188	0.37053	U	0.230895	0.99918	0.21543	N	2.25	0.63811	M	-1.55	0.81727	D	-1.55	0.37566	N	0.698	0.70263	-0.6606	0.62249	T	0.264	0.63512	T	10	0.0093874335	0.00212	T	.	.	.	0.425	0.73299	.	.	0.844910197176	0.84342	0.29810499824377995	0.29723	1.82600149433	0.92012	0.874897897243	0.93261	D	0.485823	0.81257	T	-0.370304	0.03578	T	-0.285095	0.46281	T	0.0270123198030899	0.01546	T	0.482752	0.14626	T	0.12263969	0.28815	0.09077527	0.21305	0.12263969	0.28815	0.09077527	0.21304	-2.308	0.04599	T	.	.	0.150	0.33179	B	.	.	3.246013	0.44328	21.9	0.65532530357541507	0.07799	0.63927	0.32243	D	AEFDBCI	0.409307	0.48064	N	0.099763491502891	0.46449	2.885275	0.0820088008310457	0.43643	2.661927	0.997868075121286	0.36124	0.650006	0.45971	0	0.550933	0.16991	0	0.606735	0.37207	0	0.620976	0.48614	0	.	.	4.11	4.11	0.47350	3.649000	0.54157	7.544000	0.60141	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.522000	0.29520	0.8952:0.0:0.1048:0.0	7.503	0.26699	982	0.03397	Anti-Mullerian hormone, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.04762	458.11	39	chr19	2251248	.	A	G	458.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.000e-01;DP=693;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.04;ReadPosRankSum=-9.600e-01;SOR=0.708	GT:AD:DP:GQ:PL	0/1:19,13:32:99:283,0,497	19	0	2	0
chr19	2832366	2832366	C	G	exonic	ZNF554	.	nonsynonymous SNV	ZNF554:NM_001102651:exon4:c.C317G:p.T106S,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.001	B	0.003	B	.	.	1.000	N	-0.695	N	3.27	T	-0.919	T	0.002	T	0.025	-0.487	1.761	-1.82	-0.049	0.083	0.781	0.025	.	0.0054	0.00539137	0.0014	0.0165	0.0004	0	0	4.504e-05	0	0	0.0013648	211	154602	rs148243128	0.0004	0.0004	0.0005	0.0004	0.0172	0.0004	0.0004	0.0160	0.0156	0.0172	0.0005	0	0	0	0.0007	3.597e-06	0.0007	3.479e-05	0.0045	0.0045	0.0047	0.0043	0.0159	0.0042	0.0041	0.0149	0.0145	0.0159	0	0.0008	0	0	0	0	2.94e-05	0.0038	0.0002	0.19	0.21144	T	0.877	0.39340	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.27	0.06602	T	-0.3	0.11913	N	0.081	0.07811	-0.9193	0.45648	T	0.002	0.00738	T	9	0.003809303	0.00071	T	.	.	.	0.025	0.05312	0.205	0.12076	0.225902525712	0.22197	0.042697243834866234	0.04214	0.126610729929	0.14268	0.274248719215	0.06703	T	5.39E-4	0.00207	T	-0.746814	0.00019	T	-0.831897	0.01229	T	0.0027088694562902	0.00028	T	0.284672	0.05031	T	0.036795393	0.04594	0.036250237	0.03033	0.036795393	0.04594	0.036250237	0.03033	-2.671	0.07062	T	.	.	0.134	0.28976	B	.;.	.;.	0.005576	0.04321	1.094	0.378250759857444	0.02515	0.01025	0.03849	N	AEFBI	0.031058	0.03244	N	-1.36289306186625	0.02993	0.1330303	-1.38292515316694	0.03434	0.160158	3.84881025990732E-4	0.06781	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	2.34	-1.82	0.07433	0.024000	0.13447	-1.907000	0.04517	0.377000	0.20376	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.2408:0.3591:0.2372:0.1629	0.781	0.00974	994	0.00715	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1614.98	34	chr19	2832366	.	C	G	1614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.619;DP=829;ExcessHet=0.0000;FS=2.127;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=-1.076e+00;SOR=0.510	GT:AD:DP:GQ:PL	0/1:74,68:142:99:1629,0,1875	20	0	1	0
chr19	2878012	2878012	T	C	exonic	ZNF556	.	nonsynonymous SNV	ZNF556:NM_001300843:exon4:c.T1051C:p.S351P	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.969	D	0.55	P	.	.	1.000	N	0	N	3.33	T	-0.968	T	0.009	T	0.355	1.157	9.710	1.94	0.740	3.673	3.947	0.125	0.00214032473222	0.0006	0.000599042	0.0001	0.0015	0	0	0	0	0	6.069e-05	0.0001423	22	154602	rs149449762	2.942e-05	2.941e-05	3.676e-05	2.2e-05	0.0010	2.217e-05	1.97e-05	0.0007	0.0006	0.0010	0.0001	0	0	0	0	0	6.624e-05	2.319e-05	0.0005	0.0005	0.0004	0.0005	0.0015	0.0004	0.0003	0.0012	0.0011	0.0015	0	0.0003	0	0	0	0	0	0.0009	0	0.008	0.58626	D	0.017	0.60337	D	0.969	0.56768	D	0.55	0.49239	P	.	.	.	.	1	0.08975	N	0	0.06538	N	3.36	0.06138	T	-2.28	0.50830	N	0.176	0.18920	-0.9677	0.37673	T	0.009	0.03011	T	9	0.014710277	0.00309	T	0.00214	0.03989	T	0.125	0.34456	.	.	0.107399877778	0.10242	0.02615009276306525	0.02566	0.0504010441882	0.05533	0.332336306572	0.15287	T	0.022185	0.17150	T	-0.518244	0.00450	T	-0.541825	0.18118	T	0.0485974954173552	0.05250	T	0.242976	0.03512	T	0.18196625	0.39392	0.18548612	0.41664	0.18196625	0.39392	0.18548612	0.41663	-5.966	0.45994	T	.	.	0.068	0.04436	B	.;.	.;.	1.684363	0.21463	15.21	0.97974900385540109	0.37283	0.00000	0.00017	N	AEFBHCI	0.167463	0.29413	N	-0.533616315945304	0.21001	1.11127	-0.697138072102192	0.17032	0.9037907	1.66501376467875E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.94	1.94	0.25058	2.890000	0.48308	-1.159000	0.06158	-0.370000	0.05448	0.727000	0.28892	0.000000	0.08366	0.003000	0.05239	0.3236:0.0:0.0:0.6763	3.947	0.08851	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2039.98	39	chr19	2878012	.	T	C	2039.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.137e+00;DP=920;ExcessHet=0.0000;FS=1.847;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-2.310e-01;SOR=0.756	GT:AD:DP:GQ:PL	0/1:94,82:176:99:2054,0,2475	20	0	1	0
chr19	3613266	3613266	-	TCGCCC	exonic	CACTIN	.	nonframeshift insertion	CACTIN:NM_001080543:exon9:c.1577_1578insGGGCGA:p.G525_D526insEG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	.	0.0007	0.0075	0.0005	0	0.0002	4.924e-05	0	0.0001	0.0005433	84	154602	rs762891565	0.0004	0.0004	0.0004	0.0003	0.0081	0.0003	0.0003	0.0073	0.0070	0.0081	0.0005	0	0	0.0003	0	0.0002	0.0007	2.321e-05	0.0027	0.0027	0.0026	0.0029	0.0090	0.0025	0.0024	0.0083	0.0080	0.0090	0	0.0007	0	0	0.0002	0	0.0004	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1190.94	34	chr19	3613266	.	G	GTCGCCC	1190.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.770e-01;DP=776;ExcessHet=0.0000;FS=1.013;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.53;ReadPosRankSum=-1.950e-01;SOR=0.957	GT:AD:DP:GQ:PL	0/1:27,31:58:99:1205,0,1009	20	0	1	0
chr19	4210334	4210334	C	T	exonic	ANKRD24	.	nonsynonymous SNV	ANKRD24:NM_133475:exon13:c.C1021T:p.R341W,	.	.	408	1112	1	1	0	3	0.0013471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.987	D	.	.	0.996	N	0.345	N	1.32	T	-1.019	T	0.101	T	0.432	3.742	19.00	0.857	-0.028	0.631	7.419	0.116	.	.	0.00259585	0.0049	0	0	0.0005	0	5.281e-05	0	0.0202	0.0016494	255	154602	rs374562535	0.0009	0.0010	0.0005	0.0013	0.0153	0.0009	0.0009	0.0146	0.0143	6.12e-05	2.619e-05	0	7.955e-05	0	0.0012	1.28e-05	0.0010	0.0153	0.0005	0.0005	0.0002	0.0008	0.0164	0.0004	0.0004	0.0135	0.0124	0	0	0	0	0	0	0	0	0	0.0164	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.965	0.77487	D	.	.	.	.	0.995847	0.23185	N	2.045	0.56016	M	1.32	0.36330	T	-4.26	0.76496	D	0.654	0.66443	-1.0194	0.23910	T	0.101	0.37493	T	9	0.008230388	0.00187	T	.	.	.	0.116	0.32463	0.389	0.41115	0.629278366606	0.62625	0.5006940601369507	0.49990	0.837446859487	0.67872	0.641699075699	0.58806	T	0.111562	0.55443	T	-0.40877	0.02025	T	-0.346973	0.39552	T	0.111579293576507	0.13586	T	0.923508	0.72277	D	0.19834836	0.41735	0.25345725	0.50993	0.19834836	0.41734	0.25345725	0.50992	-12.399	0.86740	D	.	.	0.271	0.52679	B	.;.;.;.	.;.;.;.	4.323346	0.66182	24.9	0.99908179433688915	0.97801	0.67400	0.33419	D	AEFBI	0.693222	0.65262	D	0.0675094799840989	0.44953	2.760002	0.0279569398283861	0.41018	2.457332	2.01903339389923E-6	0.01202	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.45	0.857	0.18162	0.672000	0.24868	2.369000	0.32418	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.3662:0.4838:0.15:0.0	7.419	0.26233	917	0.20147	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2110.98	44	chr19	4210334	.	C	T	2110.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.705;DP=899;ExcessHet=0.0000;FS=0.645;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.75;ReadPosRankSum=-1.110e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,59:134:99:0|1:4210334_C_T:2125,0,2730:4210334	20	0	1	0
chr19	4363410	4363410	C	T	exonic	SH3GL1	.	nonsynonymous SNV	SH3GL1:NM_001199943:exon6:c.G544A:p.V182M	Leukemia, acute myeloid, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2352473	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.948	P	0.261	B	0.000	U	0.988	D	1.155	L	1.53	T	-1.054	T	0.060	T	0.44	2.443	14.13	4.67	2.141	2.966	16.527	0.110	0.02222854937	7.7e-05	.	0.0001	0.0012	0.0004	0	0	0	0	0	7.12e-05	11	154602	rs369234045	4.66e-05	4.652e-05	5.317e-05	3.995e-05	0.0010	3.734e-05	3.417e-05	0.0007	0.0006	0.0010	0.0001	0	0	0	0	2.07e-05	8.298e-05	2.329e-05	0.0003	0.0003	0.0002	0.0004	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0.0004	0	0	0	0	2.94e-05	0	0	0.053	0.39097	T	0.089	0.40426	T	0.948	0.53620	P	0.261	0.39516	B	0.000000	0.84330	U	0.000000	0.987806	0.40652	D	1.265	0.31966	L	1.53	0.30401	T	-0.78	0.21644	N	0.366	0.42541	-1.0544	0.13198	T	0.060	0.25237	T	10	0.09454173	0.16818	T	0.022229	0.45097	T	0.110	0.31079	.	.	0.591671430083	0.58844	0.4315432925656547	0.43071	0.513051417295	0.49314	0.73152077198	0.71728	T	0.095355	0.39604	T	-0.38695	0.02814	T	-0.40913	0.32325	T	0.0254089062632453	0.01327	T	0.877212	0.59782	D	0.30621287	0.53455	0.24165955	0.49569	0.30621287	0.53455	0.24165955	0.49567	-7.45	0.60762	T	.	.	0.183	0.48039	B	.;.;.	.;.;.	3.216832	0.43812	21.8	0.99615059479374646	0.75052	0.89511	0.50022	D	AEFDGBHCI	0.358005	0.44883	N	0.150849211676742	0.48852	3.092428	0.200043937056231	0.49850	3.183386	0.999999999999992	0.74766	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.711	0.71501	0	.	.	4.67	4.67	0.58089	3.235000	0.51027	4.883000	0.45686	0.518000	0.23583	0.995000	0.38783	1.000000	0.68203	0.311000	0.24761	0.0:1.0:0.0:0.0	16.527	0.84182	878	0.29785	BAR domain|BAR domain|BAR domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	917.98	35	chr19	4363410	.	C	T	917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.365e+00;DP=758;ExcessHet=0.0000;FS=3.262;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=-1.410e-01;SOR=0.392	GT:AD:DP:GQ:PL	0/1:36,38:74:99:932,0,933	20	0	1	0
chr19	4511387	4511387	G	A	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.C2573T:p.A858V,	.	.	416	1100	5	1	0	7	0.00317173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.002	B	0.01	B	0.039	N	1.000	N	0.14	N	3.98	T	-0.949	T	0.008	T	0.118	-1.003	0.256	2.12	0.579	0.277	4.420	0.029	0.0180833010283	.	.	0.0057	0.0091	0.0077	0.0014	0.0052	0.0056	0.0056	0.0051	0.0001682	26	154602	rs771162067	2.312e-05	0.0011	1.673e-05	2.956e-05	0.0003	1.649e-05	1.45e-05	0.0002	0.0001	0.0003	0.0002	0	0	1.909e-05	0	1.099e-05	3.41e-05	1.187e-05	0.0004	0.0069	0.0003	0.0005	0.0013	0.0003	0.0003	0.0008	0.0006	0.0009	0	0.0013	0	0	0.0009	0	4.971e-05	0.0006	0	1.0	0.00964	T	0.281	0.21612	T	0.002	0.09854	B	0.01	0.14941	B	0.039027	0.01857	N	3.264740	1	0.08975	N	0.69	0.16971	N	3.98	0.03297	T	-0.02	0.07299	N	0.099	0.08088	-0.9492	0.41109	T	0.008	0.02760	T	10	0.007909894	0.00180	T	0.018083	0.40021	T	0.029	0.06676	.	.	0.0138822411134	0.00435	0.014470382677492866	0.01404	.	.	0.237904638052	0.02605	T	0.018477	0.14891	T	-0.350218	0.04714	T	-0.740841	0.03855	T	0.00153011113623067	0.00015	T	0.59544	0.22079	T	0.023214987	0.01043	0.028456092	0.01083	0.023214987	0.01042	0.028456092	0.01082	-6.78	0.52410	T	.	.	0.081	0.09723	B	.;.	.;.	-0.040328	0.04013	0.916	0.22755446620541564	0.00930	0.00611	0.02712	N	AEFGBCI	0.032744	0.03755	N	-1.23996584884986	0.04433	0.2000659	-1.21280270933194	0.05704	0.2725102	7.38268259921625E-4	0.07723	0.676563	0.55306	0	0.550933	0.16991	0	0.673471	0.61138	0	0.604944	0.38103	0	.	.	4.46	2.12	0.26372	-0.764000	0.04841	-1.935000	0.04470	-0.645000	0.04412	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6389:0.0:0.3611:0.0	4.420	0.10901	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	665.11	342	chr19	4511387	.	G	A	665.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.84;DP=7427;ExcessHet=0.1072;FS=56.298;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.94;MQRankSum=-2.183e+00;QD=2.25;ReadPosRankSum=-3.490e-01;SOR=4.145	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:258,25:283:99:0|1:4511363_CCA_C:273,0,10758:4511363	19	0	2	0
chr19	4511388	4511388	C	G	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.G2572C:p.A858P,	.	.	418	1098	5	1	0	7	0.00317749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.951	P	0.644	P	0.039	U	1.000	N	1.24	L	3.86	T	-0.953	T	0.019	T	0.211	2.568	14.55	0.583	0.337	-1.021	9.036	0.073	0.0423553888564	.	.	0.0057	0.0091	0.0077	0.0016	0.0052	0.0056	0.0056	0.0051	6.5e-06	1	154602	rs200538852	1.329e-05	0.0008	1.114e-05	1.547e-05	0.0003	8.5e-06	6.85e-06	0.0002	0.0001	0.0003	0.0001	0	7.744e-05	1.907e-05	0	0	0	0	0.0003	0.0064	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0.0007	0	0.0008	0	0	0.0005	0	4.88e-05	0.0006	0	0.172	0.22660	T	0.227	0.25362	T	0.951	0.53992	P	0.644	0.52249	P	0.039027	0.01857	U	3.264740	1	0.08975	N	1.24	0.30952	L	3.86	0.03624	T	-1.01	0.26639	N	0.175	0.21056	-0.9533	0.40398	T	0.019	0.07846	T	10	0.008268565	0.00187	T	0.042355	0.60420	D	0.073	0.21317	.	.	0.0551355673512	0.04727	0.13849248430646027	0.13772	.	.	0.297758728266	0.10068	T	0.031954	0.22272	T	-0.304874	0.08207	T	-0.675707	0.07248	T	0.0237859162056212	0.01118	T	0.768423	0.39759	T	0.114094384	0.26938	0.089574106	0.20955	0.114094384	0.26938	0.089574106	0.20954	-10.234	0.75300	D	.	.	0.422	0.60772	A	.;.	.;.	0.262681	0.06410	2.878	0.99195560496892443	0.55112	0.00614	0.02721	N	AEFGBCI	0.031897	0.03500	N	-0.699461386573928	0.16038	0.8135784	-0.876646511485983	0.12648	0.6518433	4.09036700427026E-4	0.06860	0.676563	0.55306	0	0.550933	0.16991	0	0.673471	0.61138	0	0.604944	0.38103	0	.	.	4.46	0.583	0.16599	-2.326000	0.01195	-20.000000	0.00162	-1.603000	0.00891	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0948:0.3022:0.603:0.0	9.036	0.35447	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	578.11	342	chr19	4511388	.	C	G	578.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.79;DP=7426;ExcessHet=0.1072;FS=53.914;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.02;MQRankSum=-2.183e+00;QD=1.97;ReadPosRankSum=-1.400e-01;SOR=4.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:259,23:282:99:0|1:4511363_CCA_C:186,0,10806:4511363	19	0	2	0
chr19	4511563	4511563	C	0	exonic	PLIN4	.	.	.	.	.	463	531	326	1	201	529	0.235971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	17845.03	225	chr19	4511563	.	C	G,*	17845.03	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=2.12;DP=9752;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.1556;MLEAC=7,1;MLEAF=0.250,0.036;MQ=59.57;MQRankSum=-4.184e+00;QD=4.80;ReadPosRankSum=-5.230e+00;SOR=0.700	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:409,102,0:511:99:0|1:4511563_C_G:3014,0,16867,4246,17174,21419:4511563	8	0	5	7
chr19	4511566	4511566	A	0	exonic	PLIN4	.	.	.	.	.	415	583	322	1	201	525	0.21745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	16971.48	491	chr19	4511566	.	A	G,*	16971.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=-9.560e-01;DP=10566;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.53;MQRankSum=-3.775e+00;QD=4.50;ReadPosRankSum=-5.408e+00;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:426,101,0:527:99:0|1:4511563_C_G:2927,0,17584,4209,17888,22097:4511563	5	0	5	10
chr19	4511568	4511568	C	0	exonic	PLIN4	.	.	.	.	.	436	567	317	1	201	520	0.219546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	16047.48	490	chr19	4511568	.	C	T,*	16047.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=-4.580e-01;DP=10596;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.50;MQRankSum=-3.556e+00;QD=4.25;ReadPosRankSum=-5.809e+00;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:431,97,0:528:99:0|1:4511563_C_G:2776,0,17806,4073,18098,22171:4511563	5	0	5	10
chr19	4511569	4511569	A	0	exonic	PLIN4	.	.	.	.	.	438	565	317	1	201	520	0.220152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	15602.48	490	chr19	4511569	.	A	G,*	15602.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=5.73;DP=10604;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.48;MQRankSum=-3.635e+00;QD=4.12;ReadPosRankSum=-5.967e+00;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:432,95,0:527:99:0|1:4511563_C_G:2689,0,17854,3989,18140,22129:4511563	5	0	5	10
chr19	4511586	4511586	A	0	exonic	PLIN4	.	.	.	.	.	414	637	269	1	201	472	0.175405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	8809.48	466	chr19	4511586	.	A	G,*	8809.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=3.88;DP=10439;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.07;MQRankSum=-2.351e+00;QD=2.30;ReadPosRankSum=-8.743e+00;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:495,69,0:564:99:0|1:4511563_C_G:1381,0,20577,2871,20785,23656:4511563	5	0	5	10
chr19	4511587	4511587	C	0	exonic	PLIN4	.	.	.	.	.	408	646	266	1	201	469	0.171795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	8200.48	466	chr19	4511587	.	C	G,*	8200.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=2.38;DP=10432;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.03;MQRankSum=-2.455e+00;QD=2.14;ReadPosRankSum=-8.658e+00;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:497,68,0:565:99:0|1:4511563_C_G:1333,0,20664,2829,20869,23698:4511563	5	0	5	10
chr19	4511635	4511635	C	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	177671.52	322	chr19	4511635	.	C	G,*	177671.52	.	AC=25,1;AF=0.833,0.033;AN=30;BaseQRankSum=-7.580e-01;DP=10056;ExcessHet=0.2174;FS=0.730;InbreedingCoeff=0.2169;MLEAC=32,1;MLEAF=1.00,0.033;MQ=57.70;MQRankSum=-7.188e+00;QD=24.86;ReadPosRankSum=1.56;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:354,224,0:578:99:.:.:5070,0,13216,6135,13883,20018	0	10	4	6
chr19	4511934	4511934	-	CGCAGCACCGGTCACCCCACTGCA	exonic	PLIN4	.	nonframeshift insertion	PLIN4:NM_001367868:exon5:c.2025_2026insTGCAGTGGGGTGACCGGTGCTGCG:p.V675_N676insCSGVTGAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.105e-05	3.305e-05	6.872e-06	1.526e-05	3.036e-05	6.54e-06	5.29e-06	7.37e-06	5.77e-06	3.036e-05	0	0	0	0	0	1.271e-05	1.671e-05	0	2.007e-05	2.65e-05	1.305e-05	2.745e-05	6.678e-05	5.34e-06	2.48e-06	.	.	2.48e-05	0	6.678e-05	0	0	0	0	1.482e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2496.94	368	chr19	4511934	.	T	TCGCAGCACCGGTCACCCCACTGCA	2496.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.85;DP=9826;ExcessHet=0.0000;FS=4.919;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.58;MQRankSum=-1.747e+01;QD=3.87;ReadPosRankSum=-8.285e+00;SOR=1.251	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:547,99:646:99:0|1:4511908_T_C:2511,0,22633:4511908	20	0	1	0
chr19	4670324	4670324	G	C	exonic	MYDGF	.	nonsynonymous SNV	MYDGF:NM_019107:exon1:c.C11G:p.P4R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.873	P	0.759	P	0.275	N	0.745	D	1.1	L	0.49	T	-0.559	T	0.203	T	0.353	4.273	22.3	3.86	1.081	3.862	12.280	0.278	.	0.0016	0.00159744	0.0016	0.0220	0.0128	0	0	0.0005	0	0	0.0003363	52	154602	rs376938392	0.0003	0.0003	0.0003	0.0003	0.0107	0.0003	0.0003	0.0096	0.0092	0.0107	0.0018	0	0	0	0.0006	3.569e-05	0.0008	0	0.0034	0.0034	0.0035	0.0033	0.0117	0.0032	0.0031	0.0108	0.0105	0.0117	0	0.0016	0	0	0	0.0034	0.0001	0.0019	0	0.028	0.46129	D	0.0	0.92824	D	0.873	0.47975	P	0.759	0.56370	P	0.275016	0.15054	N	0.599918	0.744699	0.33861	D	.	.	.	0.49	0.59314	T	-0.91	0.24460	N	0.492	0.61426	-0.5593	0.66430	T	0.203	0.56003	T	10	0.007411152	0.00169	T	.	.	.	0.278	0.59497	.	.	0.222439326576	0.21863	0.6150231850513328	0.61434	1.35893517082	0.84265	.	.	.	0.088001	0.38064	T	-0.366304	0.03785	T	-0.288559	0.45923	T	0.0766957929538974	0.09559	T	0.535446	0.17943	T	0.1842148	0.39726	0.24728286	0.50255	0.1842148	0.39725	0.24728286	0.50254	-2.299	0.04549	T	.	.	0.116	0.23675	B	.;.	.;.	4.822652	0.78566	26.9	0.99752577221420491	0.84382	0.90526	0.51775	D	ALL	0.705736	0.66103	D	0.268823526862595	0.54575	3.622815	0.266231362451277	0.53577	3.52606	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.273489	0.05413	2	.	.	4.9	3.86	0.43689	3.213000	0.50855	8.042000	0.76319	0.584000	0.30380	1.000000	0.71638	1.000000	0.68203	0.777000	0.36790	0.0827:0.0:0.9173:0.0	12.280	0.54076	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	677.98	34	chr19	4670324	.	G	C	677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.009e+00;DP=788;ExcessHet=0.0000;FS=1.007;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=-5.110e-01;SOR=0.540	GT:AD:DP:GQ:PL	0/1:29,31:60:99:692,0,710	20	0	1	0
chr19	5223178	5223178	G	A	exonic	PTPRS	.	nonsynonymous SNV	PTPRS:NM_130854:exon14:c.C2548T:p.R850C	.	.	.	.	.	.	.	.	.	.	.	3204177	PTPRS-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.97	D	0.000	U	1.000	D	2.045	M	0.39	T	-0.409	T	0.315	T	0.773	2.952	15.84	4.22	2.196	6.174	16.792	0.279	0.143020875048	0.0007	0.000599042	0.0014	0.0058	0.0050	0	0	0.0003	0	0.0010	0.000414	64	154602	rs151114416	0.0002	0.0002	0.0002	0.0002	0.0029	0.0002	0.0002	0.0024	0.0023	0.0029	0.0011	0	2.727e-05	0	0.0026	9.944e-05	0.0008	0.0002	0.0010	0.0010	0.0010	0.0011	0.0031	0.0009	0.0009	0.0027	0.0025	0.0031	0	0.0010	0	0	0	0	0.0002	0.0014	0	.	.	.	0.061	0.47581	T	1.0	0.90584	D	0.97	0.72226	D	0.000002	0.62929	U	0.000000	1	0.81001	D	2.52	0.73523	M	0.39	0.57419	T	.	.	.	0.785	0.83066	-0.4090	0.71742	T	0.315	0.68486	T	10	0.040696263	0.02661	T	0.143021	0.82537	D	.	.	.	.	0.334885890373	0.33091	0.5672514940401855	0.56653	.	.	0.624329805374	0.56341	T	0.398936	0.75692	T	-0.149347	0.28414	T	0.0093321	0.70939	D	0.0284376771749063	0.01751	T	0.996	0.98527	D	0.4768847	0.65711	0.35093856	0.60695	0.4768847	0.65712	0.35093856	0.60695	-10.877	0.80312	D	.	.	0.722	0.73851	P	.;.	.;.	5.253289	0.88202	29.5	0.99928431686788177	0.99222	0.97607	0.75865	D	AEFBI	0.844643	0.76159	D	0.532639521033732	0.69031	5.299722	0.44685290476968	0.64513	4.70843	0.712683114551297	0.22838	0.718356	0.82227	0	0.844039	0.99811	0	0.570548	0.19454	0	0.699875	0.68795	0	.	.	4.22	4.22	0.49153	6.484000	0.73529	7.184000	0.57757	0.585000	0.30472	1.000000	0.71638	1.000000	0.68203	0.632000	0.32210	0.0:0.0:1.0:0.0	16.792	0.85453	976	0.04745	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1883.98	35	chr19	5223178	.	G	A	1883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=838;ExcessHet=0.0000;FS=3.001;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=0.638;SOR=0.933	GT:AD:DP:GQ:PL	0/1:67,75:142:99:1898,0,1525	20	0	1	0
chr19	7871678	7871678	G	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C1566G:p.D522E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	.	.	.	.	.	.	0.996	N	0	N	.	.	-0.998	T	0.035	T	0.085	0.963	8.927	0.534	0.295	1.986	5.982	0.014	0.00631720991641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0061	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	8.002e-05	2.812e-05	0	0.0004	0.0003	0.0003	6.372e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.125	0.11769	-0.9982	0.30423	T	0.035	0.15291	T	6	0.06605524	0.09003	T	0.006317	0.16610	T	.	.	.	.	0.0401082797425	0.02173	0.04024571050867364	0.03970	.	.	0.37946036458	0.22180	T	0.013956	0.11972	T	-0.255113	0.13478	T	-0.604228	0.12458	T	0.0270435322631717	0.01550	T	0.30037	0.05618	T	0.023964053	0.01182	0.025669742	0.00620	0.023964053	0.01182	0.025669742	0.00619	-5.088	0.37780	T	.	.	0.367	0.57658	A	.	.	1.113604	0.14988	11.50	0.53643305433940836	0.04980	0.10200	0.15772	N	ALL	.	.	.	-0.794969245513708	0.13441	0.6621338	-0.886495899590302	0.12413	0.638379	0.999999999661444	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	0.534	0.16320	0.450000	0.21475	0.712000	0.20944	0.606000	0.46413	0.025000	0.20085	0.000000	0.08366	0.014000	0.10232	0.353:0.0:0.647:0.0	5.982	0.18645	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	769.34	89	chr19	7871678	.	G	C	769.34	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-3.686e+00;DP=1708;ExcessHet=6.1002;FS=184.238;InbreedingCoeff=-0.3275;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=0.97;ReadPosRankSum=0.814;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,16:83:50:.:.:50,0,1557	10	0	10	1
chr19	7899974	7899974	C	A	exonic	LRRC8E	.	nonsynonymous SNV	LRRC8E:NM_001268285:exon2:c.C1065A:p.D355E	.	.	425	1074	22	1	0	24	0.0110497	.	.	705347	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.004	B	0.012	B	0.000	D	0.994	D	-0.725	N	2.54	T	-1.034	T	0.044	T	0.114	0.591	7.186	2.47	0.560	0.968	9.349	0.077	.	0.0062	0.00459265	0.0071	0.0013	0.0061	0	0.0004	0.0068	0.0147	0.0180	0.0065588	1014	154602	rs139734410	0.0072	0.0072	0.0069	0.0075	0.0180	0.0071	0.0071	0.0172	0.0169	0.0013	0.0063	0.0028	0	0.0008	0.0139	0.0072	0.0079	0.0180	0.0051	0.0051	0.0053	0.0050	0.0159	0.0048	0.0047	0.0131	0.0120	0.0014	0	0.0082	0.0032	0.0002	0.0006	0.0102	0.0071	0.0061	0.0159	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.012	0.16012	B	0.000009	0.62929	D	0.108394	0.99396	0.42113	D	-0.235	0.03917	N	2.54	0.13916	T	0.73	0.02068	N	0.05	0.02462	-1.0340	0.19173	T	0.044	0.18906	T	10	0.0054863393	0.00121	T	.	.	.	0.077	0.22490	0.249	0.18602	0.813227198809	0.81147	0.3707776527949292	0.36991	0.524025361125	0.50104	0.534387230873	0.43652	T	6.92E-4	0.00312	T	-0.643043	0.00080	T	-0.682183	0.06851	T	0.00601580858012532	0.00066	T	0.469153	0.13854	T	0.05779374	0.11547	0.05127226	0.08218	0.05779374	0.11546	0.05127226	0.08217	-3.557	0.17239	T	.	.	0.141	0.32104	B	.;.	.;.	1.645428	0.20997	15.00	0.89837237562902206	0.19145	0.79514	0.39416	D	AEFBCI	0.598665	0.59197	D	-0.181760965099369	0.33894	1.928249	-0.0812631321917535	0.36164	2.101208	0.999151374346199	0.38592	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.64	2.47	0.29113	0.785000	0.26491	1.400000	0.26189	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8333:0.0:0.1667	9.349	0.37291	878	0.29785	.;.	SNAPC2	Heart_Atrial_Appendage	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	624.98	39	chr19	7899974	.	C	A	624.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.530;DP=884;ExcessHet=0.0000;FS=5.121;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=0.607;SOR=1.380	GT:AD:DP:GQ:PL	0/1:42,24:66:99:639,0,1150	20	0	1	0
chr19	7910783	7910872	CTGGGCAAGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAGGATGACAGAGGCGGTGAGTGACCAGGCGGGGCGTGCA	-	exonic	MAP2K7	.	nonframeshift deletion	MAP2K7:NM_001297556:exon6:c.655_675del:p.L219_A225del	.	.	426	1075	20	1	0	22	0.0101289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0001	0.0001	0	0	0.0004	0.0029	0.0058	0.0001921	5	26028	.	0.0067	0.0067	0.0064	0.0070	0.0173	0.0066	0.0065	0.0166	0.0163	0.0012	0.0059	0.0026	0	0.0007	0.0121	0.0066	0.0075	0.0173	0.0046	0.0046	0.0048	0.0045	0.0148	0.0043	0.0042	0.0121	0.0110	0.0012	0	0.0079	0.0032	0.0002	0.0006	0.0068	0.0063	0.0052	0.0148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1719.94	33	chr19	7910782	.	TCTGGGCAAGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAGGATGACAGAGGCGGTGAGTGACCAGGCGGGGCGTGCA	T	1719.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=1006;ExcessHet=0.0000;FS=0.619;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.65;MQRankSum=-1.350e+00;QD=12.29;ReadPosRankSum=-4.543e+00;SOR=0.635	GT:AD:DP:GQ:PL	0/1:67,73:140:99:1734,0,2599	20	0	1	0
chr19	7922324	7922324	G	A	exonic	SNAPC2	.	nonsynonymous SNV	SNAPC2:NM_003083:exon4:c.G662A:p.R221H,	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.0	B	0.0	B	0.168	N	1.000	N	-1.79	N	0.9	T	-1.062	T	0.031	T	0.143	-0.201	3.024	0.968	0.023	0.535	4.158	0.071	0.0033880742617	0.0003	.	8.333e-05	0	0	0	0	0.0001	0	6.32e-05	6.47e-05	10	154602	rs146930849	7.802e-05	7.867e-05	8.171e-05	7.429e-05	0.0005	6.602e-05	6.145e-05	0.0001	7.546e-05	2.987e-05	4.474e-05	0	2.519e-05	0	0.0005	8.455e-05	0.0001	6.958e-05	6.571e-05	6.567e-05	0.0001	2.69e-05	8.82e-05	3.517e-05	2.616e-05	3.762e-05	2.575e-05	7.242e-05	0	6.541e-05	0	0	0	0	8.82e-05	0	0	0.32	0.13566	T	0.347	0.17640	T	0.0	0.02946	B	0.0	0.01387	B	0.168090	0.03089	N	1.593120	1	0.08975	N	-1.65	0.00388	N	0.9	0.45248	T	2.52	0.00229	N	0.153	0.15749	-1.0615	0.11385	T	0.031	0.13242	T	10	0.025061458	0.00712	T	0.003388	0.07603	T	0.071	0.20720	.	.	0.143124449307	0.13826	0.13007525622455576	0.12932	0.0694686119329	0.07775	0.244270712137	0.03188	T	9.22E-4	0.00478	T	-0.450598	0.01120	T	-0.659327	0.08312	T	0.0162468591026293	0.00397	T	0.435856	0.11948	T	0.010579763	0.00008	0.015265773	0.00006	0.010579763	0.00008	0.015265773	0.00006	-4.161	0.26185	T	.	.	0.065	0.01986	B	.	.	0.326612	0.07010	3.566	0.66735574084619786	0.08146	0.00456	0.02204	N	AEFBCI	0.046263	0.07661	N	-1.43676039396629	0.02322	0.1024351	-1.35180659775772	0.03785	0.1772533	0.999621327773551	0.41093	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.55	0.968	0.18799	-0.100000	0.10959	-0.143000	0.11497	-0.794000	0.03222	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.5206:0.2481:0.2313:0.0	4.158	0.09733	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2641.98	34	chr19	7922324	.	G	A	2641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=914;ExcessHet=0.0000;FS=1.054;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=-9.330e-01;SOR=0.646	GT:AD:DP:GQ:PL	0/1:112,101:213:99:2656,0,2694	20	0	1	0
chr19	8138490	8138490	G	T	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon9:c.C940A:p.R314S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.608	P	0.23	B	0.022	U	0.999	N	1.15	L	-3.12	D	-0.295	T	0.570	D	0.306	2.626	14.74	2.87	1.974	6.198	9.106	0.405	0.0473015502715	.	.	.	.	.	.	.	.	.	.	.	.	.	rs753107151	3.423e-06	4.104e-06	0	6.879e-06	4.639e-05	1e-06	7.3e-07	1.583e-05	9.3e-06	0	0	0	0	1.902e-05	0	0	0	4.639e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.002	0.72154	D	0.005	0.72224	D	0.608	0.39540	P	0.23	0.38212	B	0.021550	0.26810	U	0.360841	0.999246	0.21461	N	1.935	0.51832	L	-3.12	0.92774	D	-1.66	0.39692	N	0.214	0.23884	-0.2952	0.75119	T	0.570	0.84444	D	10	0.35278967	0.52100	T	0.047302	0.62860	D	0.405	0.71791	0.702	0.83869	0.799327555895	0.79745	0.5120079426920053	0.51122	0.224318780374	0.24958	0.296723723412	0.09914	T	0.183801	0.53626	T	0.0216909	0.54609	T	-0.105989	0.62929	T	0.665866553783417	0.39154	D	0.948005	0.79945	D	0.6462816	0.75165	0.5097127	0.71666	0.6462816	0.75167	0.5097127	0.71667	-9.354	0.69946	D	.	.	0.200	0.42390	B	.;.;.	.;.;.	3.074507	0.41339	21.3	0.99290548605896367	0.58255	0.49690	0.28491	N	AEFDBI	0.209475	0.33546	N	-0.074062845105362	0.38534	2.258293	-0.0749564425894651	0.36429	2.119907	0.142317902113493	0.17296	0.631515	0.41029	0	0.547309	0.14657	0	0.697927	0.64325	0	0.613276	0.41899	0	.	.	4.06	2.87	0.32523	4.988000	0.63592	.	.	0.669000	0.69127	0.999000	0.42656	0.000000	0.08366	0.896000	0.43308	0.0:0.0:0.5077:0.4923	9.106	0.35860	934	0.15400	TB domain|TB domain;TB domain|TB domain;TB domain|TB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	673.98	37	chr19	8138490	.	G	T	673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.196;DP=805;ExcessHet=0.0000;FS=3.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=0.635;SOR=0.307	GT:AD:DP:GQ:PL	0/1:36,26:62:99:688,0,1000	20	0	1	0
chr19	8144930	8144930	C	T	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon6:c.G488A:p.G163E	.	.	.	.	.	.	.	.	.	.	.	1567272	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	U	1.000	D	1.665	L	-2.21	D	0.570	D	0.726	D	0.76	3.594	18.30	3.94	1.934	4.277	14.905	0.705	0.0253399543534	.	0.000998403	0.0007	0	0	0	0	1.779e-05	0	0.0054	0.000511	79	154602	rs373422307	0.0003	0.0003	0.0001	0.0004	0.0039	0.0002	0.0002	0.0036	0.0035	2.988e-05	0	0	0	0	0.0005	4.498e-06	0.0003	0.0039	0.0001	0.0001	0.0001	0.0002	0.0042	9.148e-05	7.703e-05	0.0028	0.0023	0	0	0	0	0	0	0	1.47e-05	0	0.0042	0.002	0.72154	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	U	0.000000	0.999969	0.52935	D	1.94	0.52218	M	-2.21	0.86963	D	-4.87	0.81269	D	0.863	0.87917	0.570	0.91503	D	0.726	0.90607	D	10	0.054119915	0.05713	T	0.02534	0.48313	D	0.705	0.89422	.	.	0.876531375998	0.87532	0.5330670079532958	0.53231	0.859916652341	0.68908	0.644229948521	0.59165	T	0.187046	0.54053	T	-0.0599788	0.42911	T	0.140787	0.79595	D	0.245530770978215	0.22671	T	0.873313	0.58144	D	0.7956616	0.83630	0.77743065	0.86871	0.7956616	0.83631	0.77743065	0.86872	-8.929	0.67239	D	.	.	0.318	0.54368	B	.;.;.	.;.;.	4.056353	0.60165	24.2	0.99743799241169351	0.83703	0.94572	0.61602	D	AEFDBI	0.763458	0.70055	D	0.39201848409901	0.60990	4.294	0.305562582053453	0.55864	3.749444	0.999995641732155	0.74766	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	3.94	3.94	0.44807	7.448000	0.79687	.	.	0.469000	0.21855	1.000000	0.71638	0.669000	0.26057	0.530000	0.29707	0.0:1.0:0.0:0.0	14.905	0.70355	940	0.13648	EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	902.98	36	chr19	8144930	.	C	T	902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=799;ExcessHet=0.0000;FS=1.768;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=-3.270e-01;SOR=0.980	GT:AD:DP:GQ:PL	0/1:54,37:91:99:917,0,1339	20	0	1	0
chr19	8888745	8888745	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40754T:p.T13585I,	.	.	393	977	1	2	149	154	0.00255232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.984	D	0.964	D	.	.	.	.	0.49	N	2.21	T	-1.029	T	0.047	T	0.503	2.024	12.72	1.25	0.783	0.218	4.503	0.021	0.00806063036646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75266616	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.066e-05	0.0052	9.833e-05	6.207e-05	0.0003	3.961e-05	2.899e-05	3.435e-05	1.476e-05	0.0001	0	0.0002	0	0.0003	0.0001	0	2.348e-05	0	0	0.007	0.59928	D	0.117	0.36365	T	.	.	.	.	.	.	.	.	.	.	0.999919	0.19599	N	.	.	.	2.21	0.18414	T	-1.31	0.32791	N	0.284	0.32148	-1.0288	0.20843	T	0.047	0.19958	T	8	0.19550985	0.35406	T	0.008061	0.21368	T	0.147	0.38986	.	.	0.15556083564	0.15200	0.2225390080387863	0.22168	.	.	0.375644803047	0.21638	T	.	.	.	-0.16957	0.25299	T	-0.481352	0.24304	T	0.344821783264657	0.26815	T	0.0674933	0.00492	T	.	.	.	.	.	.	.	.	-7.428	0.57102	T	.	.	0.116	0.23360	B	.	.	1.705751	0.21725	15.32	0.9981530341282232	0.89885	0.47447	0.27985	N	AEFBI	0.095609	0.19314	N	-0.156012332511241	0.34978	2.00343	-0.1738091635021	0.32503	1.849856	1.14764749978257E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.25	0.20475	-0.043000	0.11996	.	.	-0.132000	0.13132	0.926000	0.32145	0.000000	0.08366	0.009000	0.08673	0.1321:0.2319:0.6359:0.0	4.503	0.11285	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2778	8877.76	382	chr19	8888745	.	G	A,C	8877.76	.	AC=6,4;AF=0.167,0.111;AN=36;BaseQRankSum=-3.070e-01;DP=10156;ExcessHet=6.1002;FS=0.787;InbreedingCoeff=-0.3771;MLEAC=7,4;MLEAF=0.194,0.111;MQ=56.21;MQRankSum=-1.029e+01;QD=1.61;ReadPosRankSum=-1.286e+00;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:527,58,31:616:99:.:.:733,0,22844,1523,17865,19430	8	0	6	3
chr19	8888746	8888746	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40753C:p.T13585P,	.	.	389	1129	2	2	0	6	0.00265018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.986	D	0.964	D	.	.	.	.	1.04	L	1.83	T	-0.975	T	0.078	T	0.685	2.193	13.29	1.26	0.083	0.610	2.783	0.243	0.0120267409717	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796543936	6.848e-07	0.0002	1.363e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	8.155e-05	0.0054	7.944e-05	8.377e-05	0.0003	3.999e-05	2.926e-05	3.581e-05	1.462e-05	7.564e-05	0	0.0002	0	0.0003	0.0001	0	4.466e-05	0	0	0.003	0.68238	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	0.999901	0.19694	N	.	.	.	1.83	0.24841	T	-1.47	0.35991	N	0.343	0.38438	-0.9752	0.36082	T	0.078	0.31224	T	8	0.23827633	0.40944	T	0.012027	0.30231	T	0.243	0.54921	.	.	0.183819452728	0.17975	0.3716080186309978	0.37074	.	.	0.330018043518	0.14937	T	.	.	.	-0.0267869	0.47882	T	-0.276254	0.47187	T	0.55762339756057	0.34765	D	0.381362	0.09225	T	.	.	.	.	.	.	.	.	-9.731	0.72285	D	.	.	0.197	0.41903	B	.	.	1.973733	0.25071	16.63	0.99543563627523812	0.70648	0.56973	0.30255	D	AEFBI	0.258310	0.37687	N	0.00527281236618241	0.42094	2.529898	-0.0874775071530277	0.35907	2.083018	1.07242915990077E-5	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.26	0.20534	0.979000	0.29098	.	.	0.639000	0.52094	0.948000	0.32982	0.000000	0.08366	0.008000	0.08271	0.2207:0.1276:0.0:0.6517	2.783	0.05037	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	3176.11	382	chr19	8888746	.	T	G	3176.11	.	AC=7;AF=0.194;AN=36;BaseQRankSum=0.772;DP=10365;ExcessHet=2.5830;FS=7.108;InbreedingCoeff=-0.2519;MLEAC=8;MLEAF=0.222;MQ=55.81;MQRankSum=-1.024e+01;QD=0.81;ReadPosRankSum=-3.634e+00;SOR=1.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:570,58:628:99:0|1:8888735_C_T:719,0,23717:8888735	11	0	7	3
chr19	8888763	8888763	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40736T:p.T13579I,	.	.	386	1130	5	1	0	7	0.00308778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.984	D	0.964	D	.	.	.	.	2.79	M	1.22	T	-0.601	T	0.206	T	0.319	0.402	6.184	0.756	0.311	2.938	8.036	0.147	0.0225181638308	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796202949	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0097	0.0001	0.0003	0.0007	0.0001	0.0001	0.0002	9.48e-05	0.0003	0	0.0005	0	0.0007	0.0002	0	7.466e-05	0.0009	0	0.033	0.44358	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.22	0.37052	T	-1.81	0.42575	N	0.404	0.44474	-0.6010	0.64776	T	0.206	0.56485	T	8	0.24742359	0.42022	T	0.022518	0.45416	T	0.147	0.38986	.	.	0.152612264143	0.14878	0.39111607982275465	0.39026	.	.	0.523282647133	0.42088	T	.	.	.	-0.124778	0.32344	T	-0.417012	0.31417	T	0.544527530670166	0.34273	D	0.880912	0.59977	D	.	.	.	.	.	.	.	.	-7.332	0.56422	T	.	.	0.329	0.55117	B	.	.	1.296456	0.16976	12.88	0.99442054032056237	0.64820	0.46543	0.27783	N	AEFDBI	0.122787	0.23810	N	-0.257393938749385	0.30808	1.721402	-0.491271942611007	0.22393	1.216053	6.92005012073932E-5	0.04366	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	0.756	0.17569	2.264000	0.42959	.	.	-0.761000	0.03509	0.990000	0.36992	0.209000	0.23629	0.000000	0.00833	0.0:0.0:0.6164:0.3836	8.036	0.29653	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5532.55	398	chr19	8888763	.	G	A	5532.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-8.400e-01;DP=10822;ExcessHet=2.5830;FS=10.808;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=55.93;MQRankSum=-8.753e+00;QD=1.32;ReadPosRankSum=-9.860e-01;SOR=1.809	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:598,65:663:99:0|1:8888763_G_A:929,0,24858:8888763	14	0	7	0
chr19	8888803	8888803	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon56:c.C40696T:p.Q13566X,	.	.	387	1065	65	0	5	70	0.0296128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.702	14.99	1.01	0.786	-0.955	7.596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749709179	2.751e-06	0.0003	1.368e-06	4.147e-06	2.346e-05	6.4e-07	4.3e-07	3.89e-06	1.46e-06	0	0	0	0	1.892e-05	0	9.032e-07	0	2.346e-05	0.0003	0.0078	0.0003	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0004	0	0.0002	0.0003	0.0006	0.0003	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382006	0.88838	D	0.310949	0.88697	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.510432	0.97656	37	0.99651539778950882	0.77317	0.04167	0.09661	N	AEFDBI	0.050545	0.08845	N	0.108967690324694	0.46882	2.921777	-0.235756191989301	0.30265	1.702583	7.40119793528929E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.01	0.19044	-1.404000	0.02601	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.0:0.5377:0.4623	7.596	0.27215	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	9208.93	410	chr19	8888803	.	G	A	9208.93	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.183e+00;DP=10099;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2685;MLEAC=9;MLEAF=0.214;MQ=57.32;MQRankSum=-7.194e+00;QD=2.03;ReadPosRankSum=1.87;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:512,106:618:99:.:.:2434,0,20439	12	0	9	0
chr19	8888822	8888826	GCTTT	0	exonic	MUC16	.	.	.	.	.	412	698	370	1	41	413	0.210407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	23587.18	358	chr19	8888822	.	GCTTT	G,*,TCTTT	23587.18	.	AC=17,3,1;AF=0.405,0.071,0.024;AN=42;BaseQRankSum=1.15;DP=9724;ExcessHet=54.0936;FS=9.916;InbreedingCoeff=-1.0000;MLEAC=17,3,1;MLEAF=0.405,0.071,0.024;MQ=57.12;MQRankSum=-1.109e+01;QD=2.75;ReadPosRankSum=0.578;SOR=1.311	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:327,89,81,0:525:99:.:.:2489,0,14230,550,11437,14739,3626,14114,14566,18595	0	0	17	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	1541.22	352	chr19	8888826	.	T	*,TCCGA	1541.22	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=2.89;DP=8436;ExcessHet=43.6797;FS=10.909;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.52;MQRankSum=-9.389e+00;QD=0.19;ReadPosRankSum=0.933;SOR=1.413	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:340,78,61:479:99:0|1:8888826_T_*:2252,0,14042,714,11715,14807:8888826	1	0	19	0
chr19	8888876	8888876	A	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.T40623G:p.D13541E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.974	D	0.981	D	.	.	.	.	1.87	L	0.93	T	-0.870	T	0.138	T	0.106	1.808	12.01	1.34	0.110	-2.020	5.128	0.020	0.0184576829843	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	.	5.187e-06	0.0002	1.454e-06	9.063e-06	7.562e-05	2.16e-06	1.39e-06	2.908e-05	1.903e-05	0	0	0	0	0	0	1.894e-06	0	7.562e-05	6.798e-06	0.0010	1.324e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.035	0.43708	D	0.106	0.37872	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.93	0.44065	T	-0.43	0.14390	N	0.28	0.31702	-0.8696	0.50559	T	0.138	0.45451	T	8	0.102479935	0.18784	T	0.018458	0.40531	T	0.039	0.10176	.	.	0.258283824007	0.25425	0.03204328302232783	0.03152	.	.	0.32660266757	0.14420	T	.	.	.	-0.294743	0.09164	T	-0.661154	0.08189	T	0.18441400232506	0.19509	T	0.513049	0.16451	T	.	.	.	.	.	.	.	.	-7.397	0.56883	T	.	.	0.179	0.38959	B	.	.	0.370493	0.07427	4.059	0.97250488420208558	0.33038	0.04086	0.09547	N	AEFDBI	0.058217	0.10907	N	-0.810373198274173	0.13044	0.6399203	-0.987335908183308	0.10069	0.5048391	7.79589708737315E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.48	1.34	0.21018	-1.962000	0.01605	.	.	0.710000	0.85309	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.7372:0.0:0.2628:0.0	5.128	0.14225	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1768.1	212	chr19	8888876	.	AT	A,CT	1768.1	.	AC=3,3;AF=0.071,0.071;AN=42;BaseQRankSum=4.52;DP=5111;ExcessHet=1.7912;FS=20.289;InbreedingCoeff=-0.1690;MLEAC=3,3;MLEAF=0.071,0.071;MQ=57.83;MQRankSum=-6.910e-01;QD=1.13;ReadPosRankSum=0.837;SOR=3.215	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:270,28,0:298:99:0|1:8888876_AT_A:365,0,11214,1178,11300,12477:8888876	15	0	3	0
chr19	8899972	8899972	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.A39013G:p.T13005A,	.	.	419	1095	8	0	0	8	0.00363967	0	0.03	3210996	MUC16-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	.	.	-1.87	N	4.67	T	-0.925	T	0.001	T	0.052	-0.720	0.909	-2.32	-0.515	0.101	2.013	0.024	0.00749902169758	.	.	1.661e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs756739393	1.369e-06	1.368e-06	1.362e-06	1.376e-06	4.472e-05	2.3e-07	9e-08	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	0	0	2.836e-05	0.0017	0	5.868e-05	2.66e-05	9.63e-06	5.47e-06	.	.	2.66e-05	0	0	0	0	0.0003	0	0	0	0	0.845	0.02774	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	4.67	0.01735	T	1.1	0.01229	N	0.045	0.01740	-0.9255	0.44786	T	0.001	0.00467	T	7	0.021653622	0.00522	T	0.007499	0.19899	T	0.024	0.04979	0.153	0.05648	0.0138822411134	0.00435	0.07225205961657089	0.07162	.	.	0.242049396038	0.02977	T	.	.	.	-0.549186	0.00295	T	-0.829673	0.01268	T	0.0531765688373252	0.06049	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-6.763	0.52283	T	.	.	0.059	0.00834	B	.	.	0.265119	0.06434	2.903	0.15376159983054832	0.00374	0.00009	0.00143	N	AEFBI	0.015378	0.00290	N	-2.18627876915683	0.00082	0.003520834	-2.16957185045865	0.00131	0.005755971	1.89267803303865E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-0.073000	0.11428	.	.	-2.696000	0.00211	0.011000	0.18532	0.000000	0.08366	0.000000	0.00833	0.2938:0.4676:0.0:0.2386	2.013	0.03280	940	0.13648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	487.16	47	chr19	8899972	.	T	C	487.16	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.437e+00;DP=1756;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0519;MLEAC=2;MLEAF=0.048;MQ=59.19;MQRankSum=-1.505e+01;QD=1.02;ReadPosRankSum=0.366;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,22:267:99:0|1:8899972_T_C:186,0,10221:8899972	19	0	2	0
chr19	8899974	8899974	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39011T:p.T13004I,	.	.	419	1095	8	0	0	8	0.00363967	0.0414	0.372	3214956	MUC16-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.997	D	0.958	D	.	.	.	.	1.735	L	4.43	T	-1.031	T	0.017	T	0.282	-0.196	3.049	1.16	0.926	0.085	5.678	0.045	0.00118460416831	.	.	2.492e-05	0	8.709e-05	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs778952678	8.896e-06	8.893e-06	9.532e-06	8.253e-06	0.0002	4.96e-06	3.83e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	8.996e-06	1.657e-05	1.16e-05	2.122e-05	0.0017	0	4.395e-05	2.653e-05	5.64e-06	2.57e-06	.	.	2.653e-05	0	0	0	0	0.0002	0	0	0	0	0.011	0.55530	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.43	0.02158	T	-2.06	0.47175	N	0.174	0.18649	-1.0313	0.20034	T	0.017	0.07187	T	8	0.12934974	0.24610	T	0.001185	0.01509	T	0.045	0.12272	.	.	0.128392430309	0.12331	0.11902561227878314	0.11829	.	.	0.318150579929	0.13140	T	.	.	.	-0.323778	0.06593	T	-0.57241	0.15230	T	0.219254165887833	0.21427	T	0.221278	0.02853	T	.	.	.	.	.	.	.	.	-7.441	0.57194	T	.	.	0.144	0.31608	B	.	.	1.710829	0.21783	15.35	0.21896655339985072	0.00856	0.01505	0.04982	N	AEFBI	0.034770	0.04364	N	-0.324931602343095	0.28204	1.553715	-0.621172338705613	0.18950	1.014588	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	0.426000	0.21081	.	.	0.526000	0.24426	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	521.68	47	chr19	8899974	.	G	A	521.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.328e+00;DP=1769;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0767;MLEAC=3;MLEAF=0.071;MQ=59.20;MQRankSum=-1.467e+01;QD=0.73;ReadPosRankSum=0.784;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:249,23:272:99:0|1:8899972_T_C:216,0,10386:8899972	18	0	3	0
chr19	8899979	8899979	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39006A:p.S13002R,	.	.	420	1090	12	0	0	12	0.00547445	.	.	3192352	MUC16-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.991	D	0.934	D	.	.	.	.	1.525	L	4.6	T	-1.014	T	0.015	T	0.291	-0.237	2.857	1.16	0.926	-0.777	5.678	0.047	0.00102388544923	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337261124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	0.0019	0	5.902e-05	2.675e-05	9.65e-06	5.49e-06	.	.	2.675e-05	0	0	0	0	0.0003	0	0	0	0	0.005	0.63226	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.6	0.01868	T	-1.27	0.31981	N	0.225	0.25253	-1.0136	0.25784	T	0.015	0.06282	T	8	0.15770155	0.29672	T	0.001024	0.01120	T	0.047	0.12962	0.143	0.04650	0.0920862733494	0.08535	0.15085560951934324	0.15007	.	.	0.265822708607	0.05603	T	.	.	.	-0.261119	0.12768	T	-0.612856	0.11755	T	0.168099865317345	0.18450	T	0.177782	0.01744	T	.	.	.	.	.	.	.	.	-7.626	0.58492	D	.	.	0.224	0.45544	B	.	.	0.282384	0.06594	3.083	0.44924595648877924	0.03489	0.01381	0.04703	N	AEFBI	0.028519	0.02526	N	-0.385439741200818	0.25987	1.414868	-0.673385610186316	0.17627	0.9381749	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	-0.802000	0.04651	.	.	-0.928000	0.02159	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	574.68	47	chr19	8899979	.	G	T	574.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.200e+00;DP=2070;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=59.21;MQRankSum=-1.427e+01;QD=0.79;ReadPosRankSum=0.704;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,25:275:99:0|1:8899972_T_C:297,0,10422:8899972	18	0	3	0
chr19	8900001	8900001	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38984A:p.G12995E,	.	.	417	1065	39	1	0	41	0.0188853	.	.	3221801	MUC16-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.982	D	0.455	P	.	.	.	.	0.85	L	4.58	T	-0.922	T	0.007	T	0.152	-0.449	1.920	0.009	-0.043	-3.145	3.969	0.054	0.00120842336054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796151917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.886e-05	0.0031	1.417e-05	0.0001	0.0002	2.927e-05	2.125e-05	3.799e-05	2.25e-05	0.0001	0	0	0	0	0.0004	0	0	0	0.0002	0.091	0.31834	T	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	-0.88	0.23808	N	0.103	0.08646	-0.9217	0.45320	T	0.007	0.02282	T	8	0.11394003	0.21421	T	0.001208	0.01583	T	0.054	0.15330	0.142	0.04556	0.101711395817	0.09552	0.1462809682678735	0.14550	.	.	0.19396597147	0.00303	T	.	.	.	-0.32769	0.06288	T	-0.708481	0.05374	T	0.163903206586838	0.18155	T	0.165083	0.01523	T	.	.	.	.	.	.	.	.	-6.443	0.49844	T	.	.	0.084	0.09868	B	.	.	-0.242325	0.02882	0.411	0.27013934638062309	0.01321	0.00389	0.01958	N	AEFBI	0.035362	0.04537	N	-0.780672500721295	0.13814	0.6832987	-1.02483553794802	0.09240	0.4585958	8.79614165805569E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	0.00923	0.13400	-2.573000	0.00987	.	.	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.4308:0.0:0.0	3.969	0.08937	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	1154.03	47	chr19	8900001	.	C	T	1154.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.290e-01;DP=2853;ExcessHet=1.7912;FS=1.022;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=59.31;MQRankSum=-1.443e+01;QD=0.76;ReadPosRankSum=1.80;SOR=0.913	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,25:305:99:0|1:8900000_C_T:207,0,11682:8900000	15	0	6	0
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H,	.	.	419	985	117	1	0	119	0.0569651	.	.	3206446	MUC16-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.289	B	0.104	B	.	.	.	.	0.85	L	4.62	T	-0.937	T	0.005	T	0.187	-0.708	0.946	-2.32	-0.921	-3.230	2.997	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	2350.15	47	chr19	8900017	.	C	G	2350.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.351;DP=3884;ExcessHet=11.8493;FS=0.993;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=59.12;MQRankSum=-1.468e+01;QD=0.70;ReadPosRankSum=1.95;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:281,24:305:99:0|1:8900000_C_T:162,0,11666:8900000	8	0	13	0
chr19	8906329	8906329	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37990C:p.W12664R,	.	.	426	1037	58	1	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	.	.	-1.2	N	1.56	T	-1.012	T	0.021	T	0.117	-0.969	0.308	-2.96	-2.363	-1.255	4.013	0.022	0.00123485330843	.	.	1.69e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs752664873	1.713e-05	7.251e-05	1.909e-05	1.516e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.246e-05	0	2.52e-05	0	0	2.071e-05	0	0	9.122e-05	0.0074	9.589e-05	8.632e-05	0.0002	5.38e-05	4.211e-05	6.784e-05	4.563e-05	0.0002	0	0	0	0.0002	0.0001	0	7.725e-05	0	0	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.56	0.29602	T	1.73	0.00557	N	0.164	0.17278	-1.0123	0.26196	T	0.021	0.08917	T	8	0.05845517	0.06874	T	0.001235	0.01633	T	0.022	0.04323	0.511	0.60846	0.0666544352282	0.05500	0.12290162140986033	0.12216	.	.	0.17153711617	0.00038	T	.	.	.	-0.364945	0.03858	T	-0.761995	0.03041	T	0.0350373052446737	0.02814	T	0.0657934	0.00479	T	.	.	.	.	.	.	.	.	0.629	0.00188	T	.	.	0.081	0.08417	B	.	.	0.120328	0.05179	1.696	0.50828146212189185	0.04453	0.00012	0.00170	N	AEFBI	0.011720	0.00110	N	-2.20480432650005	0.00075	0.003199722	-2.24327977203405	0.00089	0.003930338	8.9415780060643E-4	0.07974	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-1.082000	0.03510	.	.	-6.395000	0.00004	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5741:0.0:0.2467:0.1792	4.013	0.09120	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1053	676.79	128	chr19	8906329	.	A	G	676.79	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.217e+00;DP=2113;ExcessHet=0.6776;FS=9.405;InbreedingCoeff=-0.1354;MLEAC=4;MLEAF=0.105;MQ=58.89;MQRankSum=-1.215e+01;QD=1.15;ReadPosRankSum=-1.056e+00;SOR=1.361	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,13:175:58:0|1:8906325_A_C:58,0,6763:8906325	15	0	4	2
chr19	8946438	8946438	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.G30332C:p.S10111T,	.	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.013	B	0.01	B	.	.	.	.	0.425	N	1.94	T	-1.012	T	0.024	T	0.096	-0.914	0.409	-5.89	-3.384	-2.588	2.019	0.064	0.0010995266412	8.2e-05	0.000199681	0.0001	0.0001	0	0	0	4.501e-05	0	0.0005	0.0001035	16	154602	rs370757044	4.174e-05	4.173e-05	2.178e-05	6.189e-05	0.0005	3.311e-05	3.001e-05	0.0003	0.0003	5.975e-05	6.711e-05	0	0	0	0	1.349e-05	1.656e-05	0.0005	9.191e-05	9.186e-05	6.422e-05	0.0001	0.0004	5.523e-05	4.361e-05	8.872e-05	5.283e-05	7.215e-05	0	0.0003	0	0	0	0	7.35e-05	0	0.0004	0.194	0.20835	T	0.087	0.40747	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.94	0.22678	T	-1.17	0.29933	N	0.06	0.03175	-1.0125	0.26133	T	0.024	0.10058	T	8	0.019943208	0.00452	T	0.001	0.01312	T	0.064	0.18567	.	.	0.0297737177859	0.01360	0.06683044466146983	0.06621	.	.	0.211163431406	0.00862	T	.	.	.	-0.608763	0.00129	T	-0.762791	0.03013	T	0.0158002780592943	0.00369	T	0.181582	0.01831	T	.	.	.	.	.	.	.	.	-5.002	0.36861	T	.	.	0.099	0.16843	B	.	.	-0.892859	0.00938	0.036	0.11973022487052444	0.00195	0.00346	0.01789	N	AEFBI	0.016943	0.00413	N	-2.12221432384928	0.00114	0.004895776	-2.23754091160977	0.00092	0.004048361	0.912817668340972	0.26405	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.95	-5.89	0.02093	-2.672000	0.00915	.	.	-1.149000	0.01428	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.108:0.276:0.3001:0.316	2.019	0.03291	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2488.98	110	chr19	8946438	.	C	G	2488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=2480;ExcessHet=0.0000;FS=3.263;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=-1.665e+00;SOR=0.754	GT:AD:DP:GQ:PL	0/1:103,90:193:99:2503,0,2683	20	0	1	0
chr19	9414695	9414695	A	G	exonic	ZNF266	.	nonsynonymous SNV	ZNF266:NM_001370390:exon8:c.T230C:p.V77A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.0	B	.	.	1.000	N	-0.445	N	1.52	T	-1.020	T	0.027	T	0.032	0.608	7.277	0.264	-0.091	0.648	2.413	0.028	0.0012994308696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.15554	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.59	0.15444	N	1.62	0.30669	T	.	.	.	0.019	0.00279	-1.0195	0.23877	T	0.027	0.11751	T	9	0.05070132	0.04842	T	0.001299	0.01809	T	.	.	0.269	0.21735	0.0716867268079	0.06686	.	.	0.0302730504601	0.03124	0.188726812601	0.00203	T	0.024839	0.18689	T	-0.391324	0.02638	T	-0.799886	0.01905	T	0.0266237751457078	0.01491	T	0.0231377	0.00135	T	0.034675248	0.03937	0.03587461	0.02922	0.034675248	0.03936	0.03587461	0.02921	-2.896	0.09103	T	.	.	0.097	0.15877	B	.;.;.;.;.	.;.;.;.;.	0.448509	0.08186	4.921	0.39313500465167028	0.02705	0.00045	0.00362	N	AEFBCI	0.016481	0.00373	N	-1.446038419514	0.02248	0.09906374	-1.4627362794439	0.02657	0.1225827	1.07258213325659E-5	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	2.58	0.264	0.14862	-0.757000	0.04877	.	.	-0.088000	0.16191	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5204:0.0:0.2671:0.2125	2.413	0.04159	952	0.10565	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1498.98	39	chr19	9414695	.	A	G	1498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=870;ExcessHet=0.0000;FS=1.774;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.14;ReadPosRankSum=0.414;SOR=0.475	GT:AD:DP:GQ:PL	0/1:46,53:99:99:1513,0,1280	20	0	1	0
chr19	10089677	10089677	G	C	exonic	SHFL	.	nonsynonymous SNV	SHFL:NM_001308277:exon4:c.G216C:p.K72N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.447	B	0.21	B	0.603	N	0.969	N	0.345	N	.	.	-1.020	T	0.048	T	0.129	0.766	8.053	-3.02	-0.358	-0.269	8.877	0.060	0.00835452894133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.23e-05	0.0007	0.0001	8.388e-05	0.0001	7.937e-05	7.411e-05	9.867e-05	9.266e-05	3.012e-05	0	3.881e-05	2.554e-05	0	0	0.0001	5.025e-05	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.096	0.31088	T	0.144	0.92824	T	.	.	.	.	.	.	0.602986	0.10940	N	0.778374	0.969116	0.25769	N	.	.	.	.	.	.	-2.3	0.51157	N	0.451	0.54409	-1.0203	0.23616	T	0.048	0.20355	T	9	0.11713013	0.22113	T	0.008355	0.22105	T	0.060	0.17295	0.149	0.05238	0.257342827899	0.25358	0.7671544330350812	0.76664	1.27764482569	0.82445	.	.	.	.	.	.	-0.228678	0.16824	T	-0.566257	0.15794	T	0.318100303411484	0.25744	T	0.765923	0.40183	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.583	0.81635	P	.;.;.;.;.	.;.;.;.;.	0.889740	0.12634	9.157	0.94812326393072077	0.25574	0.63549	0.32124	D	AEFDBCI	0.495824	0.53103	N	-0.944719638248053	0.09811	0.4660345	-0.912159081172477	0.11806	0.6037553	0.999561478255562	0.40425	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.07	-3.02	0.05116	-0.259000	0.08742	0.264000	0.16579	-0.855000	0.02678	0.979000	0.35152	0.967000	0.29559	0.342000	0.25479	0.5074:0.0:0.4926:0.0	8.877	0.34512	883	0.28872	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	207.46	82	chr19	10089677	.	G	C	207.46	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-3.463e+00;DP=2074;ExcessHet=1.7912;FS=272.777;InbreedingCoeff=-0.1689;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.37;ReadPosRankSum=0.605;SOR=12.318	GT:AD:DP:GQ:PL	0/1:70,24:94:8:8,0,1396	15	0	6	0
chr19	11405406	11405406	G	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.C1017G:p.N339K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.235	H	-0.44	T	0.121	D	0.587	D	0.498	3.271	16.98	0.744	0.212	0.433	8.708	0.423	0.196437592837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.003	0.79402	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999782	0.49076	D	.	.	.	-0.44	0.69777	T	-5.56	0.86296	D	0.955	0.96416	0.121	0.84545	D	0.587	0.85193	D	10	0.9687301	0.96415	D	0.196438	0.86479	D	0.633	0.85924	0.856	0.95547	0.645372302287	0.64243	0.7254216986829906	0.72486	0.56572969357	0.52901	0.781132102013	0.79098	T	0.497296	0.81923	T	0.0551969	0.59008	T	-0.15849	0.58488	T	0.997808158397675	0.92464	D	0.953905	0.82456	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.96466	P	.;.	.;.	3.588069	0.50618	23.0	0.99736088181629057	0.83119	0.90066	0.50957	D	AEFDBI	0.565574	0.57190	D	0.48326814403872	0.66114	4.908338	0.284030260583653	0.54608	3.625159	1.08984404763921E-4	0.05123	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.26	0.744	0.17503	0.403000	0.20706	.	.	0.676000	0.76740	0.998000	0.41325	0.995000	0.32472	0.700000	0.34141	0.3282:0.0:0.6718:0.0	8.708	0.33527	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	209.78	55	chr19	11405406	.	G	C	209.78	.	AC=6;AF=0.200;AN=30;BaseQRankSum=-1.596e+00;DP=1235;ExcessHet=1.7912;FS=66.458;InbreedingCoeff=-0.2677;MLEAC=6;MLEAF=0.200;MQ=59.99;MQRankSum=0.00;QD=0.65;ReadPosRankSum=0.788;SOR=8.235	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,13:76:72:.:.:72,0,1275	9	0	6	6
chr19	13207871	13207876	CTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6963del:p.Q2324_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,29,0,0,0,0,0:29:88:.:.:1306,88,0,1306,88,1306,1306,88,1306,1306,1306,88,1306,1306,1306,1306,88,1306,1306,1306,1306,1306,88,1306,1306,1306,1306,1306	2	3	6	0
chr19	13207874	13207876	CTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6960del:p.Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,29,0,0,0,0,0:29:88:.:.:1306,88,0,1306,88,1306,1306,88,1306,1306,1306,88,1306,1306,1306,1306,88,1306,1306,1306,1306,1306,88,1306,1306,1306,1306,1306	2	3	6	0
chr19	13207876	13207876	-	CTG	exonic	CACNA1A	.	nonframeshift insertion	CACNA1A:NM_001127222:exon47:c.6957_6958insCAG:p.Q2325_A2326insQ,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,29,0,0,0,0,0:29:88:.:.:1306,88,0,1306,88,1306,1306,88,1306,1306,1306,88,1306,1306,1306,1306,88,1306,1306,1306,1306,1306,88,1306,1306,1306,1306,1306	2	3	6	0
chr19	13207868	13207876	CTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6966del:p.Q2323_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,29,0,0,0,0,0:29:88:.:.:1306,88,0,1306,88,1306,1306,88,1306,1306,1306,88,1306,1306,1306,1306,88,1306,1306,1306,1306,1306,88,1306,1306,1306,1306,1306	2	3	6	0
chr19	13207862	13207876	CTGCTGCTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6972del:p.Q2321_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,29,0,0,0,0,0:29:88:.:.:1306,88,0,1306,88,1306,1306,88,1306,1306,1306,88,1306,1306,1306,1306,88,1306,1306,1306,1306,1306,88,1306,1306,1306,1306,1306	2	3	6	0
chr19	13959894	13959894	-	GGTGGGCCCAGGGCAGGCAG	exonic	DCAF15	.	frameshift insertion	DCAF15:NM_138353:exon9:c.1439_1440insGGTGGGCCCAGGGCAGGCAG:p.C482Gfs*59,	.	.	429	927	68	95	3	261	0.122159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0165	0.0004	0	0	3.429e-05	0	0	0.0002305	6	26028	.	0.0004	0.0004	0.0005	0.0003	0.0154	0.0004	0.0004	0.0142	0.0138	0.0154	0.0009	0	0	0	0.0008	1.26e-05	0.0008	9.603e-05	0.0040	0.0039	0.0038	0.0042	0.0139	0.0037	0.0036	0.0129	0.0125	0.0139	0	0.0015	0	0	0	0	1.518e-05	0.0035	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8404.5	34	chr19	13959894	.	A	AGGTGGGCCCAGGGCGGGCAG,AGGTGGGCCCAGGGCAGGCAG	8404.5	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=0.536;DP=1417;ExcessHet=0.3152;FS=5.121;InbreedingCoeff=0.1923;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=-9.810e-01;SOR=1.052	GT:AD:DP:GQ:PL	1/1:0,18,0:18:47:787,47,0,793,54,800	9	4	7	0
chr19	14053615	14053615	G	A	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.C1859T:p.A620V	.	.	418	1099	4	1	0	6	0.00272232	.	.	2397490	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.94	T	0.366	B	0.035	B	.	.	1.000	N	0.55	N	1.6	T	-1.010	T	0.028	T	0.112	0.566	7.060	-1.28	-0.059	-0.204	4.585	0.015	.	0.0004	0.000798722	0.0007	0	0	0	0	0.0007	0.0139	0.0024	0.0001035	16	154602	rs138317110	0.0002	0.0002	0.0002	0.0003	0.0023	0.0002	0.0002	0.0016	0.0015	0.0001	0	0	0	6.557e-05	0.0023	0.0002	0.0004	0.0019	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0008	0.0006	7.217e-05	0	0	0	0	9.416e-05	0	0.0002	0	0.0017	0.419	0.09866	T	0.69	0.05920	T	0.366	0.34016	B	0.035	0.22741	B	.	.	.	.	1	0.08975	N	0.72	0.18721	N	1.6	0.28604	T	-0.67	0.19297	N	0.136	0.13341	-1.0104	0.26791	T	0.028	0.12058	T	9	0.0077739954	0.00177	T	.	.	.	0.015	0.02232	.	.	0.0138822411134	0.00435	0.07233110535439027	0.07170	.	.	0.486860245466	0.37004	T	0.001625	0.01056	T	-0.628497	0.00098	T	-0.681427	0.06897	T	0.0101771386328012	0.00137	T	0.574643	0.20620	T	0.034411117	0.03855	0.04377785	0.05522	0.034411117	0.03855	0.04377785	0.05522	-5.367	0.40601	T	.	.	0.132	0.28406	B	.	.	0.267653	0.06454	2.929	0.95932829284428645	0.28219	0.05187	0.11008	N	AEFDBHCI	0.068732	0.13571	N	-1.28656180766566	0.03836	0.1720926	-1.29728785369666	0.04468	0.2107921	0.0370021665962185	0.14274	0.695654	0.57023	0	0.514364	0.08380	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	4.73	-1.28	0.08834	-0.343000	0.07838	-0.404000	0.09391	-0.811000	0.03066	0.000000	0.06391	0.000000	0.08366	0.877000	0.41881	0.444:0.0:0.407:0.1489	4.585	0.11673	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1599.98	36	chr19	14053615	.	G	A	1599.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.374;DP=793;ExcessHet=0.0000;FS=2.573;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.38;ReadPosRankSum=1.44;SOR=0.772	GT:AD:DP:GQ:PL	0/1:45,59:104:99:1614,0,1090	20	0	1	0
chr19	14718795	14718795	C	T	exonic	ZNF333	.	nonsynonymous SNV	ZNF333:NM_001352243:exon12:c.C775T:p.H259Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.012	B	0.004	B	.	.	1.000	N	0.67	N	3.18	T	-0.971	T	0.014	T	0.164	-0.978	0.294	0.852	0.715	-0.256	3.726	0.046	0.000705293708289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.804	0.04017	T	0.012	0.16265	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.255	0.09829	N	3.18	0.07478	T	-2.06	0.47175	N	0.168	0.17828	-0.9710	0.36988	T	0.014	0.05513	T	9	0.03852266	0.02277	T	7.05E-4	0.00435	T	0.046	0.12618	0.344	0.33788	0.107399877778	0.10242	0.07740261930033064	0.07676	0.188085190649	0.21134	0.716208398342	0.69494	T	0.02268	0.17443	T	-0.288783	0.09757	T	-0.652593	0.08773	T	0.0369741165451726	0.03151	T	0.542646	0.18460	T	0.09028612	0.21122	0.12376942	0.29841	0.09028612	0.21122	0.12376942	0.29840	-3.893	0.22197	T	.	.	0.155	0.34272	B	.	.	1.861129	0.23640	16.10	0.80350099615842707	0.13161	0.00017	0.00201	N	ALL	0.044251	0.07097	N	-0.674046662458058	0.16764	0.8569397	-0.635204927734325	0.18591	0.9938187	0.00922602293551667	0.11818	0.566229	0.32551	0	0.615513	0.52658	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.26	0.852	0.18133	0.560000	0.23204	.	.	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.994000	0.71098	0.3586:0.5094:0.0:0.132	3.726	0.08003	964	0.07719	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1728.98	46	chr19	14718795	.	C	T	1728.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.000e-02;DP=882;ExcessHet=0.0000;FS=8.722;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=-9.070e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/1:80,65:145:99:1743,0,2147	20	0	1	0
chr19	15187216	15187216	T	C	exonic	NOTCH3	.	nonsynonymous SNV	NOTCH3:NM_000435:exon11:c.A1729G:p.T577A,	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, Autosomal dominant;Lateral meningocele syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	442135	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.96	T	0.0	B	0.008	B	.	.	0.946	N	0.53	N	-2.84	D	-0.644	T	0.442	T	0.604	1.623	11.38	3.4	1.798	1.172	7.387	0.481	0.0373999574789	7.7e-05	.	1.669e-05	0	8.718e-05	0	0	0	0.0011	0	1.29e-05	2	154602	rs368181126	2.6e-05	2.599e-05	1.77e-05	3.438e-05	0.0010	1.933e-05	1.692e-05	0.0005	0.0003	0.0002	6.709e-05	0	0	0	0.0010	6.295e-06	0.0002	3.478e-05	3.285e-05	3.283e-05	2.569e-05	4.034e-05	4.409e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.409e-05	0.0005	0	0.528	0.07071	T	0.673	0.06245	T	0.0	0.02946	B	0.004	0.10090	B	.	.	.	.	0.946204	0.26638	N	1.17	0.29769	L	-2.84	0.91305	D	-0.5	0.15782	N	0.773	0.77039	-0.6441	0.62970	T	0.442	0.77983	T	9	0.18203616	0.33464	T	0.037	0.57590	D	0.481	0.77142	.	.	0.939213965693	0.93858	0.3580850142694082	0.35722	0.517390539339	0.49607	0.38988173008	0.23653	T	0.270097	0.64234	T	-0.0401241	0.45930	T	-0.113265	0.62351	T	0.0661561787128448	0.08100	T	0.659534	0.58869	T	0.14611273	0.33462	0.058888823	0.10960	0.12362478	0.29024	0.070227854	0.14895	-2.866	0.08808	T	.	.	0.068	0.02733	B	.;.	.;.	1.943795	0.24691	16.49	0.93160677804312997	0.22813	0.64114	0.32303	D	AEFBHCI	0.442566	0.50024	N	-0.536701087935679	0.20902	1.105365	-0.35961222778618	0.26213	1.446394	0.994220889696712	0.33542	0.675385	0.55134	0	0.547309	0.14657	0	0.693117	0.63056	0	0.567892	0.33627	0	.	.	4.51	3.4	0.38031	0.398000	0.20624	.	.	0.665000	0.62972	0.039000	0.20931	0.025000	0.21018	0.990000	0.65344	0.3736:0.0:0.0:0.6264	7.387	0.26062	940	0.13648	EGF-like domain|EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1832.98	33	chr19	15187216	.	T	C	1832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.169e+00;DP=837;ExcessHet=0.0000;FS=2.145;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=1.45;SOR=0.530	GT:AD:DP:GQ:PL	0/1:61,79:140:99:1847,0,1464	20	0	1	0
chr19	16750330	16750330	C	T	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001347994:exon5:c.C1070T:p.T357M	.	.	435	1050	35	2	0	39	0.0182328	.	.	2811785	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.22	T	0.181	B	0.014	B	0.241	N	1.000	N	-0.6	N	0.53	T	-1.075	T	0.037	T	0.141	-1.414	0.022	2.48	0.901	0.932	4.816	0.029	.	0.0052	0.00319489	0.0069	0.0009	0.0018	0	0.0024	0.0092	0.0059	0.0102	0.0065135	1007	154602	rs141300843	0.0064	0.0064	0.0062	0.0065	0.0188	0.0062	0.0062	0.0159	0.0148	0.0017	0.0028	0.0183	5.038e-05	0.0021	0.0188	0.0066	0.0065	0.0084	0.0044	0.0044	0.0046	0.0043	0.0077	0.0042	0.0040	0.0065	0.0063	0.0008	0	0.0018	0.0153	0	0.0024	0.0170	0.0070	0.0071	0.0077	0.158	0.23905	T	0.526	0.10245	T	0.082	0.24665	B	0.014	0.16862	B	0.241064	0.15710	N	0.640286	1	0.08975	N	-0.485	0.02676	N	0.47	0.56114	T	0.43	0.03297	N	0.066	0.06990	-1.0755	0.08246	T	0.037	0.15770	T	10	0.0032134652	0.00055	T	.	.	.	0.029	0.06676	.	.	0.0611884634855	0.05136	0.23055863881366614	0.22970	0.152614297505	0.17216	0.302149355412	0.10722	T	5.85E-4	0.00238	T	-0.551344	0.00286	T	-0.557921	0.16572	T	0.00625591657394117	0.00069	T	0.715328	0.32778	T	0.018980328	0.00422	0.03925748	0.03978	0.018980328	0.00422	0.03925748	0.03978	-2.588	0.07153	T	.	.	0.074	0.07745	B	.;.;.;.	.;.;.;.	0.796979	0.11677	8.258	0.07088336291344946	0.00035	0.00419	0.02071	N	AEFBI	0.024551	0.01538	N	-0.965319545037062	0.09351	0.4422479	-0.917865094440947	0.11672	0.5961045	2.7198815757485E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.04	2.48	0.29194	2.174000	0.42109	1.637000	0.27771	0.589000	0.31548	0.210000	0.24424	0.011000	0.20116	0.075000	0.16954	0.0:0.4509:0.0:0.549	4.816	0.12731	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	2048.66	41	chr19	16750330	.	C	T	2048.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.531;DP=840;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.49;ReadPosRankSum=-7.100e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/1:28,23:51:99:556,0,671	19	1	1	0
chr19	17286678	17286692	GTGTGTGTGTGTGTT	0	exonic	ANKLE1	.	.	.	.	.	559	741	214	4	4	226	0.130282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4004.43	34	chr19	17286678	.	GTGTGTGTGTGTGTT	*,G	4004.43	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=0.870;DP=1077;ExcessHet=0.9430;FS=6.169;InbreedingCoeff=-0.0269;MLEAC=1,8;MLEAF=0.025,0.200;MQ=59.96;MQRankSum=0.00;QD=11.34;ReadPosRankSum=1.98;SOR=0.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:23,6,16:45:99:.:.:610,358,1475,0,737,874	12	0	0	1
chr19	17286684	17286684	G	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	4780.38	36	chr19	17286684	.	G	T,*	4780.38	.	AC=7,9;AF=0.175,0.225;AN=40;BaseQRankSum=-8.400e-01;DP=1119;ExcessHet=4.5793;FS=8.883;InbreedingCoeff=-0.2478;MLEAC=7,9;MLEAF=0.175,0.225;MQ=59.96;MQRankSum=0.00;QD=8.55;ReadPosRankSum=0.894;SOR=0.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:23,0,22:45:99:.:.:807,916,2069,0,943,834	6	0	6	1
chr19	17286686	17286692	GTGTGTT	0	exonic	ANKLE1	.	.	.	.	.	513	567	132	0	310	442	0.104265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1476.26	36	chr19	17286686	.	GTGTGTT	*,G,TTGTGTT	1476.26	.	AC=9,2,4;AF=0.214,0.048,0.095;AN=42;BaseQRankSum=0.195;DP=1111;ExcessHet=3.1640;FS=2.719;InbreedingCoeff=-0.1486;MLEAC=9,2,4;MLEAF=0.214,0.048,0.095;MQ=60.00;MQRankSum=0.00;QD=2.88;ReadPosRankSum=0.928;SOR=0.500	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,22,0,0:45:99:.:.:807,0,834,916,943,2069,916,943,2069,2069	8	1	7	0
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	4769.66	36	chr19	17286688	.	GTGTT	*,G,TTGTT	4769.66	.	AC=11,10,1;AF=0.262,0.238,0.024;AN=42;BaseQRankSum=0.035;DP=1122;ExcessHet=8.0185;FS=14.083;InbreedingCoeff=-0.3339;MLEAC=11,10,1;MLEAF=0.262,0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=7.34;ReadPosRankSum=0.733;SOR=0.210	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,22,0,0:45:99:.:.:807,0,834,916,943,2069,916,943,2069,2069	3	1	6	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	2703.98	18	chr19	17286690	.	GTT	*,G	2703.98	.	AC=19,8;AF=0.452,0.190;AN=42;BaseQRankSum=-1.400e-01;DP=1116;ExcessHet=3.1640;FS=12.346;InbreedingCoeff=-0.0816;MLEAC=19,7;MLEAF=0.452,0.167;MQ=59.97;MQRankSum=0.00;QD=4.53;ReadPosRankSum=0.510;SOR=0.209	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:11,22,3:36:99:.:.:807,0,750,807,249,1423	2	3	9	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	2556.62	16	chr19	17286692	.	T	*,G	2556.62	.	AC=29,9;AF=0.690,0.214;AN=42;BaseQRankSum=-3.190e-01;DP=1109;ExcessHet=0.6776;FS=2.075;InbreedingCoeff=-0.1052;MLEAC=29,9;MLEAF=0.690,0.214;MQ=59.98;MQRankSum=0.00;QD=3.57;ReadPosRankSum=1.19;SOR=0.451	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,25,7:32:99:.:.:2260,339,173,1187,0,1126	0	10	3	0
chr19	17540511	17540511	C	A	exonic	NIBAN3	.	nonsynonymous SNV	NIBAN3:NM_001321828:exon8:c.C370A:p.L124M	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.021	N	1.000	N	2.25	M	1.87	T	-0.488	T	0.504	D	0.259	3.356	17.31	-0.269	0.083	0.811	3.087	0.109	0.0615950223037	.	0.00159744	0.0011	0	0	0	0	0	0.0016	0.0075	0.000718	111	154602	rs548734371	0.0003	0.0003	0.0002	0.0005	0.0055	0.0003	0.0003	0.0051	0.0049	0	0	0	2.625e-05	0	0.0004	2.717e-06	0.0004	0.0055	0.0002	0.0002	8.991e-05	0.0002	0.0048	0.0001	8.709e-05	0.0033	0.0028	0	0	0	0	0	0	0	0	0	0.0048	0.064	0.43708	T	0.027	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.021477	0.26827	N	0.175055	1	0.08975	N	2.595	0.75868	M	1.87	0.77466	T	-0.63	0.18459	N	0.276	0.38335	-0.4881	0.69076	T	0.504	0.81320	D	10	0.008756995	0.00198	T	0.061595	0.68382	D	0.109	0.30843	0.428	0.47515	0.455357065977	0.45159	0.42836933077151695	0.42753	0.864492229153	0.69148	0.510096669197	0.40235	T	0.007324	0.19316	T	-0.368757	0.03657	T	-0.30069	0.44653	T	0.117537649127366	0.14187	T	0.79972	0.44511	T	0.0794879	0.18161	0.054658826	0.09443	0.0794879	0.18160	0.054658826	0.09443	-6.086	0.47248	T	.	.	0.224	0.48867	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.395861	0.30777	18.54	0.99192060329917864	0.55024	0.09570	0.15296	N	AEFBI	0.104679	0.20938	N	-0.118576959625587	0.36584	2.116626	-0.371577830243053	0.25848	1.42404	0.00243653181004195	0.09427	0.634777	0.41761	0	0.643519	0.57511	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.45	-0.269	0.12291	0.496000	0.22207	1.363000	0.25896	0.463000	0.21641	0.002000	0.15269	0.787000	0.26830	0.062000	0.16114	0.1914:0.4894:0.0:0.3192	3.087	0.05901	946	0.12043	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	799.98	43	chr19	17540511	.	C	A	799.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.646e+00;DP=764;ExcessHet=0.0000;FS=2.120;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.33;ReadPosRankSum=-3.490e-01;SOR=0.577	GT:AD:DP:GQ:PL	0/1:27,33:60:99:814,0,707	20	0	1	0
chr19	20624371	20624371	G	0	exonic	ZNF626	.	.	.	.	.	798	89	186	378	71	1013	0.841071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8929	18756.49	70	chr19	20624371	.	G	GA,*	18756.49	.	AC=11,14;AF=0.393,0.500;AN=28;BaseQRankSum=0.690;DP=1784;ExcessHet=0.5115;FS=0.701;InbreedingCoeff=0.3000;MLEAC=15,19;MLEAF=0.536,0.679;MQ=58.42;MQRankSum=-3.529e+00;QD=16.03;ReadPosRankSum=1.59;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,28,0:83:99:0|1:20624371_G_GA:994,0,2218,1160,2302,3462:20624371	0	4	3	7
chr19	20624379	20624379	C	0	exonic	ZNF626	.	.	.	.	.	805	84	185	376	72	1009	0.847964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8929	18081.55	70	chr19	20624379	.	C	T,*	18081.55	.	AC=11,14;AF=0.393,0.500;AN=28;BaseQRankSum=-4.660e-01;DP=1782;ExcessHet=0.5115;FS=0.686;InbreedingCoeff=0.3000;MLEAC=15,19;MLEAF=0.536,0.679;MQ=58.41;MQRankSum=-3.245e+00;QD=15.23;ReadPosRankSum=-4.350e-01;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,33,0:88:99:0|1:20624371_G_GA:938,0,2216,1104,2303,3407:20624371	0	4	3	7
chr19	21383393	21383393	G	0	exonic	ZNF738	.	.	.	.	.	617	630	79	26	170	301	0.0941769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	2164.49	46	chr19	21383393	.	G	T,*	2164.49	.	AC=3,3;AF=0.071,0.071;AN=42;BaseQRankSum=0.252;DP=1021;ExcessHet=0.1217;FS=4.260;InbreedingCoeff=0.2222;MLEAC=3,3;MLEAF=0.071,0.071;MQ=59.82;MQRankSum=0.00;QD=6.66;ReadPosRankSum=0.637;SOR=0.514	GT:AD:DP:GQ:PL	0/1:30,36,0:66:99:1058,0,875,1148,983,2131	16	0	2	0
chr19	23145949	23145949	-	T	exonic	ZNF730	.	stopgain	ZNF730:NM_001277403:exon4:c.906dupT:p.K303*,	.	.	428	1090	4	0	0	4	0.0018315	.	.	2811927	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	0.0039	0.0001	0.0018	0	0.0006	0.0045	0	0.0084	0.0004226	11	26028	rs529180941	0.0037	0.0037	0.0034	0.0039	0.0078	0.0036	0.0036	0.0073	0.0071	0.0005	0.0023	0.0043	0	0.0004	0.0058	0.0037	0.0038	0.0078	0.0029	0.0029	0.0030	0.0028	0.0085	0.0026	0.0026	0.0064	0.0057	0.0005	0	0.0033	0.0055	0	0	0	0.0044	0.0024	0.0085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1824.94	33	chr19	23145949	.	A	AT	1824.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.537;DP=863;ExcessHet=0.0000;FS=3.379;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.60;ReadPosRankSum=1.51;SOR=1.035	GT:AD:DP:GQ:PL	0/1:58,59:117:99:1839,0,1815	20	0	1	0
chr19	23362723	23362723	T	C	exonic	ZNF91	.	nonsynonymous SNV	ZNF91:NM_001300951:exon3:c.A160G:p.I54V	.	.	711	809	2	0	0	2	0.00123457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.067	B	0.088	B	.	.	1.000	D	0.135	N	5.71	T	-0.896	T	0.007	T	0.062	-0.649	1.142	0.131	0.148	-2.275	.	0.003	0.00255579281556	0.0019	0.00159744	0.0030	0.0005	0.0031	0	0.0003	0.0042	0.0027	0.0021	0.0024838	384	154602	rs139015019	0.0023	0.0022	0.0023	0.0023	0.0055	0.0022	0.0022	0.0039	0.0034	0.0002	0.0029	0.0086	0	0.0006	0.0055	0.0023	0.0028	0.0014	0.0024	0.0024	0.0025	0.0023	0.0057	0.0022	0.0021	0.0047	0.0043	0.0004	0	0.0057	0.0069	0	0.0005	0.0342	0.0031	0.0019	0.0017	0.638	0.24277	T	0.578	0.23776	T	0.067	0.23653	B	0.011	0.29688	B	.	.	.	.	0.999999	0.58761	D	0.075	0.08292	N	3.47	0.05188	T	-0.14	0.18248	N	0.038	0.02559	-0.8956	0.48427	T	0.007	0.02518	T	8	0.0066034496	0.00150	T	0.002556	0.05121	T	0.003	0.00094	.	.	0.191931220699	0.18833	0.0029191563434631503	0.00271	0.165805969666	0.18709	0.406939864159	0.26033	T	0.001538	0.00977	T	-0.709752	0.00032	T	-0.793442	0.02071	T	0.00265291932436546	0.00028	T	0.0341966	0.00226	T	0.0320724	0.03165	0.04305648	0.05269	0.0320724	0.03164	0.04305648	0.05269	-1.584	0.50186	T	.	.	0.086	0.25000	B	.;.	.;.	-1.024714	0.00737	0.022	0.39929457389530015	0.02786	0.00522	0.02430	N	AEFBI	0.037023	0.05026	N	-1.26191821170363	0.04145	0.186499	-1.34647719909594	0.03847	0.1803098	2.50119927520373E-4	0.06141	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	0.131	0.131	0.14055	-2.957000	0.00740	.	.	-1.993000	0.00453	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1504.11	38	chr19	23362723	.	T	C	1504.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.387;DP=967;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=-6.330e-01;SOR=0.656	GT:AD:DP:GQ:PL	0/1:32,24:56:99:556,0,867	19	0	2	0
chr19	33002294	33002294	G	A	exonic	RHPN2	.	nonsynonymous SNV	RHPN2:NM_033103:exon9:c.C1058T:p.A353V,	.	.	416	930	175	1	0	177	0.0868925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.025	B	0.013	B	0.862	N	1.000	N	1.24	L	2.19	T	-0.976	T	0.036	T	0.184	1.276	10.17	-4.16	-0.540	0.178	7.862	0.017	.	.	.	0.0489	0.0732	0.0274	0.0295	0.0985	0.0533	0.0501	0.0231	0.0401418	6206	154602	rs200623446	3.369e-05	0.0015	3.557e-05	3.179e-05	4.663e-05	2.579e-05	2.323e-05	2.211e-05	1.95e-05	3.011e-05	2.254e-05	0	0	0.0002	0	3.071e-05	1.667e-05	4.663e-05	2.629e-05	8.537e-05	2.57e-05	2.691e-05	6.554e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.413e-05	0	6.554e-05	0	0	0	0	2.94e-05	0	0	0.273	0.15876	T	0.175	0.29945	T	0.025	0.19245	B	0.013	0.16460	B	0.861852	0.07121	N	1.055030	1	0.08975	N	1.73	0.44655	L	2.19	0.18724	T	-1.05	0.27463	N	0.056	0.02759	-0.9761	0.35882	T	0.036	0.15422	T	10	0.00880897	0.00200	T	.	.	.	0.017	0.02790	.	.	.	.	0.13735326170944864	0.13659	0.336863465713	0.35684	0.241706997156	0.02946	T	0.067409	0.33193	T	-0.272824	0.11445	T	-0.629669	0.10439	T	0.0116026718024506	0.00176	T	0.557644	0.19406	T	0.036978584	0.04653	0.042462207	0.05062	0.036978584	0.04653	0.042462207	0.05062	-6.372	0.49291	T	.	.	0.097	0.15832	B	.	.	1.139680	0.15271	11.72	0.9756621197538099	0.34653	0.08051	0.14026	N	AEFDBCI	0.100258	0.20164	N	-1.06808318180184	0.07238	0.3356037	-1.15057558226427	0.06758	0.3263656	0.81424142806194	0.24410	0.651	0.46895	0	0.708844	0.79440	0	0.779548	0.98927	0	0.655142	0.61905	0	.	.	4.61	-4.16	0.03606	0.212000	0.17289	-0.081000	0.12176	-2.006000	0.00445	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.2524:0.4684:0.2792	7.862	0.28680	845	0.36510	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	44.98	35	chr19	33002294	.	G	A	44.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.946e+00;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.75;MQRankSum=-8.276e+00;QD=0.64;ReadPosRankSum=2.59;SOR=0.579	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,6:70:59:0|1:33002294_G_A:59,0,2659:33002294	20	0	1	0
chr19	33002295	33002295	C	T	exonic	RHPN2	.	nonsynonymous SNV	RHPN2:NM_033103:exon9:c.G1057A:p.A353T,	.	.	416	929	176	1	0	178	0.0874263	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.006	B	0.004	B	0.862	N	1.000	N	0.145	N	2.26	T	-0.951	T	0.018	T	0.092	0.483	6.623	-0.585	0.142	-0.172	3.922	0.011	.	.	.	0.0485	0.0726	0.0272	0.0293	0.0971	0.0529	0.0498	0.0230	0.0401483	6207	154602	rs201601538	0.0001	0.0016	0.0001	0.0001	0.0001	9.515e-05	8.994e-05	0.0001	0.0001	9.032e-05	0	0	2.528e-05	0.0001	0	0.0001	3.332e-05	2.331e-05	4.602e-05	0.0001	3.855e-05	5.385e-05	8.822e-05	2.11e-05	1.528e-05	3.763e-05	2.575e-05	2.413e-05	0	0	0	0	0	0	8.822e-05	0	0	0.556	0.06461	T	0.374	0.16280	T	0.006	0.13644	B	0.004	0.10090	B	0.861852	0.07121	N	1.055030	1	0.08975	N	-0.06	0.04898	N	2.26	0.17596	T	-0.07	0.08033	N	0.076	0.05037	-0.9512	0.40765	T	0.018	0.07659	T	10	0.009848177	0.00221	T	.	.	.	0.011	0.01250	.	.	.	.	0.09356277676164375	0.09288	0.321356088751	0.34332	0.246419250965	0.03400	T	0.014515	0.12343	T	-0.357698	0.04261	T	-0.751585	0.03424	T	0.0017221306857785	0.00018	T	0.243476	0.03544	T	0.053259224	0.10051	0.05192128	0.08454	0.053259224	0.10051	0.05192128	0.08453	-4.448	0.30203	T	.	.	0.068	0.02797	B	.	.	0.822276	0.11937	8.497	0.94532874845818482	0.25032	0.04587	0.10238	N	AEFDBCI	0.042490	0.06599	N	-1.29400420323804	0.03747	0.1679299	-1.27243951763102	0.04807	0.2276284	0.399316593982747	0.20117	0.631981	0.41245	0	0.653731	0.59785	0	0.779548	0.98927	0	0.655142	0.61905	0	.	.	4.61	-0.585	0.11112	-0.143000	0.10278	-0.504000	0.08785	-0.844000	0.02770	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.1643:0.3914:0.0:0.4443	3.922	0.08747	845	0.36510	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	44.98	35	chr19	33002295	.	C	T	44.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.035e+00;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.75;MQRankSum=-8.276e+00;QD=0.64;ReadPosRankSum=2.72;SOR=0.579	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,6:70:59:0|1:33002294_G_A:59,0,2659:33002294	20	0	1	0
chr19	34396616	34396616	G	A	exonic	GPI	.	nonsynonymous SNV	GPI:NM_001289790:exon13:c.G1144A:p.V382I	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.633	P	0.338	B	0.000	D	1.000	D	0.96	L	-3.33	D	0.491	D	0.717	D	0.213	4.699	26.0	5.61	2.647	9.854	19.622	0.445	0.106563349838	.	0.000399361	0.0003	0	8.699e-05	0	0.0002	0	0.0011	0.0018	0.0002329	36	154602	rs546774763	0.0001	0.0001	4.764e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	0	0	0	0	5.616e-05	0	7.194e-06	8.279e-05	0.0022	7.88e-05	7.875e-05	2.57e-05	0.0001	0.0021	4.494e-05	3.51e-05	0.0011	0.0009	0	0	0	0	0	9.42e-05	0	1.47e-05	0	0.0021	0.087	0.32453	T	0.281	0.21612	T	0.008	0.14655	B	0.024	0.20255	B	0.000000	0.84330	D	0.053082	1	0.81001	D	1.02	0.25474	L	-3.33	0.93928	D	-0.63	0.18459	N	0.423	0.46274	0.491	0.90422	D	0.717	0.90279	D	10	0.03589052	0.01860	T	0.106563	0.78223	D	0.445	0.74727	0.429	0.47680	0.888217798927	0.88711	0.5049246871764925	0.50414	0.397204867284	0.40817	0.536404967308	0.43938	T	0.674772	0.90386	D	-0.221059	0.17849	T	-0.109327	0.62665	T	0.1435559677927	0.16577	T	0.982402	0.94055	D	0.25581336	0.48617	0.2322554	0.48381	0.27587935	0.50651	0.30942988	0.56957	-7.658	0.58715	D	0.12177937602975974	0.11594	0.093	0.13969	B	.;.;.;.	.;.;.;.	3.870157	0.56179	23.7	0.99790408819588905	0.87661	0.99611	0.97971	D	AEFDBI	0.934077	0.92692	D	0.248390700314389	0.53558	3.524272	0.431003576607389	0.63505	4.585672	0.999999999929585	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	9.987000	0.99199	9.956000	0.82762	0.657000	0.54293	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.622	0.95655	924	0.18029	Phosphoglucose isomerase, SIS domain 2;.;Phosphoglucose isomerase, SIS domain 2;Phosphoglucose isomerase, SIS domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1354.98	36	chr19	34396616	.	G	A	1354.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=-5.200e-01;SOR=0.726	GT:AD:DP:GQ:PL	0/1:68,59:127:99:1369,0,1516	20	0	1	0
chr19	34760091	34760091	C	T	exonic	ZNF599	.	nonsynonymous SNV	ZNF599:NM_001007248:exon4:c.G710A:p.R237H,	.	.	406	1115	1	0	0	1	0.000448229	.	.	2808505	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.007	B	0.004	B	.	.	1.000	N	1.66	L	1.58	T	-1.001	T	0.058	T	0.196	-0.491	1.744	0.022	0.077	-3.005	2.945	0.012	0.00279576541283	0.0021	0.000798722	0.0020	0.0003	0.0013	0	0.0026	0.0028	0.0033	0.0010	0.0019599	303	154602	rs149040820	0.0021	0.0021	0.0021	0.0021	0.0024	0.0021	0.0020	0.0023	0.0023	0.0003	0.0013	0.0009	0.0001	0.0036	0.0012	0.0024	0.0014	0.0006	0.0023	0.0023	0.0024	0.0022	0.0032	0.0021	0.0020	0.0029	0.0027	0.0002	0.0746	0.0012	0.0006	0.0002	0.0028	0	0.0032	0.0005	0.0010	0.196	0.20683	T	0.075	0.42794	T	0.007	0.14184	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.695	0.43389	L	1.58	0.29085	T	-1.24	0.31375	N	0.041	0.01421	-1.0006	0.29746	T	0.058	0.24317	T	9	0.0029852688	0.00049	T	0.002796	0.05810	T	0.012	0.01476	.	.	0.173771789658	0.16945	0.0576256648896432	0.05703	0.0384345900939	0.04090	0.345471978188	0.17253	T	0.00676	0.06189	T	-0.594298	0.00158	T	-0.62411	0.10866	T	0.00739983902753562	0.00085	T	0.0548945	0.00396	T	0.062342223	0.13010	0.054900922	0.09529	0.062342223	0.13010	0.054900922	0.09529	-4.727	0.33730	T	.	.	0.309	0.53663	B	.	.	1.108561	0.14936	11.45	0.93666704466378747	0.23560	0.00006	0.00120	N	AEFBHCI	0.025861	0.01843	N	-1.02943828701703	0.07997	0.3734369	-1.13716503351961	0.07000	0.3389341	4.07930318717342E-4	0.06860	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	2.26	0.022	0.13450	-2.089000	0.01445	-7.385000	0.01168	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.882000	0.42233	0.0:0.4517:0.2406:0.3077	2.945	0.05483	332	0.86382	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2225.98	39	chr19	34760091	.	C	T	2225.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.837e+00;DP=899;ExcessHet=0.0000;FS=4.484;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=0.170;SOR=0.437	GT:AD:DP:GQ:PL	0/1:83,89:172:99:2240,0,2216	20	0	1	0
chr19	35021541	35021541	C	G	exonic	GRAMD1A	.	nonsynonymous SNV	GRAMD1A:NM_001136199:exon13:c.C1494G:p.S498R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.901	P	0.000	D	0.999	D	1.61	L	1.8	T	-1.029	T	0.104	T	0.686	2.432	14.09	3.26	2.255	0.047	10.418	0.239	0.0163827734438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	0.995	0.67487	D	0.763	0.63994	P	0.000000	0.84330	D	0.000000	0.99737	0.45372	D	.	.	.	1.8	0.25344	T	-2.74	0.58248	D	0.776	0.77789	-1.0286	0.20908	T	0.104	0.38218	T	10	0.5404353	0.63688	D	0.016383	0.37609	T	0.239	0.54358	0.392	0.41606	0.043077524339	0.03247	0.688902099595261	0.68830	0.745302754935	0.63487	0.670979619026	0.62977	T	0.100694	0.61579	T	0.0129505	0.53427	T	-0.219174	0.52816	T	0.970659017562866	0.69028	D	0.889511	0.79487	D	0.6618723	0.75999	0.5739654	0.75322	0.6618723	0.76000	0.5739654	0.75323	-12.394	0.86717	D	.	.	0.967	0.88969	P	.;.;.	.;.;.	3.913118	0.57078	23.8	0.99539824292381929	0.70398	0.63826	0.32211	D	AEFBCI	0.169044	0.29585	N	0.367177882577364	0.59652	4.146445	0.330031269384454	0.57311	3.896445	0.0287296184191407	0.13848	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.33	3.26	0.36471	0.635000	0.24318	2.991000	0.35881	0.549000	0.26987	0.998000	0.41325	1.000000	0.68203	0.996000	0.76049	0.0:0.8992:0.0:0.1008	10.418	0.43519	889	0.27310	VASt domain|VASt domain;VASt domain|VASt domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1159.98	41	chr19	35021541	.	C	G	1159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.401e+00;DP=819;ExcessHet=0.0000;FS=5.564;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=1.12;SOR=0.641	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1174,0,1112	20	0	1	0
chr19	35511468	35511492	ACCACTGCTGCCGCCACTGCTGCCG	0	exonic	DMKN	.	.	.	.	.	2	141	1	0	82	83	0.00353357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1248.58	34	chr19	35511468	.	ACCACTGCTGCCGCCACTGCTGCCG	A,*	1248.58	.	AC=1,7;AF=0.024,0.167;AN=42;BaseQRankSum=0.761;DP=1237;ExcessHet=3.5521;FS=1.779;InbreedingCoeff=-0.2353;MLEAC=1,7;MLEAF=0.024,0.167;MQ=60.00;MQRankSum=0.00;QD=2.07;ReadPosRankSum=0.054;SOR=0.854	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:50,0,46:96:99:0|1:35511459_ACTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG_A:1802,1952,4037,0,2085,1928:35511459	13	0	1	0
chr19	35524924	35524924	C	T	exonic	SBSN	.	nonsynonymous SNV	SBSN:NM_001166034:exon2:c.G1639A:p.G547S	.	.	.	.	.	.	.	.	.	0.1711	0.318	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.288	B	0.194	B	0.760	N	0.960	N	0.695	N	0.74	T	-0.994	T	0.096	T	0.049	2.434	14.10	2.27	0.730	0.388	6.527	0.038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.25979	T	0.4	0.50226	T	.	.	.	.	.	.	0.760358	0.09628	N	0.826803	0.965365	0.26160	N	1.24	0.30952	L	0.46	0.56281	T	-1.44	0.58896	N	0.186	0.27077	-0.9940	0.31565	T	0.096	0.36159	T	10	0.073553264	0.20585	T	0.019792	0.42241	T	0.038	0.09825	0.242	0.17524	0.33110744837	0.32714	0.1164347023127874	0.11571	0.937130021803	0.72070	0.337835103273	0.16114	T	0.002643	0.02035	T	-0.253766	0.13640	T	-0.602294	0.12620	T	0.404786205253242	0.29122	T	0.263874	0.08817	T	0.04419761	0.07024	0.074388206	0.16269	0.04419761	0.07023	0.074388206	0.16268	-4.266	0.27697	T	.	.	0.080	0.09143	B	.;.;.	.;.;.	2.011149	0.25557	16.80	0.96922800183215319	0.31625	0.47963	0.28100	N	AEFDBI	0.155286	0.28045	N	-0.50433572600407	0.21939	1.167995	-0.422868580793852	0.24328	1.33157	0.275906982126667	0.18939	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	3.32	2.27	0.27501	0.536000	0.22838	-0.145000	0.11477	-0.262000	0.06890	0.965000	0.33920	0.000000	0.08366	0.304000	0.24594	0.0:0.8622:0.0:0.1378	6.527	0.21506	835	0.38313	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	690.98	32	chr19	35524924	.	C	T	690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.36;ReadPosRankSum=-1.102e+00;SOR=0.646	GT:AD:DP:GQ:PL	0/1:23,22:45:99:705,0,714	20	0	1	0
chr19	35739776	35739776	A	G	exonic	IGFLR1	.	nonsynonymous SNV	IGFLR1:NM_024660:exon4:c.T655C:p.S219P,	.	.	419	1084	18	1	0	20	0.00914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.009	B	0.01	B	0.353	N	1.000	N	0.805	L	-3.0	D	-0.613	T	0.426	T	0.137	2.323	13.72	1.65	-0.014	0.029	3.125	0.099	.	0.0015	0.00359425	0.0023	0.0003	0.0015	0	0	0.0027	0.0013	0.0070	0.0024903	385	154602	rs140499475	0.0021	0.0022	0.0020	0.0023	0.0061	0.0021	0.0021	0.0049	0.0047	0.0001	0.0017	0.0168	0	0.0002	0.0061	0.0018	0.0028	0.0053	0.0020	0.0020	0.0019	0.0022	0.0054	0.0019	0.0018	0.0038	0.0032	0.0003	0.0099	0.0014	0.0153	0	0.0002	0.0034	0.0025	0.0076	0.0054	0.254	0.16903	T	0.246	0.23984	T	0.009	0.15093	B	0.01	0.14941	B	0.352819	0.13789	N	0.686711	1	0.08975	N	1.935	0.51832	L	-3.0	0.92158	D	-0.71	0.20145	N	0.148	0.19593	-0.6129	0.64283	T	0.426	0.76982	T	10	0.0039683282	0.00076	T	.	.	.	0.099	0.28413	.	.	0.295974979623	0.29207	0.27758362302310946	0.27671	0.11156610011	0.12596	0.249404877424	0.03705	T	0.023495	0.17926	T	-0.375781	0.03311	T	-0.310641	0.43590	T	0.00325920142782772	0.00034	T	0.351965	0.07883	T	0.1664602	0.36982	0.08084068	0.18322	0.1664602	0.36981	0.08084068	0.18321	-3.316	0.13945	T	.	.	0.087	0.11269	B	.;.	.;.	1.119375	0.15051	11.55	0.97273360374898588	0.33149	0.17081	0.19681	N	AEFDGBHCI	.	.	.	-1.17014427534986	0.05456	0.2487935	-1.17016438969734	0.06413	0.3086329	0.999999800345108	0.74766	0.72623	0.87236	0	0.685571	0.66316	0	0.594344	0.31042	0	0.604282	0.37693	0	.	.	5.08	1.65	0.23015	0.022000	0.13402	1.975000	0.30006	-0.208000	0.08445	0.007000	0.17678	0.945000	0.28875	0.027000	0.12703	0.593:0.0:0.1913:0.2157	3.125	0.06020	698	0.58074	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1886.98	38	chr19	35739776	.	A	G	1886.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.148e+00;DP=914;ExcessHet=0.0000;FS=3.027;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=-4.010e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/1:66,73:139:99:1901,0,1747	20	0	1	0
chr19	36142668	36142668	A	C	exonic	CAPNS1	.	nonsynonymous SNV	CAPNS1:NM_001003962:exon4:c.A260C:p.Y87S	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.072	B	0.009	B	0.017	N	1.000	N	0.69	N	-1.23	T	-0.975	T	0.205	T	0.443	1.310	10.29	2.45	0.904	0.235	4.732	0.172	0.0431829337077	.	0.000199681	0.0002	0	0.0002	0	0	6.005e-05	0.0011	0.0011	0.0001682	26	154602	rs560846443	9.235e-05	9.235e-05	3.539e-05	0.0001	0.0011	7.958e-05	7.431e-05	0.0009	0.0008	2.987e-05	0	0	0	0	0.0005	2.608e-05	0.0001	0.0011	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0001	0.0011	0.0009	0	0.0209	0	0	0	0	0	8.851e-05	0	0.0021	0.047	0.40319	D	0.361	0.36101	T	0.072	0.23997	B	0.009	0.14300	B	0.016851	0.27871	N	0.375981	1	0.08975	N	0.345	0.11182	N	-1.23	0.82715	T	-0.94	0.25118	N	0.286	0.35832	-0.9752	0.36082	T	0.205	0.56348	T	10	0.0034954846	0.00062	T	0.043183	0.60853	D	0.172	0.43662	0.364	0.37036	0.74828111057	0.74600	0.6401655961385799	0.63951	0.714059627268	0.61863	0.58851236105	0.51284	T	0.33591	0.70548	T	-0.27923	0.10749	T	-0.230219	0.51750	T	0.0292915273457766	0.01882	T	0.654634	0.28733	T	0.22491461	0.45143	0.07173479	0.15395	0.22491461	0.45143	0.07173479	0.15394	-2.06	0.03416	T	.	.	0.507	0.67327	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.941666	0.24664	16.48	0.92997013414460405	0.22585	0.11128	0.16426	N	AEFDGBI	0.398571	0.47419	N	-0.665766569584697	0.17003	0.8712479	-0.59031489521766	0.19744	1.060749	0.999925039050499	0.46280	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.73	2.45	0.28953	0.108000	0.15232	.	.	0.756000	0.94297	0.000000	0.06391	0.808000	0.27011	0.940000	0.48062	0.4973:0.1717:0.0:0.331	4.732	0.12346	385	0.83500	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1342.98	37	chr19	36142668	.	A	C	1342.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=810;ExcessHet=0.0000;FS=0.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.523;SOR=0.784	GT:AD:DP:GQ:PL	0/1:56,54:110:99:1357,0,1330	20	0	1	0
chr19	36720655	36720655	T	C	exonic	ZNF567	.	nonsynonymous SNV	ZNF567:NM_001322911:exon5:c.T1838C:p.I613T	.	.	432	1002	84	4	0	92	0.0438931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.037	B	0.014	B	0.002	N	1.000	D	-0.06	N	3.2	T	-1.004	T	0.013	T	0.183	0.998	9.075	4.88	2.185	1.152	11.057	0.116	.	0.0050	0.014377	0.0132	0.0005	0.0045	0.0002	0.0015	0.0067	0.0208	0.0880	0.012917	1997	154602	rs140175549	0.0096	0.0100	0.0077	0.0115	0.0796	0.0095	0.0094	0.0779	0.0772	0.0008	0.0052	0.0101	0.0002	0.0015	0.0211	0.0059	0.0114	0.0796	0.0070	0.0070	0.0062	0.0077	0.0728	0.0066	0.0065	0.0665	0.0641	0.0009	0.0022	0.0060	0.0086	0.0002	0.0009	0.0272	0.0075	0.0100	0.0728	0.025	0.47745	D	0.035	0.52389	D	0.037	0.20876	B	0.014	0.16862	B	0.001837	0.00831	N	3.122940	1	0.81001	D	-0.26	0.03792	N	3.2	0.08283	T	0.06	0.06253	N	0.052	0.02366	-1.0035	0.28903	T	0.013	0.05177	T	10	0.0017394125	0.00022	T	.	.	.	0.116	0.32463	.	.	.	.	0.02467897446445342	0.02418	0.341437195331	0.36074	0.370252728462	0.20868	T	0.012319	0.10847	T	-0.63367	0.00091	T	-0.622987	0.10953	T	0.00912857202348307	0.00115	T	0.367963	0.08605	T	0.09304879	0.21845	0.085792944	0.19833	0.09304879	0.21844	0.085792944	0.19832	-2.883	0.09406	T	.	.	0.052	0.00742	B	.;.;.	.;.;.	0.981068	0.13585	10.11	0.97326509846944032	0.33403	0.00094	0.00618	N	AEFGBHCI	0.087069	0.17654	N	-0.628539992432899	0.18090	0.9364359	-0.538686525464082	0.21106	1.140228	0.999444655585273	0.39736	0.615465	0.37627	0	0.633656	0.55848	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	4.88	4.88	0.63131	0.655000	0.24618	.	.	0.497000	0.22564	0.002000	0.15269	0.000000	0.08366	0.780000	0.36908	0.0:0.0:0.0:1.0	11.057	0.47145	604	0.67577	Zinc finger C2H2-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2149.11	43	chr19	36720655	.	T	C	2149.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.600e-02;DP=898;ExcessHet=0.1072;FS=4.980;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=0.485;SOR=0.401	GT:AD:DP:GQ:PL	0/1:44,53:97:99:1366,0,1090	19	0	2	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.001	B	.	.	1.000	N	0.55	N	-0.28	T	-0.989	T	0.121	T	0.114	1.268	10.14	-4.52	-1.174	-2.695	8.886	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3438	3239.79	87	chr19	37887093	.	A	G	3239.79	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-3.813e+00;DP=2213;ExcessHet=7.7275;FS=216.184;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=2.67;ReadPosRankSum=1.38;SOR=11.319	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,22:109:99:0|1:37887093_A_G:218,0,2950:37887093	5	0	11	5
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.001	B	.	.	1.000	N	0	N	1.1	T	-1.038	T	0.044	T	0.146	0.505	6.738	0.383	0.403	-0.759	2.678	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	6132.23	64	chr19	37887095	.	C	T	6132.23	.	AC=15;AF=0.500;AN=30;BaseQRankSum=-4.055e+00;DP=2145;ExcessHet=17.4423;FS=296.629;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.600;MQ=60.00;MQRankSum=0.00;QD=3.74;ReadPosRankSum=1.29;SOR=12.164	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,22:109:99:0|1:37887093_A_G:218,0,2950:37887093	0	0	15	6
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.213	B	0.033	B	.	.	1.000	N	0	N	1.06	T	-1.038	T	0.045	T	0.239	-0.012	3.951	2.35	0.269	1.921	5.276	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	5559.48	64	chr19	37887096	.	A	G	5559.48	.	AC=15;AF=0.469;AN=32;BaseQRankSum=-3.174e+00;DP=2173;ExcessHet=17.4423;FS=266.005;InbreedingCoeff=-0.7148;MLEAC=18;MLEAF=0.563;MQ=60.00;MQRankSum=0.00;QD=3.41;ReadPosRankSum=1.27;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,37:112:99:.:.:644,0,1691	1	0	15	5
chr19	38889130	38889130	C	T	exonic	SIRT2	.	nonsynonymous SNV	SIRT2:NM_001193286:exon7:c.G347A:p.R116H	.	.	420	1090	12	0	0	12	0.00547445	.	.	716421	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.04	D	0.991	D	0.641	P	0.000	D	1.000	D	2.515	M	2.23	T	-1.063	T	0.063	T	0.469	3.640	18.51	5.01	2.630	3.026	15.409	0.231	.	0.0080	0.00279553	0.0097	0.0019	0.0029	0	0.0073	0.0157	0.0078	0.0015	0.0096506	1492	154602	rs144373891	0.0093	0.0093	0.0094	0.0091	0.0165	0.0091	0.0091	0.0138	0.0128	0.0018	0.0042	0.0245	2.519e-05	0.0072	0.0165	0.0104	0.0087	0.0014	0.0076	0.0076	0.0080	0.0073	0.0114	0.0073	0.0071	0.0108	0.0105	0.0019	0.0011	0.0065	0.0288	0.0004	0.0073	0.0170	0.0114	0.0080	0.0006	0.036	0.44358	D	0.045	0.49390	D	0.981	0.64070	D	0.641	0.52117	P	0.000325	0.45700	D	0.186557	0.999967	0.52935	D	1.855	0.49169	L	2.23	0.18083	T	-3.78	0.75297	D	0.569	0.59563	-1.0627	0.11093	T	0.063	0.26244	T	10	0.009638488	0.00217	T	.	.	.	0.231	0.53208	.	.	0.454331543959	0.45056	0.7854906067360795	0.78500	0.906898043422	0.70876	0.504186451435	0.39411	T	0.401276	0.75862	T	-0.439825	0.01296	T	-0.39223	0.34291	T	0.0353887764454328	0.02875	T	.	.	.	0.749164	0.80820	0.48666897	0.70291	0.749164	0.80821	0.48666897	0.70292	-12.161	0.86155	D	.	.	0.203	0.45111	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.454469	0.91089	32	0.9991829050291885	0.98586	0.84346	0.43428	D	AEFDBI	0.340196	0.43709	N	0.458498583691265	0.64688	4.728902	0.471408624646011	0.66103	4.908672	0.999802284566782	0.43304	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	3.699000	0.54511	7.540000	0.60069	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:1.0:0.0:0.0	15.409	0.74622	636	0.64483	Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1902.98	33	chr19	38889130	.	C	T	1902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.326;DP=848;ExcessHet=0.0000;FS=2.922;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=-2.518e+00;SOR=0.766	GT:AD:DP:GQ:PL	0/1:70,78:148:99:1917,0,1603	20	0	1	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	778.0	37	chr19	40667990	.	CTGT	*,C	778.0	.	AC=25,1;AF=0.595,0.024;AN=42;DP=1037;ExcessHet=0.3152;FS=2.665;InbreedingCoeff=0.2195;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;QD=0.91;SOR=0.513	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,18,0:43:99:0|1:40667975_C_T:673,0,966,748,1020,1768:40667975	4	8	8	0
chr19	42095399	42095399	C	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.G1018C:p.V340L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.989	D	0.000	D	1.000	D	3.53	H	-4.0	D	1.095	D	0.951	D	0.859	4.691	26.0	3.99	2.214	7.600	15.399	0.939	0.359661340362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.998	0.77913	D	0.989	0.78396	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.015	0.86134	M	-4.0	0.96339	D	-3.0	0.62343	D	0.826	0.82862	1.095	0.99469	D	0.951	0.98412	D	10	0.89701736	0.89057	D	0.359661	0.92479	D	0.939	0.98672	0.557	0.67547	0.949703262491	0.94917	0.9550304941655845	0.95488	2.60485491865	0.98196	0.885964512825	0.94748	D	0.792883	0.99163	D	0.495984	0.94173	D	0.47467	0.94096	D	0.993351914106228	0.84121	D	0.988801	0.96255	D	0.74310046	0.80470	0.69191414	0.81869	0.74310046	0.80471	0.69191414	0.81870	-12.988	0.89314	D	.	.	1.000	0.99395	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.327483	0.89412	30	0.99782441860528814	0.86867	0.97748	0.76847	D	AEFBI	0.946708	0.95645	D	0.844617874197824	0.88800	9.71644	0.738513627196856	0.85298	8.538503	0.999999999650972	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	7.854000	0.85267	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.399	0.74539	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.225	1076.49	79	chr19	42095399	.	C	G	1076.49	.	AC=9;AF=0.225;AN=40;BaseQRankSum=-3.789e+00;DP=1906;ExcessHet=4.7172;FS=144.686;InbreedingCoeff=-0.3152;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=1.33;ReadPosRankSum=0.594;SOR=10.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:73,25:102:84:.:.:84,0,1395	11	0	9	1
chr19	44156264	44156264	A	G	exonic	ZNF234	.	nonsynonymous SNV	ZNF234:NM_001144824:exon6:c.A248G:p.Q83R	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.993	D	0.968	D	.	.	1.000	N	0.39	N	3.44	T	-1.016	T	0.019	T	0.318	3.199	16.71	-1.31	-0.463	-0.477	4.89	0.078	0.00275052414931	8e-05	.	0.0002	0	0.0002	0	0.0002	0.0002	0	0.0004	0.000194	30	154602	rs200302391	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0005	0.0004	6.453e-05	0.0001	0	2.535e-05	7.849e-05	0	0.0003	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	2.405e-05	0	0	0	0	0	0	0.0003	0	0.0014	0.312	0.13925	T	0.586	0.08332	T	0.993	0.65571	D	0.968	0.71741	D	.	.	.	.	1	0.08975	N	2.265	0.64440	M	3.44	0.05375	T	-1.63	0.39119	N	0.123	0.11483	-1.0158	0.25078	T	0.019	0.07846	T	9	0.064894944	0.08675	T	0.002751	0.05694	T	0.078	0.22779	.	.	0.402471007487	0.39861	0.019531885081378413	0.01907	0.109034511512	0.12296	0.214012622833	0.00993	T	0.004634	0.04039	T	-0.506659	0.00524	T	-0.597964	0.12982	T	0.0380275457280497	0.03336	T	0.147585	0.01223	T	0.026663667	0.01752	0.082304746	0.18774	0.026663667	0.01752	0.082304746	0.18773	-4.964	0.36447	T	.	.	0.069	0.03162	B	.;.	.;.	1.797144	0.22847	15.78	0.98275628090387646	0.39805	0.05052	0.10841	N	AEFDBCI	0.058916	0.11088	N	-0.746293008128647	0.14733	0.7364827	-0.895779618366162	0.12193	0.6258082	0.0022733904639613	0.09286	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.9	-1.31	0.08749	-0.884000	0.04273	.	.	-0.205000	0.08568	0.000000	0.06391	0.000000	0.08366	0.973000	0.55318	0.3868:0.3264:0.0:0.2868	4.89	0.13079	835	0.38313	Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1827.11	92	chr19	44156264	.	A	G	1827.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.210;DP=821;ExcessHet=0.1072;FS=0.608;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=1.59;SOR=0.765	GT:AD:DP:GQ:PL	0/1:38,33:71:99:799,0,968	19	0	2	0
chr19	45408329	45408329	C	T	exonic	POLR1G	.	nonsynonymous SNV	POLR1G:NM_001297590:exon3:c.C367T:p.P123S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.779	P	0.397	B	0.088	N	1.000	N	1.905	M	2.56	T	-1.079	T	0.040	T	0.109	2.473	14.23	3.14	0.606	0.605	8.031	0.039	0.00695633317249	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1158414554	6.866e-07	6.84e-07	0	1.382e-06	1.163e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.0	0.92824	D	0.779	0.44223	P	0.397	0.44399	B	0.087789	0.20515	N	0.509628	0.999999	0.08975	N	2.685	0.78553	M	2.56	0.13673	T	-4.0	0.74051	D	0.161	0.20395	-1.0786	0.07622	T	0.040	0.17149	T	10	0.13890749	0.26415	T	0.006956	0.18402	T	0.039	0.10176	0.479	0.55823	0.367229591828	0.36328	0.37011694610344864	0.36925	0.311470906699	0.33450	0.351215183735	0.18101	T	0.064454	0.32439	T	-0.332459	0.05927	T	-0.614701	0.11606	T	0.49671533703804	0.32510	T	0.614539	0.23442	T	0.15954915	0.35835	0.19961107	0.43851	0.15954915	0.35835	0.19961107	0.43850	-3.643	0.18481	T	.	.	0.126	0.26576	B	.;.	.;.	2.157067	0.27476	17.48	0.99806831098475812	0.89085	0.05742	0.11669	N	AEFBHCI	0.050969	0.08958	N	-0.309872862869335	0.28772	1.589812	-0.414901555232152	0.24559	1.345561	0.99987167134417	0.44625	0.722319	0.85440	0	0.702456	0.74545	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.27	3.14	0.35196	0.646000	0.24486	2.103000	0.30614	0.599000	0.40250	0.002000	0.15269	0.008000	0.19753	0.645000	0.32557	0.0:0.8121:0.0:0.1879	8.031	0.29626	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	994.98	50	chr19	45408329	.	C	T	994.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=954;ExcessHet=0.0000;FS=0.910;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.21;ReadPosRankSum=0.206;SOR=0.812	GT:AD:DP:GQ:PL	0/1:33,37:70:99:1009,0,799	20	0	1	0
chr19	45493238	45493238	C	T	exonic	RTN2	.	nonsynonymous SNV	RTN2:NM_005619:exon5:c.G955A:p.V319I,	Spastic paraplegia 12, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.39	B	0.108	B	0.401	U	1.000	D	0	N	0.92	T	-1.064	T	0.059	T	0.147	2.162	13.19	4.42	2.750	0.925	12.825	0.068	0.00836235558971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.722	0.03903	T	0.331	0.18505	T	0.39	0.34593	B	0.108	0.31289	B	0.401310	0.13121	U	0.563267	1	0.81001	D	0	0.06538	N	0.92	0.45636	T	-0.3	0.11913	N	0.185	0.20129	-1.0642	0.10736	T	0.059	0.24612	T	10	0.09375319	0.16616	T	0.008362	0.22130	T	0.068	0.19811	0.354	0.35408	0.128874641272	0.12493	0.0835939386846894	0.08293	0.379294730171	0.39326	0.595422327518	0.52258	T	0.086138	0.37658	T	-0.133773	0.30888	T	-0.429932	0.29942	T	0.287481348138446	0.24484	T	0.548745	0.18852	T	0.078692965	0.17934	0.09075622	0.21302	0.078692965	0.17934	0.09075622	0.21301	-4.304	0.28232	T	.	.	0.106	0.19720	B	.;.	.;.	2.312867	0.29612	18.18	0.99325181526027984	0.59546	0.15371	0.18879	N	ALL	0.087443	0.17731	N	-0.444458389452728	0.23929	1.288445	-0.380794032752582	0.25570	1.407005	0.999999999970589	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.47417	0.07244	0	0.372554	0.06265	0	.	.	4.42	4.42	0.52775	1.088000	0.30489	2.306000	0.32047	0.547000	0.25779	0.313000	0.25441	0.944000	0.28851	0.687000	0.33748	0.0:1.0:0.0:0.0	12.825	0.57099	797	0.45241	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1818.98	35	chr19	45493238	.	C	T	1818.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.260e-01;DP=898;ExcessHet=0.0000;FS=4.069;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=-6.300e-02;SOR=0.414	GT:AD:DP:GQ:PL	0/1:67,72:139:99:1833,0,1785	20	0	1	0
chr19	48345297	48345297	C	T	exonic	TMEM143	.	nonsynonymous SNV	TMEM143:NM_001303538:exon3:c.G322A:p.D108N	.	.	431	1072	19	0	0	19	0.0087841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.036	B	0.012	B	0.000	D	1.000	D	0.895	L	0.89	T	-1.058	T	0.073	T	0.025	2.060	12.84	4.33	2.135	3.226	15.989	0.140	.	0.0072	0.00379393	0.0081	0.0014	0.0108	0	0.0015	0.0114	0.0059	0.0035	0.0076713	1186	154602	rs34488893	0.0086	0.0086	0.0088	0.0084	0.0098	0.0084	0.0084	0.0096	0.0096	0.0013	0.0096	0.0083	0	0.0027	0.0084	0.0098	0.0086	0.0029	0.0063	0.0063	0.0062	0.0064	0.0101	0.0060	0.0059	0.0088	0.0084	0.0025	0.0121	0.0101	0.0058	0	0.0016	0.0306	0.0092	0.0076	0.0023	0.2	0.23997	T	0.0	0.92824	D	0.009	0.20732	B	0.007	0.16012	B	0.000018	0.62929	D	0.000000	0.647612	0.81001	D	2.095	0.58118	M	0.81	0.49358	T	-1.23	0.31170	N	0.315	0.36148	-1.0577	0.12337	T	0.073	0.29419	T	10	0.004316032	0.00087	T	.	.	.	0.140	0.37593	.	.	0.292062946507	0.28806	0.5104324674942305	0.50965	0.291305071471	0.31533	0.473314523697	0.35136	T	0.040388	0.25509	T	-0.603541	0.00139	T	-0.629334	0.10466	T	0.0141490791173392	0.00277	T	0.752425	0.37456	T	0.14458154	0.33180	0.1222838	0.29499	0.14458154	0.33180	0.1222838	0.29498	-4.601	0.32184	T	.	.	0.111	0.36174	B	.;.;.	.;.;.	3.197432	0.43469	21.7	0.99240108211587252	0.56501	0.85516	0.44656	D	AEFDBI	0.393075	0.47086	N	-0.357937413184623	0.26981	1.47683	-0.241450322178204	0.30068	1.689757	0.978063105480638	0.29883	0.695654	0.57023	0	0.723109	0.82256	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.33	4.33	0.51083	3.270000	0.51303	4.728000	0.44539	0.549000	0.26987	0.990000	0.36992	1.000000	0.68203	0.788000	0.37229	0.0:1.0:0.0:0.0	15.989	0.79977	952	0.10565	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1636.98	36	chr19	48345297	.	C	T	1636.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.112e+00;DP=806;ExcessHet=0.0000;FS=2.495;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=-1.850e-01;SOR=0.479	GT:AD:DP:GQ:PL	0/1:43,72:115:99:1651,0,1012	20	0	1	0
chr19	48874185	48874185	G	A	exonic	PPP1R15A	.	nonsynonymous SNV	PPP1R15A:NM_014330:exon2:c.G952A:p.G318R,	.	.	409	1110	3	0	0	3	0.00134953	.	.	2757916	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.47	T	0.404	B	0.056	B	0.113	N	1.000	N	1.555	L	3.5	T	-0.957	T	0.013	T	0.041	2.166	13.20	1.65	0.394	0.500	6.402	0.045	0.00537499180907	.	.	5.766e-05	0	0	0	0	8.991e-05	0	6.057e-05	4.53e-05	7	154602	rs777970448	3.762e-05	3.762e-05	2.995e-05	4.538e-05	0.0002	2.959e-05	2.655e-05	6.246e-05	4.757e-05	0	0	0	0	0	0.0002	3.687e-05	4.967e-05	0.0001	1.971e-05	1.97e-05	1.285e-05	2.689e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.155	0.24183	T	0.256	0.23298	T	0.404	0.34945	B	0.056	0.26147	B	0.112617	0.19350	N	0.426180	1	0.08975	N	1.415	0.35607	L	3.5	0.05014	T	-2.41	0.52938	N	0.031	0.00770	-0.9572	0.39699	T	0.013	0.05273	T	10	0.071136236	0.10446	T	0.005375	0.13771	T	0.045	0.12272	0.158	0.06178	0.341696514166	0.33777	0.017306899043141703	0.01685	0.496624975885	0.48164	0.284677684307	0.08153	T	0.105345	0.41574	T	-0.486163	0.00682	T	-0.744434	0.03707	T	0.0659264436533819	0.08066	T	0.591241	0.21771	T	0.13162449	0.30675	0.0957446	0.22719	0.13162449	0.30675	0.0957446	0.22719	-4.618	0.32397	T	.	.	0.234	0.46722	B	.	.	1.243368	0.16394	12.51	0.9656511997805054	0.30276	0.11911	0.16940	N	AEFDBCI	0.101300	0.20349	N	-0.740088132719116	0.14904	0.7464589	-0.826156494374399	0.13862	0.7213716	0.99999999002904	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	3.85	1.65	0.23015	0.498000	0.22238	1.366000	0.25918	0.676000	0.76740	0.001000	0.13787	0.002000	0.18203	0.181000	0.21328	0.2238:0.0:0.7762:0.0	6.402	0.20847	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1076.98	58	chr19	48874185	.	G	A	1076.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.450e-01;DP=1235;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-1.216e+00;SOR=0.779	GT:AD:DP:GQ:PL	0/1:37,43:80:99:1091,0,999	20	0	1	0
chr19	49154456	49154456	-	CATCAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATGATG:p.D261_V262insDD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:30,0,0,28:63:99:.:.:946,1160,2562,1160,2562,2562,0,1103,1103,1122	5	4	8	0
chr19	49154456	49154456	-	CAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATG:p.D261_V262insD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:30,0,0,28:63:99:.:.:946,1160,2562,1160,2562,2562,0,1103,1103,1122	5	4	8	0
chr19	49988387	49988387	A	C	exonic	VRK3	.	nonsynonymous SNV	VRK3:NM_001025778:exon11:c.T1052G:p.M351R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.996	D	0.859	P	0.000	D	1.000	D	1.79	L	3.41	T	-1.016	T	0.032	T	0.512	0.919	8.743	4.42	1.030	2.150	9.037	0.086	0.0135872645788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	1.363e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.796	0.03150	T	0.047	0.52060	D	0.996	0.68779	D	0.859	0.61184	P	0.000018	0.62929	D	0.185614	0.979529	0.39571	D	2.035	0.55589	M	3.41	0.65747	T	-1.2	0.30555	N	0.764	0.77883	-1.0160	0.25013	T	0.032	0.13767	T	10	0.18373954	0.33715	T	0.013587	0.33109	T	0.086	0.25016	0.333	0.32005	0.779300291469	0.77726	0.758161355376059	0.75764	0.69934721439	0.61027	0.414813667536	0.27123	T	0.014004	0.13743	T	-0.0157255	0.49460	T	-0.260365	0.48787	T	0.892780840396881	0.54391	D	0.766723	0.39899	T	0.42735803	0.62578	0.22797994	0.47825	0.42735803	0.62579	0.22797994	0.47824	-6.718	0.53873	T	.	.	0.162	0.36355	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.378620	0.67476	25.1	0.93116584340525455	0.22751	0.52009	0.29030	D	AEFBCI	0.291328	0.40248	N	0.137105344457736	0.48200	3.035492	0.179140723104348	0.48706	3.082871	0.143370842029982	0.17314	0.706548	0.73137	0	0.702456	0.74545	0	0.786243	0.99158	0	0.714379	0.83352	0	.	.	5.44	4.42	0.52775	2.855000	0.48032	8.780000	0.78246	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.9104:0.0:0.0896:0.0	9.037	0.35458	675	0.60470	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain;.;Protein kinase domain;Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1771.98	33	chr19	49988387	.	A	C	1771.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.678e+00;DP=841;ExcessHet=0.0000;FS=1.343;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=0.052;SOR=0.865	GT:AD:DP:GQ:PL	0/1:64,77:141:99:1786,0,1579	20	0	1	0
chr19	50007700	50007700	G	A	exonic	VRK3	.	nonsynonymous SNV	VRK3:NM_001025778:exon4:c.C266T:p.T89M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.25	B	0.064	B	0.084	N	0.810	N	1.39	L	1.81	T	-1.051	T	0.043	T	0.208	-0.309	2.529	0.903	0.324	0.857	6.817	0.054	0.00180237566414	.	.	4.942e-05	0	0	0	0	2.997e-05	0.0011	0.0002	3.88e-05	6	154602	rs776497793	2.668e-05	2.668e-05	2.178e-05	3.163e-05	0.0002	1.997e-05	1.754e-05	7.123e-05	5.481e-05	8.961e-05	0	0	2.519e-05	1.872e-05	0.0002	1.799e-05	3.311e-05	0.0001	3.943e-05	3.94e-05	5.139e-05	2.69e-05	0.0001	1.715e-05	1.129e-05	4.739e-05	3.053e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.051	0.42487	T	0.152	0.36901	T	0.081	0.24602	B	0.015	0.21540	B	0.083707	0.20738	N	0.493307	0.809527	0.34621	D	2.19	0.61577	M	1.78	0.33189	T	-1.54	0.40660	N	0.138	0.18920	-1.0508	0.14175	T	0.043	0.18410	T	10	0.0445275	0.03420	T	0.001802	0.03089	T	0.054	0.15330	.	.	0.132336055621	0.12781	0.34287442471847807	0.34200	0.158088591516	0.17855	0.400993257761	0.25207	T	0.003406	0.32653	T	-0.344309	0.05095	T	-0.529698	0.19315	T	0.054361948833213	0.06250	T	0.653935	0.37818	T	0.02404051	0.01198	0.061294284	0.11811	0.02404051	0.01197	0.061294284	0.11810	-5.226	0.39205	T	.	.	0.090	0.25067	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	1.923844	0.24436	16.39	0.79838929624814603	0.12924	0.09010	0.14849	N	AEFBI	0.063384	0.12245	N	-1.10528491343102	0.06549	0.3017489	-1.13375121021561	0.07063	0.3421914	7.08650987070423E-5	0.04366	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.15	0.903	0.18428	0.927000	0.28418	2.234000	0.31556	-0.119000	0.14319	0.093000	0.22645	0.902000	0.27988	0.115000	0.18958	0.2556:0.0:0.7444:0.0	6.817	0.23019	692	0.58729	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2020.98	35	chr19	50007700	.	G	A	2020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.190e-01;DP=903;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=1.53;SOR=0.693	GT:AD:DP:GQ:PL	0/1:92,88:180:99:2035,0,2209	20	0	1	0
chr19	50379024	50379024	C	G	exonic	NR1H2	.	nonsynonymous SNV	NR1H2:NM_001256647:exon6:c.C479G:p.P160R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.998	D	0.927	D	0.008	N	1.000	D	1.845	L	-4.27	D	0.993	D	0.920	D	0.588	3.336	17.23	4.28	2.386	4.397	15.991	0.634	0.175011833202	.	0.000199681	8.605e-06	0	0	0	0	0	0	6.803e-05	1.29e-05	2	154602	rs540260398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.565e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.02	0.49613	D	0.07	0.43721	T	0.404	0.34945	B	0.318	0.41660	B	0.007925	0.31115	N	0.214109	0.972933	0.81001	D	1.955	0.52871	M	-4.27	0.97101	D	-2.49	0.55181	N	0.579	0.60071	0.993	0.97069	D	0.920	0.97341	D	10	0.4064611	0.55927	T	0.175012	0.85123	D	0.634	0.85975	0.286	0.24440	0.821073533782	0.81938	.	.	1.9200269807	0.92987	0.69784450531	0.66833	T	0.478437	0.80825	T	0.156396	0.69865	D	0.0875061	0.76078	D	0.797450482845306	0.46180	D	0.889211	0.62120	D	0.39284876	0.60233	0.237486	0.49048	0.39284876	0.60234	0.237486	0.49047	-7.381	0.56771	T	.	.	0.491	0.64169	A	.;.;.	.;.;.	4.314471	0.65983	24.9	0.99773371012099155	0.86088	0.90979	0.52625	D	AEFDBCI	0.763759	0.70076	D	0.403090889691129	0.61593	4.362424	0.419622027975638	0.62788	4.500302	0.999999243019491	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.28	4.28	0.50183	4.519000	0.60234	5.910000	0.51009	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.991	0.79996	586	0.69252	.;Nuclear hormone receptor, ligand-binding domain;Nuclear hormone receptor, ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1869.98	37	chr19	50379024	.	C	G	1869.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.438e+00;DP=960;ExcessHet=0.0000;FS=2.830;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=-1.717e+00;SOR=0.941	GT:AD:DP:GQ:PL	0/1:75,83:158:99:1884,0,1822	20	0	1	0
chr19	50667305	50667305	G	C	exonic	SHANK1	.	nonsynonymous SNV	SHANK1:NM_016148:exon23:c.C4655G:p.P1552R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	U	1.000	D	1.59	L	2.32	T	-1.077	T	0.082	T	0.24	0.783	8.129	2.01	1.141	7.763	11.039	0.246	0.408224902334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	0.000156	0.49130	U	0.081602	0.99994	0.81001	D	1.895	0.50365	L	2.32	0.16640	T	-3.81	0.72471	D	0.332	0.41162	-1.0772	0.07901	T	0.082	0.32295	T	10	0.3563404	0.52375	T	0.408225	0.93542	D	0.246	0.55340	0.152	0.05544	0.513554409148	0.50995	0.170767754175357	0.16996	0.715091012686	0.61917	0.902657151222	0.96729	D	0.512167	0.82775	D	-0.136282	0.30483	T	-0.433536	0.29534	T	0.946616768836975	0.62507	D	0.942806	0.78426	D	0.37657437	0.59068	0.3473858	0.60393	0.37657437	0.59068	0.3473858	0.60393	-9.429	0.71307	D	.	.	0.915	0.87601	P	.;.;.;.	.;.;.;.	3.861511	0.56000	23.7	0.93485414013710089	0.23284	0.97772	0.77022	D	AEFDBI	0.710995	0.66457	D	0.369389969068151	0.59772	4.159322	0.248784584858441	0.52582	3.431962	0.999821343101279	0.43622	0.764865	0.99124	0	0.547309	0.14657	0	0.731555	0.93304	0	0.620976	0.48614	0	.	.	2.01	2.01	0.25568	8.321000	0.89912	7.412000	0.58651	0.450000	0.21304	0.998000	0.41325	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	11.039	0.47035	878	0.29785	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1561.98	40	chr19	50667305	.	G	C	1561.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.749e+00;DP=945;ExcessHet=0.0000;FS=3.714;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=0.409;SOR=0.945	GT:AD:DP:GQ:PL	0/1:83,73:156:99:1576,0,2074	20	0	1	0
chr19	53015384	53015384	A	G	exonic	ERVV-1	.	nonsynonymous SNV	ERVV-1:NM_152473:exon1:c.A1294G:p.N432D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0053398772727	.	.	0.0003	0	0	0	0	0.0011	0	0	6.47e-05	10	154602	rs538575630	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0007	0.0007	0.0001	0.0003	0	9.345e-05	5.948e-05	0	0.0008	0.0003	1.593e-05	0.0004	0.0005	0.0004	0.0005	0.0009	0.0004	0.0003	0.0007	0.0007	2.414e-05	0	6.548e-05	0	0	0.0004	0	0.0009	0.0005	0	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	0.695	0.17993	N	2.27	0.17431	T	.	.	.	0.093	0.07262	.	.	.	.	.	.	.	0.012463838	0.00268	T	0.00534	0.13679	T	.	.	.	.	0.0611884634855	0.05136	0.09685635376112979	0.09617	.	.	0.430266618729	0.29244	T	0.001973	0.01384	T	-0.740875	0.00020	T	-0.887433	0.00595	T	.	.	.	0.256674	0.04023	T	0.10011152	0.23634	0.09367711	0.22137	0.10011152	0.23634	0.09367711	0.22137	-3.441	0.15614	T	.	.	0.103	0.18414	B	.	.	0.209562	0.05935	2.373	0.43790129973361935	0.03321	0.00005	0.00104	N	AEFDBI	0.011309	0.00097	N	.	.	.	.	.	.	1.06786251330966E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.235	0.235	0.14697	-0.207000	0.09388	.	.	-0.485000	0.05058	0.002000	0.15269	0.000000	0.08366	0.015000	0.10482	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	40.98	33	chr19	53015384	.	A	G	40.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.88;DP=818;ExcessHet=0.0000;FS=7.909;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.48;MQRankSum=-9.506e+00;QD=0.40;ReadPosRankSum=-1.588e+00;SOR=0.797	GT:AD:DP:GQ:PL	0/1:93,10:103:55:55,0,2740	20	0	1	0
chr19	53015394	53015394	-	AGG	exonic	ERVV-1	.	nonframeshift insertion	ERVV-1:NM_152473:exon1:c.1304_1305insAGG:p.G436_D437insG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.504e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	437.94	33	chr19	53015394	.	A	AAGG	437.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=814;ExcessHet=0.0000;FS=1.086;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.42;MQRankSum=-7.872e+00;QD=4.21;ReadPosRankSum=-2.826e+00;SOR=0.482	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,17:104:99:0|1:53015394_A_AAGG:452,0,3587:53015394	20	0	1	0
chr19	53015400	53015400	A	C	exonic	ERVV-1	.	nonsynonymous SNV	ERVV-1:NM_152473:exon1:c.A1310C:p.D437A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00441090245443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.515e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.686	0.05995	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	2.32	0.16640	T	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.051898956	0.05142	T	0.004411	0.10781	T	.	.	.	.	0.0611884634855	0.05136	0.12632603700778225	0.12558	.	.	0.384346932173	0.22871	T	1.06E-4	0.00011	T	-0.402529	0.02228	T	-0.815981	0.01535	T	.	.	.	0.338366	0.07261	T	0.07371221	0.16491	0.14017801	0.33422	0.07371221	0.16491	0.14017801	0.33421	-3.365	0.14589	T	.	.	0.117	0.23709	B	.	.	-0.441054	0.02063	0.189	0.11153381350603488	0.00160	0.00046	0.00367	N	AEFDBI	0.016257	0.00355	N	.	.	.	.	.	.	0.471100476487255	0.20708	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.235	-0.47	0.11525	-0.652000	0.05465	.	.	-0.520000	0.04980	0.003000	0.16062	0.000000	0.08366	0.019000	0.11356	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	557.98	33	chr19	53015400	.	A	C	557.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.914;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.45;MQRankSum=-7.324e+00;QD=5.12;ReadPosRankSum=-1.784e+00;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,20:109:99:0|1:53015394_A_AAGG:572,0,3662:53015394	20	0	1	0
chr19	53015408	53015408	G	A	exonic	ERVV-1	.	nonsynonymous SNV	ERVV-1:NM_152473:exon1:c.G1318A:p.G440R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010927778337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.63e-06	6.126e-06	7.914e-06	0	6.305e-06	6e-07	2.3e-07	1.05e-06	3.9e-07	0	0	0	0	0	0	6.305e-06	0	0	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.848	0.03527	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	-0.14	0.04484	N	2.24	0.17923	T	.	.	.	0.144	0.14480	.	.	.	.	.	.	.	0.07653469	0.11968	T	0.010928	0.28020	T	.	.	.	.	0.245660935333	0.24156	0.2119188138027519	0.21107	.	.	0.396701097488	0.24610	T	0.002221	0.01623	T	-0.422409	0.01651	T	-0.844538	0.01033	T	.	.	.	0.40156	0.10241	T	0.07125045	0.15760	0.15175174	0.35734	0.07125045	0.15759	0.15175174	0.35733	-5.192	0.38860	T	.	.	0.09	0.12607	B	.	.	-0.542775	0.01734	0.129	0.29021914708048896	0.01519	0.00280	0.01512	N	AEFDBI	0.037154	0.05064	N	.	.	.	.	.	.	1.08904686551139E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.235	-0.47	0.11525	-0.311000	0.08164	.	.	0.373000	0.20310	0.002000	0.15269	0.000000	0.08366	0.031000	0.13245	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	701.98	33	chr19	53015408	.	G	A	701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=814;ExcessHet=0.0000;FS=2.077;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.42;MQRankSum=-6.604e+00;QD=6.62;ReadPosRankSum=-1.771e+00;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,23:106:99:0|1:53015394_A_AAGG:716,0,3416:53015394	20	0	1	0
chr19	53015411	53015411	T	G	exonic	ERVV-1	.	nonsynonymous SNV	ERVV-1:NM_152473:exon1:c.T1321G:p.S441A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00673458077458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.63e-06	7.655e-06	7.914e-06	0	6.305e-06	6e-07	2.3e-07	1.05e-06	3.9e-07	0	0	0	0	0	0	6.305e-06	0	0	6.573e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.96	0.02548	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-0.345	0.03330	N	2.26	0.17596	T	.	.	.	0.086	0.06322	.	.	.	.	.	.	.	0.05994618	0.07287	T	0.006735	0.17784	T	.	.	.	.	0.0401082797425	0.02173	0.10697506200614833	0.10627	.	.	0.416446626186	0.27348	T	0.003382	0.02788	T	-0.426719	0.01552	T	-0.850729	0.00950	T	.	.	.	0.167383	0.01560	T	0.09142711	0.21423	0.08770301	0.20401	0.09142711	0.21423	0.08770301	0.20400	-4.437	0.30055	T	.	.	0.090	0.12797	B	.	.	-0.561765	0.01679	0.120	0.18381245831312676	0.00575	0.00113	0.00716	N	AEFDBI	0.024102	0.01439	N	.	.	.	.	.	.	0.00121609650915999	0.08343	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.235	-0.47	0.11525	-0.318000	0.08091	.	.	0.366000	0.20181	0.004000	0.16614	0.000000	0.08366	0.032000	0.13371	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	707.98	33	chr19	53015411	.	T	G	707.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=812;ExcessHet=0.0000;FS=0.978;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.39;MQRankSum=-6.530e+00;QD=6.81;ReadPosRankSum=-1.626e+00;SOR=0.931	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,23:104:99:0|1:53015394_A_AAGG:722,0,3312:53015394	20	0	1	0
chr19	53050615	53050615	A	C	exonic	ERVV-2	.	nonsynonymous SNV	ERVV-2:NM_001191055:exon2:c.A1364C:p.N455T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0174263652937	.	.	0.0002	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs777337894	3.213e-05	2.629e-05	2.105e-05	4.294e-05	0.0003	2.312e-05	2.04e-05	0.0002	0.0002	0.0001	0	0	2.919e-05	0	0	7.672e-06	0	0.0003	4.596e-05	4.594e-05	5.14e-05	4.028e-05	7.217e-05	2.108e-05	1.526e-05	1.972e-05	1.125e-05	7.217e-05	0	0	0	0	0	0	5.881e-05	0	0	.	.	.	0.921	0.02864	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.835	0.01514	N	2.63	0.12884	T	.	.	.	0.079	0.05414	.	.	.	.	.	.	.	0.044282585	0.03367	T	0.017426	0.39125	T	.	.	.	.	0.0297737177859	0.01360	0.05947128647048469	0.05887	.	.	0.487333476543	0.37070	T	0.001125	0.00635	T	-0.605362	0.00135	T	-0.809778	0.01670	T	.	.	.	0.223478	0.02897	T	0.13467239	0.31281	0.17155139	0.39346	0.13467239	0.31280	0.17155139	0.39345	-0.96	0.00956	T	.	.	0.081	0.08465	B	.	.	0.466189	0.08360	5.110	0.42048905811981652	0.03073	0.00607	0.02700	N	AEFI	0.036820	0.04968	N	.	.	.	.	.	.	1.35785891028029E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.692	0.10733	0.347000	0.19760	.	.	0.413000	0.20698	0.330000	0.25589	0.000000	0.08366	0.027000	0.12703	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	863.98	48	chr19	53050615	.	A	C	863.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.53;DP=1445;ExcessHet=0.0000;FS=15.406;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.36;MQRankSum=-7.983e+00;QD=3.66;ReadPosRankSum=-1.902e+00;SOR=1.720	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,36:236:99:0|1:53050615_A_C:878,0,8192:53050615	20	0	1	0
chr19	53050616	53050616	C	A	exonic	ERVV-2	.	nonsynonymous SNV	ERVV-2:NM_001191055:exon2:c.C1365A:p.N455K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0130231266713	.	.	0.0002	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs753373875	3.193e-05	2.768e-05	2.091e-05	4.27e-05	0.0003	2.298e-05	2.028e-05	0.0002	0.0002	0.0001	0	0	2.916e-05	0	0	7.615e-06	0	0.0003	4.596e-05	4.593e-05	5.138e-05	4.029e-05	7.215e-05	2.108e-05	1.526e-05	1.972e-05	1.124e-05	7.215e-05	0	0	0	0	0	0	5.88e-05	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.14	0.04484	N	2.61	0.13095	T	.	.	.	0.018	0.00252	.	.	.	.	.	.	.	0.043982923	0.03305	T	0.013023	0.32090	T	.	.	.	.	0.0297737177859	0.01360	0.05710995342002677	0.05651	.	.	0.477726191282	0.35744	T	0.001096	0.00611	T	-0.65627	0.00066	T	-0.882903	0.00630	T	.	.	.	0.239776	0.03423	T	0.08376331	0.19357	0.14909603	0.35218	0.08376331	0.19356	0.14909603	0.35217	-1.852	0.02669	T	.	.	0.080	0.07889	B	.	.	0.160499	0.05509	1.974	0.18693191156795788	0.00599	0.00085	0.00571	N	AEFI	0.020425	0.00806	N	.	.	.	.	.	.	9.09316817981347E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.835	0.10230	-0.657000	0.05435	.	.	-0.500000	0.05022	0.330000	0.25589	0.001000	0.17328	0.024000	0.12247	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	863.98	48	chr19	53050616	.	C	A	863.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.600e-01;DP=1446;ExcessHet=0.0000;FS=15.406;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.36;MQRankSum=-7.983e+00;QD=3.66;ReadPosRankSum=-1.244e+00;SOR=1.720	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,36:236:99:0|1:53050615_A_C:878,0,8192:53050615	20	0	1	0
chr19	54595129	54595129	C	A	exonic	LILRA1	.	nonsynonymous SNV	LILRA1:NM_001278319:exon4:c.C388A:p.L130I	.	.	2	1519	0	1	0	2	0.000657895	.	.	2197476	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.961	D	0.926	D	0.719	N	0.994	N	3.175	M	4.09	T	-1.064	T	0.037	T	0.151	2.150	13.15	-0.055	0.226	0.207	3.922	0.103	0.0022821819566	0.0002	.	5.775e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs370524319	0.0001	0.0001	0.0001	0.0001	0.0024	0.0001	0.0001	0.0015	0.0012	2.987e-05	0	0	0	0	0.0024	0.0001	0.0002	3.478e-05	5.256e-05	5.253e-05	7.706e-05	2.69e-05	0.0001	2.557e-05	1.83e-05	2.846e-05	1.858e-05	2.413e-05	0	0.0001	0	0	0	0	7.35e-05	0	0	0.003	0.68238	D	0.055	0.51112	T	0.961	0.55431	D	0.926	0.66095	D	0.719252	0.06304	N	1.190710	0.999995	0.42106	N	3.035	0.86516	M	4.09	0.02973	T	-1.84	0.43149	N	0.121	0.11197	-1.0642	0.10736	T	0.037	0.16073	T	10	0.09076586	0.15842	T	0.002282	0.04369	T	0.103	0.29403	.	.	0.310147130316	0.30628	0.01657012115728579	0.01612	0.181330689038	0.20389	0.344107449055	0.17051	T	0.003301	0.02708	T	-0.417526	0.01774	T	-0.589214	0.13734	T	0.125334037009565	0.14944	T	.	.	.	0.17373905	0.38138	0.15480886	0.36316	0.17373905	0.38138	0.15480886	0.36316	-9.197	0.69751	D	.	.	0.109	0.20896	B	.;.	.;.	2.327990	0.29821	18.24	0.98892854837983157	0.48037	0.04123	0.09600	N	AEFBI	0.072097	0.14377	N	-0.490144427628977	0.22403	1.196005	-0.769834031182154	0.15235	0.8002781	0.999580754719428	0.40607	0.582742	0.33608	0	0.541168	0.11318	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.24	-0.0549	0.13142	-0.070000	0.11483	.	.	-0.274000	0.06627	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.5827:0.0:0.4173	3.922	0.08748	946	0.12043	Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	5347.98	152	chr19	54595129	.	C	A	5347.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.371e+00;DP=3122;ExcessHet=0.0000;FS=2.728;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=-6.900e-01;SOR=0.838	GT:AD:DP:GQ:PL	0/1:204,194:398:99:5362,0,5468	20	0	1	0
chr19	54633108	54633108	T	C	exonic	LILRB1	.	nonsynonymous SNV	LILRB1:NM_001081637:exon7:c.T1051C:p.W351R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.005	B	0.000	N	1.000	N	0.64	N	4.11	T	-0.937	T	0.006	T	0.074	-0.437	1.968	-4.16	-1.178	-4.299	2.666	0.016	0.000983764574232	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs765206177	1.262e-05	1.321e-05	1.117e-05	1.408e-05	0.0002	7.89e-06	6.51e-06	0.0001	8.812e-05	3.147e-05	0	0	0	0	0	0	3.399e-05	0.0002	2.098e-05	2.088e-05	2.735e-05	1.431e-05	0.0007	5.58e-06	2.55e-06	0.0002	9.61e-05	0	0	0	0	0	0	0	0	0	0.0007	0.426	0.09746	T	0.473	0.12281	T	0.0	0.02946	B	0.002	0.06944	B	0.000057	0.00387	N	14.826600	1	0.08975	N	.	.	.	4.11	0.02916	T	-1.47	0.45042	N	0.058	0.03175	-0.9373	0.43041	T	0.006	0.02168	T	10	0.032902986	0.01452	T	9.84E-4	0.01026	T	0.016	0.02506	0.42	0.46200	0.355658859761	0.35178	0.06504777047916012	0.06443	0.0951957454739	0.10748	0.260372936726	0.04935	T	0.003953	0.03423	T	-0.602758	0.00140	T	-0.799049	0.01926	T	0.0297089204965355	0.01945	T	0.0123321	0.00111	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.48827	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.464652	0.01982	0.173	0.27383360219759167	0.01357	0.00158	0.00946	N	AEFDBHCI	0.036166	0.04774	N	-2.07763132330582	0.00143	0.006134361	-2.16231796484525	0.00136	0.005972342	0.998419139002024	0.36924	0.645754	0.44609	0	0.696144	0.67643	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	2.25	-4.16	0.03606	-3.674000	0.00445	.	.	-1.333000	0.01212	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3566:0.2413:0.0:0.4021	2.666	0.04739	809	0.43032	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	75915.23	337	chr19	54633108	.	T	G,C	75915.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=1.38;DP=7609;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.07;MQRankSum=-1.416e+01;QD=10.13;ReadPosRankSum=3.92;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:296,158,0:454:99:0|1:54633108_T_G:5742,0,11894,6633,12370,19003:54633108	1	0	19	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T	.	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	2.195	M	7.25	T	-0.797	T	0.003	T	0.159	-2.076	0.006	-0.836	-3.588	-0.374	0.314	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	11817.48	33	chr19	54739533	.	C	A	11817.48	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-1.378e+00;DP=7438;ExcessHet=20.9642;FS=1.551;InbreedingCoeff=-0.6399;MLEAC=16;MLEAF=0.400;MQ=55.59;MQRankSum=1.01;QD=1.92;ReadPosRankSum=1.26;SOR=0.542	GT:AD:DP:GQ:PL	0/1:461,84:545:99:737,0,14164	4	0	16	1
chr19	54742019	54742019	C	T	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon3:c.C110T:p.P37L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.181	B	0.069	B	.	.	1.000	N	2.52	M	5.76	T	-1.016	T	0.017	T	0.347	0.259	5.400	0.507	0.253	1.801	5.886	0.076	0.00102173653182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.394e-07	7.092e-07	0	1.485e-06	2.396e-05	0	0	.	.	0	2.396e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.01	0.65728	D	0.181	0.29111	B	0.041	0.23986	B	.	.	.	.	1	0.08975	N	2.56	0.74772	M	3.95	0.03382	T	-6.54	0.91786	D	0.223	0.25006	-1.0164	0.24884	T	0.017	0.06807	T	9	0.12389034	0.23525	T	0.001022	0.01120	T	0.076	0.22200	0.37	0.38013	0.335164054921	0.33125	0.19209035572317168	0.19127	1.791941562	0.91524	.	.	.	0.020233	0.15966	T	-0.175002	0.24481	T	-0.489154	0.23479	T	0.20912588440861	0.20907	T	.	.	.	0.17275815	0.37985	0.1681736	0.38757	0.17275815	0.37985	0.1681736	0.38756	-8.822	0.66544	D	.	.	0.125	0.26514	B	.	.	1.590162	0.20337	14.70	0.57320471306848364	0.05743	0.01560	0.05104	N	AEFI	0.030433	0.03063	N	-1.06537834965913	0.07289	0.338164	-1.21954413589658	0.05596	0.2670848	1.74798417143001E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.6	0.507	0.16168	1.859000	0.39058	.	.	0.303000	0.18983	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.0:0.6648:0.3352:0.0	5.886	0.18127	964	0.07719	Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	38391.65	39	chr19	54742019	.	C	G,T	38391.65	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-4.248e+00;DP=5023;ExcessHet=10.5502;FS=2.011;InbreedingCoeff=-0.4135;MLEAC=15,1;MLEAF=0.357,0.024;MQ=49.81;MQRankSum=0.016;QD=8.38;ReadPosRankSum=0.547;SOR=0.509	GT:AD:DP:GQ:PL	1/2:97,107,92:296:47:2830,189,2758,47,0,2657	6	0	14	0
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D,	.	.	438	644	313	127	0	567	0.30566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.927	P	0.953	D	.	.	1.000	N	1.66	L	7.17	T	-0.907	T	0.003	T	0.251	0.161	4.868	-1.94	-0.713	0.615	4.008	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	21150.31	340	chr19	54752378	.	A	T	21150.31	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-3.320e+00;DP=5262;ExcessHet=5.2939;FS=0.000;InbreedingCoeff=-0.2512;MLEAC=17;MLEAF=0.425;MQ=55.87;MQRankSum=-1.639e+01;QD=5.39;ReadPosRankSum=2.32;SOR=0.699	GT:AD:DP:GQ:PL	0/1:228,151:379:99:3284,0,6087	6	2	12	1
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T,	.	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.137	B	0.073	B	.	.	1.000	N	1.885	L	7.21	T	-0.958	T	0.001	T	0.079	-0.731	0.875	-2.12	-2.428	-1.068	4.380	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	28617.15	340	chr19	54752434	.	G	C	28617.15	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-1.210e+00;DP=6144;ExcessHet=5.2939;FS=7.479;InbreedingCoeff=-0.2500;MLEAC=17;MLEAF=0.425;MQ=56.79;MQRankSum=-1.832e+01;QD=6.00;ReadPosRankSum=1.58;SOR=1.014	GT:AD:DP:GQ:PL	0/1:288,150:438:99:4456,0,7507	6	2	12	1
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C,	.	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.006	B	0.003	B	.	.	1.000	N	1.1	L	7.14	T	-0.946	T	0.001	T	0.168	-0.325	2.456	-1.82	-2.219	0.300	4.091	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	33791.15	340	chr19	54752445	.	C	T	33791.15	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.020e-01;DP=6238;ExcessHet=5.2939;FS=10.711;InbreedingCoeff=-0.2500;MLEAC=17;MLEAF=0.425;MQ=56.95;MQRankSum=-1.853e+01;QD=6.90;ReadPosRankSum=-2.400e-01;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:311,150:461:99:.:.:5363,0,12493	6	2	12	1
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T,	.	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.001	B	0.004	B	.	.	1.000	N	0.74	N	7.07	T	-0.942	T	0.001	T	0.034	-1.003	0.256	-0.268	-0.552	-0.743	3.096	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.375	17127.06	73	chr19	54752485	.	T	C	17127.06	.	AC=15;AF=0.375;AN=40;BaseQRankSum=1.81;DP=4524;ExcessHet=3.6553;FS=28.218;InbreedingCoeff=-0.1733;MLEAC=16;MLEAF=0.400;MQ=57.11;MQRankSum=-1.853e+01;QD=4.19;ReadPosRankSum=-2.676e+00;SOR=2.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:289,103:392:99:0|1:54752482_T_C:3404,0,11764:54752482	7	2	11	1
chr19	54752511	54752511	G	A	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G1018A:p.E340K,	.	.	471	887	74	90	0	254	0.125247	.	.	2330855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.927	P	0.801	P	.	.	1.000	N	1.7	L	7.23	T	-0.964	T	0.002	T	0.108	-0.217	2.948	-1.82	-2.079	-1.122	6.337	0.023	0.00058277682123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878939548	6.015e-06	0.0002	4.476e-06	7.577e-06	2.785e-05	2.59e-06	1.87e-06	4.62e-06	1.73e-06	0	0	0	0	3.975e-05	0	3.938e-06	0	2.785e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.169	0.22920	T	0.141	0.33442	T	0.014	0.16867	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.56	0.39490	L	7.23	0.00430	T	-1.59	0.38345	N	0.036	0.01068	-0.9636	0.38488	T	0.002	0.00707	T	9	0.048668027	0.04349	T	5.83E-4	0.00246	T	0.023	0.04649	0.359	0.36222	0.201204373187	0.19734	0.14158577538071196	0.14081	0.485544564949	0.47430	.	.	.	0.006937	0.06364	T	-0.364647	0.03874	T	-0.761566	0.03056	T	0.472253292798996	0.31613	T	.	.	.	0.035863034	0.04304	0.048440736	0.07194	0.035863034	0.04303	0.048440736	0.07193	-4.19	0.26607	T	.	.	0.087	0.11317	B	.	.	-0.236831	0.02908	0.420	0.60687808817287325	0.06524	0.00049	0.00384	N	AEFI	0.023028	0.01229	N	-1.55887154151576	0.01484	0.06475221	-1.76960007506711	0.00862	0.03850489	6.95773214814763E-5	0.04366	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-1.609000	0.02169	.	.	-1.067000	0.01603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5547:0.0:0.4453:0.0	6.337	0.20509	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.275	5860.81	73	chr19	54752511	.	G	A	5860.81	.	AC=11;AF=0.275;AN=40;BaseQRankSum=4.75;DP=3070;ExcessHet=0.4926;FS=36.779;InbreedingCoeff=0.1222;MLEAC=11;MLEAF=0.275;MQ=57.65;MQRankSum=-1.666e+01;QD=2.73;ReadPosRankSum=-1.190e-01;SOR=4.105	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:283,57:340:99:0|1:54752511_G_A:1462,0,11470:54752511	11	2	7	1
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	10320.24	37	chr19	54760643	.	A	G	10320.24	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.066e+00;DP=4116;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4489;MLEAC=13;MLEAF=0.310;MQ=53.53;MQRankSum=-6.940e+00;QD=3.09;ReadPosRankSum=-1.857e+00;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:378,92:470:99:0|1:54760643_A_G:2725,0,15380:54760643	8	0	13	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	11917.16	37	chr19	54760651	.	G	C	11917.16	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.207e+00;DP=4125;ExcessHet=11.8493;FS=0.785;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=54.02;MQRankSum=-7.539e+00;QD=3.52;ReadPosRankSum=-5.850e-01;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:378,100:478:99:0|1:54760643_A_G:3061,0,15506:54760643	8	0	13	0
chr19	54760659	54760659	G	A	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	417	909	196	0	0	196	0.0973188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs57865271	1.259e-05	2.057e-05	1.532e-05	9.832e-06	3.033e-05	7.87e-06	6.49e-06	3.9e-06	2.82e-06	3.033e-05	2.283e-05	0	0	0	0	8.284e-06	0.0001	1.176e-05	4.775e-05	8.644e-05	3.992e-05	5.599e-05	0.0003	2.182e-05	1.574e-05	9.529e-05	5.69e-05	2.488e-05	0	0.0003	0	0	0	0	3.045e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.119	5323.44	37	chr19	54760659	.	G	A	5323.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-3.612e+00;DP=4063;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=53.72;MQRankSum=-6.027e+00;QD=3.24;ReadPosRankSum=-3.710e-01;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:379,103:482:99:0|1:54760643_A_G:3184,0,15590:54760643	16	0	5	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	14816.48	37	chr19	54760665	.	T	C	14816.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.128e+00;DP=4120;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=54.82;MQRankSum=-8.959e+00;QD=3.99;ReadPosRankSum=1.59;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:368,105:473:99:0|1:54760643_A_G:3301,0,15136:54760643	7	0	14	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15285.48	37	chr19	54760676	.	T	A	15285.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.658e+00;DP=4024;ExcessHet=14.4320;FS=0.732;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=55.58;MQRankSum=-9.713e+00;QD=4.21;ReadPosRankSum=2.84;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:353,105:458:99:0|1:54760643_A_G:3346,0,14506:54760643	7	0	14	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15714.52	37	chr19	54760692	.	A	G	15714.52	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.369e+00;DP=3836;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5003;MLEAC=14;MLEAF=0.333;MQ=56.22;MQRankSum=-1.158e+01;QD=4.47;ReadPosRankSum=4.04;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:345,105:450:99:0|1:54760643_A_G:3370,0,14137:54760643	7	0	14	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15927.52	37	chr19	54760695	.	T	C	15927.52	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.378e+00;DP=3798;ExcessHet=14.4320;FS=0.728;InbreedingCoeff=-0.5003;MLEAC=14;MLEAF=0.333;MQ=56.26;MQRankSum=-1.138e+01;QD=4.62;ReadPosRankSum=4.12;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:337,105:442:99:0|1:54760643_A_G:3395,0,13781:54760643	7	0	14	0
chr19	54767322	54767322	C	T	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.C1001T:p.T334M,	.	.	436	1034	40	12	0	64	0.0300188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274559595	3.256e-05	0.0020	3.239e-05	3.273e-05	0.0002	2.496e-05	2.232e-05	7.519e-05	5.313e-05	0.0001	0.0002	8.218e-05	0.0001	1.911e-05	0	1.768e-05	3.432e-05	8.472e-05	0.0001	0.0028	8.339e-05	0.0002	0.0004	9.419e-05	7.868e-05	0.0001	9.679e-05	2.591e-05	0	0.0004	0	0.0002	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	211.53	38	chr19	54767322	.	C	T	211.53	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.22;DP=3717;ExcessHet=0.1072;FS=5.524;InbreedingCoeff=-0.0399;MLEAC=1;MLEAF=0.024;MQ=58.48;MQRankSum=-1.858e+01;QD=0.21;ReadPosRankSum=-2.022e+00;SOR=1.428	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:625,45:670:2:.:.:2,0,25768	19	0	2	0
chr19	54767339	54767339	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G1018A:p.E340K,	.	.	437	984	91	10	0	111	0.0533911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372790026	1.835e-05	2.225e-05	2.247e-05	1.418e-05	2.535e-05	1.277e-05	1.085e-05	1.422e-05	1.188e-05	0	0	0	2.535e-05	1.906e-05	0	2.136e-05	1.709e-05	0	6.928e-06	6.727e-06	1.348e-05	0	1.538e-05	0	0	.	.	0	0	0	0	0	0	0	1.538e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	866.68	38	chr19	54767339	.	G	A	866.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.688e+00;DP=4012;ExcessHet=0.3300;FS=2.181;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.38;MQRankSum=-1.830e+01;QD=0.65;ReadPosRankSum=-6.090e-01;SOR=0.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:599,48:647:99:0|1:54767339_G_A:213,0,24770:54767339	18	0	3	0
chr19	54767342	54767342	T	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.T1021C:p.S341P,	.	.	439	981	92	10	0	112	0.0540019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213695475	0.0003	0.0051	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0.0004	0.0011	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0067	0.0006	0.0004	0.0011	0.0004	0.0004	0.0009	0.0008	0.0011	0.0012	0.0004	0.0003	0	0	0.0037	0.0002	0.0016	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	724.68	38	chr19	54767342	.	T	C	724.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.300e-02;DP=3993;ExcessHet=0.3300;FS=1.028;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.41;MQRankSum=-1.835e+01;QD=0.54;ReadPosRankSum=-6.200e-01;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:601,47:648:99:0|1:54767339_G_A:165,0,24920:54767339	18	0	3	0
chr19	54767349	54767349	C	-	exonic	KIR2DL1;LOC112267881	.	frameshift deletion	KIR2DL1:NM_014218:exon8:c.1028delC:p.S343fs,	.	.	439	964	109	10	0	129	0.0627127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.062e-07	3.477e-06	1.406e-06	0	2.535e-05	0	0	.	.	0	0	0	2.535e-05	0	0	0	0	0	0	6.726e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	834.64	38	chr19	54767348	.	TC	T	834.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-9.180e-01;DP=3969;ExcessHet=0.3300;FS=1.030;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.38;MQRankSum=-1.822e+01;QD=0.64;ReadPosRankSum=0.322;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:587,49:636:99:0|1:54767339_G_A:284,0,24501:54767339	18	0	3	0
chr19	54767352	54767354	AAG	-	exonic	KIR2DL1;LOC112267881	.	nonframeshift deletion	KIR2DL1:NM_014218:exon8:c.1031_1033del:p.344_345del,	.	.	437	959	116	10	0	136	0.0662123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.118e-06	3.477e-06	2.811e-06	1.419e-06	2.535e-05	5.6e-07	1.6e-07	.	.	0	0	0	2.535e-05	0	0	0	1.709e-05	1.198e-05	0	6.715e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	967.64	38	chr19	54767351	.	AAAG	A	967.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.515e+00;DP=4059;ExcessHet=0.3300;FS=0.992;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.35;MQRankSum=-1.729e+01;QD=0.75;ReadPosRankSum=0.647;SOR=0.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:581,52:633:99:0|1:54767339_G_A:386,0,24213:54767339	18	0	3	0
chr19	54767353	54767353	A	0	exonic	KIR2DL1;LOC112267881	.	.	.	.	.	444	526	404	111	37	663	0.373063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	59730.09	38	chr19	54767353	.	A	C,*	59730.09	.	AC=13,2;AF=0.310,0.048;AN=42;BaseQRankSum=-1.860e+00;DP=4843;ExcessHet=0.1361;FS=0.529;InbreedingCoeff=0.2741;MLEAC=13,2;MLEAF=0.310,0.048;MQ=58.91;MQRankSum=0.00;QD=14.36;ReadPosRankSum=0.166;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:294,265,52:611:99:.:.:5906,0,7342,5415,6731,21699	10	4	5	0
chr19	54775212	54775212	-	GCACAGGAGAGAACGTGACCTTGTCCTGCAGCTCCAGGAGCTCATTTGACATGTACCATCTATCCAGGGAGGGGAGGGCCCATGAACCTAGGCTCCCTGCAGTGCCCAGCGTCGATGGAACAT	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonframeshift insertion	LOC112267881:NM_001368251:exon4:c.418_419insGCACAGGAGAGAACGTGACCTTGTCCTGCAGCTCCAGGAGCTCATTTGACATGTACCATCTATCCAGGGAGGGGAGGGCCCATGAACCTAGGCTCCCTGCAGTGCCCAGCGTCGATGGAACAT:p.L140delinsRTGENVTLSCSSRSSFDMYHLSREGRAHEPRLPAVPSVDGTL	.	.	418	1102	1	0	1	2	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1503.94	369	chr19	54775212	.	C	CGCACAGGAGAGAACGTGACCTTGTCCTGCAGCTCCAGGAGCTCATTTGACATGTACCATCTATCCAGGGAGGGGAGGGCCCATGAACCTAGGCTCCCTGCAGTGCCCAGCGTCGATGGAACAT	1503.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.69;DP=6312;ExcessHet=0.0000;FS=5.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.41;MQRankSum=-1.875e+01;QD=2.51;ReadPosRankSum=-1.130e+01;SOR=1.391	GT:AD:DP:GQ:PL	0/1:526,74:600:99:1518,0,21751	20	0	1	0
chr19	54804844	54804844	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A128G:p.Q43R	.	.	401	1030	89	2	0	93	0.0431955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.006	B	0.024	B	0.135	U	1.000	N	0.395	N	2.65	T	-1.000	T	0.021	T	0.122	-0.252	2.787	-1.57	-0.635	-1.621	2.076	0.004	0.00113660302036	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs867586202	1.369e-06	2.737e-06	0	2.752e-06	2.995e-05	2.3e-07	9e-08	.	.	2.995e-05	0	0	0	0	0	0	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.23997	T	0.596	0.08052	T	0.005	0.12996	B	0.004	0.14941	B	0.135009	0.02839	U	2.391850	1	0.08975	N	0.575	0.15311	N	2.65	0.12676	T	-1.42	0.38540	N	0.098	0.10769	-1.0000	0.29917	T	0.021	0.08778	T	10	0.07379338	0.11196	T	0.001137	0.01410	T	0.004	0.00165	.	.	0.117191471859	0.11215	0.2764269249833639	0.27555	1.63837144597	0.89330	.	.	.	.	.	.	-0.375957	0.03303	T	-0.777812	0.02520	T	0.0943192406486319	0.11720	T	.	.	.	.	.	.	.	.	.	.	.	-6.927	0.54645	T	.	.	0.067	0.04002	B	.;.;.;.	.;.;.;.	-1.101816	0.00638	0.017	0.44240031913180755	0.03387	0.00284	0.01530	N	AEFDBI	0.054807	0.09996	N	-1.5917883983119	0.01306	0.05686907	-1.68956066485271	0.01184	0.05329264	2.77527207762171E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.14	-1.57	0.08055	-2.911000	0.00765	.	.	-4.062000	0.00044	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.404:0.3002:0.0:0.2958	2.076	0.03404	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	513.42	37	chr19	54804844	.	A	G	513.42	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-5.090e-01;DP=1526;ExcessHet=1.1607;FS=2.426;InbreedingCoeff=-0.1348;MLEAC=5;MLEAF=0.119;MQ=59.00;MQRankSum=-1.152e+01;QD=0.68;ReadPosRankSum=-8.850e-01;SOR=1.158	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,17:226:85:0|1:54804844_A_G:85,0,8639:54804844	16	0	5	0
chr19	54804865	54804865	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G149T:p.R50L	.	.	399	1022	98	3	0	104	0.0484171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.018	B	0.055	B	0.007	U	1.000	N	0.995	L	2.62	T	-0.999	T	0.029	T	0.188	0.031	4.173	-2.81	-1.080	-0.485	5.745	0.028	0.0010606096064	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs377230503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.578e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.129	0.26852	T	0.099	0.43344	T	0.001	0.17573	B	0.009	0.25828	B	0.006549	0.01130	U	4.963860	1	0.08975	N	0.87	0.21467	L	2.62	0.12988	T	-3.67	0.70553	D	0.243	0.32259	-0.9992	0.30143	T	0.029	0.12453	T	10	0.2224595	0.38999	T	0.001061	0.01215	T	0.028	0.06331	.	.	0.110392049598	0.10638	0.28005680441547837	0.27918	1.86795582778	0.92482	.	.	.	.	.	.	-0.326378	0.06390	T	-0.706596	0.05473	T	0.0639145414373501	0.07769	T	.	.	.	.	.	.	.	.	.	.	.	-8.044	0.61370	D	.	.	0.138	0.32756	B	.;.;.;.	.;.;.;.	0.035535	0.04534	1.227	0.73877348709050461	0.10488	0.00388	0.01954	N	AEFDBI	0.065265	0.12721	N	-1.54790257383302	0.01547	0.06756762	-1.67935926748713	0.01231	0.05548239	8.43516041031511E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.41	-2.81	0.05459	-0.685000	0.05269	.	.	-3.641000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6012:0.0:0.3988:0.0	5.745	0.17382	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	719.03	37	chr19	54804865	.	G	T	719.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=2.45;DP=1630;ExcessHet=1.7912;FS=7.115;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=58.85;MQRankSum=-1.237e+01;QD=0.67;ReadPosRankSum=1.33;SOR=1.603	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:241,20:261:99:0|1:54804844_A_G:114,0,10059:54804844	15	0	6	0
chr19	54804871	54804871	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A155G:p.H52R	.	.	410	1016	93	3	0	99	0.0464571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.016	B	0.014	B	.	.	1.000	N	-0.165	N	2.75	T	-0.922	T	0.011	T	0.325	-2.184	0.005	1.42	0.897	-0.253	4.935	0.050	0.000703869014878	.	.	.	.	.	.	.	.	.	.	.	.	.	rs752329065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.992	0.03949	T	0.621	0.07419	T	0.003	0.12996	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.17	0.09006	N	2.75	0.11622	T	-3.37	0.67477	D	0.076	0.06059	-0.9219	0.45293	T	0.011	0.04321	T	9	0.061050594	0.07594	T	7.04E-4	0.00435	T	0.050	0.13987	.	.	0.305252298933	0.30134	0.14574877287000448	0.14497	1.80914359211	0.91782	.	.	.	.	.	.	-0.282495	0.10405	T	-0.643561	0.09412	T	0.0325404564850766	0.02395	T	.	.	.	.	.	.	.	.	.	.	.	-6.886	0.53196	T	.	.	0.100	0.18746	B	.;.;.;.	.;.;.;.	0.039253	0.04558	1.245	0.55635480641941515	0.05383	0.00516	0.02410	N	AEFDBI	0.041908	0.06434	N	-1.27066159650474	0.04033	0.1813008	-1.2984096394167	0.04452	0.2100502	3.65028250344946E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.504000	0.06456	.	.	-0.282000	0.06404	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0:0.0:0.0:0.0	4.935	0.13288	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	605.02	37	chr19	54804871	.	A	G	605.02	.	AC=6;AF=0.143;AN=42;BaseQRankSum=0.129;DP=1668;ExcessHet=1.7912;FS=5.545;InbreedingCoeff=-0.1665;MLEAC=6;MLEAF=0.143;MQ=58.89;MQRankSum=-1.263e+01;QD=0.54;ReadPosRankSum=1.81;SOR=1.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,20:270:87:0|1:54804844_A_G:87,0,10437:54804844	15	0	6	0
chr19	54804874	54804874	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A158C:p.Y53S	.	.	418	512	448	92	52	684	0.381643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.009	B	0.008	B	.	.	1.000	N	-1.815	N	2.81	T	-0.959	T	0.005	T	0.163	-2.574	0.003	-2.83	-0.824	-0.505	4.673	0.064	0.00123731148339	.	.	.	.	.	.	.	.	.	.	.	.	.	rs618835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.03314	T	0.009	0.15093	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-2.005	0.00192	N	2.81	0.10975	T	-0.12	0.17003	N	0.094	0.07398	-0.9592	0.39330	T	0.005	0.01688	T	9	0.038850784	0.02333	T	0.001237	0.01658	T	0.064	0.18567	.	.	0.0934897674506	0.08844	0.30959537037651635	0.30872	2.03392677507	0.94150	.	.	.	.	.	.	-0.349958	0.04730	T	-0.740467	0.03871	T	0.0372104795728204	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	-4.582	0.31945	T	.	.	0.096	0.15385	B	.;.;.;.	.;.;.;.	-1.038539	0.00718	0.021	0.36897408776256096	0.02400	0.00044	0.00357	N	AEFDBI	0.024914	0.01621	N	-2.04652454016145	0.00168	0.00718835	-2.03550390589525	0.00257	0.01134907	6.47260531587824E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.100000	0.03450	.	.	-3.205000	0.00110	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2532:0.5344:0.2124:0.0	4.673	0.12084	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	33079.42	37	chr19	54804874	.	A	G,C	33079.42	.	AC=12,3;AF=0.286,0.071;AN=42;BaseQRankSum=1.71;DP=3078;ExcessHet=3.1640;FS=0.523;InbreedingCoeff=-0.1340;MLEAC=12,3;MLEAF=0.286,0.071;MQ=59.39;MQRankSum=-3.020e+00;QD=12.12;ReadPosRankSum=0.071;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:124,125,20:269:99:.:.:3049,0,3078,2902,2941,9828	8	1	9	0
chr19	54804880	54804880	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G164T:p.R55L	.	.	409	1018	92	3	0	98	0.0459231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.001	B	0.003	B	0.331	N	1.000	N	-0.67	N	5.87	T	-0.912	T	0.001	T	0.153	-2.839	0	-2.83	-4.059	-2.987	0.680	0.011	0.000590234751616	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200970576	6.845e-07	2.052e-06	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.707	0.14075	T	0.0	0.02946	B	0.003	0.08700	B	0.330964	0.04130	N	1.871750	1	0.08975	N	-0.59	0.02258	N	2.55	0.13795	T	-5.64	0.86914	D	0.096	0.07673	-0.9120	0.46607	T	0.001	0.00408	T	10	0.036497056	0.01952	T	5.9E-4	0.00260	T	0.011	0.01250	.	.	0.043077524339	0.03247	0.18736213989536712	0.18654	1.8200784132	0.91936	.	.	.	.	.	.	-0.317922	0.07070	T	-0.69445	0.06134	T	0.176434934139252	0.19007	T	.	.	.	.	.	.	.	.	.	.	.	-3.794	0.20715	T	.	.	0.105	0.22391	B	.;.;.;.	.;.;.;.	-2.096588	0.00081	0.001	0.52377389892480175	0.04736	0.00034	0.00302	N	AEFDBI	0.026426	0.01982	N	-2.4206702032517	0.00024	0.001049992	-2.48006166947468	0.00026	0.001135847	0.181087630750471	0.17872	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-4.363000	0.00281	.	.	-4.734000	0.00021	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3206:0.1414:0.3286:0.2094	0.680	0.00818	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	464.49	37	chr19	54804880	.	G	T	464.49	.	AC=5;AF=0.119;AN=42;BaseQRankSum=2.66;DP=2756;ExcessHet=1.1607;FS=5.535;InbreedingCoeff=-0.1357;MLEAC=5;MLEAF=0.119;MQ=58.94;MQRankSum=-1.298e+01;QD=0.50;ReadPosRankSum=2.90;SOR=1.647	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:261,20:281:54:0|1:54804844_A_G:54,0,10899:54804844	16	0	5	0
chr19	54804889	54804889	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A173C:p.N58T	.	.	410	1009	100	3	0	106	0.0499058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.001	B	0.005	B	0.568	U	1.000	N	0.865	L	2.81	T	-0.967	T	0.015	T	0.067	-0.363	2.287	-2.83	-1.188	-0.877	0.111	0.083	0.00160012747995	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252008475	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.28	0.17643	T	0.421	0.18395	T	0.0	0.02946	B	0.004	0.10090	B	0.568075	0.11267	U	0.710467	1	0.08975	N	1.085	0.27262	L	2.81	0.10975	T	-1.31	0.33798	N	0.161	0.16864	-0.9669	0.37834	T	0.015	0.06090	T	10	0.07299557	0.10970	T	0.002	0.02574	T	0.083	0.24192	.	.	0.168254554758	0.16434	0.1070846243563384	0.10638	1.5630790888	0.88064	.	.	.	.	.	.	-0.408466	0.02035	T	-0.824509	0.01363	T	0.146632224321365	0.16832	T	.	.	.	.	.	.	.	.	.	.	.	-6.799	0.52552	T	.	.	0.159	0.35849	B	.;.;.;.	.;.;.;.	-0.436821	0.02079	0.193	0.48969850087904854	0.04130	0.00254	0.01397	N	AEFDBI	0.042854	0.06702	N	-1.61109278381861	0.01210	0.05261721	-1.73396012362405	0.00995	0.04459112	9.2797908283636E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.660000	0.02075	.	.	-3.494000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3389:0.242:0.1805:0.2386	0.111	0.00052	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	446.36	37	chr19	54804889	.	A	C	446.36	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.433;DP=2783;ExcessHet=1.1607;FS=5.552;InbreedingCoeff=-0.1320;MLEAC=5;MLEAF=0.119;MQ=58.94;MQRankSum=-1.310e+01;QD=0.47;ReadPosRankSum=3.56;SOR=1.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:275,20:295:12:0|1:54804844_A_G:12,0,11487:54804844	16	0	5	0
chr19	54804898	54804898	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C182G:p.T61R	.	.	407	1007	105	3	0	111	0.0522353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.879	P	0.624	P	0.370	N	1.000	N	0.82	L	2.61	T	-1.047	T	0.034	T	0.121	-1.268	0.045	-2.83	-2.561	-4.420	4.699	0.004	0.000577800184532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347429978	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.156	0.30235	T	0.417	0.14241	T	0.008	0.14655	B	0.014	0.16862	B	0.370126	0.04357	N	1.761550	1	0.08975	N	0.19	0.09125	N	2.61	0.13095	T	-0.99	0.33798	N	0.166	0.17553	-1.0466	0.15361	T	0.034	0.14726	T	10	0.06646973	0.09122	T	5.78E-4	0.00246	T	0.004	0.00165	.	.	0.123314135267	0.11883	0.2663305671272793	0.26546	1.74321032565	0.90897	.	.	.	.	.	.	-0.374164	0.03389	T	-0.775237	0.02600	T	0.172755304063972	0.18765	T	.	.	.	.	.	.	.	.	.	.	.	-4.633	0.32583	T	.	.	0.133	0.28807	B	.;.;.;.	.;.;.;.	-1.551279	0.00265	0.004	0.59469541163751893	0.06232	0.00075	0.00520	N	AEFDBI	0.026301	0.01950	N	-1.68316153543223	0.00903	0.03908699	-1.84995237698743	0.00612	0.0271986	3.44450744240821E-4	0.06626	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-5.169000	0.00171	.	.	-4.106000	0.00042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2563:0.3734:0.3703:0.0	4.699	0.12201	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	783.55	37	chr19	54804898	.	C	G	783.55	.	AC=6;AF=0.143;AN=42;BaseQRankSum=2.74;DP=2825;ExcessHet=1.7912;FS=7.378;InbreedingCoeff=-0.1525;MLEAC=5;MLEAF=0.119;MQ=58.83;MQRankSum=-1.325e+01;QD=0.63;ReadPosRankSum=3.30;SOR=1.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:288,23:311:99:0|1:54804844_A_G:99,0,12024:54804844	15	0	6	0
chr19	54804909	54804909	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A193G:p.K65E	.	.	408	993	118	3	0	124	0.0587678	.	.	2687379	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.002	B	0.004	B	0.812	N	1.000	N	-2.29	N	6.0	T	-0.932	T	0.001	T	0.074	-2.172	0.005	-1.41	-0.207	0.049	3.979	0.028	0.000710582739585	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433721372	2.738e-06	4.105e-06	0	5.504e-06	2.237e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	2.237e-05	3.843e-05	0	0	0	1.799e-06	0	0	1.988e-05	4.605e-05	1.295e-05	2.717e-05	0.0001	5.29e-06	2.47e-06	2.279e-05	9.14e-06	0	0	0.0001	0	0	0	0	0	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.812499	0.09241	N	0.855387	1	0.08975	N	-2.415	0.00072	N	6.0	0.00603	T	1.89	0.00694	N	0.066	0.07262	-0.9319	0.43859	T	0.001	0.00188	T	10	0.020792723	0.00485	T	7.11E-4	0.00454	T	0.028	0.06331	.	.	0.102598925029	0.09809	0.08210962773506171	0.08145	2.0043789819	0.93871	.	.	.	.	.	.	-0.398459	0.02370	T	-0.810135	0.01662	T	0.0787104400289306	0.09821	T	.	.	.	.	.	.	.	.	.	.	.	1.118	0.00118	T	.	.	0.052	0.01449	B	.;.;.;.	.;.;.;.	-0.896903	0.00931	0.035	0.38092024155450582	0.02549	0.00009	0.00143	N	AEFBI	0.020365	0.00798	N	-1.95943119732616	0.00258	0.01107597	-1.91051840260318	0.00467	0.02066344	2.13546506143977E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.41	0.08473	0.022000	0.13402	.	.	-1.236000	0.01320	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.4688:0.0:0.5312:0.0	3.979	0.08979	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	1459.03	37	chr19	54804909	.	A	G	1459.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=2.63;DP=2839;ExcessHet=1.7912;FS=11.097;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=58.65;MQRankSum=-1.377e+01;QD=1.16;ReadPosRankSum=1.42;SOR=1.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:295,30:325:99:0|1:54804844_A_G:372,0,12297:54804844	15	0	6	0
chr19	54804943	54804943	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G227A:p.R76K	.	.	415	972	132	3	0	138	0.0662824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.003	B	0.590	N	1.000	N	1.44	L	2.74	T	-0.969	T	0.025	T	0.171	-0.507	1.679	-2.83	-0.790	-3.738	0.540	0.022	0.000742101611331	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1258790404	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.948e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.706	0.15201	T	0.895	0.03223	T	0.0	0.02946	B	0.001	0.08700	B	0.590161	0.05587	N	1.384300	1	0.08975	N	1.445	0.36358	L	2.74	0.11730	T	-0.98	0.27259	N	0.051	0.07535	-0.9692	0.37366	T	0.025	0.10733	T	10	0.066293925	0.09070	T	7.42E-4	0.00510	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.10200965388074774	0.10131	1.54987763219	0.87883	.	.	.	.	.	.	-0.328421	0.06231	T	-0.70953	0.05319	T	0.0564412906346426	0.06597	T	.	.	.	.	.	.	.	.	.	.	.	-7.075	0.54580	T	.	.	0.117	0.27968	B	.;.;.;.	.;.;.;.	-0.709399	0.01299	0.070	0.67373079492482224	0.08335	0.00141	0.00861	N	AEFBI	0.044050	0.07041	N	-1.32507690532281	0.03391	0.1513701	-1.48749976679391	0.02446	0.1125302	6.30285219020309E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.506000	0.02375	.	.	-0.368000	0.05462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1859:0.238:0.3354:0.2407	0.540	0.00600	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	2793.02	37	chr19	54804943	.	G	A	2793.02	.	AC=6;AF=0.143;AN=42;BaseQRankSum=1.64;DP=2966;ExcessHet=1.7912;FS=4.369;InbreedingCoeff=-0.1666;MLEAC=6;MLEAF=0.143;MQ=58.46;MQRankSum=-1.419e+01;QD=2.03;ReadPosRankSum=-1.957e+00;SOR=1.396	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:320,48:368:99:0|1:54804844_A_G:1052,0,13292:54804844	15	0	6	0
chr19	54804956	54804956	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C240G:p.N80K	.	.	414	957	149	2	0	153	0.0740203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.005	B	0.011	B	.	.	1.000	N	0.255	N	5.79	T	-0.943	T	0.002	T	0.052	-1.471	0.018	-2.83	-0.914	-2.611	4.378	0.003	0.000820155030123	.	.	3.423e-05	0.0003	0	0	0	0	0	0	.	.	.	rs762567496	6.845e-07	4.789e-06	1.362e-06	0	2.995e-05	0	0	.	.	2.995e-05	0	0	0	0	0	0	0	0	1.99e-05	0.0001	2.59e-05	1.36e-05	7.371e-05	5.29e-06	2.47e-06	1.954e-05	1.042e-05	7.371e-05	0	0	0	0	0	0	0	0	0	0.412	0.13699	T	0.845	0.05146	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.44	0.02835	N	5.79	0.00674	T	-1.03	0.27052	N	0.095	0.07535	-0.9430	0.42137	T	0.002	0.00556	T	9	0.044601202	0.03435	T	8.2E-4	0.00670	T	0.003	0.00094	.	.	0.128874641272	0.12493	0.10159306631719821	0.10090	1.72089044569	0.90581	.	.	.	.	.	.	-0.575811	0.00204	T	-0.864535	0.00796	T	0.016738042965368	0.00430	T	.	.	.	.	.	.	.	.	.	.	.	-3.17	0.12117	T	.	.	0.179	0.45895	B	.;.;.;.	.;.;.;.	-1.083170	0.00661	0.018	0.50719520210572711	0.04434	0.00148	0.00897	N	AEFBI	0.040604	0.06062	N	-1.66740233317036	0.00964	0.04176982	-1.76943638965084	0.00862	0.03853214	7.24329605389925E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-3.415000	0.00532	.	.	-3.993000	0.00048	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2368:0.2927:0.4706:0.0	4.378	0.10712	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	3332.55	37	chr19	54804956	.	C	G	3332.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.553;DP=3253;ExcessHet=2.5830;FS=4.420;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.57;MQRankSum=-1.550e+01;QD=1.97;ReadPosRankSum=-2.461e+00;SOR=1.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:321,48:369:99:0|1:54804844_A_G:1049,0,13334:54804844	14	0	7	0
chr19	54804960	54804960	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T244A:p.F82I	.	.	414	959	147	2	0	151	0.0729821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.988	D	0.749	P	.	.	1.000	N	2.795	M	5.26	T	-1.036	T	0.009	T	0.293	1.165	9.742	-2.83	-1.100	0.423	0.084	0.125	0.00121079333076	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369685826	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.131	0.27663	T	0.066	0.49942	T	0.835	0.57185	P	0.439	0.51840	B	.	.	.	.	1	0.08975	N	2.84	0.82582	M	5.26	0.01121	T	-4.07	0.74661	D	0.527	0.55626	-1.0358	0.18606	T	0.009	0.03140	T	9	0.26590294	0.44090	T	0.001211	0.01583	T	0.125	0.34456	.	.	0.184605227958	0.18053	0.26410585650973184	0.26323	2.55136621799	0.97893	.	.	.	.	.	.	-0.229695	0.16690	T	-0.567717	0.15659	T	0.301442474126816	0.25063	T	.	.	.	.	.	.	.	.	.	.	.	-10.577	0.77288	D	.	.	0.167	0.46813	B	.;.;.;.	.;.;.;.	1.636286	0.20887	14.96	0.92714287306157606	0.22209	0.01840	0.05702	N	AEFBI	0.038078	0.05336	N	-0.973329979841069	0.09176	0.4332079	-1.27610017222819	0.04756	0.2250723	8.7197982285104E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	0.236000	0.17745	.	.	-1.223000	0.01335	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.2444:0.1891:0.2473:0.3192	0.084	0.00031	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	3498.55	37	chr19	54804960	.	T	A	3498.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.890e-01;DP=3264;ExcessHet=2.5830;FS=5.763;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.64;MQRankSum=-1.493e+01;QD=2.04;ReadPosRankSum=-2.172e+00;SOR=1.354	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:320,51:371:99:0|1:54804844_A_G:1178,0,13283:54804844	14	0	7	0
chr19	54804968	54804968	T	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T252G:p.I84M	.	.	417	956	147	2	0	151	0.0731944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.687	P	0.812	P	.	.	1.000	N	-0.13	N	5.18	T	-0.933	T	0.004	T	0.218	-0.371	2.254	-2.83	-2.207	-1.190	4.771	0.045	0.000519273134144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325992067	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.437	0.14400	T	0.374	0.18395	T	0.42	0.35330	B	0.45	0.46092	P	.	.	.	.	1	0.08975	N	-0.585	0.02270	N	5.18	0.01178	T	1.07	0.01509	N	0.251	0.28381	-0.9332	0.43665	T	0.004	0.01435	T	9	0.07691896	0.12074	T	5.19E-4	0.00174	T	0.045	0.12272	.	.	0.117191471859	0.11215	0.08007400719172995	0.07942	1.80411115478	0.91699	.	.	.	.	.	.	-0.337573	0.05559	T	-0.722677	0.04667	T	0.127119965554841	0.15113	T	.	.	.	.	.	.	.	.	.	.	.	-6.241	0.49275	T	.	.	0.117	0.24666	B	.;.;.;.	.;.;.;.	-0.141825	0.03399	0.614	0.65607078407769726	0.07820	0.00065	0.00468	N	AEFBI	0.020411	0.00803	N	-1.5866963148947	0.01332	0.0580352	-1.74726134577514	0.00943	0.042239	1.02835550443145E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.147000	0.03298	.	.	-3.828000	0.00057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1793:0.4034:0.4173	4.771	0.12528	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	3900.55	37	chr19	54804968	.	T	G	3900.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=1.04;DP=3302;ExcessHet=2.5830;FS=5.736;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.65;MQRankSum=-1.402e+01;QD=2.23;ReadPosRankSum=-2.200e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:325,54:379:99:0|1:54804844_A_G:1283,0,13463:54804844	14	0	7	0
chr19	54804969	54804969	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A253G:p.S85G	.	.	417	954	149	2	0	153	0.0742358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.004	B	.	.	1.000	N	-1.605	N	2.6	T	-0.984	T	0.007	T	0.077	-2.734	0	-2.83	-1.548	-0.075	7.112	0.027	0.000781134784742	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442335978	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.715	0.00343	N	2.6	0.13204	T	2.66	0.00310	N	0.108	0.09349	-0.9842	0.34022	T	0.007	0.02439	T	9	0.02619794	0.00792	T	7.81E-4	0.00588	T	0.027	0.05988	.	.	0.158540857583	0.15491	0.07738362904380575	0.07674	1.4201359302	0.85604	.	.	.	.	.	.	-0.401399	0.02267	T	-0.814358	0.01570	T	0.0549007298840621	0.06341	T	.	.	.	.	.	.	.	.	.	.	.	0.541	0.00210	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	-0.420405	0.02138	0.205	0.22000706786361646	0.00865	0.00040	0.00335	N	AEFBI	0.020537	0.00821	N	-2.07894454137503	0.00142	0.006092453	-2.08140116520627	0.00204	0.009005726	2.05305321022085E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.375000	0.07532	.	.	-1.077000	0.01579	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4285:0.0:0.5715:0.0	7.112	0.24570	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	3886.55	37	chr19	54804969	.	A	G	3886.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-3.400e-01;DP=3301;ExcessHet=2.5830;FS=5.736;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.65;MQRankSum=-1.405e+01;QD=2.23;ReadPosRankSum=-2.321e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:325,53:378:99:0|1:54804844_A_G:1241,0,13460:54804844	14	0	7	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S	.	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.008	B	.	.	1.000	N	-1.335	N	5.92	T	-0.965	T	0.001	T	0.053	-2.647	0	-2.83	-1.271	-4.121	6.440	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	8919.01	37	chr19	54805015	.	T	C	8919.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.270e-01;DP=3894;ExcessHet=4.7172;FS=2.661;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=59.09;MQRankSum=-1.185e+01;QD=3.49;ReadPosRankSum=0.485;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:300,92:392:99:.:.:2923,0,8307	12	0	9	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L	.	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.542	P	0.333	B	.	.	1.000	N	1.725	L	5.83	T	-0.970	T	0.003	T	0.121	1.105	9.508	-2.7	-0.974	-0.428	2.255	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	8818.01	37	chr19	54805016	.	T	A	8818.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-7.130e-01;DP=3903;ExcessHet=4.7172;FS=3.895;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=59.09;MQRankSum=-1.197e+01;QD=3.42;ReadPosRankSum=0.322;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:312,90:402:99:0|1:54805010_A_G:2840,0,12828:54805010	12	0	9	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R	.	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.025	B	0.014	B	0.900	U	1.000	N	1.445	L	5.78	T	-0.926	T	0.003	T	0.132	0.330	5.790	-0.942	-0.378	-0.780	4.279	0.022	0.00119188927627	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs796878779	3.426e-06	0.0002	4.09e-06	2.756e-06	1.8e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.683e-05	0	1.8e-06	0	0	4.7e-05	0.0029	5.246e-05	4.127e-05	0.0002	2.151e-05	1.554e-05	1.981e-05	1.049e-05	7.471e-05	0	6.676e-05	0	0	0	0	2.979e-05	0	0.0002	0.057	0.37966	T	0.101	0.38596	T	0.009	0.15093	B	0.006	0.12133	B	0.900041	0.07350	U	1.083630	1	0.08975	N	1.245	0.31408	L	5.78	0.00681	T	-5.95	0.89152	D	0.045	0.09066	-0.9256	0.44772	T	0.003	0.00994	T	10	0.102012426	0.18672	T	0.001192	0.01533	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.03833865634309133	0.03779	1.81219128519	0.91816	.	.	.	.	.	.	-0.350096	0.04721	T	-0.740665	0.03863	T	0.0647783944973474	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	-4.915	0.35903	T	.	.	0.097	0.17060	B	.;.;.;.	.;.;.;.	-0.151121	0.03348	0.592	0.69629908088386028	0.09034	0.00308	0.01632	N	AEFDBI	0.034642	0.04326	N	-1.13086835408799	0.06101	0.2799287	-1.26988241760385	0.04843	0.2294386	2.01186922009763E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-0.942	0.09869	-3.960000	0.00366	.	.	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5371:0.0:0.4629:0.0	4.279	0.10270	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2381	10370.19	37	chr19	54805024	.	A	G	10370.19	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-4.070e-01;DP=4027;ExcessHet=6.1002;FS=3.749;InbreedingCoeff=-0.2989;MLEAC=9;MLEAF=0.214;MQ=59.11;MQRankSum=-1.124e+01;QD=3.60;ReadPosRankSum=0.390;SOR=1.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:308,102:410:99:0|1:54805010_A_G:3315,0,12597:54805010	11	0	10	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I	.	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.004	B	0.005	B	0.591	U	1.000	N	1.77	L	2.55	T	-0.987	T	0.033	T	0.099	-0.227	2.901	-2.28	-1.442	-2.050	6.335	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	11569.11	37	chr19	54805033	.	C	T	11569.11	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.870e-01;DP=4523;ExcessHet=9.6308;FS=5.420;InbreedingCoeff=-0.4114;MLEAC=12;MLEAF=0.286;MQ=59.15;MQRankSum=-1.246e+01;QD=3.36;ReadPosRankSum=-4.370e-01;SOR=1.113	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:295,108:403:99:0|1:54805010_A_G:3517,0,11836:54805010	9	0	12	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V	.	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.011	B	0.009	B	0.168	N	1.000	N	0.08	N	2.74	T	-1.017	T	0.015	T	0.072	-2.393	0.003	-0.275	-0.112	-0.220	3.173	0.014	0.000896150500463	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs377158496	7.372e-05	0.0003	4.11e-05	0.0001	0.0004	6.225e-05	5.782e-05	6.542e-05	6.1e-05	0	0	3.935e-05	7.58e-05	0.0001	0.0004	7.939e-05	8.332e-05	3.521e-05	1.994e-05	0.0009	1.3e-05	2.72e-05	0.0004	5.3e-06	2.47e-06	7.542e-05	3.122e-05	0	0	0	0	0	9.517e-05	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.167963	0.03088	N	2.088310	1	0.08975	N	-0.475	0.02701	N	2.74	0.11730	T	0.19	0.06868	N	0.074	0.06587	-1.0167	0.24787	T	0.015	0.06282	T	10	0.027635008	0.00906	T	8.96E-4	0.00822	T	0.014	0.01968	.	.	0.143184338766	0.13958	0.03977817011760987	0.03923	1.56059685374	0.88033	.	.	.	.	.	.	-0.414852	0.01846	T	-0.833683	0.01198	T	0.0837077051401138	0.10455	T	.	.	.	.	.	.	.	.	.	.	.	-1.865	0.02998	T	.	.	0.077	0.08899	B	.;.;.;.	.;.;.;.	-0.512683	0.01826	0.145	0.81087781055770536	0.13513	0.00133	0.00820	N	AEFDBI	0.025271	0.01704	N	-1.41486537055219	0.02508	0.1108357	-1.45837055724275	0.02695	0.1244398	1.6772618897357E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-0.275	0.12268	-1.056000	0.03600	.	.	-1.196000	0.01368	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6062:0.0:0.3938:0.0	3.173	0.06167	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3421	12807.67	37	chr19	54805068	.	A	G	12807.67	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.640e+00;DP=4275;ExcessHet=11.8493;FS=4.752;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.368;MQ=58.95;MQRankSum=-1.149e+01;QD=3.70;ReadPosRankSum=0.620;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:263,113:376:99:0|1:54805068_A_G:3822,0,10144:54805068	6	0	13	2
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78	.	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	28945.47	292	chr19	54806075	.	A	AGG	28945.47	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-5.960e-01;DP=7796;ExcessHet=14.4320;FS=3.507;InbreedingCoeff=-0.5273;MLEAC=14;MLEAF=0.350;MQ=57.86;MQRankSum=-1.730e+01;QD=4.78;ReadPosRankSum=2.42;SOR=0.985	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:431,134:565:99:0|1:54806075_A_AGG:4329,0,17694:54806075	6	0	14	1
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P	.	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.024	B	0.044	B	.	.	1.000	N	0.83	L	5.72	T	-0.892	T	0.002	T	0.193	-1.464	0.019	-1.46	-2.181	-4.220	0.244	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	29384.38	292	chr19	54806086	.	T	C	29384.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-1.199e+00;DP=7767;ExcessHet=17.4423;FS=4.575;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.83;MQRankSum=-1.735e+01;QD=4.51;ReadPosRankSum=0.065;SOR=1.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:432,140:572:99:0|1:54806075_A_AGG:4578,0,17718:54806075	6	0	15	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V	.	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.000	N	1.000	N	-1.53	N	2.72	T	-0.970	T	0.008	T	0.063	-3.538	0.001	-0.854	-3.514	-0.448	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	24913.38	292	chr19	54806109	.	A	G	24913.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-1.236e+00;DP=7520;ExcessHet=17.4423;FS=7.542;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=58.03;MQRankSum=-1.656e+01;QD=3.98;ReadPosRankSum=-3.141e+00;SOR=1.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:413,121:534:99:0|1:54806075_A_AGG:3838,0,16978:54806075	6	0	15	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D	.	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.012	B	0.024	B	0.006	U	1.000	N	0.765	N	2.53	T	-0.990	T	0.026	T	0.033	-0.167	3.186	-0.795	-0.445	-1.162	.	0.015	0.00143953544246	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs796888355	6.845e-07	4.105e-06	1.362e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.337	0.18178	T	0.002	0.09854	B	0.007	0.12992	B	0.005772	0.01094	U	5.332710	1	0.08975	N	0.345	0.11182	N	2.53	0.14038	T	-2.93	0.61865	D	0.138	0.13626	-0.9903	0.32525	T	0.026	0.11220	T	9	0.087477654	0.14971	T	0.00144	0.02164	T	0.015	0.02232	.	.	0.220282294035	0.21616	0.006777662489737481	0.00644	1.71896696176	0.90540	.	.	.	.	.	.	-0.416589	0.01799	T	-0.836177	0.01158	T	0.0856821440474374	0.10698	T	.	.	.	.	.	.	.	.	.	.	.	-7.374	0.57236	T	.	.	0.120	0.29060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.412746	0.07838	4.531	0.79727465880553572	0.12873	0.00046	0.00367	N	AEFDBI	0.025639	0.01789	N	-1.25407888021563	0.04246	0.1912621	-1.39176687369686	0.03339	0.1555523	1.44639492226876E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.795	0.10364	-0.556000	0.06082	.	.	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	9512.01	292	chr19	54806112	.	A	G	9512.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.490e-01;DP=7263;ExcessHet=4.7172;FS=5.109;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=57.76;MQRankSum=-1.587e+01;QD=2.63;ReadPosRankSum=-2.764e+00;SOR=1.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:407,112:519:99:0|1:54806075_A_AGG:3478,0,16753:54806075	12	0	9	0
chr19	54806161	54806161	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A572G:p.E191G	.	.	416	1062	43	1	0	45	0.0207469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.001	B	0.197	U	1.000	N	-3.25	N	6.83	T	-0.852	T	0.000	T	0.138	-2.560	0.003	-0.418	-0.115	0.169	3.278	0.125	0.00319016254727	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482608476	1.369e-06	2.805e-05	0	2.752e-06	1.164e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	0	1.164e-05	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.197140	0.03293	U	2.244820	1	0.08975	N	-2.95	0.00016	N	6.83	0.00484	T	4.86	0.00044	N	0.172	0.19190	-0.8522	0.51816	T	0.000	0.00075	T	10	0.030806363	0.01209	T	0.00319	0.06996	T	0.125	0.34456	.	.	0.0675242888579	0.06100	0.08634734685735217	0.08568	1.74118563909	0.90866	.	.	.	.	.	.	-0.3614	0.04051	T	-0.756902	0.03225	T	0.0659469353070313	0.08069	T	.	.	.	.	.	.	.	.	.	.	.	1.576	0.00090	T	.	.	0.029	0.00020	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.208131	0.03048	0.471	0.28823449377494542	0.01499	0.00008	0.00134	N	AEFDBI	0.016221	0.00352	N	-2.10568283398864	0.00124	0.005325665	-2.01989730429939	0.00278	0.01226669	1.20238691917371E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.418	0.11728	0.692000	0.25161	.	.	-0.573000	0.04775	0.027000	0.20232	0.000000	0.08366	0.003000	0.05239	0.3266:0.0:0.6734:0.0	3.278	0.06497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	2204.92	292	chr19	54806161	.	A	G	2204.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.62;DP=3999;ExcessHet=0.6776;FS=20.520;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=58.03;MQRankSum=-1.615e+01;QD=1.78;ReadPosRankSum=2.51;SOR=3.014	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:348,38:386:99:0|1:54806075_A_AGG:548,0,14498:54806075	17	0	4	0
chr19	54806170	54806170	G	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G581C:p.R194T	.	.	417	1070	33	1	1	36	0.016092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.985	D	0.907	P	0.909	N	1.000	N	2.545	M	2.92	T	-1.056	T	0.069	T	0.505	1.229	9.983	0.728	0.685	1.181	4.805	0.086	0.00167460938054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs903729815	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.607e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.068	0.35726	T	0.014	0.62352	D	0.843	0.60733	P	0.609	0.61644	P	0.908863	0.07403	N	1.076150	1	0.08975	N	2.435	0.70606	M	2.92	0.09915	T	-4.66	0.79482	D	0.251	0.41656	-1.0562	0.12724	T	0.069	0.28247	T	10	0.32319447	0.49660	T	0.001675	0.02753	T	0.086	0.25016	.	.	0.341886373756	0.33793	0.0825432362972079	0.08189	3.18632837919	0.99467	.	.	.	.	.	.	-0.182359	0.23386	T	-0.499722	0.22376	T	0.762926518917084	0.44021	D	.	.	.	.	.	.	.	.	.	.	.	-7.108	0.64010	T	.	.	0.181	0.51583	B	.;.;.;.;.;.	.;.;.;.;.;.	1.917375	0.24354	16.36	0.92977417747853819	0.22558	0.01550	0.05082	N	AEFDBI	0.044415	0.07142	N	-0.40202933579575	0.25397	1.378405	-0.700629391342907	0.16944	0.8987731	1.66932649274431E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	0.728	0.17411	0.730000	0.25711	.	.	-1.575000	0.00928	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.805	0.12681	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	2129.92	292	chr19	54806170	.	G	C	2129.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=5.00;DP=3969;ExcessHet=0.6776;FS=18.149;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=58.04;MQRankSum=-1.605e+01;QD=1.76;ReadPosRankSum=1.36;SOR=2.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:342,35:377:99:0|1:54806075_A_AGG:440,0,14255:54806075	17	0	4	0
chr19	54806178	54806178	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G589A:p.G197S	.	.	416	1100	5	1	0	7	0.00317173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.998	D	0.868	P	0.093	U	1.000	N	1.46	L	2.58	T	-1.073	T	0.044	T	0.339	1.951	12.48	-0.474	-0.122	-0.059	3.151	0.059	.	.	0.00399361	0.0068	0.05	0	0	.	0	0	0	0.0003234	50	154602	rs562937136	0.0007	0.0007	0.0007	0.0006	0.0229	0.0007	0.0006	0.0216	0.0210	0.0229	0.0010	0	0	0	0.0023	5.847e-05	0.0014	0.0004	0.0061	0.0061	0.0064	0.0058	0.0214	0.0057	0.0056	0.0203	0.0198	0.0214	0	0.0013	0	0	0	0.0068	0.0001	0.0043	0.0009	0.028	0.46129	D	0.063	0.45110	T	0.981	0.60036	D	0.611	0.51118	P	0.093193	0.20236	U	0.246155	1	0.08975	N	1.84	0.48285	L	2.58	0.13434	T	-5.08	0.84457	D	0.261	0.29544	-1.0726	0.08851	T	0.044	0.18742	T	10	0.0045753717	0.00095	T	.	.	.	0.059	0.16972	.	.	0.328504224676	0.32467	0.06988589293301634	0.06926	2.68827321764	0.98538	.	.	.	.	.	.	-0.580043	0.00192	T	-0.582971	0.14280	T	0.0881467788318275	0.10995	T	.	.	.	.	.	.	.	.	.	.	.	-6.097	0.50340	T	.	.	0.213	0.55665	B	.;.;.;.;.;.	.;.;.;.;.;.	1.579481	0.20215	14.64	0.98519973530265537	0.42447	0.00237	0.01320	N	AEFDBI	0.040798	0.06117	N	-0.646128351039815	0.17573	0.9054126	-0.934422807103989	0.11285	0.573984	1.21157652715662E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.474	0.11504	-0.555000	0.06089	.	.	0.348000	0.19902	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3456:0.0:0.6544:0.0	3.151	0.06099	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	557.1	292	chr19	54806178	.	G	A	557.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=6.72;DP=3939;ExcessHet=0.1072;FS=13.716;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.71;MQRankSum=-1.030e+01;QD=0.93;ReadPosRankSum=-3.120e-01;SOR=2.105	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:351,38:389:99:0|1:54806075_A_AGG:539,0,14624:54806075	19	0	2	0
chr19	54806184	54806184	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T595C:p.F199L	.	.	418	1073	30	1	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.254	B	0.094	B	0.006	N	1.000	N	1.09	L	5.85	T	-0.922	T	0.003	T	0.373	0.435	6.361	-0.617	-0.296	-2.050	2.752	0.052	0.00128745751053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169726842	0	1.095e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	5.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.191	0.21066	T	0.247	0.26066	T	0.043	0.21573	B	0.027	0.21085	B	0.005759	0.01093	N	5.479650	1	0.08975	N	0.64	0.16041	N	5.85	0.00643	T	-3.62	0.69593	D	0.061	0.03502	-0.9217	0.45320	T	0.003	0.00929	T	10	0.099934906	0.18167	T	0.001287	0.01784	T	0.052	0.14661	.	.	0.290620346082	0.28682	0.02907533590376118	0.02856	2.04366087562	0.94286	.	.	.	.	.	.	-0.26258	0.12600	T	-0.614955	0.11585	T	0.0610753484070301	0.07336	T	.	.	.	.	.	.	.	.	.	.	.	-6.709	0.51878	T	.	.	0.675	0.82233	P	.;.;.;.;.;.	.;.;.;.;.;.	-0.166739	0.03264	0.556	0.74081094485100063	0.10563	0.00161	0.00961	N	AEFBI	0.035128	0.04469	N	-1.23634316811277	0.04483	0.2024168	-1.37910423948924	0.03475	0.1621945	1.81584576774125E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.617	0.10999	-2.589000	0.00974	.	.	-3.015000	0.00138	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4179:0.0:0.0:0.5821	2.752	0.04959	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	2620.92	292	chr19	54806184	.	T	C	2620.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=4.05;DP=3954;ExcessHet=0.6776;FS=11.646;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=57.87;MQRankSum=-1.562e+01;QD=2.19;ReadPosRankSum=-1.234e+00;SOR=2.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:344,40:384:99:0|1:54806075_A_AGG:644,0,14324:54806075	17	0	4	0
chr19	54806191	54806191	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G602A:p.G201E	.	.	417	1081	23	1	0	25	0.0114312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.047	B	0.024	B	0.001	N	1.000	N	-0.69	N	5.77	T	-0.841	T	0.002	T	0.074	-3.080	0.001	-1.46	-4.112	-4.698	3.815	0.009	0.000933240469926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751766410	2.739e-06	1.779e-05	2.725e-06	2.753e-06	6.004e-05	6.4e-07	4.3e-07	9.94e-06	3.72e-06	6.004e-05	0	0	0	0	0	0	0	2.329e-05	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.989	0.03205	T	0.007	0.14184	B	0.017	0.18140	B	0.000834	0.00693	N	25.857100	1	0.08975	N	0.385	0.12166	N	5.77	0.00687	T	-0.11	0.09796	N	0.067	0.12198	-0.8412	0.52567	T	0.002	0.00526	T	10	0.035131097	0.01749	T	9.33E-4	0.00911	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.014322109949426428	0.01389	1.91097436102	0.92909	.	.	.	.	.	.	-0.406241	0.02106	T	-0.821313	0.01426	T	0.152467426749554	0.17299	T	.	.	.	.	.	.	.	.	.	.	.	-5.575	0.45358	T	.	.	0.110	0.31330	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.356574	0.00045	0.001	0.63035751494400261	0.07118	0.00046	0.00367	N	AEFBI	0.026834	0.02083	N	-2.40257893415306	0.00027	0.001151865	-2.47848935217197	0.00026	0.001144284	0.126168324027902	0.16994	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-5.953000	0.00107	.	.	-2.820000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3698:0.2864:0.3438:0.0	3.815	0.08326	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	2659.92	292	chr19	54806191	.	G	A	2659.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.46;DP=3941;ExcessHet=0.6776;FS=11.535;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=57.88;MQRankSum=-1.562e+01;QD=2.25;ReadPosRankSum=-2.584e+00;SOR=1.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:338,42:380:99:0|1:54806075_A_AGG:746,0,14066:54806075	17	0	4	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S	.	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.006	B	0.003	B	0.046	U	1.000	N	0.13	N	7.15	T	-0.925	T	0.001	T	0.11	-1.679	0.012	-1.7	-1.068	-0.084	2.159	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	25713.48	41	chr19	54808838	.	C	T	25713.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=3.86;DP=5771;ExcessHet=14.4320;FS=0.714;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.82;MQRankSum=-1.875e+01;QD=4.71;ReadPosRankSum=0.460;SOR=0.848	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:377,84:461:99:0|1:54808838_C_T:2392,0,15531:54808838	7	0	14	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5	.	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	28348.44	41	chr19	54808850	.	TGG	T	28348.44	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.40;DP=6077;ExcessHet=14.4320;FS=0.703;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.95;MQRankSum=-1.810e+01;QD=4.95;ReadPosRankSum=0.095;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:389,80:471:99:.:.:2152,0,16507	7	0	14	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15	.	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	28654.44	41	chr19	54808853	.	C	CAT	28654.44	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.62;DP=6070;ExcessHet=14.4320;FS=0.703;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.95;MQRankSum=-1.810e+01;QD=5.01;ReadPosRankSum=-1.110e-01;SOR=0.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:401,80:481:99:0|1:54808838_C_T:2152,0,16556:54808838	7	0	14	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S	.	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	0.491	U	1.000	N	-1.24	N	7.38	T	-0.982	T	0.000	T	0.081	-2.864	0	-1.7	-0.659	-3.350	3.991	0.009	0.000447511138945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465997687	1.376e-06	1.368e-06	1.37e-06	1.382e-06	6.075e-05	2.3e-07	9e-08	1.006e-05	3.76e-06	6.075e-05	0	0	0	0	0	0	0	0	1.993e-05	1.974e-05	1.297e-05	2.724e-05	7.415e-05	5.3e-06	2.47e-06	1.966e-05	1.045e-05	7.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.506	0.10967	T	0.0	0.07471	B	0.002	0.06944	B	0.491149	0.05037	U	1.930170	1	0.08975	N	-1.515	0.00494	N	7.25	0.00433	T	2.25	0.00307	N	0.14	0.13911	-0.9819	0.34561	T	0.000	0.00152	T	10	0.028942287	0.01023	T	4.48E-4	0.00107	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.02708054647761313	0.02658	2.35642927456	0.96844	.	.	.	.	.	.	-0.409861	0.01992	T	-0.826513	0.01325	T	0.0655447216952588	0.08011	T	.	.	.	.	.	.	.	.	.	.	.	-0.475	0.00568	T	.	.	0.070	0.03887	B	.;.;.;.	.;.;.;.	-0.295392	0.02636	0.333	0.47455017389395787	0.03881	0.00276	0.01495	N	AEFBCI	0.026542	0.02011	N	-2.02046759288525	0.00191	0.008189703	-2.03483107511558	0.00258	0.01138985	2.16622587642089E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-2.798000	0.00832	.	.	-2.007000	0.00444	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.4355:0.0:0.5645	3.991	0.09026	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	29056.48	41	chr19	54808875	.	T	C	29056.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=0.156;DP=6159;ExcessHet=14.4320;FS=1.502;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=58.16;MQRankSum=-1.759e+01;QD=5.05;ReadPosRankSum=-6.680e-01;SOR=0.766	GT:AD:DP:GQ:PL	0/1:396,74:470:99:1920,0,10971	7	0	14	0
chr19	54830166	54830166	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1226C:p.R409T	.	.	489	977	43	13	0	69	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.017	B	0.016	B	.	.	1.000	N	1.91	M	7.22	T	-0.957	T	0.001	T	0.113	-0.230	2.891	-1.44	-0.785	-0.866	.	0.014	0.00280289760826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402897436	0	6.612e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.13e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.09	0.63226	T	0.404	0.21545	T	0.008	0.14655	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	2.205	0.62170	M	7.22	0.00442	T	-2.14	0.48523	N	0.155	0.19861	-0.9566	0.39807	T	0.001	0.00438	T	8	0.05749756	0.06613	T	0.002803	0.05840	T	0.014	0.01968	0.257	0.19845	0.0611884634855	0.05136	0.14103244144494176	0.14026	0.341241828603	0.36058	.	.	.	0.005761	0.05208	T	-0.327897	0.06272	T	-0.708778	0.05358	T	0.0654255235430696	0.07993	T	.	.	.	0.077683635	0.17647	0.09936527	0.23722	0.077683635	0.17647	0.09936527	0.23722	-8.799	0.66394	D	.	.	0.112	0.22573	B	.;.;.	.;.;.	-0.127859	0.03478	0.649	0.55859222650876794	0.05430	0.00622	0.02746	N	AEFBI	0.041929	0.06440	N	-1.14611797788255	0.05843	0.2674817	-1.32606166375958	0.04096	0.1925055	3.25109135686022E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	-1.44	0.08391	-0.857000	0.04394	.	.	0.254000	0.18348	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	3117.3	35	chr19	54830166	.	G	C	3117.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-4.161e+00;DP=4417;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.67;MQRankSum=-1.789e+01;QD=1.56;ReadPosRankSum=-1.700e-02;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:310,49:359:99:0|1:54830134_C_T:1124,0,12869:54830134	14	0	6	1
chr19	54830177	54830177	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1237T:p.R413C	.	.	487	975	47	13	0	73	0.036085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.016	B	0.004	B	.	.	1.000	N	1.505	L	7.16	T	-0.972	T	0.001	T	0.117	-0.254	2.778	0.569	0.567	0.678	.	0.019	0.00205586965996	.	0.000199681	2.628e-05	0.0002	9.156e-05	0	0	0	0	0	3.84e-05	1	26028	rs573252093	1.446e-05	8.441e-05	1.723e-05	1.165e-05	0.0002	9.44e-06	7.68e-06	4.146e-05	2.416e-05	0.0001	9.576e-05	0	0	0	0.0002	7.555e-06	1.754e-05	2.641e-05	4.289e-05	0.0001	5.533e-05	2.959e-05	0.0002	1.84e-05	1.211e-05	6.588e-05	4.499e-05	0.0002	0	0	0	0	0	0	0	0	0	0.116	0.49117	T	0.123	0.35970	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.15	0.00445	T	-2.1	0.47852	N	0.103	0.14196	-0.9722	0.36734	T	0.001	0.00408	T	8	0.05926463	0.07096	T	0.002056	0.03748	T	0.019	0.03383	.	.	0.124217242631	0.12060	0.14280557230036842	0.14203	0.306309179821	0.32927	.	.	.	0.004918	0.04343	T	-0.530801	0.00380	T	-0.694259	0.06145	T	0.0218732288632759	0.00894	T	.	.	.	0.11626438	0.27425	0.10402554	0.24975	0.11626438	0.27425	0.10402554	0.24975	-8.101	0.62445	D	.	.	0.106	0.21541	B	.;.;.	.;.;.	1.217707	0.16111	12.33	0.46755602533799501	0.03769	0.01115	0.04074	N	AEFBI	0.054109	0.09809	N	-1.01848295800702	0.08221	0.384663	-1.15555151539374	0.06668	0.3217553	2.10729526415108E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	0.650000	0.24544	.	.	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	3228.3	35	chr19	54830177	.	C	T	3228.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.737e+00;DP=4472;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.63;MQRankSum=-1.794e+01;QD=1.57;ReadPosRankSum=1.91;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:328,52:380:99:0|1:54830134_C_T:1196,0,13616:54830134	14	0	6	1
chr19	54830178	54830178	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1238C:p.R413P	.	.	488	973	48	13	0	74	0.0366337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.003	B	.	.	1.000	N	0.605	N	7.24	T	-0.908	T	0.001	T	0.094	-2.412	0.003	-1.14	-1.579	-0.469	.	0.016	0.00338705456639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs984592565	2.892e-06	0.0003	0	5.825e-06	1.321e-05	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	0	1.321e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.075	0.38407	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.215	0.09537	N	7.23	0.00430	T	-0.45	0.24676	N	0.05	0.04072	-0.9082	0.47073	T	0.001	0.00255	T	8	0.05937442	0.07126	T	0.003387	0.07603	T	0.016	0.02506	0.366	0.37361	0.0401082797425	0.02173	0.09140339593159023	0.09073	0.323214894628	0.34489	.	.	.	0.001071	0.00595	T	-0.371148	0.03536	T	-0.770905	0.02738	T	0.0905973222850487	0.11288	T	.	.	.	0.09353458	0.21971	0.14968953	0.35334	0.09353458	0.21970	0.14968953	0.35333	-5.275	0.49736	T	.	.	0.093	0.14797	B	.;.;.	.;.;.	-0.439146	0.02071	0.191	0.43628759508592302	0.03298	0.00008	0.00134	N	AEFBI	0.019406	0.00671	N	-1.59627941012569	0.01283	0.05585422	-1.71860603525739	0.01058	0.04746591	9.63160874456533E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.14	0.09241	-0.491000	0.06555	.	.	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	3252.3	35	chr19	54830178	.	G	C	3252.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.995e+00;DP=4479;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.62;MQRankSum=-1.808e+01;QD=1.58;ReadPosRankSum=2.10;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:329,52:381:99:0|1:54830134_C_T:1193,0,13658:54830134	14	0	6	1
chr19	54830217	54830217	T	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1277C:p.I426T	.	.	490	959	60	13	0	86	0.0429142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.002	B	0.007	B	.	.	1.000	N	0.895	L	7.02	T	-0.948	T	0.001	T	0.085	-3.212	0.001	-0.727	-0.235	-0.860	.	0.031	0.00252436282351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199822561	1.447e-06	6.26e-05	1.437e-06	1.458e-06	1.89e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.89e-06	0	0	0	8.482e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.053	0.38863	T	0.707	0.18732	T	0.001	0.07471	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.51	0.38214	L	7.01	0.00465	T	1.33	0.01107	N	0.136	0.15469	-0.9482	0.41279	T	0.001	0.00378	T	8	0.053025752	0.05429	T	0.002524	0.05037	T	0.031	0.07369	0.329	0.31357	0.0138822411134	0.00435	0.05436384389562955	0.05378	0.2842650222	0.30852	.	.	.	0.00346	0.02869	T	-0.377913	0.03211	T	-0.780622	0.02435	T	0.109476455881908	0.13368	T	.	.	.	0.060243543	0.12340	0.12511967	0.30151	0.060243543	0.12340	0.12511967	0.30150	-2.004	0.06104	T	.	.	0.127	0.34160	B	.;.;.	.;.;.	-0.422644	0.02129	0.203	0.1578796069653349	0.00399	0.00213	0.01210	N	AEFBI	0.035053	0.04446	N	-1.5374920893244	0.01609	0.07032718	-1.65054767699224	0.01373	0.06202174	1.82473746354949E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-0.727	0.10603	-0.855000	0.04403	.	.	-2.187000	0.00360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	3351.3	35	chr19	54830217	.	T	C	3351.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.492e+00;DP=4457;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.63;MQRankSum=-1.828e+01;QD=1.65;ReadPosRankSum=4.76;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:327,53:380:99:0|1:54830134_C_T:1241,0,13571:54830134	14	0	6	1
chr19	54830219	54830219	T	A	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1279A:p.L427M	.	.	490	958	61	13	0	87	0.0434348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.015	B	0.004	B	.	.	1.000	N	0.05	N	7.16	T	-0.949	T	0.001	T	0.116	-0.161	3.214	0.569	-0.221	-0.021	.	0.033	0.00220836784564	.	.	1.752e-05	0	0	0	0	3.156e-05	0	0	1.29e-05	2	154602	rs200821495	2.17e-06	0.0009	0	4.372e-06	9.449e-07	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.449e-07	3.512e-05	0	7.376e-06	0.0005	1.429e-05	0	1.625e-05	0	0	.	.	0	0	0	0	0	0	0	1.625e-05	0	0	0.036	0.43708	D	0.044	0.49942	D	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	7.15	0.00440	T	0.02	0.07155	N	0.097	0.09066	-0.9488	0.41177	T	0.001	0.00255	T	8	0.059903473	0.07273	T	0.002208	0.04178	T	0.033	0.08068	0.343	0.33626	0.0611884634855	0.05136	0.06365489919836881	0.06304	0.217370059748	0.24259	.	.	.	0.001032	0.00564	T	-0.359885	0.04136	T	-0.754727	0.03305	T	0.0475029693969738	0.05054	T	.	.	.	0.12672478	0.29674	0.09114859	0.21413	0.12672478	0.29673	0.09114859	0.21413	-2.726	0.11147	T	.	.	0.087	0.11027	B	.;.;.	.;.;.	-0.079285	0.03768	0.787	0.57251924956472933	0.05728	0.00098	0.00638	N	AEFBI	0.020111	0.00761	N	-1.48858900803104	0.01930	0.08470691	-1.56128690325375	0.01899	0.08661785	1.77709840166136E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	-0.346000	0.07809	.	.	-2.056000	0.00415	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	3297.3	35	chr19	54830219	.	T	A	3297.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.982e+00;DP=4460;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.66;MQRankSum=-1.825e+01;QD=1.62;ReadPosRankSum=4.19;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:328,53:381:99:0|1:54830134_C_T:1238,0,13613:54830134	14	0	6	1
chr19	54830226	54830226	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1286T:p.T429M	.	.	491	956	62	13	0	88	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.226	B	0.042	B	.	.	1.000	N	0.66	N	7.16	T	-0.970	T	0.001	T	0.116	-0.776	0.741	-1.01	-0.398	-1.561	.	0.003	0.00266394809513	7.9e-05	.	4.38e-05	0.0004	0	0	0	1.578e-05	0	0	7.12e-05	11	154602	rs72629105	2.892e-06	0.0008	1.435e-06	4.369e-06	2.833e-06	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	1.754e-05	0	2.894e-05	0.0005	4.202e-05	1.496e-05	7.701e-05	9.76e-06	5.56e-06	2.041e-05	1.066e-05	7.701e-05	0	0	0	0	0	0	1.605e-05	0	0	0.054	0.52492	T	0.299	0.22359	T	0.122	0.26746	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	0.95	0.23787	L	7.16	0.00445	T	0.53	0.04022	N	0.061	0.03726	-0.9699	0.37220	T	0.001	0.00287	T	8	0.04146093	0.02803	T	0.002664	0.05434	T	0.003	0.00094	.	.	0.0482279557977	0.04254	0.1972985884992638	0.19646	0.240531653146	0.26595	.	.	.	0.001518	0.00960	T	-0.551009	0.00288	T	-0.749827	0.03492	T	0.0218708623688418	0.00894	T	.	.	.	0.024346609	0.01257	0.069218	0.14554	0.024346609	0.01257	0.069218	0.14554	-2.712	0.13893	T	.	.	0.079	0.09385	B	.;.;.	.;.;.	-0.578230	0.01633	0.113	0.60277366403116528	0.06425	0.00031	0.00285	N	AEFBI	0.021009	0.00889	N	-1.21141140468678	0.04833	0.218967	-1.35673268790221	0.03727	0.1744511	2.06319095939035E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.01	0.09650	-1.643000	0.02106	.	.	-2.138000	0.00378	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	3090.3	35	chr19	54830226	.	C	T	3090.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.236e+00;DP=4472;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.69;MQRankSum=-1.825e+01;QD=1.51;ReadPosRankSum=2.95;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:335,52:387:99:0|1:54830134_C_T:1175,0,13910:54830134	14	0	6	1
chr19	54830253	54830253	C	-	exonic	KIR3DL1	.	frameshift deletion	KIR3DL1:NM_001322168:exon9:c.1313delC:p.S438Ffs*6	.	.	484	969	56	13	0	82	0.0405941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.228e-07	4.922e-05	0	1.456e-06	9.442e-07	0	0	.	.	0	0	0	0	0	0	9.442e-07	0	0	0	4.801e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2796.99	35	chr19	54830252	.	TC	T	2796.99	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-2.582e+00;DP=4357;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=58.62;MQRankSum=-1.642e+01;QD=1.45;ReadPosRankSum=-1.343e+00;SOR=0.700	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:338,48:386:99:0|1:54830134_C_T:998,0,14048:54830134	15	0	6	0
chr19	54830256	54830258	AAG	-	exonic	KIR3DL1	.	nonframeshift deletion	KIR3DL1:NM_001322168:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*	.	.	491	962	56	13	0	82	0.0408774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.446e-06	4.922e-05	1.435e-06	1.456e-06	1.888e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.888e-06	0	0	0	4.808e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2545.27	35	chr19	54830255	.	AAAG	A	2545.27	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-1.717e+00;DP=4318;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.64;MQRankSum=-1.636e+01;QD=1.34;ReadPosRankSum=-1.346e+00;SOR=0.725	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:332,46:378:99:0|1:54830134_C_T:932,0,13802:54830134	14	0	6	1
chr19	54835088	54835088	T	G	exonic	KIR2DS4	.	nonsynonymous SNV	KIR2DS4:NM_001281971:exon2:c.T44G:p.L15W	.	.	436	1020	60	6	0	72	0.0340909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	.	0.0015	0.0006	0.0005	0.0002	0.0020	0.0021	0.0035	0.0009	0.0008452	22	26028	rs200101952	0.0004	0.0030	0.0003	0.0005	0.0017	0.0003	0.0003	0.0014	0.0013	9.206e-05	0.0007	0.0004	0.0004	0.0011	0.0002	0.0002	0.0002	0.0017	0.0004	0.0042	0.0004	0.0004	0.0008	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0002	0.0006	0.0002	0.0006	0	0.0005	0.0021	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	1657.68	38	chr19	54835088	.	T	G	1657.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.53;DP=2038;ExcessHet=0.3300;FS=2.369;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=56.00;MQRankSum=-7.490e+00;QD=5.23;ReadPosRankSum=-1.724e+00;SOR=0.841	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:126,32:158:99:.:.:845,0,3252	18	0	3	0
chr19	54847203	54847203	T	0	exonic	KIR2DS1;KIR2DS2;KIR2DS3;KIR2DS4;KIR2DS5;KIR3DS1;LOC102725023;LOC112268355	.	.	.	.	.	377	455	672	5	13	695	0.428392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	15952.71	34	chr19	54847203	.	T	C,*	15952.71	.	AC=11,6;AF=0.262,0.143;AN=42;BaseQRankSum=-1.075e+00;DP=8145;ExcessHet=25.1139;FS=1.133;InbreedingCoeff=-0.6800;MLEAC=11,6;MLEAF=0.262,0.143;MQ=59.51;MQRankSum=-4.222e+00;QD=2.08;ReadPosRankSum=-1.400e-01;SOR=0.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:364,230,105:699:99:.:.:4901,0,11385,2242,8302,20581	4	0	11	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F	.	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.957	D	0.987	U	1.000	N	1.885	L	5.76	T	-0.914	T	0.007	T	0.13	2.147	13.14	-0.254	-0.134	-1.675	3.712	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	20296.38	88	chr19	54855625	.	A	T	20296.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-8.030e-01;DP=5048;ExcessHet=17.4423;FS=6.158;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.76;MQRankSum=-1.439e+01;QD=4.26;ReadPosRankSum=0.340;SOR=0.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:325,126:451:99:0|1:54855608_TCTC_T:4312,0,13267:54855608	6	0	15	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G	.	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.999	D	0.99	D	0.407	U	1.000	N	0.715	N	5.81	T	-0.864	T	0.005	T	0.109	0.702	7.744	0.993	0.705	-1.951	4.242	0.018	0.0011106169865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985925024	6.844e-07	2.052e-06	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.118	0.28148	T	0.271	0.22291	T	0.999	0.77913	D	0.99	0.78936	D	0.407241	0.04570	U	1.688890	1	0.08975	N	0.38	0.12130	N	5.81	0.00662	T	-1.77	0.41809	N	0.087	0.10769	-0.8640	0.50973	T	0.005	0.01833	T	10	0.0910846	0.15926	T	0.001111	0.01336	T	0.018	0.03083	0.409	0.44395	0.184867976434	0.18130	0.04741152337579393	0.04684	1.9288275753	0.93111	0.312949419022	0.12353	T	0.061579	0.31691	T	-0.358922	0.04191	T	-0.753343	0.03358	T	0.0479596368968487	0.05137	T	.	.	.	0.038775276	0.05231	0.055304885	0.09676	0.038775276	0.05230	0.055304885	0.09675	-4.68	0.36840	T	.	.	0.068	0.03552	B	.;.	.;.	0.681116	0.10498	7.211	0.93748499984386979	0.23687	0.00095	0.00623	N	AEFBI	0.022196	0.01079	N	-0.906883655702748	0.10679	0.5115434	-1.03393035090106	0.09045	0.4478514	2.60640366773723E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.810000	0.04612	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	4.242	0.10106	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	19524.38	88	chr19	54855628	.	A	G	19524.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.458e+00;DP=5081;ExcessHet=17.4423;FS=6.361;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.81;MQRankSum=-1.448e+01;QD=4.07;ReadPosRankSum=0.351;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:328,125:453:99:0|1:54855608_TCTC_T:4261,0,13372:54855608	6	0	15	0
chr19	54855667	54855668	AG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_001242867:exon5:c.704_705del:p.Q235Rfs*10	.	.	415	977	130	0	0	130	0.06238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3948.51	88	chr19	54855666	.	CAG	C	3948.51	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-2.013e+00;DP=3294;ExcessHet=2.5830;FS=18.051;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.18;MQRankSum=-1.766e+01;QD=1.78;ReadPosRankSum=-6.440e-01;SOR=1.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:369,63:432:99:0|1:54855666_CAG_C:1531,0,15215:54855666	14	0	7	0
chr19	54855669	54855669	-	CA	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_001242867:exon5:c.706_707insCA:p.G237Qfs*5	.	.	418	973	131	0	0	131	0.0630717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3954.51	88	chr19	54855669	.	G	GCA	3954.51	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.566;DP=3235;ExcessHet=2.5830;FS=18.051;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.30;MQRankSum=-1.766e+01;QD=1.78;ReadPosRankSum=-9.070e-01;SOR=1.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:369,63:432:99:0|1:54855666_CAG_C:1531,0,15215:54855666	14	0	7	0
chr19	54855702	54855702	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.T739A:p.W247R	.	.	418	1096	7	0	1	8	0.00318327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.005	B	0.007	N	1.000	N	-0.98	N	4.12	T	-0.955	T	0.004	T	0.036	-2.621	0	-1.99	-2.052	-2.481	4.218	0.006	0.000513965063079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.844e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.23	0.25827	T	0.0	0.02946	B	0.002	0.06944	B	0.007305	0.01163	N	6.284920	1	0.08975	N	-0.905	0.01334	N	4.12	0.02891	T	2.77	0.00192	N	0.074	0.05287	-0.9554	0.40024	T	0.004	0.01159	T	10	0.0278669	0.00925	T	5.14E-4	0.00163	T	0.006	0.00375	0.383	0.40134	0.148003135375	0.14442	0.03313264070354783	0.03261	2.56269628182	0.97972	0.291219711304	0.09100	T	0.013561	0.11709	T	-0.45857	0.01003	T	-0.896481	0.00528	T	0.0652051243997332	0.07961	T	.	.	.	0.038792573	0.05237	0.03620834	0.03021	0.038792573	0.05237	0.03620834	0.03021	-1.24	0.01520	T	.	.	0.056	0.00444	B	.;.	.;.	-1.017771	0.00746	0.023	0.28703814929394555	0.01487	0.00064	0.00463	N	AEFBI	0.018163	0.00530	N	-2.08547964821295	0.00138	0.005896707	-2.12188863542438	0.00167	0.007337207	3.705165035272E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-1.99	0.07047	-2.672000	0.00915	.	.	-3.099000	0.00124	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4704:0.3018:0.2278	4.218	0.09998	982	0.03397	Immunoglobulin|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	218.98	88	chr19	54855702	.	T	A	218.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.15;DP=2054;ExcessHet=0.0000;FS=44.293;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.70;MQRankSum=-6.161e+00;QD=0.57;ReadPosRankSum=-1.677e+00;SOR=5.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:354,31:385:99:0|1:54855695_T_C:233,0,14734:54855695	20	0	1	0
chr19	54859084	54859084	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.C955T:p.P319S,	.	.	416	1029	76	1	0	78	0.0365169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.964	D	0.599	P	.	.	1.000	N	0.95	L	7.02	T	-0.867	T	0.001	T	0.044	-0.290	2.614	-0.604	-0.204	0.241	2.974	0.064	0.000624441967726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.026e-05	1.231e-05	4.085e-06	1.651e-05	1.259e-05	6.16e-06	4.89e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	0	6.572e-06	2.625e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.089	0.32141	T	0.425	0.13912	T	0.886	0.48745	P	0.383	0.43945	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	7.02	0.00454	T	-2.97	0.61865	D	0.064	0.03613	-0.8674	0.50724	T	0.001	0.00467	T	9	0.09483707	0.16894	T	6.24E-4	0.00303	T	0.064	0.18567	0.248	0.18447	0.117506650769	0.11410	0.04836548424617068	0.04779	1.71135710155	0.90445	0.356161952019	0.18825	T	0.059672	0.31178	T	-0.393334	0.02559	T	-0.802774	0.01834	T	0.34234310394307	0.26717	T	.	.	.	0.039089512	0.05330	0.078269705	0.17516	0.039089512	0.05330	0.078269705	0.17516	-2.822	0.08388	T	.	.	0.088	0.11606	B	.	.	0.788312	0.11583	8.178	0.84617625941685071	0.15397	0.00022	0.00232	N	AEFGBI	0.014378	0.00226	N	-0.746472741392689	0.14729	0.7361992	-0.985325967743381	0.10114	0.5073769	0.00905559668788433	0.11788	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-0.604	0.11043	-0.027000	0.12319	.	.	-0.464000	0.05108	0.037000	0.20830	0.000000	0.08366	0.012000	0.09680	0.0:0.3552:0.0:0.6448	2.974	0.05570	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	1957.92	34	chr19	54859084	.	C	T	1957.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.106e+00;DP=2332;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=44.36;MQRankSum=-6.845e+00;QD=1.26;ReadPosRankSum=-1.042e+00;SOR=0.662	GT:AD:DP:GQ:PL	0/1:335,32:367:99:339,0,8665	17	0	4	0
chr19	54859097	54859098	GG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_006737:exon6:c.968_969del:p.W323Sfs*62,	.	.	418	1027	76	1	0	78	0.0365854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1875.88	34	chr19	54859096	.	TGG	T	1875.88	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.373e+00;DP=2349;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=43.43;MQRankSum=-6.131e+00;QD=1.19;ReadPosRankSum=0.420;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:342,32:374:99:0|1:54859096_TGG_T:314,0,14175:54859096	17	0	4	0
chr19	54859099	54859099	-	AT	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_006737:exon6:c.970_971insAT:p.P324Hfs*20,	.	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1875.88	34	chr19	54859099	.	C	CAT	1875.88	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.465e+00;DP=2344;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=43.29;MQRankSum=-6.131e+00;QD=1.19;ReadPosRankSum=0.484;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:342,32:374:99:0|1:54859096_TGG_T:314,0,14175:54859096	17	0	4	0
chr19	54859126	54859126	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.T997A:p.S333T,	.	.	422	1024	75	1	0	77	0.0362353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.011	B	.	.	1.000	N	-1.22	N	7.11	T	-0.954	T	0.000	T	0.046	-3.410	0.001	-1.7	-2.276	-2.170	0.066	0.058	0.000592853644405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.969e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.952	0.02603	T	0.002	0.09854	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.145	0.00921	N	7.11	0.00444	T	1.51	0.00728	N	0.047	0.01911	-0.9540	0.40274	T	0.000	0.00114	T	9	0.020475209	0.00472	T	5.93E-4	0.00260	T	0.058	0.16647	0.251	0.18912	0.0482279557977	0.04254	0.03848246725599166	0.03794	1.5778815892	0.88350	0.446997404099	0.31534	T	0.001513	0.00960	T	-0.446873	0.01178	T	-0.879678	0.00656	T	0.0579299394948747	0.06839	T	.	.	.	0.035080478	0.04062	0.03344365	0.02239	0.035080478	0.04062	0.03344365	0.02239	-2.536	0.06032	T	.	.	0.060	0.00949	B	.	.	-0.849207	0.01014	0.042	0.38981453092339813	0.02662	0.00032	0.00291	N	AEFGBI	0.016009	0.00335	N	-2.17322769998613	0.00088	0.003762631	-2.19645317612939	0.00114	0.005011955	0.249042233931105	0.18659	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-1.7	0.07721	-2.450000	0.01084	.	.	-2.250000	0.00337	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2879:0.2416:0.223:0.2475	0.066	0.00016	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	1568.68	34	chr19	54859126	.	T	A	1568.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.635e+00;DP=2070;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=42.42;MQRankSum=-4.951e+00;QD=1.50;ReadPosRankSum=4.95;SOR=0.682	GT:AD:DP:GQ:PL	0/1:313,29:342:99:281,0,8443	18	0	3	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R	.	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	.	.	1.000	N	-0.69	N	7.32	T	-0.976	T	0.001	T	0.094	-0.882	0.475	-0.763	-1.126	-1.523	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	31702.71	90	chr19	54865810	.	T	C	31702.71	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.293e+00;DP=3755;ExcessHet=14.4320;FS=1.258;InbreedingCoeff=-0.5016;MLEAC=14;MLEAF=0.333;MQ=58.31;MQRankSum=-9.487e+00;QD=9.30;ReadPosRankSum=1.76;SOR=0.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:215,116:331:99:0|1:54865794_T_C:4224,0,8679:54865794	7	0	14	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I	.	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.259	B	0.269	B	.	.	1.000	N	0.7	N	7.31	T	-0.975	T	0.001	T	0.028	-1.590	0.014	-1.58	-0.698	-0.374	3.986	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.35	30212.51	90	chr19	54865825	.	G	A	30212.51	.	AC=14;AF=0.350;AN=40;BaseQRankSum=0.417;DP=3951;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5273;MLEAC=14;MLEAF=0.350;MQ=58.36;MQRankSum=-1.018e+01;QD=8.39;ReadPosRankSum=2.06;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:237,114:351:99:0|1:54865794_T_C:4073,0,9608:54865794	6	0	14	1
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A	.	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.988	D	0.985	D	0.029	N	1.000	N	0.125	N	7.27	T	-0.917	T	0.002	T	0.051	-1.319	0.034	-1.58	-1.598	-0.458	5.878	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	31525.16	90	chr19	54865847	.	T	C	31525.16	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.74;DP=3983;ExcessHet=14.4320;FS=0.597;InbreedingCoeff=-0.5108;MLEAC=14;MLEAF=0.333;MQ=58.27;MQRankSum=-1.006e+01;QD=8.70;ReadPosRankSum=0.977;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:241,118:359:99:0|1:54865794_T_C:4229,0,9764:54865794	7	0	14	0
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I	.	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.521	N	1.000	N	-2.6	N	7.41	T	-0.951	T	0.000	T	0.186	-2.169	0.005	-0.556	-1.246	-2.075	1.833	0.025	0.000552976428505	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs2915986	3.52e-06	3.467e-06	4.204e-06	2.829e-06	3.699e-06	1.03e-06	7.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.699e-06	1.7e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.520826	0.11743	N	0.610798	1	0.08975	N	-2.095	0.00157	N	7.34	0.00418	T	2.41	0.00335	N	0.177	0.19055	-0.9514	0.40730	T	0.000	0.00075	T	10	0.028288513	0.00963	T	5.53E-4	0.00208	T	0.025	0.05312	0.361	0.36548	0.0401082797425	0.02173	0.037563278247634765	0.03702	0.00194719441549	0.00165	0.439581662416	0.30520	T	0.002307	0.01700	T	-0.359524	0.04156	T	-0.754208	0.03325	T	0.102266789170519	0.12604	T	.	.	.	0.029341966	0.02414	0.027775709	0.00957	0.029341966	0.02413	0.027775709	0.00957	1.774	0.00144	T	.	.	0.031	0.00001	B	.;.	.;.	-1.192069	0.00539	0.013	0.21394745277116367	0.00813	0.00027	0.00265	N	AEFBI	0.015044	0.00268	N	-2.17185589876208	0.00089	0.003788383	-2.12745077528888	0.00162	0.00713515	4.11374997373906E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.556	0.11213	-3.473000	0.00511	.	.	-1.423000	0.01123	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3789:0.3119:0.0:0.3092	1.833	0.02945	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	28126.08	90	chr19	54865852	.	T	A	28126.08	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.146e+00;DP=3964;ExcessHet=11.8493;FS=0.602;InbreedingCoeff=-0.4757;MLEAC=13;MLEAF=0.325;MQ=58.29;MQRankSum=-1.050e+01;QD=8.38;ReadPosRankSum=0.494;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:241,120:361:99:0|1:54865794_T_C:4313,0,9758:54865794	7	0	13	1
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I	.	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.01	B	0.021	B	0.026	N	1.000	N	-0.145	N	7.01	T	-0.867	T	0.001	T	0.124	-3.306	0.001	-1.51	-3.388	-1.355	6.404	0.013	0.000772956067362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296399738	8.417e-06	0.0011	1.256e-05	4.23e-06	7.065e-05	4.49e-06	3.55e-06	1.874e-05	1.019e-05	0	7.065e-05	0	0	1.911e-05	0	3.683e-06	0	4.841e-05	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	1.0	0.01155	T	0.01	0.15535	B	0.009	0.14300	B	0.025651	0.01634	N	972.142000	1	0.08975	N	-0.22	0.03977	N	6.79	0.00488	T	1.13	0.01297	N	0.193	0.21188	-0.8671	0.50746	T	0.001	0.00287	T	10	0.037043363	0.02035	T	7.73E-4	0.00568	T	0.013	0.01715	0.474	0.55020	0.0551355673512	0.04727	0.03483597995631442	0.03430	0.00231030591297	0.00198	0.440028011799	0.30580	T	0.003421	0.02829	T	-0.38056	0.03091	T	-0.784425	0.02323	T	0.24141052365303	0.22484	T	.	.	.	0.02956708	0.02474	0.027299805	0.00872	0.02956708	0.02473	0.027299805	0.00872	-2.832	0.08482	T	.	.	0.067	0.02428	B	.;.	.;.	-1.733188	0.00181	0.003	0.39800349715696198	0.02769	0.00031	0.00285	N	AEFBI	0.015044	0.00268	N	-2.51786959481438	0.00014	0.0006260781	-2.5670260733213	0.00016	0.0007120855	0.00421926217040744	0.10461	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.756	-1.51	0.08207	-0.986000	0.03857	.	.	-4.822000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.5469:0.0:0.0	6.404	0.20859	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	26881.91	90	chr19	54865864	.	C	A	26881.91	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.450e-01;DP=3884;ExcessHet=11.8493;FS=0.608;InbreedingCoeff=-0.4745;MLEAC=13;MLEAF=0.325;MQ=58.33;MQRankSum=-9.748e+00;QD=8.20;ReadPosRankSum=-7.570e-01;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:239,116:355:99:0|1:54865794_T_C:4151,0,9686:54865794	7	0	13	1
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F	.	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.999	D	0.997	D	0.959	U	1.000	N	1.445	L	6.74	T	-0.940	T	0.004	T	0.25	0.087	4.467	-1.58	-0.826	-0.444	2.405	0.046	0.000653011748056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338748485	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.05152	T	0.137	0.33894	T	0.999	0.77913	D	0.993	0.81110	D	0.959071	0.07705	U	1.034180	1	0.08975	N	1.67	0.42885	L	6.68	0.00576	T	-0.57	0.19297	N	0.144	0.15888	-0.9404	0.42552	T	0.004	0.01470	T	10	0.067382395	0.09379	T	6.53E-4	0.00350	T	0.046	0.12618	0.447	0.50629	0.0482279557977	0.04254	0.03706772757247262	0.03653	0.00235242544378	0.00204	0.419023424387	0.27702	T	0.010928	0.09812	T	-0.282597	0.10395	T	-0.643707	0.09401	T	0.149730133327665	0.17082	T	.	.	.	0.029493352	0.02453	0.034858517	0.02630	0.029493352	0.02453	0.034858517	0.02630	-4.814	0.34754	T	.	.	0.092	0.13362	B	.;.	.;.	0.692112	0.10608	7.311	0.86832300325457512	0.16803	0.00214	0.01215	N	AEFBI	0.025492	0.01754	N	-1.08763022436649	0.06870	0.3175028	-1.36423289139558	0.03641	0.1702588	3.46547822766471E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.403000	0.07275	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.414:0.3227:0.2634	2.405	0.04140	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	26642.8	90	chr19	54865870	.	C	T	26642.8	.	AC=13;AF=0.325;AN=40;BaseQRankSum=1.75;DP=3832;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.325;MQ=58.31;MQRankSum=-9.500e+00;QD=8.27;ReadPosRankSum=-1.440e+00;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:228,114:342:99:0|1:54865794_T_C:4101,0,9231:54865794	7	0	13	1
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H	.	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.008	B	0.001	N	1.000	N	-2.525	N	7.27	T	-0.904	T	0.000	T	0.061	-2.893	0.001	-0.356	-0.649	-0.514	4.953	0.052	0.000928668473944	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2915987	4.899e-06	0.0012	8.359e-06	1.406e-06	6.971e-05	2.04e-06	1.31e-06	1.849e-05	1.012e-05	0	6.971e-05	0	2.532e-05	0	0	1.838e-06	0	1.202e-05	6.588e-06	7.887e-05	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.001	0.07471	B	0.004	0.10090	B	0.000834	0.00693	N	964.490000	1	0.08975	N	-1.885	0.00247	N	7.23	0.00430	T	2.95	0.00151	N	0.108	0.11054	-0.9038	0.47583	T	0.000	0.00114	T	10	0.02607575	0.00783	T	9.29E-4	0.00911	T	0.052	0.14661	0.509	0.60540	0.0806252709748	0.07271	0.05856973815727529	0.05797	0.00203136714976	0.00170	0.461200088263	0.33475	T	0.002548	0.01934	T	-0.543293	0.00320	T	-0.842333	0.01064	T	0.055993546621464	0.06523	T	.	.	.	0.01972407	0.00509	0.030124722	0.01429	0.01972407	0.00508	0.030124722	0.01428	-0.36	0.01497	T	.	.	0.058	0.01810	B	.;.	.;.	-1.085193	0.00658	0.018	0.29891803236966757	0.01608	0.00013	0.00170	N	AEFBI	0.013335	0.00174	N	-2.32571740057804	0.00040	0.001704577	-2.25685884815932	0.00083	0.003659575	2.27817266838019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.356	0.11957	-0.520000	0.06338	.	.	-3.331000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7076:0.0:0.2924	4.953	0.13373	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	23642.28	90	chr19	54865885	.	T	C	23642.28	.	AC=13;AF=0.325;AN=40;BaseQRankSum=3.17;DP=3617;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4940;MLEAC=14;MLEAF=0.350;MQ=58.28;MQRankSum=-9.078e+00;QD=7.87;ReadPosRankSum=-1.919e+00;SOR=0.730	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:206,99:305:99:.:.:3537,0,7599	7	0	13	1
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C	.	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.997	D	0.003	U	1.000	N	1.9	L	7.01	T	-0.926	T	0.005	T	0.315	0.191	5.027	0.792	0.706	-0.531	4.875	0.076	0.00070768877162	.	.	8.387e-06	0	0	0	0	1.53e-05	0	0	1.29e-05	2	154602	rs138402445	1.848e-05	1.847e-05	1.635e-05	2.064e-05	2.988e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.988e-05	0	0	0	1.881e-05	0	2.159e-05	1.656e-05	0	6.58e-06	6.569e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.50676	D	0.045	0.49390	D	0.998	0.73220	D	0.724	0.55036	P	0.003128	0.00941	U	719.913000	1	0.08975	N	2.18	0.61292	M	7.01	0.00466	T	-3.01	0.62518	D	0.177	0.25253	-0.9256	0.44772	T	0.005	0.01506	T	10	0.2351507	0.40570	T	7.08E-4	0.00454	T	0.076	0.22200	0.608	0.74063	0.377274123778	0.37341	0.04899285126321561	0.04842	0.00201032243671	0.00170	0.345741182566	0.17292	T	0.083108	0.36978	T	-0.280145	0.10652	T	-0.57654	0.14856	T	0.0767469108104706	0.09565	T	.	.	.	0.090401374	0.21151	0.072761305	0.15734	0.090401374	0.21151	0.072761305	0.15734	-5.468	0.41568	T	.	.	0.101	0.17488	B	.;.	.;.	1.700358	0.21659	15.29	0.78131642950480018	0.12168	0.00252	0.01388	N	AEFBI	0.036619	0.04908	N	-0.596483761697517	0.19051	0.9940639	-0.847282888163348	0.13353	0.6922374	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	-0.462000	0.06781	.	.	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	22402.2	90	chr19	54865888	.	C	T	22402.2	.	AC=13;AF=0.325;AN=40;BaseQRankSum=2.84;DP=3561;ExcessHet=11.8493;FS=0.626;InbreedingCoeff=-0.4886;MLEAC=14;MLEAF=0.350;MQ=58.25;MQRankSum=-9.209e+00;QD=7.57;ReadPosRankSum=-1.902e+00;SOR=0.753	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,90:297:99:0|1:54865794_T_C:3153,0,8376:54865794	7	0	13	1
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C	.	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.005	U	1.000	N	2.56	M	7.16	T	-0.938	T	0.005	T	0.423	0.755	7.999	0.792	0.706	0.774	4.875	0.087	0.000545132984031	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs150217832	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.055	0.48080	T	0.999	0.77913	D	0.995	0.83170	D	0.004823	0.01046	U	6.630260	0.999999	0.08975	N	2.65	0.77586	M	7.12	0.00449	T	-8.3	0.96976	D	0.417	0.45709	-0.9378	0.42963	T	0.005	0.01578	T	10	0.46326482	0.59415	T	5.45E-4	0.00196	T	0.087	0.25287	0.69	0.82748	0.115124310173	0.11017	0.06623851051609898	0.06562	0.0020945074082	0.00176	0.531311154366	0.43219	T	0.117344	0.43737	T	-0.156731	0.27265	T	-0.46291	0.26281	T	0.919087171554565	0.57763	D	.	.	.	0.27311128	0.50379	0.25889528	0.51629	0.27311128	0.50379	0.25889528	0.51629	-5.179	0.48189	T	.	.	0.297	0.52760	B	.;.	.;.	1.876161	0.23830	16.17	0.96792341091729295	0.31116	0.02255	0.06527	N	AEFBI	0.039311	0.05691	N	-0.326071486107245	0.28160	1.550996	-0.608238508299626	0.19282	1.03379	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	0.848000	0.27362	.	.	0.413000	0.20698	0.222000	0.24557	0.000000	0.08366	0.017000	0.10941	0.0:0.0:1.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	21734.24	90	chr19	54865893	.	G	C	21734.24	.	AC=13;AF=0.325;AN=40;BaseQRankSum=2.60;DP=3482;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4768;MLEAC=13;MLEAF=0.325;MQ=58.20;MQRankSum=-8.978e+00;QD=7.60;ReadPosRankSum=-2.084e+00;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,85:278:99:0|1:54865794_T_C:2985,0,7783:54865794	7	0	13	1
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E	.	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	.	.	1.000	N	-1.735	N	7.23	T	-0.988	T	0.000	T	0.038	-2.832	0	-1.86	-0.450	0.343	6.644	0.019	0.000487258690266	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs973541788	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.08	0.01032	N	7.15	0.00440	T	1.42	0.00936	N	0.047	0.01911	-0.9881	0.33077	T	0.000	0.00114	T	9	0.028343678	0.00967	T	4.87E-4	0.00143	T	0.019	0.03383	0.432	0.48171	0.139678290688	0.13603	0.030255114197267258	0.02974	0.00231557063093	0.00198	0.46007502079	0.33320	T	0.001004	0.00540	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.0475666406958597	0.05065	T	.	.	.	0.048541624	0.08476	0.04803189	0.07048	0.048541624	0.08476	0.04803189	0.07048	-3.597	0.17813	T	.	.	0.049	0.00120	B	.;.	.;.	-0.208194	0.03048	0.471	0.46700175483676853	0.03761	0.00016	0.00195	N	AEFBI	0.016061	0.00339	N	-1.82336724726666	0.00490	0.02110744	-1.81317678004361	0.00718	0.0319862	2.83414617026636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-1.86	0.07340	0.363000	0.20037	.	.	-0.318000	0.05900	0.220000	0.24536	0.000000	0.08366	0.002000	0.04165	0.0:0.5951:0.4049:0.0	6.644	0.22116	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	15435.48	140	chr19	54866420	.	C	G	15435.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-3.889e+00;DP=4431;ExcessHet=14.4320;FS=9.928;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=58.11;MQRankSum=-1.691e+01;QD=3.94;ReadPosRankSum=1.08;SOR=0.395	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,117:370:99:0|1:54866416_T_C:4111,0,10190:54866416	7	0	14	0
chr19	54866533	54866533	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon8:c.A1119T:p.E373D	.	.	420	1022	80	0	0	80	0.0376648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.993	D	0.99	D	.	.	1.000	N	1.81	L	7.17	T	-0.887	T	0.003	T	0.119	0.708	7.775	-2.23	-0.191	0.244	3.962	0.049	0.000605757839165	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372092512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.432	0.13634	T	0.989	0.62824	D	0.977	0.73820	D	.	.	.	.	1	0.08975	N	1.455	0.36767	L	7.15	0.00448	T	-1.33	0.33197	N	0.032	0.07535	-0.8872	0.49172	T	0.003	0.00832	T	9	0.09381515	0.16631	T	6.06E-4	0.00274	T	0.049	0.13647	0.278	0.23164	0.309530620856	0.30565	0.04776419956839925	0.04719	0.00263683917289	0.00224	0.397166699171	0.24675	T	0.009012	0.08229	T	-0.310709	0.07687	T	-0.684088	0.06738	T	0.0624436335153859	0.07548	T	.	.	.	0.069478154	0.15226	0.052691333	0.08732	0.069478154	0.15226	0.052691333	0.08731	-5.991	0.46204	T	.	.	0.123	0.25914	B	.;.	.;.	1.370321	0.17801	13.38	0.9555976710174543	0.27236	0.00357	0.01833	N	AEFBI	0.023672	0.01352	N	-0.665085175571445	0.17022	0.8724157	-0.948421509682792	0.10960	0.5553993	3.55301781292242E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.4	-2.23	0.06539	0.255000	0.18102	.	.	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3911:0.0:0.0:0.6089	3.962	0.08909	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	1160.99	140	chr19	54866533	.	A	T	1160.99	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.052;DP=5436;ExcessHet=0.6776;FS=29.613;InbreedingCoeff=-0.1067;MLEAC=4;MLEAF=0.095;MQ=58.36;MQRankSum=-2.122e+01;QD=0.61;ReadPosRankSum=0.502;SOR=2.870	GT:AD:DP:GQ:PL	0/1:491,52:543:99:462,0,13856	17	0	4	0
chr19	55147136	55147136	C	T	exonic	TNNT1	.	nonsynonymous SNV	TNNT1:NM_001126132:exon2:c.G22A:p.E8K	Nemaline myopathy 5, Amish type, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.225	B	0.027	B	0.020	U	1.000	N	1.79	L	-5.01	D	1.095	D	0.937	D	0.28	2.313	13.69	2.35	1.635	3.461	8.343	0.393	0.939601450512	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1365700594	1.368e-06	1.368e-06	0	2.751e-06	2.322e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.322e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.22486	T	0.192	0.41742	T	0.149	0.27956	B	0.025	0.20508	B	0.020116	0.27110	U	0.214283	0.777644	0.81001	D	2.045	0.56016	M	-5.01	0.99655	D	-1.27	0.38924	N	0.225	0.30004	1.095	0.99426	D	0.937	0.97917	D	10	0.32627964	0.49927	T	0.939601	0.99571	D	0.393	0.70844	0.143	0.04650	0.964754289087	0.96437	0.5039820874095481	0.50320	0.640471696717	0.57678	0.856557011604	0.90600	D	0.339901	0.70899	T	0.0366361	0.56602	T	-0.0845213	0.64572	T	0.217163278813298	0.21321	T	0.780822	0.41560	T	0.19600143	0.41410	0.2482322	0.50369	0.19600143	0.41410	0.2482322	0.50368	-9.046	0.67993	D	.	.	0.216	0.55978	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.924831	0.81138	27.5	0.99027486525665864	0.50721	0.78143	0.38510	D	ALL	0.315432	0.42000	N	-0.170345081912801	0.34374	1.961159	-0.112099137607638	0.34901	2.012922	0.999999999999807	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.52208	0.10781	0	0.63947	0.58350	0	.	.	2.35	2.35	0.28166	1.840000	0.38871	3.479000	0.38635	0.563000	0.28513	0.977000	0.34929	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	8.343	0.31420	988	0.01987	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1662.98	38	chr19	55147136	.	C	T	1662.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.339;DP=883;ExcessHet=0.0000;FS=1.382;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=0.776;SOR=0.836	GT:AD:DP:GQ:PL	0/1:63,68:131:99:1677,0,1523	20	0	1	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1402.14	99	chr19	55358524	.	C	*,T	1402.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2198;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.80;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,76,0:76:99:.:.:3380,236,0,3380,236,3380	0	18	2	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1530.14	99	chr19	55358535	.	T	*,C	1530.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2199;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.88;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,76,0:76:99:.:.:3380,236,0,3380,236,3380	0	18	2	0
chr19	56026952	56026952	T	A	exonic	NLRP5	.	nonsynonymous SNV	NLRP5:NM_153447:exon7:c.T719A:p.M240K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.313	N	1.000	N	0.805	L	-0.46	T	-0.995	T	0.126	T	0.233	-1.066	0.177	2.39	0.654	-0.182	5.877	0.131	0.00829455149745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.978	0.02017	T	0.002	0.79402	D	0.001	0.07471	B	0.001	0.04355	B	0.313398	0.14394	N	0.579052	1	0.08975	N	0.46	0.12951	N	-0.46	0.70014	T	-0.24	0.10833	N	0.248	0.31590	-0.9951	0.31272	T	0.126	0.43132	T	10	0.05839303	0.06858	T	0.008295	0.21954	T	0.131	0.35738	0.553	0.66995	0.201204373187	0.19734	0.4412532351946989	0.44042	0.0260266214271	0.02658	0.335711359978	0.15795	T	0.027469	0.20108	T	-0.174575	0.24545	T	-0.488542	0.23544	T	0.0359822534601765	0.02978	T	0.457954	0.13172	T	0.26821107	0.49894	0.23757492	0.49059	0.26821107	0.49893	0.23757492	0.49058	-3.292	0.13634	T	.	.	0.187	0.40360	B	.;.	.;.	0.637697	0.10061	6.811	0.83678618374337721	0.14859	0.02962	0.07799	N	AEFDBHI	0.022864	0.01197	N	-1.11247875373205	0.06419	0.2954732	-1.11968700936832	0.07325	0.3558346	3.04809162647605E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.45	2.39	0.28492	0.030000	0.13576	-0.064000	0.12386	0.651000	0.53179	0.009000	0.18154	0.000000	0.08366	0.085000	0.17524	0.2341:0.0:0.0:0.7659	5.877	0.18082	969	0.06854	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1215.98	35	chr19	56026952	.	T	A	1215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.03;DP=828;ExcessHet=0.0000;FS=4.215;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-8.390e-01;SOR=1.204	GT:AD:DP:GQ:PL	0/1:54,43:97:99:1230,0,1535	20	0	1	0
chr19	56816136	56816136	T	C	exonic	PEG3	.	nonsynonymous SNV	PEG3:NM_001369735:exon8:c.A1841G:p.Y614C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.001	B	0.001	B	0.475	N	.	.	1.775	L	4.2	T	-0.978	T	0.009	T	0.126	0.559	7.023	-7.92	-3.189	-2.568	0.924	0.019	0.00163101390998	.	0.000599042	0.0001	0	8.637e-05	0	0	0	0	0.0009	0.0001358	21	154602	rs574516590	5.885e-05	5.883e-05	2.451e-05	9.354e-05	0.0009	4.878e-05	4.498e-05	0.0007	0.0007	0	2.239e-05	0	2.519e-05	0	0	4.497e-06	6.626e-05	0.0009	3.939e-05	3.937e-05	3.855e-05	4.027e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.106	0.29688	T	0.186	0.29056	T	0.001	0.07471	B	0.001	0.04355	B	0.475245	0.04949	N	1.344690	.	.	.	1.2	0.30300	L	4.2	0.03149	T	-5.02	0.82511	D	0.134	0.13055	-0.9778	0.35503	T	0.009	0.03054	T	9	0.0148252845	0.00311	T	0.001631	0.02651	T	0.019	0.03383	0.439	0.49321	0.398872588132	0.39498	.	.	0.0542466573256	0.05997	0.204875051975	0.00612	T	0.452394	0.79274	T	-0.637428	0.00086	T	-0.765103	0.02932	T	0.0434442252654952	0.04319	T	0.686231	0.29475	T	0.06799706	0.14775	0.13428387	0.32180	0.06799706	0.14774	0.13428387	0.32180	-3.67	0.18876	T	.	.	0.066	0.02428	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	-1.334702	0.00410	0.008	0.57419032091287581	0.05765	0.03705	0.08987	N	AEFBHCI	0.106261	0.21206	N	-1.57336610226077	0.01403	0.06116809	-1.75765381970896	0.00905	0.04046489	0.999331067256246	0.39185	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.96	-7.92	0.01027	-1.727000	0.01959	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.107000	0.18608	0.2745:0.3221:0.1925:0.2109	0.924	0.01237	976	0.04745	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2817.98	38	chr19	56816136	.	T	C	2817.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=970;ExcessHet=0.0000;FS=1.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=-1.000e+00;SOR=0.594	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,109:229:99:1|0:56816135_A_G:2832,0,4683:56816135	20	0	1	0
chr19	56817223	56817223	G	C	exonic	PEG3	.	nonsynonymous SNV	PEG3:NM_001369735:exon8:c.C754G:p.Q252E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.435	B	0.078	B	0.066	N	.	.	0.805	L	4.21	T	-0.903	T	0.008	T	0.155	0.393	6.136	4.25	2.659	1.762	14.970	0.036	0.00458229931987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.23721	T	0.965	0.02516	T	0.231	0.30614	B	0.054	0.25828	B	0.065941	0.21845	N	0.334454	.	.	.	1.735	0.44892	L	4.21	0.03092	T	-1.15	0.29525	N	0.097	0.07811	-0.9035	0.47617	T	0.008	0.02842	T	9	0.124740005	0.23696	T	0.004582	0.11315	T	0.036	0.09122	0.356	0.35734	0.614299490926	0.61118	.	.	0.0702066538001	0.07864	0.196558102965	0.00363	T	0.110223	0.42474	T	-0.2763	0.11065	T	-0.634662	0.10063	T	0.472689867019653	0.31630	T	0.718928	0.33194	T	0.11379457	0.26871	0.14240111	0.33878	0.11379457	0.26870	0.14240111	0.33877	-4.282	0.30162	T	.	.	0.082	0.11749	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.734755	0.22078	15.47	0.97758898969033559	0.35794	0.29434	0.23820	N	AEFBCI	0.206146	0.33243	N	-0.511897865742639	0.21694	1.153214	-0.515806926594098	0.21724	1.176545	0.0608152211272402	0.15210	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.25	4.25	0.49658	0.626000	0.24185	.	.	0.618000	0.50648	0.000000	0.06391	1.000000	0.68203	0.064000	0.16252	0.0:0.0:1.0:0.0	14.970	0.70878	976	0.04745	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3546.98	38	chr19	56817223	.	G	C	3546.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=1017;ExcessHet=0.0000;FS=1.450;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=0.864;SOR=0.607	GT:AD:DP:GQ:PL	0/1:140,133:273:99:3561,0,3748	20	0	1	0
chr19	58417384	58417384	G	A	exonic	ZNF584	.	nonsynonymous SNV	ZNF584:NM_001363680:exon4:c.G731A:p.R244Q	.	.	424	1085	11	2	0	15	0.00686499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.004	B	.	.	0.863	N	0.405	N	1.29	T	-0.960	T	0.028	T	0.054	-0.317	2.493	-2.29	-0.172	-0.003	8.258	0.041	.	0.0035	0.00239617	0.0055	0.0005	0.0014	0	0.0237	0.0066	0.0110	0.0025	0.0052781	816	154602	rs35111737	0.0060	0.0060	0.0061	0.0060	0.0110	0.0059	0.0059	0.0088	0.0080	0.0008	0.0017	0.0106	0	0.0254	0.0110	0.0058	0.0061	0.0021	0.0057	0.0057	0.0051	0.0062	0.0071	0.0053	0.0052	0.0066	0.0064	0.0009	0	0.0027	0.0118	0	0.0219	0.0205	0.0071	0.0057	0.0017	0.734	0.03764	T	0.784	0.04274	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	0.999995	0.08975	N	0.28	0.10031	N	1.29	0.35775	T	1.63	0.00629	N	0.058	0.03726	-0.9596	0.39255	T	0.028	0.11838	T	9	0.004229307	0.00084	T	.	.	.	0.041	0.10877	.	.	0.21279746466	0.20884	0.15045638723025195	0.14967	0.239648727722	0.26511	0.274905443192	0.06792	T	0.005071	0.04506	T	-0.68172	0.00047	T	-0.745197	0.03676	T	0.00341476257635282	0.00036	T	0.741726	0.36682	T	0.029593606	0.02479	0.053629592	0.09072	0.029593606	0.02479	0.053629592	0.09072	-0.723	0.00739	T	.	.	0.072	0.05890	B	.;.	.;.	0.162145	0.05527	1.987	0.75716381492158857	0.11183	0.04870	0.10609	N	AEFBI	.	.	.	-1.32224677869663	0.03421	0.1528141	-1.23585087168514	0.05344	0.2543848	0.0812753254984414	0.15869	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.78	-2.29	0.06419	-0.884000	0.04273	-2.949000	0.03201	-0.763000	0.03499	0.000000	0.06391	0.000000	0.08366	0.916000	0.45140	0.6334:0.0:0.3666:0.0	8.258	0.30929	929	0.16858	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	rs35111737	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4311.11	34	chr19	58417384	.	G	A	4311.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.11;DP=1705;ExcessHet=0.1072;FS=4.621;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.87;ReadPosRankSum=-7.710e-01;SOR=0.481	GT:AD:DP:GQ:PL	0/1:70,64:134:99:1754,0,1734	19	0	2	0
chr20	2835601	2835601	C	T	exonic	PCED1A	.	nonsynonymous SNV	PCED1A:NM_001271168:exon8:c.G1073A:p.R358H	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.063	N	0.502	N	1.845	L	0.07	T	-0.193	T	0.360	T	0.446	4.125	21.3	3.81	2.424	1.892	11.488	0.154	0.135091255735	.	.	3.314e-05	0	0	0	0	1.505e-05	0	0.0002	3.88e-05	6	154602	rs564202048	1.984e-05	1.984e-05	1.634e-05	2.338e-05	0.0003	1.392e-05	1.204e-05	6.094e-05	2.522e-05	0	0	0	2.52e-05	0	0.0003	1.529e-05	6.625e-05	5.798e-05	1.969e-05	1.968e-05	1.285e-05	2.685e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0068	1.47e-05	0	0	0.002	0.72154	D	0.011	0.64786	D	1.0	0.90584	D	0.991	0.84481	D	0.062868	0.22066	N	0.424789	0.501556	0.31721	N	2.42	0.70002	M	0.07	0.64264	T	-2.02	0.52289	N	0.595	0.65245	-0.1932	0.77847	T	0.360	0.72155	T	10	0.6733623	0.70846	D	0.135091	0.81754	D	0.154	0.40340	0.307	0.27806	0.768888816365	0.76677	0.3053604330031875	0.30449	1.29702667669	0.82924	0.412586480379	0.26815	T	0.050561	0.28629	T	-0.153321	0.27793	T	-0.221343	0.52608	T	0.46648661373231	0.31403	T	0.80392	0.46746	T	0.13084303	0.30518	0.119368866	0.28813	0.13084303	0.30518	0.119368866	0.28812	-3.732	0.19791	T	.	.	0.085	0.13362	B	.;.	.;.	4.167384	0.62634	24.5	0.99926297267474506	0.99103	0.57266	0.30332	D	AEFDBHCI	0.303763	0.41165	N	0.522464658544717	0.68422	5.214818	0.456095548739107	0.65108	4.782418	0.997433598925693	0.35614	0.706298	0.61202	0	0.643519	0.57511	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.81	3.81	0.43020	1.902000	0.39479	3.679000	0.39461	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:1.0:0.0:0.0	11.488	0.49615	485	0.77085	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1382.98	38	chr20	2835601	.	C	T	1382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.510;DP=810;ExcessHet=0.0000;FS=1.580;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=1.61;SOR=0.877	GT:AD:DP:GQ:PL	0/1:49,54:103:99:1397,0,1181	20	0	1	0
chr20	2863349	2863349	C	T	exonic	VPS16	.	nonsynonymous SNV	VPS16:NM_080413:exon11:c.C995T:p.P332L	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.959	D	0.000	D	1.000	D	3.105	M	0.77	T	-0.168	T	0.351	T	0.652	4.861	27.8	4.67	2.426	6.848	15.105	0.433	0.105135148636	.	.	5.767e-05	0	0	0	0	1.499e-05	0	0.0004	4.53e-05	7	154602	rs202019988	3.078e-05	3.078e-05	1.225e-05	4.95e-05	0.0004	2.347e-05	2.095e-05	0.0003	0.0002	0	0	0	0	0	0.0003	7.194e-06	4.967e-05	0.0004	1.314e-05	1.313e-05	2.569e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	0	0	0.0002	0.002	0.72154	D	0.003	0.76473	D	0.986	0.73220	D	0.722	0.70163	P	0.000000	0.84330	D	0.054301	1	0.81001	D	2.64	0.77224	M	0.73	0.50721	T	-6.49	0.94274	D	0.675	0.68950	-0.1678	0.78481	T	0.351	0.71502	T	10	0.5702216	0.65277	D	0.105135	0.78009	D	0.433	0.73879	0.48	0.55983	0.866220678794	0.86491	0.5485649576803717	0.54782	0.70152782101	0.61159	0.570145189762	0.48698	T	0.313743	0.68547	T	-0.147031	0.28778	T	-0.144429	0.59733	T	0.721659541130066	0.41783	D	0.907909	0.67446	D	0.5767807	0.71432	0.5472588	0.73827	0.5767807	0.71433	0.5472588	0.73828	-12.856	0.88761	D	.	.	0.372	0.65381	A	.;.;.	.;.;.	4.892790	0.80347	27.3	0.99888210856203685	0.96281	0.98888	0.88198	D	AEFDBI	0.769719	0.70489	D	0.785515053708924	0.85193	8.503211	0.725985166498079	0.84350	8.267994	0.99999925588633	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.67	4.67	0.58089	5.262000	0.65319	7.732000	0.67763	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	15.105	0.71992	476	0.77720	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3027.98	33	chr20	2863349	.	C	T	3027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=964;ExcessHet=0.0000;FS=3.463;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=0.607;SOR=0.905	GT:AD:DP:GQ:PL	0/1:133,120:253:99:3042,0,3321	20	0	1	0
chr20	3195328	3195328	T	C	exonic	DDRGK1	.	nonsynonymous SNV	DDRGK1:NM_023935:exon5:c.A536G:p.E179G,	.	.	407	1113	2	0	0	2	0.000897666	.	.	2002134	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.996	D	0.000	D	1.000	D	2.9	M	0.42	T	-0.197	T	0.367	T	0.467	4.171	21.6	4.48	1.874	6.571	11.752	0.430	0.112159962598	.	.	8.487e-06	0	0	0	0	1.522e-05	0	0	6.5e-06	1	154602	rs778690394	3.641e-05	3.625e-05	3.553e-05	3.73e-05	4.329e-05	2.84e-05	2.576e-05	3.352e-05	2.964e-05	2.998e-05	0	0	0	0	0	4.329e-05	4.992e-05	1.172e-05	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.005	0.79402	D	0.999	0.77913	D	0.995	0.83170	D	0.000000	0.84330	D	0.046793	1	0.81001	D	2.515	0.73286	M	0.42	0.56937	T	-6.08	0.89910	D	0.665	0.73015	-0.1972	0.77743	T	0.367	0.72735	T	10	0.8250778	0.81691	D	0.11216	0.79020	D	0.430	0.73662	0.481	0.56142	0.736651910863	0.73429	0.24513281377790896	0.24427	0.884254116262	0.69901	0.495906949043	0.38258	T	0.291665	0.75960	T	-0.0476807	0.44798	T	-0.196208	0.55006	T	0.977378129959106	0.71814	D	0.892711	0.62952	D	0.69269997	0.77658	0.61225647	0.77440	0.69269997	0.77659	0.61225647	0.77441	-12.202	0.85821	D	.	.	0.318	0.54368	B	.;.	.;.	5.047982	0.84062	28.2	0.99917194890295402	0.98518	0.93770	0.59141	D	AEFBCI	0.768390	0.70396	D	0.742296880354506	0.82400	7.753718	0.656210375204352	0.79074	7.006115	0.99098665770797	0.32334	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.48	4.48	0.53973	6.751000	0.74689	7.861000	0.71444	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.572000	0.30699	0.0:0.0:0.0:1.0	11.752	0.51119	632	0.64850	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1222.98	48	chr20	3195328	.	T	C	1222.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.438e+00;DP=854;ExcessHet=0.0000;FS=1.497;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=1.27;SOR=0.562	GT:AD:DP:GQ:PL	0/1:60,55:115:99:1237,0,1464	20	0	1	0
chr20	3698086	3698086	C	T	exonic	SIGLEC1	.	nonsynonymous SNV	SIGLEC1:NM_001367089:exon8:c.G1834A:p.A612T	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.036	B	0.019	B	0.204	N	1.000	N	0.205	N	1.97	T	-1.024	T	0.023	T	0.048	0.860	8.482	-5.22	-1.117	-3.311	4.216	0.021	0.00393170437637	.	.	2.235e-05	0.0002	0	0	0	0	0.0015	0	1.29e-05	2	154602	rs750338322	7.558e-06	1.231e-05	5.469e-06	9.668e-06	6.024e-05	4.06e-06	2.97e-06	9.98e-06	3.73e-06	6.024e-05	0	0	2.528e-05	0	0	6.306e-06	0	1.168e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.436	0.09374	T	0.357	0.17115	T	0.036	0.20732	B	0.019	0.18783	B	0.203661	0.03337	N	1.787120	1	0.08975	N	-0.055	0.04927	N	1.97	0.22067	T	-0.13	0.08971	N	0.064	0.03613	-1.0240	0.22410	T	0.023	0.09741	T	10	0.031507343	0.01286	T	0.003932	0.09274	T	0.021	0.04004	.	.	0.0806252709748	0.07271	0.3063664208417666	0.30549	0.114698624916	0.12937	0.312042951584	0.12216	T	0.056733	0.30370	T	-0.41777	0.01767	T	-0.837874	0.01131	T	0.0115486333666334	0.00175	T	0.571443	0.20372	T	0.020485029	0.00609	0.038879808	0.03856	0.020485029	0.00608	0.038879808	0.03856	-4.767	0.34204	T	.	.	0.073	0.04681	B	.	.	-0.784760	0.01137	0.053	0.72339290996816985	0.09939	0.02209	0.06439	N	AEFDBI	0.100579	0.20221	N	-1.39096813674652	0.02722	0.1205978	-1.45753448257689	0.02703	0.1247861	0.181226047123012	0.17874	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.9	-5.22	0.02592	-4.185000	0.00316	-8.213000	0.01008	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.3389:0.1841:0.0:0.477	4.216	0.09991	740	0.53092	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1027.98	36	chr20	3698086	.	C	T	1027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.52;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-2.650e-01;SOR=0.735	GT:AD:DP:GQ:PL	0/1:38,39:77:99:1042,0,845	20	0	1	0
chr20	3784707	3784707	G	C	exonic	CENPB	.	nonsynonymous SNV	CENPB:NM_001810:exon1:c.C1777G:p.R593G,	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.423	B	0.366	B	0.703	U	0.951	N	0.55	N	1.57	T	-0.983	T	0.057	T	0.447	1.488	10.92	2.03	0.156	1.565	4.186	0.141	0.00871899157906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	0.423	0.35444	B	0.366	0.43381	B	0.703243	0.10076	U	0.782790	0.950792	0.26493	N	0.805	0.20218	L	1.57	0.29342	T	-1.17	0.29933	N	0.309	0.34874	-0.9828	0.34351	T	0.057	0.23980	T	10	0.23637578	0.40718	T	0.008719	0.23025	T	0.141	0.37795	0.624	0.75916	0.285775778912	0.28195	0.39394845110703003	0.39309	1.70176493166	0.90331	0.390411317348	0.23728	T	0.051483	0.28893	T	-0.122436	0.32728	T	-0.413648	0.31806	T	0.343560039930069	0.26764	T	0.509649	0.16214	T	0.123810895	0.29065	0.073782936	0.16069	0.123810895	0.29064	0.073782936	0.16069	-2.845	0.08605	T	.	.	0.089	0.11989	B	.	.	2.947821	0.39217	20.9	0.97287778695400051	0.33214	0.75520	0.36980	D	AEFDGBHCI	0.374693	0.45950	N	-0.13032014952447	0.36075	2.080495	-0.0492583024420631	0.37522	2.198118	0.999999995691057	0.74766	0.741868	0.97996	0	0.774882	0.99574	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	5.15	2.03	0.25714	1.805000	0.38520	5.507000	0.48788	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.203:0.0:0.617:0.18	4.186	0.09856	789	0.46346	Centromere protein CENP-B, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1191.98	41	chr20	3784707	.	G	C	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.67;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=-1.017e+00;SOR=0.645	GT:AD:DP:GQ:PL	0/1:51,47:98:99:1206,0,1111	20	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.805	M	1.81	T	-0.672	T	0.200	T	0.989	4.476	23.9	5.24	2.630	7.128	16.698	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	3189.23	101	chr20	3803192	.	G	C	3189.23	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.821e+00;DP=2547;ExcessHet=20.9642;FS=188.196;InbreedingCoeff=-0.6177;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=1.88;ReadPosRankSum=1.63;SOR=13.596	GT:AD:DP:GQ:PL	0/1:64,33:105:99:146,0,884	5	0	16	0
chr20	18315315	18315315	T	C	exonic	ZNF133	.	nonsynonymous SNV	ZNF133:NM_001283005:exon2:c.T407C:p.F136S	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.009	B	0.006	B	0.106	N	0.981	N	1.5	L	5.66	T	-0.968	T	0.014	T	0.368	0.463	6.515	1.81	0.376	-0.106	4.255	0.032	0.0048461837933	7.7e-05	.	8.242e-05	9.649e-05	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs377301648	0.0001	0.0001	0.0002	0.0001	0.0069	0.0001	0.0001	0.0052	0.0046	8.961e-05	0.0002	0.0012	0	0	0.0069	9.532e-05	0.0003	1.159e-05	8.542e-05	8.532e-05	0.0001	5.376e-05	0.0002	4.957e-05	3.963e-05	2.847e-05	1.859e-05	0	0	6.539e-05	0.0017	0	0	0	7.352e-05	0	0.0002	0.247	0.23271	T	0.223	0.25670	T	0.009	0.15093	B	0.006	0.12133	B	0.106348	0.19618	N	0.437295	0.988769	0.25036	N	0.48	0.13178	N	3.33	0.06138	T	-1.38	0.34198	N	0.153	0.19995	-0.9677	0.37673	T	0.014	0.05608	T	10	0.022485971	0.00563	T	0.004846	0.12130	T	0.032	0.07718	.	.	0.20808081866	0.20439	0.17518070971119304	0.17437	0.700449285445	0.61096	0.502140402794	0.39125	T	0.012719	0.11127	T	-0.400653	0.02293	T	-0.543987	0.17907	T	0.0107263832947095	0.00151	T	0.565243	0.23473	T	0.060092766	0.12289	0.04792041	0.07009	0.060092766	0.12288	0.04792041	0.07009	-1.211	0.01360	T	.	.	0.162	0.35808	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	1.353045	0.17607	13.26	0.93031003445250393	0.22632	0.23116	0.21971	N	AEFGBI	0.053771	0.09717	N	-0.758527278512744	0.14402	0.7171527	-0.752466815981984	0.15662	0.8248151	0.999913043978542	0.45857	0.617157	0.39670	1	0.653731	0.59785	0	0.786243	0.99158	0	0.635551	0.53088	0	.	.	4.15	1.81	0.24139	0.331000	0.19477	0.399000	0.17978	0.665000	0.62972	0.002000	0.15269	0.027000	0.21108	0.933000	0.47100	0.1782:0.1049:0.0:0.7169	4.255	0.10161	784	0.47045	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2373.98	56	chr20	18315315	.	T	C	2373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.387e+00;DP=1251;ExcessHet=0.0000;FS=0.626;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.15;ReadPosRankSum=0.274;SOR=0.597	GT:AD:DP:GQ:PL	0/1:57,90:147:99:2388,0,1485	20	0	1	0
chr20	32071735	32071735	C	G	exonic	HCK	.	nonsynonymous SNV	HCK:NM_001172129:exon2:c.C73G:p.P25A	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.002	B	0.661	N	1.000	N	0.55	N	-0.67	T	-1.012	T	0.160	T	0.146	0.842	8.401	-0.253	0.182	-0.221	3.176	0.050	0.0105029023185	0.0006	0.000998403	0.0003	0.0021	8.646e-05	0	0	0.0003	0	0	0.0002975	46	154602	rs147906206	0.0002	0.0002	0.0002	0.0002	0.0030	0.0002	0.0001	0.0025	0.0023	0.0030	0.0002	3.827e-05	0	1.872e-05	0.0026	9.083e-05	0.0004	0	0.0008	0.0008	0.0008	0.0008	0.0024	0.0007	0.0006	0.0020	0.0019	0.0024	0	0.0003	0	0	0	0.0034	0.0002	0.0014	0	0.247	0.20683	T	0.779	0.11004	T	0.0	0.02946	B	0.002	0.06944	B	0.660694	0.05978	N	1.240240	1	0.08975	N	1.245	0.31408	L	-0.67	0.72678	T	-0.24	0.12099	N	0.22	0.25006	-1.0116	0.26416	T	0.160	0.49447	T	10	0.0047525167	0.00100	T	0.010503	0.27109	T	0.050	0.13987	.	.	0.475430695062	0.47172	0.06030458553689394	0.05970	.	.	0.218865916133	0.01245	T	0.006951	0.31691	T	-0.481002	0.00729	T	-0.470487	0.25464	T	0.00243759738003591	0.00025	T	0.514149	0.16548	T	0.02249149	0.00916	0.030427882	0.01497	0.02249149	0.00916	0.030427882	0.01497	-4.215	0.29339	T	.	.	0.060	0.00890	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.111212	0.03574	0.694	0.59816665029212734	0.06314	0.03789	0.09113	N	AEFBI	0.077547	0.15626	N	-1.12999471740164	0.06115	0.2806529	-1.16011195805502	0.06589	0.317622	0.999582906820994	0.40607	0.626454	0.40138	0	0.80507	0.99744	0	0.675528	0.61593	0	0.631631	0.49550	0	.	.	4.28	-0.253	0.12353	0.152000	0.16120	-0.475000	0.08954	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.3642:0.4286:0.0:0.2071	3.176	0.06175	463	0.78548	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2189.98	33	chr20	32071735	.	C	G	2189.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.650e-01;DP=820;ExcessHet=0.0000;FS=3.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.25;ReadPosRankSum=-1.540e+00;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,57:120:99:0|1:32071734_C_T:2204,0,2474:32071734	20	0	1	0
chr20	32795501	32795501	G	A	exonic	DNMT3B	.	nonsynonymous SNV	DNMT3B:NM_001207056:exon8:c.G931A:p.G311S	Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	335232	not_provided|Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_1|Centromeric_instability_of_chromosomes_1,9_and_16_and_immunodeficiency|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0009454,MedGen:C4551557,OMIM:242860,Orphanet:2268|MONDO:MONDO:0000133,MedGen:C0398788,OMIM:PS242860,Orphanet:2268|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.74	T	0.892	P	0.242	B	0.260	N	1.000	D	1.01	L	-4.08	D	0.192	D	0.687	D	0.076	-0.182	3.116	3.31	1.404	0.807	7.917	0.235	0.0992234637661	0.0002	.	0.0003	0.0010	0.0003	0	0	0.0003	0.0033	0	0.0002329	36	154602	rs148646143	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0.0007	0.0007	0	0	1.872e-05	0.0014	0.0002	0.0006	3.478e-05	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	0.0006	0	0	0	0	0.0002	0	0	0.163	0.23450	T	0.775	0.04402	T	0.892	0.49086	P	0.242	0.38699	B	0.259900	0.15336	N	0.662664	0.999914	0.51042	D	0.46	0.12951	N	-4.08	0.96594	D	-0.7	0.19933	N	0.143	0.20395	0.192	0.85777	D	0.687	0.89195	D	10	0.046581447	0.03867	T	0.099223	0.77073	D	0.235	0.53788	.	.	0.689903171571	0.68724	0.3317558292031476	0.33088	0.720945527745	0.62206	0.438511133194	0.30374	T	0.042396	0.26168	T	-0.295743	0.09067	T	-0.283095	0.46486	T	0.0162305453987428	0.00396	T	0.844715	0.52235	T	0.048159484	0.08350	0.055771515	0.09843	0.048159484	0.08349	0.055771515	0.09843	-3.948	0.33015	T	0.08001358025516235	0.03995	0.083	0.09239	B	.;.;.;.;.;.	.;.;.;.;.;.	2.392160	0.30723	18.52	0.56822127601155636	0.05635	0.39012	0.26117	N	AEFBCI	0.023183	0.01257	N	-0.536930855376907	0.20895	1.104937	-0.470876511678471	0.22960	1.249733	0.997518211851135	0.35704	0.631515	0.41029	0	0.588066	0.40923	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.29	3.31	0.37025	0.863000	0.27567	4.950000	0.46275	0.676000	0.76740	0.666000	0.28313	1.000000	0.68203	0.241000	0.23027	0.2463:0.0:0.7537:0.0	7.917	0.28987	311	0.87433	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1884.98	34	chr20	32795501	.	G	A	1884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=959;ExcessHet=0.0000;FS=0.581;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=0.076;SOR=0.776	GT:AD:DP:GQ:PL	0/1:83,78:161:99:1899,0,1853	20	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	1.935	M	1.98	T	-1.040	T	0.128	T	0.791	4.250	22.1	6.17	2.941	5.778	13.996	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4524	4553.08	146	chr20	34852409	.	G	C	4553.08	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-3.218e+00;DP=3222;ExcessHet=36.0830;FS=276.126;InbreedingCoeff=-0.8285;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=1.76;ReadPosRankSum=0.755;SOR=12.688	GT:AD:DP:GQ:PL	0/1:71,60:138:99:524,0,962	2	0	19	0
chr20	36030643	36030643	G	A	exonic	CNBD2	.	nonsynonymous SNV	CNBD2:NM_001365709:exon12:c.G1726A:p.A576T	.	.	433	1087	2	0	0	2	0.000919118	.	.	2347587	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.007	B	0.076	B	0.017	N	1.000	D	0	N	2.6	T	-1.045	T	0.022	T	0.113	2.202	13.32	4.39	1.394	2.139	12.401	0.064	0.0139124974066	0.0003	.	0.0002	9.701e-05	0	0	0	0.0003	0	0	0.0001423	22	154602	rs145803772	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	0	0	0	0	0	0.0017	0.0002	0.0002	9.275e-05	0.0002	0.0002	0.0003	0.0002	0.0005	0.0002	0.0001	0.0003	0.0003	0	0	0	0	0	0	0	0.0005	0	0.0002	0.0	0.91255	D	.	.	.	0.007	0.14184	B	0.076	0.28435	B	0.016927	0.27850	N	0.263843	1	0.81001	D	0	0.06538	N	2.6	0.13204	T	-0.31	0.12099	N	0.154	0.15888	-1.0451	0.15796	T	0.022	0.09513	T	10	0.05229935	0.05242	T	0.013912	0.33663	T	0.064	0.18567	.	.	0.0954503805726	0.09146	0.24116309275730896	0.24030	0.111187110948	0.12544	0.419134914875	0.27718	T	2.9E-4	0.00073	T	-0.486029	0.00683	T	-0.617851	0.11353	T	0.0675154274079893	0.08298	T	0.360464	0.08297	T	0.136664	0.31672	0.17204963	0.39431	0.136664	0.31672	0.17204963	0.39430	-3.081	0.11319	T	.	.	0.139	0.32128	B	.;.	.;.	3.033655	0.40645	21.2	0.97337625515978732	0.33457	0.54122	0.29538	D	AEFBI	0.183234	0.31057	N	-0.516565774373597	0.21544	1.14414	-0.346055362840555	0.26631	1.472251	0.00100890369641989	0.08115	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.33	4.39	0.52211	2.162000	0.41994	5.685000	0.49312	-0.172000	0.11096	1.000000	0.71638	1.000000	0.68203	0.354000	0.25750	0.0:0.8286:0.1714:0.0	12.401	0.54745	687	0.59234	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1551.98	34	chr20	36030643	.	G	A	1551.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.655e+00;DP=845;ExcessHet=0.0000;FS=1.463;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=-1.200e-02;SOR=0.542	GT:AD:DP:GQ:PL	0/1:68,61:129:99:1566,0,1832	20	0	1	0
chr20	38354379	38354379	C	G	exonic	LBP	.	nonsynonymous SNV	LBP:NM_004139:exon4:c.C464G:p.T155S,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.003	B	0.041	B	0.171	N	1.000	N	0.245	N	3.5	T	-0.914	T	0.009	T	0.103	-1.320	0.033	2.81	0.725	2.235	6.628	0.058	0.0051615828506	0.0025	0.00119808	0.0017	0.0005	0.0023	0.0012	0	0.0025	0.0011	0	0.0020116	311	154602	rs140791140	0.0030	0.0030	0.0030	0.0029	0.0035	0.0029	0.0029	0.0034	0.0034	0.0004	0.0034	0.0019	0.0009	0.0002	0.0009	0.0035	0.0026	6.957e-05	0.0021	0.0021	0.0021	0.0021	0.0039	0.0019	0.0018	0.0031	0.0028	0.0005	0	0.0039	0.0012	0.0021	0.0002	0.0034	0.0031	0.0052	0	0.69	0.04302	T	1.0	0.01155	T	0.003	0.11197	B	0.041	0.23986	B	0.170971	0.17375	N	0.571547	1	0.08975	N	0.79	0.19579	N	3.5	0.05014	T	-0.44	0.14588	N	0.129	0.12341	-0.9143	0.46311	T	0.009	0.03140	T	10	0.0044599473	0.00092	T	0.005162	0.13125	T	0.058	0.16647	0.452	0.51448	0.141422826196	0.13715	0.24020681835314237	0.23934	0.088101396591	0.09952	0.333153188229	0.15410	T	0.021314	0.16617	T	-0.641629	0.00081	T	-0.694952	0.06106	T	0.0077685531030956	0.00091	T	0.467153	0.13745	T	0.07193386	0.15964	0.064475514	0.12926	0.07193386	0.15963	0.064475514	0.12926	-3.119	0.11516	T	.	.	0.084	0.09820	B	.	.	0.338335	0.07118	3.697	0.39771850120629304	0.02765	0.10952	0.16306	N	AEFDBI	0.600519	0.59312	D	-1.00189542527828	0.08564	0.4020368	-0.948026893486962	0.10969	0.555921	0.987116285399738	0.31187	0.559995	0.30671	0	0.547309	0.14657	0	0.527494	0.11647	0	0.530356	0.10902	0	.	.	4.77	2.81	0.31971	2.259000	0.42914	1.738000	0.28378	0.599000	0.40250	0.055000	0.21596	0.002000	0.18203	0.136000	0.19798	0.0:0.7225:0.1809:0.0966	6.628	0.22032	793	0.45818	Lipid-binding serum glycoprotein, N-terminal|Lipid-binding serum glycoprotein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2100.98	38	chr20	38354379	.	C	G	2100.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.025e+00;DP=900;ExcessHet=0.0000;FS=11.208;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=-4.860e-01;SOR=0.298	GT:AD:DP:GQ:PL	0/1:109,89:198:99:2115,0,2922	20	0	1	0
chr20	45300966	45300966	C	A	exonic	MATN4	.	nonsynonymous SNV	MATN4:NM_030592:exon4:c.G687T:p.Q229H	.	.	.	.	.	.	.	.	.	.	.	3278117	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.37	T	0.883	P	0.724	P	0.099	N	1.000	D	0.705	N	-1.13	T	-0.515	T	0.378	T	0.527	3.192	16.69	5.19	2.937	0.675	15.090	0.393	0.00996316588514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.163e-05	1.163e-05	1.634e-05	6.876e-06	0.0016	7.08e-06	5.79e-06	0.0008	0.0006	0	2.236e-05	0	0	0	0.0016	2.698e-06	3.312e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457	0.11334	T	0.48	0.11899	T	0.855	0.48537	P	0.724	0.55036	P	0.099235	0.19943	N	0.363990	0.99995	0.52396	D	1.165	0.29723	L	-1.13	0.77719	T	-2.41	0.54546	N	0.304	0.38129	-0.5146	0.68117	T	0.378	0.73520	T	10	0.24721831	0.41999	T	0.009963	0.25923	T	0.393	0.70844	0.486	0.56939	0.81854064889	0.81682	0.6919856270060782	0.69138	0.41752589699	0.42368	0.377506017685	0.21901	T	0.034595	0.23385	T	0.0148037	0.53678	T	-0.216512	0.53073	T	0.370979011058807	0.27835	T	0.466753	0.23084	T	0.3820124	0.59462	0.3304083	0.58910	0.3820124	0.59462	0.3304083	0.58909	-5.723	0.43897	T	0.1630530830077019	0.20067	0.142	0.31228	B	.;.;.;.;.	.;.;.;.;.	3.324279	0.45731	22.2	0.99559754682442958	0.71707	0.89500	0.50004	D	AEFDGBHCI	0.624360	0.60796	D	0.169111738299105	0.49720	3.169216	0.307787680368206	0.55995	3.762539	0.999999448738509	0.74766	0.696267	0.57585	0	0.600433	0.49495	0	0.691665	0.62940	0	0.584449	0.35598	0	.	.	6.14	5.19	0.71428	0.691000	0.25147	0.616000	0.20081	-0.177000	0.10537	0.999000	0.42656	0.998000	0.33993	0.990000	0.65344	0.0:0.9315:0.0:0.0685	15.090	0.71858	872	0.31118	.;EGF-like calcium-binding domain|EGF-like domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3300.98	41	chr20	45300966	.	C	A	3300.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=2188;ExcessHet=0.0000;FS=3.232;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=9.000e-03;SOR=0.886	GT:AD:DP:GQ:PL	0/1:160,126:286:99:3315,0,4361	20	0	1	0
chr20	45902564	45902564	C	T	exonic	PLTP	.	nonsynonymous SNV	PLTP:NM_001242920:exon9:c.G698A:p.R233Q	.	.	416	1102	4	0	0	4	0.00181159	.	.	2125665	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.64	T	0.021	B	0.005	B	0.410	N	1.000	N	-0.41	N	3.04	T	-0.910	T	0.009	T	0.11	-0.610	1.282	-1.02	-0.026	0.524	9.885	0.015	0.00998828515733	0.0002	.	0.0002	0.0001	0.0006	0	0	0.0003	0	0	0.000194	30	154602	rs200022812	0.0002	0.0002	0.0002	0.0002	0.0049	0.0002	0.0002	0.0035	0.0030	0.0002	0.0004	0.0008	0	0	0.0049	0.0002	0.0003	9.276e-05	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	8.72e-05	0.0001	0.0001	7.238e-05	0	6.547e-05	0.0009	0	0	0	0.0002	0	0.0002	0.711	0.12469	T	0.897	0.03409	T	0.017	0.18474	B	0.001	0.11217	B	0.409696	0.13014	N	0.761820	1	0.08975	N	-0.205	0.04094	N	3.04	0.08810	T	0.69	0.02195	N	0.102	0.08506	-0.9098	0.46879	T	0.009	0.03271	T	10	0.012835592	0.00274	T	0.009988	0.25990	T	0.015	0.02232	.	.	0.110078149338	0.10416	0.37788755526212847	0.37703	0.210666846013	0.23558	0.229070320725	0.01900	T	0.110795	0.42577	T	-0.561181	0.00250	T	-0.715913	0.04995	T	0.00294897379353642	0.00031	T	0.791221	0.46699	T	0.03434065	0.03834	0.04002881	0.04233	0.03434065	0.03834	0.04002881	0.04233	-3.836	0.32159	T	.	.	0.067	0.02578	B	.;.;.;.;.	.;.;.;.;.	0.210313	0.05940	2.379	0.69996821691399325	0.09152	0.05437	0.11312	N	AEFDBHCI	0.136815	0.25760	N	-1.31721614383018	0.03478	0.155431	-1.27346347091075	0.04792	0.2269054	0.948729943756921	0.27813	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.28	-1.02	0.09618	0.298000	0.18874	-0.216000	0.10808	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.404000	0.26872	0.0:0.3856:0.0:0.6144	9.885	0.40427	746	0.52331	.;.;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1167.98	38	chr20	45902564	.	C	T	1167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=815;ExcessHet=0.0000;FS=2.149;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.69;ReadPosRankSum=1.53;SOR=1.025	GT:AD:DP:GQ:PL	0/1:26,44:70:99:1182,0,553	20	0	1	0
chr20	45902579	45902579	A	G	exonic	PLTP	.	nonsynonymous SNV	PLTP:NM_001242920:exon9:c.T683C:p.L228S	.	.	413	1105	4	0	0	4	0.00180668	.	.	2125666	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.993	D	0.899	P	0.023	N	1.000	D	1.7	L	2.72	T	-1.130	T	0.078	T	0.831	4.863	27.8	5.28	2.224	7.967	15.368	0.356	0.0254123040335	0.0002	.	0.0002	0.0001	0.0007	0	0	0.0003	0	0	0.0001876	29	154602	rs373772930	0.0002	0.0002	0.0002	0.0002	0.0047	0.0002	0.0002	0.0033	0.0028	0.0001	0.0004	0.0008	0	0	0.0047	0.0002	0.0003	6.963e-05	0.0001	0.0001	0.0001	0.0002	0.0002	9.746e-05	8.26e-05	0.0001	9.898e-05	7.238e-05	0	6.545e-05	0.0009	0	0	0	0.0002	0	0.0002	0.002	0.78490	D	0.002	0.79402	D	0.903	0.54400	P	0.67	0.61067	P	0.022956	0.26535	N	0.407025	0.999949	0.51968	D	1.995	0.54099	M	2.72	0.11947	T	-3.12	0.65742	D	0.821	0.82862	-1.1300	0.01782	T	0.078	0.30982	T	10	0.58454746	0.66036	D	0.025412	0.48380	D	0.356	0.67691	.	.	0.297718772494	0.29385	0.9078265415922561	0.90755	0.840301574103	0.68028	0.437705457211	0.30264	T	0.284982	0.65777	T	-0.109378	0.34873	T	-0.0669296	0.65845	T	0.201122060418129	0.20477	T	0.80342	0.45053	T	0.52503735	0.68548	0.6038986	0.76979	0.52503735	0.68549	0.6038986	0.76980	-7.915	0.64871	D	.	.	0.806	0.80654	P	.;.;.;.;.	.;.;.;.;.	4.653086	0.74191	26.1	0.99872704583222549	0.94989	0.97343	0.74151	D	AEFDBHCI	0.946221	0.95542	D	0.690199694912738	0.78989	6.984191	0.697879424623058	0.82219	7.71287	0.999999998418781	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	7.393000	0.79126	11.165000	0.87778	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	1.0:0.0:0.0:0.0	15.368	0.74254	746	0.52331	.;.;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	919.98	38	chr20	45902579	.	A	G	919.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.600e-02;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.14;ReadPosRankSum=1.66;SOR=0.795	GT:AD:DP:GQ:PL	0/1:21,36:57:99:934,0,480	20	0	1	0
chr20	49906820	49906820	T	G	exonic	SPATA2	.	nonsynonymous SNV	SPATA2:NM_001135773:exon3:c.A362C:p.Y121S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.96	D	0.663	P	0.005	N	1.000	D	1.5	L	-0.03	T	-0.679	T	0.243	T	0.725	2.673	14.90	4.5	0.929	3.710	10.019	0.331	0.030845030118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29158	T	0.036	0.52060	D	0.96	0.55278	D	0.663	0.52893	P	0.004612	0.33568	N	0.293492	0.991121	0.81001	D	2.095	0.58118	M	-0.03	0.63077	T	-2.87	0.60348	D	0.71	0.71498	-0.6788	0.61428	T	0.243	0.61201	T	10	0.58538824	0.66081	D	0.030845	0.53068	D	0.331	0.65325	0.434	0.48500	0.362933182269	0.35899	0.6727801292125147	0.67216	0.399734681576	0.40989	0.4348269701	0.29869	T	0.055225	0.29946	T	0.101775	0.64483	D	-0.0915834	0.64042	T	0.774645328521729	0.44721	D	0.831017	0.49766	T	0.51594	0.68026	0.20415933	0.44526	0.51594	0.68027	0.20415933	0.44525	-6.65	0.51433	T	.	.	0.125	0.27313	B	.;.	.;.	3.113050	0.41995	21.5	0.98055628144904006	0.37905	0.90706	0.52107	D	AEDBHCI	0.411785	0.48212	N	0.0525829897013685	0.44261	2.703404	0.0378185106348584	0.41487	2.493255	0.789198283229838	0.23985	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.61	4.5	0.54382	3.720000	0.54661	2.343000	0.32266	-0.255000	0.07062	1.000000	0.71638	0.998000	0.33993	0.975000	0.56047	0.2698:0.0:0.0:0.7302	10.019	0.41205	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.08333	527.98	39	chr20	49906820	.	T	G	527.98	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-3.444e+00;DP=1179;ExcessHet=0.3300;FS=254.639;InbreedingCoeff=-0.1201;MLEAC=3;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=1.96;ReadPosRankSum=1.65;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,20:93:99:0|1:49906820_T_G:172,0,2368:49906820	15	0	3	3
chr20	49906823	49906823	T	G	exonic	SPATA2	.	nonsynonymous SNV	SPATA2:NM_001135773:exon3:c.A359C:p.Y120S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.175	M	0.01	T	-0.116	T	0.429	T	0.96	4.105	21.1	5.61	2.126	7.505	15.802	0.740	0.129027542904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.625	0.76847	M	0.01	0.62459	T	-5.92	0.88963	D	0.947	0.95491	-0.1164	0.79718	T	0.429	0.77173	T	10	0.9058163	0.89946	D	0.129028	0.81103	D	0.740	0.90982	0.704	0.84054	0.484824406055	0.48112	0.7453351515872784	0.74479	0.963419316255	0.73082	0.746162295341	0.73880	T	0.451357	0.79211	T	0.338223	0.85713	D	0.248058	0.85525	D	0.994831421425804	0.86377	D	0.845915	0.52533	T	0.9436017	0.95614	0.89609224	0.94699	0.9436017	0.95614	0.89609224	0.94699	-5.655	0.43291	T	.	.	0.896	0.82547	P	.;.	.;.	5.048950	0.84086	28.2	0.99191121793113657	0.54994	0.95960	0.66903	D	AEDBHCI	0.878899	0.80446	D	0.701199312438925	0.79710	7.135678	0.654387342827681	0.78937	6.978046	0.99999941042468	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.61	5.61	0.85347	7.515000	0.80659	7.929000	0.74923	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	15.802	0.78236	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05556	280.31	39	chr20	49906823	.	T	G	280.31	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.439e+00;DP=1168;ExcessHet=0.1072;FS=219.716;InbreedingCoeff=-0.0910;MLEAC=2;MLEAF=0.056;MQ=60.00;MQRankSum=0.00;QD=1.55;ReadPosRankSum=1.44;SOR=8.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,20:92:99:0|1:49906820_T_G:175,0,2333:49906820	16	0	2	3
chr20	54162851	54162851	T	C	exonic	CYP24A1	.	nonsynonymous SNV	CYP24A1:NM_000782:exon7:c.A856G:p.I286V	Hypercalcemia, infantile, 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2703438	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.35	T	0.002	B	0.008	B	0.083	N	1.000	N	0.995	L	4.92	T	-1.048	T	0.284	T	0.144	1.449	10.79	-11.1	-2.542	0.085	22.165	0.182	0.0132942078319	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866441419	1.404e-05	2.053e-05	1.262e-05	1.546e-05	0.0026	9.17e-06	7.45e-06	0.0016	0.0013	0	4.477e-05	0	0	0	0.0026	0	5.078e-05	0	2.629e-05	2.625e-05	2.573e-05	2.689e-05	6.541e-05	8.14e-06	5.14e-06	.	.	0	0	6.541e-05	0	0	0	0.0068	0	0.0005	0	0.177	0.22224	T	0.18	0.31427	T	0.001	0.07471	B	0.005	0.11217	B	0.083172	0.20768	N	0.532611	0.999999	0.08975	N	0.765	0.19305	N	-0.17	0.80645	T	-0.52	0.18877	N	0.172	0.22870	-1.0476	0.15073	T	0.284	0.65596	T	10	0.115214705	0.21700	T	0.013294	0.32578	T	0.182	0.45420	0.717	0.85230	0.289098819767	0.28531	0.28841173233747086	0.28754	0.0537248255032	0.05932	0.252392649651	0.04023	T	0.198267	0.55520	T	-0.264803	0.12342	T	-0.442301	0.28552	T	0.0557299217318274	0.06479	T	0.545245	0.18642	T	0.044700038	0.07189	0.049355466	0.07525	0.044700038	0.07189	0.049355466	0.07524	-4.924	0.36981	T	.	.	0.056	0.09481	B	.;.;.	.;.;.	-1.026892	0.00734	0.022	0.40067056976598603	0.02804	0.12780	0.17475	N	AEFBCI	0.071239	0.14175	N	-1.81242104652946	0.00515	0.02218809	-1.93378099542837	0.00419	0.01853834	0.999999999842106	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	-11.1	0.00116	0.049000	0.13983	-4.355000	0.02200	-0.716000	0.03877	0.042000	0.21073	0.000000	0.08366	0.055000	0.15596	0.0:0.1364:0.0:0.8636	22.165	0.99969	974	0.05496	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	868.98	37	chr20	54162851	.	T	C	868.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.700e-01;DP=783;ExcessHet=0.0000;FS=4.452;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=0.878;SOR=0.342	GT:AD:DP:GQ:PL	0/1:40,39:79:99:883,0,984	20	0	1	0
chr20	56533533	56533533	G	T	exonic	FAM209B	.	nonsynonymous SNV	FAM209B:NM_001013646:exon1:c.G192T:p.L64F,	.	.	427	1065	30	0	0	30	0.0138889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.0	B	0.001	B	0.304	N	1.000	N	0.49	N	3.04	T	-0.968	T	0.011	T	0.149	-0.960	0.325	-3.7	-1.037	-1.684	4.010	0.002	0.00255680456359	.	.	9.06e-05	0.0004	0	0	0	0.0001	0	0	3.84e-05	1	26028	rs781339391	1.575e-05	0.0003	1.907e-05	1.239e-05	0.0004	1.049e-05	8.76e-06	0.0002	0.0002	0.0004	2.238e-05	0	2.521e-05	1.877e-05	0	2.7e-06	4.973e-05	2.324e-05	0.0002	0.0006	0.0002	0.0002	0.0008	0.0002	0.0001	0.0006	0.0005	0.0008	0	0	0	0	0	0	0	0	0.0002	0.609	0.05485	T	0.769	0.04492	T	0.0	0.02946	B	0.001	0.04355	B	0.303922	0.03972	N	1.580090	1	0.08975	N	0.895	0.22405	L	3.04	0.08810	T	0.08	0.06026	N	0.07	0.04307	-0.9677	0.37673	T	0.011	0.04369	T	10	0.022401571	0.00558	T	0.002557	0.05150	T	0.002	0.00045	0.303	0.27164	0.0551355673512	0.04727	0.03222785619723955	0.03170	1.43542018666	0.85878	0.287637323141	0.08579	T	0.001182	0.00684	T	-0.359334	0.04168	T	-0.753935	0.03335	T	0.0112658102873799	0.00166	T	0.485551	0.14815	T	0.03416749	0.03783	0.041784458	0.04830	0.03416749	0.03782	0.041784458	0.04829	-4.127	0.25687	T	.	.	0.118	0.24088	B	.	.	-0.667708	0.01398	0.081	0.79492774416723921	0.12767	0.00124	0.00775	N	AEFDGBI	0.012398	0.00134	N	-1.69193262594221	0.00871	0.03768169	-1.76515577824009	0.00877	0.03921669	0.0023664782939477	0.09356	0.553676	0.25195	0	0.588015	0.36545	0	0.527494	0.11647	0	0.620846	0.47308	0	.	.	2.8	-3.7	0.04150	-2.074000	0.01463	-4.949000	0.01914	-0.426000	0.05215	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2385:0.3799:0.3817	4.010	0.09106	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	734.11	33	chr20	56533533	.	G	T	734.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.61;DP=2186;ExcessHet=0.1072;FS=12.290;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.51;MQRankSum=-1.755e+01;QD=0.97;ReadPosRankSum=-3.761e+00;SOR=2.256	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:364,37:401:99:0|1:56533531_T_C:451,0,15075:56533531	19	0	2	0
chr20	56533538	56533538	C	T	exonic	FAM209B	.	nonsynonymous SNV	FAM209B:NM_001013646:exon1:c.C197T:p.A66V,	.	.	427	1074	21	0	0	21	0.00968188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.669	N	1.000	N	-1.5	N	3.47	T	-0.924	T	0.004	T	0.092	-2.986	0.001	0.122	-0.100	0.502	5.063	0.020	0.00359669840548	.	.	6.589e-05	0.0002	0	0	0	8.99e-05	0	0	3.84e-05	1	26028	rs368304173	1.437e-05	0.0002	1.771e-05	1.101e-05	0.0004	9.24e-06	7.84e-06	0.0002	0.0002	0.0004	2.237e-05	0	0	0	0	2.699e-06	4.971e-05	2.322e-05	0.0002	0.0005	0.0002	0.0002	0.0008	0.0002	0.0001	0.0006	0.0005	0.0008	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.669238	0.10356	N	0.800389	1	0.08975	N	-1.965	0.00208	N	3.47	0.05188	T	2.3	0.00290	N	0.073	0.04668	-0.9242	0.44971	T	0.004	0.01400	T	10	0.023367971	0.00609	T	0.003597	0.08247	T	0.020	0.03691	.	.	0.0138822411134	0.00435	0.039349780777525274	0.03880	0.476556053232	0.46784	0.38573127985	0.23066	T	8.47E-4	0.00419	T	-0.393817	0.02541	T	-0.803468	0.01817	T	0.0241366401129241	0.01162	T	0.355964	0.08087	T	0.018656062	0.00388	0.035673358	0.02864	0.018656062	0.00388	0.035673358	0.02864	-3.53	0.16854	T	.	.	0.052	0.00229	B	.	.	-0.168141	0.03258	0.553	0.17422420602941649	0.00507	0.00022	0.00232	N	AEFDGBI	0.010295	0.00071	N	-1.71298199410479	0.00797	0.03442833	-1.65818619241602	0.01334	0.06020819	3.46912396237003E-4	0.06626	0.553676	0.25195	0	0.588015	0.36545	0	0.527494	0.11647	0	0.620846	0.47308	0	.	.	2.8	0.122	0.14005	0.564000	0.23265	2.147000	0.30884	-0.332000	0.05765	0.000000	0.06391	0.138000	0.23065	0.003000	0.05239	0.0:0.2961:0.0:0.7039	5.063	0.13906	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	473.11	33	chr20	56533538	.	C	T	473.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.73;DP=2168;ExcessHet=0.1072;FS=12.339;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.29;MQRankSum=-1.655e+01;QD=0.64;ReadPosRankSum=-3.327e+00;SOR=2.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:354,34:388:99:0|1:56533531_T_C:362,0,14718:56533531	19	0	2	0
chr20	58854515	58854541	CAGCCGATCCTGACTCCGGGGCATTCG	-	exonic	GNAS	.	nonframeshift deletion	GNAS:NM_001077490:exon1:c.1063_1089del:p.L358_I366del	ACTH-independent macronodular adrenal hyperplasia, Isolated cases;Acromegaly, somatic;McCune-Albright syndrome, somatic, mosaic;Osseous heteroplasia, progressive, Autosomal dominant;Pseudohypoparathyroidism Ia, Autosomal dominant;Pseudohypoparathyroidism Ib, Autosomal dominant;Pseudohypoparathyroidism Ic, Autosomal dominant;Pseudopseudohypoparathyroidism, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1208443791	7.68e-06	7.534e-06	2.775e-06	1.265e-05	0.0002	4.12e-06	3.01e-06	3.12e-06	2.25e-06	0	0	0	0	0	0.0002	7.251e-06	1.684e-05	1.199e-05	6.674e-06	6.633e-06	1.304e-05	0	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1189.94	34	chr20	58854514	.	CCAGCCGATCCTGACTCCGGGGCATTCG	C	1189.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.264;DP=857;ExcessHet=0.0000;FS=6.450;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=0.094;SOR=1.355	GT:AD:DP:GQ:PL	0/1:76,37:113:99:1204,0,2981	20	0	1	0
chr20	59880392	59880392	A	G	exonic	SYCP2	.	nonsynonymous SNV	SYCP2:NM_014258:exon31:c.T2852C:p.I951T,	.	.	491	1010	19	2	0	23	0.011258	.	.	742490	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.873	P	0.523	P	0.116	N	0.676	D	1.905	M	1.99	T	-0.852	T	0.085	T	0.423	3.079	16.28	4.76	2.261	3.992	10.685	0.080	.	0.0023	0.00279553	0.0075	0.0028	0.0026	0.0002	0.0015	0.0053	0.0129	0.0242	0.004269	660	154602	rs151163205	0.0033	0.0033	0.0027	0.0039	0.0199	0.0032	0.0032	0.0191	0.0188	0.0018	0.0014	0.0110	2.54e-05	0.0011	0.0141	0.0021	0.0036	0.0199	0.0028	0.0028	0.0026	0.0029	0.0170	0.0026	0.0025	0.0140	0.0129	0.0020	0	0.0009	0.0118	0.0002	0.0008	0	0.0028	0.0024	0.0170	0.002	0.72154	D	0.089	0.40426	T	0.873	0.47975	P	0.523	0.48316	P	0.115937	0.19214	N	0.526307	0.675527	0.33183	D	2.36	0.67893	M	1.99	0.25996	T	-1.73	0.41428	N	0.549	0.57518	-0.8524	0.51802	T	0.085	0.33071	T	10	0.0054754317	0.00121	T	.	.	.	0.080	0.23350	.	.	0.198222871337	0.19423	0.1296067380900451	0.12885	0.181139919638	0.20371	0.383799672127	0.22794	T	0.325304	0.69603	T	-0.426602	0.01555	T	-0.370624	0.36816	T	0.0361782947290068	0.03013	T	0.759724	0.39899	T	0.17678405	0.38609	0.18749948	0.41986	0.17678405	0.38609	0.18749948	0.41985	-3.604	0.17915	T	.	.	0.366	0.65087	A	.;.;.	.;.;.	3.250656	0.44415	21.9	0.99779029259715812	0.86606	0.89916	0.50699	D	AEDI	0.323592	0.42573	N	0.398077559212782	0.61317	4.331235	0.410644987295162	0.62227	4.434644	0.00395175141296271	0.10355	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	4.76	0.60189	4.616000	0.60900	6.810000	0.56646	0.691000	0.84096	0.986000	0.36153	0.976000	0.30059	0.975000	0.56047	0.8401:0.1599:0.0:0.0	10.685	0.45037	994	0.00715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1752.11	36	chr20	59880392	.	A	G	1752.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.09;DP=830;ExcessHet=0.1072;FS=1.215;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=2.13;SOR=0.832	GT:AD:DP:GQ:PL	0/1:49,41:90:99:913,0,1160	19	0	2	0
chr20	64098130	64098130	A	G	exonic	OPRL1	.	nonsynonymous SNV	OPRL1:NM_001318854:exon2:c.A547G:p.M183V	.	.	.	.	.	.	.	.	.	.	.	2468683	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.704	P	0.388	B	0.000	D	1.000	D	0.69	N	-0.56	T	-0.541	T	0.243	T	0.548	3.313	17.14	5.0	1.901	4.387	14.743	0.431	0.0553943948061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.267	0.22561	T	0.704	0.41950	P	0.388	0.44086	B	0.000037	0.55875	D	0.189457	0.999934	0.51612	D	0.635	0.15989	N	-0.56	0.71187	T	-2.68	0.57275	D	0.462	0.49874	-0.5411	0.67121	T	0.243	0.61189	T	10	0.43161133	0.57527	T	0.055394	0.66218	D	0.431	0.73735	0.738	0.87063	0.541252434104	0.53778	0.5470517964135434	0.54631	0.742833598024	0.63358	0.629772782326	0.57113	T	0.476208	0.80693	T	0.02123	0.54546	T	-0.207281	0.53955	T	0.909753203392029	0.56476	D	0.694731	0.30434	T	0.5823357	0.71735	0.60042703	0.76787	0.5823357	0.71737	0.60042703	0.76788	-7.994	0.61030	D	.	.	0.342	0.56038	A	.;.;.	.;.;.	3.314476	0.45555	22.1	0.99456199907536524	0.65530	0.98657	0.85222	D	AEFGBI	0.709467	0.66354	D	0.0616396270851751	0.44679	2.737625	0.182563758151264	0.48893	3.099181	0.991445297901129	0.32491	0.623552	0.39893	0	0.588066	0.40923	0	0.602189	0.34648	0	0.579976	0.35079	0	.	.	5.0	5.0	0.66209	3.675000	0.54340	9.247000	0.79462	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.967000	0.53440	1.0:0.0:0.0:0.0	14.743	0.69087	.	.	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1763.98	36	chr20	64098130	.	A	G	1763.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.108e+00;DP=898;ExcessHet=0.0000;FS=10.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=-7.460e-01;SOR=0.405	GT:AD:DP:GQ:PL	0/1:108,70:178:99:1778,0,3213	20	0	1	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S,	.	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	1.0	D	0.937	D	.	.	1.000	N	1.445	L	1.66	T	-0.997	T	0.095	T	0.13	0.280	5.514	-0.732	-0.424	-1.528	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	80837.62	225	chr21	13610565	.	G	A	80837.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.08;DP=4336;ExcessHet=0.5132;FS=0.571;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=53.68;MQRankSum=-8.647e+00;QD=20.17;ReadPosRankSum=-1.350e-01;SOR=0.768	GT:AD:DP:GQ:PL	1/1:0,309:309:99:9652,927,0	6	6	9	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V,	.	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	P	-1.67	N	0.69	T	-1.046	T	0.001	T	0.1	-2.566	0.003	-2.58	-1.089	-2.921	5.628	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	59193.62	215	chr21	13610631	.	A	G	59193.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.130e-01;DP=3704;ExcessHet=0.5132;FS=4.353;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=48.41;MQRankSum=-1.386e+01;QD=17.52;ReadPosRankSum=0.974;SOR=1.008	GT:AD:DP:GQ:PL	1/1:0,252:252:99:7579,756,0	6	6	9	0
chr21	13620240	13620240	C	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon5:c.C1000A:p.Q334K,	.	.	.	.	.	.	.	.	.	.	.	2758032	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.67	T	0.259	B	0.149	B	0.467	N	1.000	N	0.33	N	0.09	T	-1.064	T	0.088	T	0.107	-0.414	2.068	-1.81	-0.643	-0.538	2.401	0.051	0.00819951725523	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1306059321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512	0.07449	T	0.771	0.17857	T	0.259	0.31472	B	0.149	0.34106	B	0.467246	0.04905	N	1.532860	1	0.08975	N	0.725	0.18768	N	0.09	0.61443	T	-1.5	0.36586	N	0.046	0.02759	-1.0643	0.10713	T	0.088	0.33885	T	10	0.0132237375	0.00281	T	0.008	0.21725	T	0.051	0.14325	.	.	0.082315109003	0.07666	0.03654948223251494	0.03601	.	.	0.850446879864	0.89682	D	0.012183	0.10755	T	-0.262188	0.12645	T	-0.614391	0.11630	T	0.018293679865082	0.00548	T	0.466353	0.13696	T	0.074623495	0.16760	0.039513443	0.04062	0.074623495	0.16759	0.039513443	0.04062	-3.887	0.22107	T	.	.	0.065	0.02012	B	.;.	.;.	-0.486180	0.01911	0.160	0.38259983441079382	0.02570	0.00245	0.01356	N	AEFI	0.024213	0.01464	N	-1.32089193754298	0.03437	0.1535123	-1.4542553663079	0.02732	0.1261825	2.13027276055481E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.906	-1.81	0.07456	-0.473000	0.06694	.	.	-1.876000	0.00547	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.0:0.4142:0.3246:0.2611	2.401	0.04132	.	.	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	536.98	44	chr21	13620240	.	C	A	536.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.688e+00;DP=922;ExcessHet=0.0000;FS=0.789;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=26.98;MQRankSum=-2.195e+00;QD=3.36;ReadPosRankSum=-4.830e-01;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,27:160:99:0|1:13620240_C_A:551,0,5111:13620240	20	0	1	0
chr21	13620259	13620259	C	T	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon5:c.C1019T:p.T340M,	.	.	593	926	3	0	0	3	0.00161725	.	.	2261281	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.403	B	0.026	B	0.766	N	1.000	N	3.395	M	-0.91	T	-0.612	T	0.368	T	0.284	-0.443	1.944	-0.047	-0.152	0.835	4.281	0.187	0.0127483285692	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1204719286	0.0004	0.0002	0.0005	0.0003	0.0006	0.0003	0.0003	0.0004	0.0003	0	0.0005	0	0	0.0003	0	0.0004	0.0007	0.0006	0.0003	0.0003	0.0003	0.0003	0.0008	0.0001	0.0001	0.0002	0.0001	0	0	0.0008	0	0	0	0	0.0004	0	0	0.024	0.47745	D	0.028	0.54934	D	0.403	0.34918	B	0.026	0.20792	B	0.765623	0.09587	N	0.811655	1	0.08975	N	3.355	0.91145	M	-0.91	0.75001	T	-3.01	0.62518	D	0.496	0.57006	-0.6119	0.64324	T	0.368	0.72818	T	10	0.011735231	0.00255	T	0.012748	0.31594	T	0.187	0.46274	.	.	0.102598925029	0.09809	0.239190598635957	0.23833	.	.	0.842837691307	0.88527	D	0.217771	0.58031	T	-0.0587683	0.43101	T	-0.322193	0.42334	T	0.0894977141757982	0.11158	T	0.506749	0.19458	T	0.048689965	0.08526	0.055683207	0.09811	0.048689965	0.08525	0.055683207	0.09811	-9.305	0.69638	D	.	.	0.116	0.30476	B	.;.	.;.	2.103264	0.26765	17.23	0.87038986664454721	0.16946	0.00834	0.03351	N	AEFI	0.027089	0.02151	N	-0.979138055021709	0.09050	0.426731	-1.21473015759257	0.05673	0.2709455	1.11878900533397E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.906	-0.0467	0.13175	1.120000	0.30885	.	.	-0.678000	0.04252	0.606000	0.27796	0.000000	0.08366	0.000000	0.00833	0.0:0.7365:0.0:0.2635	4.281	0.10279	.	.	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	429.98	44	chr21	13620259	.	C	T	429.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.22;DP=898;ExcessHet=0.0000;FS=2.167;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=27.62;MQRankSum=-1.892e+00;QD=3.12;ReadPosRankSum=1.34;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,20:138:99:0|1:13620240_C_A:444,0,4808:13620240	20	0	1	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V,	.	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.053	B	0.007	B	.	.	1.000	N	1.335	L	2.51	T	-0.946	T	0.021	T	0.32	0.122	4.658	2.1	0.975	1.396	3.884	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	43117.62	207	chr21	13641414	.	A	G	43117.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.110e+00;DP=2761;ExcessHet=0.5132;FS=0.565;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=58.03;MQRankSum=-1.526e+00;QD=17.27;ReadPosRankSum=0.159;SOR=0.606	GT:AD:DP:GQ:PL	1/1:0,221:221:99:6119,663,0	6	6	9	0
chr21	39511705	39511705	C	T	exonic	GET1-SH3BGR;SH3BGR	.	nonsynonymous SNV	SH3BGR:NM_001317740:exon5:c.C368T:p.A123V	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.003	B	0.001	B	0.863	N	0.999	N	0.695	N	1.81	T	-1.027	T	0.087	T	0.354	0.839	8.388	1.53	0.842	0.340	3.945	0.072	0.024152087836	.	.	0.0002	9.696e-05	8.657e-05	0	0.0003	0.0002	0	6.067e-05	0.0001358	21	154602	rs781284595	0.0001	0.0001	0.0001	0.0001	0.0013	0.0001	0.0001	0.0006	0.0004	2.995e-05	0.0001	0	2.524e-05	0.0002	0.0013	0.0001	9.955e-05	2.323e-05	0.0002	0.0002	0.0002	9.612e-05	0.0003	0.0001	8.869e-05	0.0002	0.0001	9.86e-05	0	0	0	0	9.675e-05	0	0.0003	0	0	0.0	0.91255	D	0.323	0.92824	T	0.003	0.11197	B	0.001	0.04355	B	0.862759	0.08882	N	0.919750	0.999635	0.21230	N	1.4	0.35362	L	0.85	0.57729	T	-0.8	0.39692	N	0.195	0.24135	-1.0270	0.21429	T	0.087	0.33802	T	10	0.04929939	0.14276	T	0.024152	0.47134	T	0.072	0.21020	0.235	0.16457	0.0716867268079	0.06686	0.15613225679464907	0.15534	0.0834565597848	0.09416	0.376034021378	0.21693	T	0.017894	0.16503	T	-0.356976	0.04304	T	-0.384105	0.35242	T	0.0602709385324624	0.07212	T	0.306369	0.11033	T	0.026174573	0.01642	0.030024435	0.01407	0.026174573	0.01642	0.030024435	0.01407	-4.801	0.35701	T	.	.	0.087	0.44910	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.505135	0.19345	14.22	0.64721896311489246	0.07572	0.23817	0.22197	N	AEFBI	0.046920	0.07844	N	-0.896749557448212	0.10918	0.5242411	-0.845385806202808	0.13399	0.6948462	0.130786786147718	0.17086	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	3.56	1.53	0.22224	0.349000	0.19801	0.220000	0.16063	-0.310000	0.06091	0.984000	0.35821	0.017000	0.20586	0.009000	0.08673	0.2324:0.6393:0.0:0.1283	3.945	0.08841	912	0.21483	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1841.98	33	chr21	39511705	.	C	T	1841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.304e+00;DP=842;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-1.314e+00;SOR=0.674	GT:AD:DP:GQ:PL	0/1:71,79:150:99:1856,0,1704	20	0	1	0
chr21	44540050	44540050	A	G	exonic	KRTAP10-1	.	nonsynonymous SNV	KRTAP10-1:NM_198691:exon1:c.T101C:p.L34P,	.	.	394	1111	15	2	0	19	0.00847836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	0.992	D	-3.29	N	3.64	T	-0.941	T	0.002	T	0.215	0.014	4.085	1.46	0.252	1.227	9.354	0.092	0.00846627927985	0.0007	0.00139776	0.0003	0.0018	0.0002	0.0002	0	0.0001	0	0.0004	0.0003234	50	154602	rs200714107	0.0002	0.0002	0.0002	0.0002	0.0034	0.0002	0.0001	0.0022	0.0018	0.0016	0.0004	3.83e-05	7.559e-05	3.746e-05	0.0034	7.106e-05	0.0006	0.0004	0.0006	0.0006	0.0005	0.0006	0.0014	0.0005	0.0004	0.0011	0.0010	0.0014	0	0.0008	0	0.0006	0	0	5.885e-05	0.0005	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.991638	0.41436	D	-3.62	0.00002	N	3.64	0.04309	T	7.96	0.00001	N	0.108	0.09349	-0.9407	0.42505	T	0.002	0.00676	T	9	0.009858936	0.00221	T	0.008466	0.22407	T	0.092	0.26621	.	.	0.128392430309	0.12331	0.027897884915079402	0.02739	0.245867236024	0.27115	0.236011475325	0.02442	T	0.002097	0.01499	T	-0.62718	0.00100	T	-0.680462	0.06956	T	0.0100642158073704	0.00135	T	0.029797	0.00186	T	0.04090728	0.05925	0.11921703	0.28775	0.04090728	0.05925	0.11921703	0.28775	4.206	0.00007	T	.	.	0.034	0.00003	B	.	.	-0.185480	0.03164	0.516	0.85015568218554582	0.15634	0.00140	0.00856	N	AEFBI	0.010431	0.00075	N	-1.67656812146517	0.00928	0.04019491	-1.44471585467828	0.02818	0.1303358	1.59635401701515E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	3.3	1.46	0.21769	0.412000	0.20852	2.252000	0.31695	-1.486000	0.01052	0.133000	0.23395	0.419000	0.24798	0.002000	0.04165	0.1223:0.0:0.8777:0.0	9.354	0.37320	970	0.06235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4020.11	37	chr21	44540050	.	A	G	4020.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.662e+00;DP=1245;ExcessHet=0.1072;FS=1.343;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.76;MQRankSum=0.00;QD=12.93;ReadPosRankSum=1.99;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:81,84:165:99:.:.:2214,0,2249	19	0	2	0
chr21	44550748	44550748	G	-	exonic	KRTAP10-2	.	frameshift deletion	KRTAP10-2:NM_198693:exon1:c.711delC:p.V238Cfs*108,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2787.94	34	chr21	44550747	.	CG	C	2787.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.290e-01;DP=1084;ExcessHet=0.0000;FS=6.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=0.720;SOR=0.409	GT:AD:DP:GQ:PL	0/1:102,99:201:99:2802,0,2815	20	0	1	0
chr21	44558616	44558616	T	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	99920.15	123	chr21	44558616	.	T	G,*	99920.15	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=0.718;DP=2610;ExcessHet=0.3300;FS=0.992;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.23;MQRankSum=-1.477e+00;QD=30.87;ReadPosRankSum=0.806;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,142,0:142:99:1|1:44558605_G_A:6387,427,0,6387,427,6387:44558605	0	17	3	0
chr21	44558620	44558620	G	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	97991.64	126	chr21	44558620	.	G	A,*	97991.64	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=1.53;DP=2612;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.24;MQRankSum=-8.900e-01;QD=32.40;ReadPosRankSum=0.868;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,138,0:138:99:1|1:44558605_G_A:6210,415,0,6210,415,6210:44558605	0	17	3	0
chr21	44592059	44592196	CTGGCAGCTAGACTGCTGGCAGCATGAAGAATCCCCACAGCAGACGGACACACAGCACACAGGCTTGCAGCAGACAGTCTTGCAGCAGACGGGCACGCAGCAGGCCTGCTGGCAGGGGGAGGAGGCACAGCAAGCCAG	-	exonic	KRTAP10-6	.	nonframeshift deletion	KRTAP10-6:NM_198688:exon1:c.289_426del:p.L97_Q142del,	.	.	413	1103	6	0	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0003	0.0003	0	0	0.0005	0	0.0002	.	.	.	.	0.0044	0.0043	0.0044	0.0044	0.0077	0.0043	0.0043	0.0058	0.0052	0.0019	0.0041	0.0017	2.62e-05	0.0025	0.0077	0.0048	0.0051	0.0031	0.0037	0.0033	0.0040	0.0034	0.0057	0.0034	0.0033	0.0052	0.0050	0.0018	0	0.0026	0.0010	0.0003	0.0018	0	0.0057	0.0061	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1818.94	36	chr21	44592058	.	ACTGGCAGCTAGACTGCTGGCAGCATGAAGAATCCCCACAGCAGACGGACACACAGCACACAGGCTTGCAGCAGACAGTCTTGCAGCAGACGGGCACGCAGCAGGCCTGCTGGCAGGGGGAGGAGGCACAGCAAGCCAG	A	1818.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.201;DP=2448;ExcessHet=0.0000;FS=10.329;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.83;MQRankSum=3.90;QD=9.89;ReadPosRankSum=-7.551e+00;SOR=0.270	GT:AD:DP:GQ:PL	0/1:62,122:184:99:1833,0,2258	20	0	1	0
chr21	44592106	44592106	A	0	exonic	KRTAP10-6	.	.	.	.	.	444	939	103	35	1	174	0.0843491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	4312.68	36	chr21	44592106	.	A	G,*	4312.68	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=7.63;DP=2486;ExcessHet=0.9430;FS=27.882;InbreedingCoeff=0.0102;MLEAC=8,1;MLEAF=0.190,0.024;MQ=47.62;MQRankSum=-8.105e+00;QD=2.89;ReadPosRankSum=-1.139e+00;SOR=2.591	GT:AD:DP:GQ:PL	1/2:0,28,119:147:99:2807,1996,1913,884,0,1197	13	0	7	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	11119.76	311	chr21	44637708	.	TGTCTGCTGTGTGCCC	T,*	11119.76	.	AC=2,21;AF=0.050,0.525;AN=40;DP=7560;ExcessHet=2.9564;FS=0.000;InbreedingCoeff=-0.1019;MLEAC=2,22;MLEAF=0.050,0.550;MQ=59.91;QD=2.06;SOR=0.752	GT:AD:DP:GQ:PL	2/2:1,0,363:364:99:16074,16238,17157,1080,1223,0	3	1	0	1
chr21	44967094	44967094	C	T	exonic	FAM207A	.	nonsynonymous SNV	FAM207A:NM_001316983:exon4:c.C413T:p.T138M	.	.	366	1152	4	0	0	4	0.0017331	.	.	3333288	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.934	P	0.255	B	0.000	N	0.988	D	1.735	L	0.85	T	-1.038	T	0.094	T	0.174	0.291	5.576	2.68	1.051	0.814	7.445	0.078	0.0211680988518	0.0014	0.000199681	0.0009	0.0005	0.0002	0	0	0.0013	0.0013	0.0006	0.0002911	45	154602	rs138283625	0.0019	0.0019	0.0019	0.0018	0.0043	0.0018	0.0018	0.0028	0.0024	0.0004	0.0007	0.0009	2.52e-05	1.884e-05	0.0043	0.0022	0.0026	0.0006	0.0010	0.0010	0.0012	0.0009	0.0018	0.0009	0.0008	0.0016	0.0015	0.0003	0	0.0006	0.0003	0	9.407e-05	0	0.0018	0.0019	0.0004	0.129	0.32610	T	0.197	0.32891	T	0.934	0.52202	P	0.255	0.39216	B	0.000003	0.62929	N	0.059474	0.988275	0.40734	D	2.035	0.55589	M	0.85	0.47130	T	-3.65	0.74269	D	0.28	0.31702	-1.0377	0.18016	T	0.094	0.35524	T	10	0.024898946	0.00702	T	0.021168	0.43897	T	0.078	0.22779	.	.	0.685393914239	0.68270	0.3267124357095813	0.32584	0.454083579922	0.45095	0.680935502052	0.64402	T	0.158316	0.52562	T	-0.520703	0.00436	T	-0.525346	0.19754	T	0.0334517492139783	0.02546	T	0.762924	0.49049	T	0.05781052	0.11553	0.083620146	0.19176	0.05781052	0.11553	0.083620146	0.19175	-6.272	0.48500	T	.	.	0.099	0.27192	B	.;.;.	.;.;.	1.661868	0.21196	15.09	0.96322507665583268	0.29420	0.43610	0.27136	N	AEFBI	0.049230	0.08484	N	-0.194595407981703	0.33359	1.891668	-0.280327452708255	0.28746	1.605198	0.999861973287317	0.44398	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.58	2.68	0.30839	0.739000	0.25841	-0.069000	0.12322	0.599000	0.40250	0.013000	0.18845	0.001000	0.17328	0.077000	0.17074	0.0:0.8792:0.0:0.1208	7.445	0.26376	862	0.33134	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1093.15	34	chr21	44967094	.	C	T	1093.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.048;DP=766;ExcessHet=0.0000;FS=0.716;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.024;MQ=59.45;MQRankSum=1.55;QD=9.94;ReadPosRankSum=-5.090e-01;SOR=0.591	GT:AD:DP:GQ:PL	0/1:62,48:110:99:1107,0,1497	20	0	1	0
chr21	46125997	46125997	G	A	exonic	COL6A2	.	nonsynonymous SNV	COL6A2:NM_001849:exon26:c.G2182A:p.V728M	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	0	1515	5	2	0	9	0.0029615	.	.	266447	Collagen_6-related_myopathy|not_provided|Myosclerosis|Bethlem_myopathy_1A|not_specified	MONDO:MONDO:0100225,MedGen:CN117976|MedGen:C3661900|MONDO:MONDO:0009714,MedGen:C1850671,OMIM:255600,Orphanet:289380|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.375	M	-1.68	D	0.598	D	0.710	D	0.924	2.559	14.52	4.05	1.808	6.521	16.211	0.754	0.641524751336	7.7e-05	0.000199681	0.0003	0	0.0003	0	0	0.0004	0.0011	0.0002	0.0002458	38	154602	rs200585528	0.0002	0.0002	0.0002	0.0002	0.0061	0.0002	0.0002	0.0045	0.0039	8.962e-05	0.0007	0.0038	0	0	0.0061	0.0001	0.0004	0.0002	0.0005	0.0005	0.0004	0.0006	0.0029	0.0004	0.0004	0.0022	0.0020	0	0	0.0029	0.0037	0	0	0.0034	0.0002	0.0014	0.0002	0.006	0.63226	D	0.01	0.65728	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.51	0.73131	M	-1.68	0.82897	D	-1.21	0.30762	N	0.578	0.61341	0.598	0.91872	D	0.710	0.90046	D	10	0.104599	0.19293	T	0.641525	0.96946	D	0.754	0.91583	.	.	0.95936864261	0.95893	0.9357092783694257	0.93550	0.612704788932	0.55857	0.732289552689	0.71840	T	0.392785	0.75236	T	0.131708	0.67528	D	0.333381	0.89648	D	0.0734661221504211	0.09129	T	0.918008	0.70480	D	0.40928945	0.61370	0.3452451	0.60210	0.3787662	0.59227	0.30654034	0.56677	-10.307	0.75729	D	0.7183434190759482	0.79923	0.406	0.68185	A	.;.;.;.	.;.;.;.	4.280629	0.65203	24.8	0.99565320671440971	0.72014	0.95525	0.65068	D	AEFBCI	0.895624	0.83584	D	0.603122607862829	0.73371	5.955353	0.504238713169786	0.68274	5.197656	0.999999996059892	0.74766	0.695654	0.57023	0	0.626922	0.53725	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.05	4.05	0.46415	6.726000	0.74566	7.369000	0.58386	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.712000	0.34516	0.0:0.0:1.0:0.0	16.211	0.81984	976	0.04745	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	4676.98	170	chr21	46125997	.	G	A	4676.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.06;DP=1822;ExcessHet=0.0000;FS=2.774;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.86;ReadPosRankSum=-3.820e-01;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,122:248:99:0|1:46125997_G_A:4691,0,4845:46125997	20	0	1	0
chr21	46287125	46287125	-	A	splicing	YBEY	NM_001314026:exon2:c.210+2->A;NM_001006114:exon2:c.210+2->A;NM_001314022:exon2:c.210+2->A;NM_001314025:exon2:c.210+2->A;NM_058181:exon2:c.210+2->A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs530846715	0.0005	0.0032	0.0004	0.0005	0.0018	0.0004	0.0004	0.0014	0.0012	0.0018	0.0010	0.0006	0.0015	0.0004	0.0012	0.0003	0.0005	0.0012	0.0005	0.0005	0.0004	0.0005	0.0013	0.0004	0.0003	0.0010	0.0009	0.0012	0	6.661e-05	0	0.0008	0.0002	0	7.419e-05	0.0005	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8455.27	32	chr21	46287125	.	T	TAAAAAA,TAAAAA,TA	8455.27	.	AC=7,7,1;AF=0.167,0.167,0.024;AN=42;BaseQRankSum=-1.320e+00;DP=957;ExcessHet=0.1361;FS=1.223;InbreedingCoeff=0.2741;MLEAC=7,7,1;MLEAF=0.167,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=21.35;ReadPosRankSum=-9.300e-02;SOR=0.767	GT:AD:DP:GQ:PL	1/2:0,22,10,0:32:99:1434,221,117,520,0,417,1126,218,514,1033	10	0	3	0
chr22	18910907	18910907	G	A	exonic	DGCR6;LOC102724770	.	nonsynonymous SNV	LOC102724770:NM_001368242:exon4:c.G392A:p.R131H	.	.	390	1113	19	0	0	19	0.00846325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.007	B	0.003	B	0.002	N	1.000	N	1.935	M	1.37	T	-0.987	T	0.082	T	0.124	1.101	9.492	3.3	1.196	1.103	7.057	0.056	0.0105053527987	0.0027	0.00199681	0.0030	0.0009	0.0009	0	0.0003	0.0030	0.0012	0.0085	0.0028913	447	154602	rs146390355	0	1.404e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	7.751e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.098	0.30800	T	0.08	0.41913	T	0.007	0.14184	B	0.003	0.08700	B	0.001677	0.38326	N	0.191517	1	0.81001	D	1.18	0.29980	L	1.37	0.34253	T	-1.11	0.28703	N	0.259	0.29313	-0.9872	0.33298	T	0.082	0.32207	T	10	0.009690225	0.00218	T	0.010505	0.27109	T	0.056	0.15993	.	.	0.327419511103	0.32360	0.31422203859618847	0.31335	0.12429683606	0.13995	0.308053433895	0.11613	T	0.027211	0.19978	T	-0.582909	0.00185	T	-0.605379	0.12364	T	0.00409035813683274	0.00043	T	0.746025	0.36642	T	0.078310326	0.17826	0.038941365	0.03875	0.078310326	0.17826	0.038941365	0.03875	-5.936	0.45741	T	.	.	0.086	0.16099	B	.;.	.;.	2.713271	0.35474	19.91	0.98955440178866994	0.49227	0.33121	0.24751	N	AEFDGBCI	0.414293	0.48362	N	-0.679744952707117	0.16601	0.8471877	-0.651862005858927	0.18170	0.9694404	0.0834855360864476	0.15929	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	4.31	3.3	0.36912	0.303000	0.18965	2.177000	0.31099	-0.750000	0.03597	0.000000	0.06391	0.992000	0.31684	0.147000	0.20199	0.2057:0.0:0.7943:0.0	7.057	0.24285	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1496.98	36	chr22	18910907	.	G	A	1496.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.63;DP=811;ExcessHet=0.0000;FS=1.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.99;MQRankSum=-1.387e+00;QD=13.02;ReadPosRankSum=-5.090e-01;SOR=0.924	GT:AD:DP:GQ:PL	0/1:59,56:115:99:1511,0,1338	20	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R	.	.	0	170	630	722	0	2074	0.859155	.	.	1159081	Proline_dehydrogenase_deficiency	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.094	N	0.999	P	.	.	-0.92	T	-0.991	T	0.000	T	0.068	-1.216	0.065	2.88	0.250	3.683	6.438	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.6905	64105.31	193	chr22	18925165	.	A	G	64105.31	.	AC=29;AF=0.690;AN=42;BaseQRankSum=-1.553e+00;DP=3080;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=29;MLEAF=0.690;MQ=60.00;MQRankSum=0.00;QD=22.15;ReadPosRankSum=0.574;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:100,95:195:99:.:.:2277,0,2460	3	11	7	0
chr22	19150076	19150076	-	GCAGCA	exonic	GSC2	.	nonframeshift insertion	GSC2:NM_005315:exon1:c.207_208insTGCTGC:p.C70_G71insCC,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	116.43	3	chr22	19150073	.	CGCA	CGCAGCAGCA,C	116.43	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.00;DP=186;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0625;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=9.70;ReadPosRankSum=1.38;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:7,0,2:9:63:.:.:63,84,378,0,294,288	19	0	1	0
chr22	19150074	19150076	GCA	-	exonic	GSC2	.	nonframeshift deletion	GSC2:NM_005315:exon1:c.208_210del:p.C70del,	.	.	523	992	7	0	0	7	0.00351582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1349295016	0.0003	0.0037	0.0003	0.0003	0.0022	0.0003	0.0003	0.0012	0.0009	0.0004	0.0006	0.0005	0.0022	0.0069	0	0.0003	0.0002	5.793e-05	2.726e-05	0.0002	2.656e-05	2.799e-05	3.034e-05	8.37e-06	5.29e-06	5.03e-06	1.88e-06	0	0	0	0	0	0.0001	0.0034	3.034e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	116.43	3	chr22	19150073	.	CGCA	CGCAGCAGCA,C	116.43	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.00;DP=186;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0625;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=9.70;ReadPosRankSum=1.38;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:7,0,2:9:63:.:.:63,84,378,0,294,288	19	0	1	0
chr22	19210438	19210438	C	T	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon20:c.G3137A:p.R1046H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.167	B	0.125	B	0.000	N	1.000	D	3.105	M	1.87	T	-0.986	T	0.096	T	0.59	3.037	16.13	1.66	0.289	4.175	9.768	0.177	0.00472832895617	.	0.000199681	2.485e-05	0	8.651e-05	0	0	0	0	0.0001	2.59e-05	4	154602	rs191966359	6.841e-06	6.84e-06	6.807e-06	6.876e-06	0.0002	3.46e-06	2.52e-06	9.89e-06	4.56e-06	5.974e-05	0	0	2.519e-05	0	0.0002	1.799e-06	1.656e-05	3.478e-05	1.313e-05	1.312e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.538e-05	0	0.0002	0	0	0	0	0	0.021	0.49117	D	0.041	0.50514	D	0.167	0.28604	B	0.125	0.32635	B	0.000038	0.55875	N	0.070633	0.999941	0.51968	D	3.57	0.93460	H	1.87	0.24085	T	-4.05	0.74504	D	0.447	0.48504	-0.9858	0.33639	T	0.096	0.36185	T	10	0.14775497	0.27992	T	0.004728	0.11784	T	0.177	0.44549	.	.	0.36355261348	0.35965	0.49583971540449673	0.49504	.	.	0.350429713726	0.17985	T	0.263487	0.63518	T	-0.15124	0.28119	T	-0.273495	0.47466	T	0.859810888767242	0.51033	D	0.924208	0.72277	D	0.1695623	0.37480	0.14336368	0.34073	0.1695623	0.37480	0.14336368	0.34072	-8.529	0.66296	D	0.8082558539851691	0.88371	0.069	0.03231	B	.;.	.;.	2.815862	0.37082	20.4	0.9978626554032094	0.87219	0.80952	0.40462	D	AEFBHI	0.421201	0.48772	N	-0.0726844237330039	0.38594	2.26278	-0.0900721905978214	0.35799	2.075505	0.999889984944582	0.44867	0.661447	0.50134	0	0.563428	0.19063	0	0.644132	0.48003	0	0.635551	0.53088	0	.	.	3.81	1.66	0.23081	4.391000	0.59415	-0.139000	0.11537	0.599000	0.40250	1.000000	0.71638	0.024000	0.20971	0.693000	0.33928	0.0:0.8273:0.0:0.1727	9.768	0.39737	763	0.50172	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1036.98	35	chr22	19210438	.	C	T	1036.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.90;DP=1108;ExcessHet=0.0000;FS=0.754;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=-1.820e+00;SOR=0.812	GT:AD:DP:GQ:PL	0/1:63,41:104:99:1051,0,1481	20	0	1	0
chr22	20242477	20242477	G	A	exonic	RTN4R	.	nonsynonymous SNV	RTN4R:NM_023004:exon2:c.C656T:p.P219L,	.	.	.	.	.	.	.	.	.	.	.	2779541	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.997	D	0.867	P	0.060	N	1.000	N	1.66	L	4.1	T	-1.005	T	0.115	T	0.58	1.394	10.59	3.35	1.200	0.918	5.986	0.020	0.0257947881535	.	.	3.327e-05	0	0	0.0001	0	3.034e-05	0	6.058e-05	2.59e-05	4	154602	rs777345223	1.163e-05	1.163e-05	4.085e-06	1.926e-05	0.0003	7.09e-06	5.79e-06	6.092e-05	2.521e-05	5.974e-05	0	0	5.038e-05	0	0.0003	6.295e-06	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.33091	T	0.141	0.33442	T	0.997	0.70673	D	0.867	0.61644	P	0.060226	0.22264	N	0.232414	0.999999	0.08975	N	1.915	0.51223	L	4.1	0.02944	T	-3.28	0.65627	D	0.457	0.49420	-1.0050	0.28457	T	0.115	0.40786	T	10	0.40564752	0.55873	T	0.025795	0.48750	D	0.097	0.27909	0.467	0.53891	0.465451373931	0.46169	0.954268198552868	0.95410	1.10540808007	0.77880	0.529132008553	0.42912	T	0.604766	0.87385	D	-0.260326	0.12862	T	-0.430189	0.29913	T	0.320815145969391	0.25855	T	0.863014	0.55864	D	0.19320516	0.41021	0.11871375	0.28655	0.19320516	0.41021	0.11871375	0.28654	-8.025	0.61241	D	.	.	0.179	0.38977	B	.	.	3.644556	0.51696	23.1	0.99328866375087876	0.59700	0.55995	0.30004	D	AEFDGBI	0.179359	0.30665	N	-0.274746625243033	0.30126	1.676972	-0.368379093571796	0.25946	1.430026	0.999996585962214	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.36	3.35	0.37468	0.543000	0.22945	5.742000	0.49579	0.676000	0.76740	0.216000	0.24491	1.000000	0.68203	0.001000	0.02609	0.1045:0.1947:0.7008:0.0	5.986	0.18664	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	7950.08	34	chr22	20242477	.	G	A	7950.08	.	AC=2;AF=0.048;AN=42;DP=980;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.30;SOR=0.774	GT:AD:DP:GQ:PL	1/1:0,254:254:99:7978,762,0	20	1	0	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S,	.	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	738.84	17	chr22	21216084	.	C	T	738.84	.	AC=9;AF=0.250;AN=36;BaseQRankSum=2.32;DP=347;ExcessHet=5.0238;FS=1.528;InbreedingCoeff=-0.3403;MLEAC=10;MLEAF=0.278;MQ=43.88;MQRankSum=-1.754e+00;QD=5.43;ReadPosRankSum=0.080;SOR=0.771	GT:AD:DP:GQ:PL	0/1:13,3:16:58:58,0,325	9	0	9	3
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	.	25	583	905	9	0	923	0.441838	.	.	1196252	not_provided|Chronic_myelogenous_leukemia,_BCR-ABL1_positive	MedGen:C3661900|Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	9572.82	36	chr22	23311788	.	T	TCCGG	9572.82	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.511;DP=1943;ExcessHet=20.9642;FS=19.140;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=55.14;MQRankSum=-7.359e+00;QD=5.78;ReadPosRankSum=0.550;SOR=1.916	GT:AD:DP:GQ:PL	0/1:104,18:122:99:422,0,4293	5	0	16	0
chr22	24005337	24005337	A	G	exonic	GSTT4	.	nonsynonymous SNV	GSTT4:NM_001358664:exon1:c.T20C:p.M7T,	.	.	1048	473	1	0	0	1	0.00105597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs187966172	0.0024	0.0003	0	0.0035	0.0045	0.0006	0.0003	0.0012	0.0006	0	0	0	0	0	0	0.0045	0	0	0.0028	0.0029	0.0031	0.0025	0.0049	0.0026	0.0025	0.0044	0.0043	0.0007	0.0099	0.0014	0.0075	0	0.0002	0	0.0049	0.0043	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02337423	0.00610	T	.	.	.	.	.	.	.	.	.	0.42464368756574467	0.42381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.768323	0.39714	T	0.35330975	0.57323	0.55831456	0.74449	0.35330975	0.57323	0.55831456	0.74449	-5.644	0.43192	T	.	.	0.570	0.67652	P	.	.	3.573741	0.50344	22.9	0.83747012877705418	0.14897	0.86163	0.45392	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.98206085151097	0.30347	0.056701	0.00814	0	0.063388	0.01293	0	0.074216	0.02223	0	0.062806	0.01542	0	0.690956	0.42634	3.37	3.37	0.37692	7.378000	0.78957	8.462000	0.77247	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	8.784	0.33966	929	0.16858	Glutathione S-transferase, N-terminal|Glutathione S-transferase, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	121.63	1	chr22	24005337	.	A	G	121.63	.	AC=2;AF=0.059;AN=34;DP=152;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2695;MLEAC=2;MLEAF=0.059;MQ=60.00;QD=24.33;SOR=1.981	GT:AD:DP:GQ:PL	1/1:0,5:5:15:142,15,0	16	1	0	4
chr22	24627492	24627492	G	C	exonic	GGT1	.	nonsynonymous SNV	GGT1:NM_001288833:exon12:c.G1081C:p.D361H	.	.	484	1028	10	0	0	10	0.00484027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.022	B	0.038	B	0.013	N	0.870	N	2.46	M	3.23	T	-1.047	T	0.007	T	0.307	0.477	6.591	-2.55	-0.295	0.359	8.953	0.074	0.00463185229169	.	.	0.0015	0.0004	0.0006	0.0028	0.0017	0.0012	0.0012	0.0030	2.59e-05	4	154602	rs138813205	0.0008	0.0080	0.0009	0.0008	0.0031	0.0008	0.0008	0.0027	0.0025	0.0003	0.0003	0.0002	0.0031	0.0006	0.0020	0.0008	0.0006	0.0011	0.0005	0.0037	0.0004	0.0005	0.0032	0.0004	0.0004	0.0020	0.0016	0.0002	0	0.0008	0.0006	0.0032	0.0005	0	0.0003	0.0010	0.0011	0.096	0.33585	T	0.083	0.41742	T	0.022	0.18677	B	0.038	0.23361	B	0.013305	0.28882	N	0.371845	0.870324	0.28217	N	2.555	0.74557	M	3.23	0.06931	T	-2.69	0.66206	D	0.264	0.30687	-1.0468	0.15303	T	0.007	0.02244	T	10	0.014272571	0.00300	T	0.004632	0.11472	T	0.074	0.21613	.	.	0.371018649785	0.36716	0.7177899153227354	0.73515	.	.	0.353228211403	0.18396	T	0.192802	0.54807	T	-0.52012	0.00439	T	-0.54452	0.17854	T	0.0244383726557327	0.01201	T	0.693531	0.31558	T	0.19034185	0.40614	0.17017967	0.39108	0.19034185	0.40614	0.17017967	0.39107	-4.089	0.72383	T	.	.	0.132	0.36811	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.222323	0.06044	2.487	0.86706646259638886	0.16718	0.15411	0.18898	N	AEFI	0.132405	0.25170	N	-0.929364960210129	0.10160	0.4841884	-1.08195479199769	0.08055	0.3944424	3.54104776859269E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.4	-2.55	0.05922	0.434000	0.21212	-0.246000	0.10547	0.597000	0.34315	0.070000	0.22072	0.000000	0.08366	0.279000	0.23992	0.6006:0.0:0.3994:0.0	8.953	0.34959	680	0.59965	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	288.98	36	chr22	24627492	.	G	C	288.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.780e-01;DP=1011;ExcessHet=0.0000;FS=4.875;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.21;MQRankSum=-5.521e+00;QD=1.61;ReadPosRankSum=3.33;SOR=0.411	GT:AD:DP:GQ:PL	0/1:145,34:179:99:303,0,3407	20	0	1	0
chr22	25952307	25952307	A	G	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon38:c.A5857G:p.I1953V	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	.	425	1093	4	0	0	4	0.00182648	.	.	1152928	Klippel-Feil_anomaly-myopathy-facial_dysmorphism_syndrome|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0014689,MedGen:C4225285,OMIM:616549,Orphanet:447974|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.75	T	0.011	B	0.018	B	0.013	N	0.996	N	-0.235	N	-2.26	D	-0.855	T	0.265	T	0.058	1.586	11.26	0.585	0.370	0.445	5.776	0.097	0.0601588970942	.	.	0.0003	0	0.0010	0	0	0.0003	0.0014	0	0.0001876	29	154602	rs202126120	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	9.522e-05	0.0004	0.0003	8.969e-05	0.0005	0	0	0	0.0005	0.0001	0.0002	8.202e-05	0.0001	0.0001	0.0002	8.072e-05	0.0003	8.171e-05	6.727e-05	0.0001	8.294e-05	4.826e-05	0	0.0003	0	0	0	0.0064	0.0001	0.0010	0	0.575	0.06086	T	0.642	0.06925	T	0.007	0.14184	B	0.008	0.13708	B	0.012668	0.29095	N	0.287305	0.995874	0.23177	N	0.535	0.13693	N	-2.26	0.87512	D	-0.28	0.11547	N	0.095	0.10056	-0.8549	0.51627	T	0.265	0.63577	T	10	0.023364544	0.00609	T	0.060159	0.67909	D	0.097	0.27909	.	.	0.631150896671	0.62813	0.15295321348879437	0.15217	0.0608350649854	0.06768	0.40795391798	0.26173	T	0.033791	0.23059	T	-0.402707	0.02223	T	-0.457656	0.26856	T	0.00908260405267949	0.00114	T	0.574643	0.20620	T	0.028973827	0.02319	0.032468334	0.01988	0.028973827	0.02318	0.032468334	0.01988	-3.815	0.21029	T	.	.	0.079	0.07412	B	.;.;.	.;.;.	1.034824	0.14151	10.73	0.96609286445517839	0.30437	0.06662	0.12681	N	AEFDGBHI	0.062679	0.12063	N	-0.872146099519434	0.11509	0.555755	-0.729856301725109	0.16219	0.8569486	0.999605446923183	0.40866	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.49	0.585	0.16611	0.459000	0.21619	1.694000	0.28089	0.731000	0.85647	0.002000	0.15269	0.310000	0.24267	0.705000	0.34296	0.5577:0.1368:0.3055:0.0	5.776	0.17547	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.04762	4487.08	40	chr22	25952307	.	A	G	4487.08	.	AC=2;AF=0.048;AN=42;DP=860;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.95;SOR=0.873	GT:AD:DP:GQ:PL	1/1:0,155:155:99:4515,464,0	20	1	0	0
chr22	27983494	27983494	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6173C:p.G2058A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.999	D	0.996	D	0.001	D	1.000	D	1.1	L	-3.55	D	0.873	D	0.854	D	0.534	3.865	19.64	4.62	2.497	5.622	17.344	0.409	0.092232836446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.158e-06	1.3e-05	4.259e-06	0	2.79e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.79e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.382	0.15890	T	0.999	0.77913	D	0.996	0.84481	D	0.000562	0.43250	D	0.231958	0.999998	0.58761	D	2.005	0.54552	M	-3.55	0.94834	D	-1.3	0.32590	N	0.603	0.62103	0.873	0.95310	D	0.854	0.95149	D	10	0.3825744	0.54304	T	0.092233	0.75853	D	0.409	0.72099	0.19	0.10039	0.813956147583	0.81220	0.39497344297316855	0.39412	.	.	0.577225387096	0.49695	T	0.029009	0.20885	T	0.212969	0.75111	D	0.0681383	0.74787	D	0.896070539951324	0.54772	D	0.984702	0.94722	D	0.313312	0.54071	0.39437744	0.64133	0.313312	0.54071	0.39437744	0.64133	-2.954	0.09694	T	.	.	0.597	0.68768	P	.;.	.;.	4.504296	0.70476	25.5	0.99803016321568272	0.88728	0.97027	0.72267	D	AEFDBI	0.627685	0.61005	D	0.584171606304849	0.72186	5.766284	0.570052008804894	0.72802	5.867747	0.999999815894828	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	4.62	0.56946	5.680000	0.67831	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.344	0.87192	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2333	768.61	106	chr22	27983494	.	C	G	768.61	.	AC=7;AF=0.233;AN=30;BaseQRankSum=-3.655e+00;DP=1981;ExcessHet=2.5830;FS=182.420;InbreedingCoeff=-0.3157;MLEAC=9;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=1.25;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,18:109:99:0|1:27983493_C_G:168,0,3331:27983493	8	0	7	6
chr22	27983495	27983495	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6172C:p.G2058R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.001	N	1.000	D	1.1	L	-3.6	D	0.805	D	0.837	D	0.769	4.020	20.6	3.6	1.253	7.418	12.290	0.600	0.158398177192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.157e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.027	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000562	0.43250	N	0.231958	0.999999	0.58761	D	2.005	0.54552	M	-3.6	0.95009	D	-2.8	0.59226	D	0.789	0.78546	0.805	0.94474	D	0.837	0.94553	D	10	0.61998546	0.67922	D	0.158398	0.83880	D	0.600	0.84183	0.239	0.17065	0.750618531641	0.74836	0.5121720383386701	0.51139	.	.	0.657954216003	0.61117	T	0.095784	0.39692	T	0.353062	0.86712	D	0.269372	0.86538	D	0.99226039648056	0.82702	D	0.987934	0.95926	D	0.3778262	0.59159	0.5174505	0.72120	0.3778262	0.59159	0.5174505	0.72120	-4.333	0.28637	T	.	.	0.962	0.88285	P	.;.	.;.	4.774876	0.77330	26.7	0.9991599844056599	0.98379	0.99519	0.96998	D	AEFDBI	0.922723	0.89811	D	0.528874973212774	0.68806	5.26799	0.494853380951096	0.67649	5.112284	0.99999983332082	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	3.6	0.40374	7.481000	0.80171	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9161:0.0:0.0839	12.290	0.54132	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4375	796.84	106	chr22	27983495	.	C	G	796.84	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-2.082e+00;DP=1886;ExcessHet=2.5830;FS=182.420;InbreedingCoeff=-0.4724;MLEAC=12;MLEAF=0.750;MQ=60.00;MQRankSum=0.00;QD=1.07;ReadPosRankSum=1.34;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,18:109:99:0|1:27983493_C_G:168,0,3331:27983493	1	0	7	13
chr22	32498507	32498507	G	C	exonic	FBXO7	.	nonsynonymous SNV	FBXO7:NM_001033024:exon9:c.G1309C:p.D437H	Parkinson disease 15, autosomal recessive, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	438226	not_provided|FBXO7-related_disorder|Parkinsonian-pyramidal_syndrome	MedGen:C3661900|.|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300,Orphanet:171695	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.983	D	0.000	D	1.000	D	2.515	M	-0.62	T	0.367	D	0.668	D	0.947	3.100	16.35	6.03	2.861	7.159	20.557	0.551	0.0605068594353	0.0018	0.000399361	0.0016	0	0.0003	0	0.0050	0.0020	0	0.0012	0.0015394	238	154602	rs34316445	0.0019	0.0019	0.0019	0.0019	0.0020	0.0019	0.0018	0.0019	0.0019	0.0003	0.0005	0.0035	0	0.0041	0.0003	0.0020	0.0021	0.0015	0.0014	0.0014	0.0012	0.0016	0.0022	0.0012	0.0012	0.0019	0.0018	9.623e-05	0	0.0005	0.0037	0	0.0029	0	0.0022	0.0005	0.0015	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.973	0.75793	D	0.000000	0.84330	D	0.042471	1	0.81001	D	2.42	0.70002	M	-1.2	0.78537	T	-2.79	0.59059	D	0.909	0.93959	0.367	0.88600	D	0.668	0.88482	D	10	0.07656184	0.11976	T	0.060507	0.68023	D	0.551	0.81427	.	.	0.963964725045	0.96357	0.8000140078962561	0.79955	0.182453154757	0.20506	0.435513347387	0.29964	T	0.302706	0.67509	T	0.0674395	0.60536	T	0.318238	0.89017	D	0.0553437003452605	0.06414	T	0.923708	0.72135	D	0.4803113	0.65919	0.5031758	0.71281	0.49775705	0.66964	0.49925646	0.71049	-3.017	0.12591	T	0.5898119248325742	0.65660	0.322	0.54631	B	.;.;.	.;.;.	4.068829	0.60437	24.2	0.99361622847171815	0.61029	0.99214	0.92914	D	AEFBI	0.893372	0.83125	D	0.694809084222641	0.79291	7.047053	0.604477471008964	0.75265	6.279995	0.999994764465222	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	7.272000	0.77907	10.004000	0.83058	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.264000	0.23619	0.0:0.0:1.0:0.0	20.557	0.99307	593	0.68665	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1949.98	34	chr22	32498507	.	G	C	1949.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.710e-01;DP=869;ExcessHet=0.0000;FS=2.626;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-1.449e+00;SOR=0.504	GT:AD:DP:GQ:PL	0/1:102,81:183:99:1964,0,2685	20	0	1	0
chr22	36265782	36265782	G	T	exonic	APOL1	.	stopgain	APOL1:NM_001136541:exon5:c.G892T:p.E298X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	0.618	N	1.000	D	.	.	.	.	.	.	.	.	.	3.773	19.16	-2.28	-0.449	-1.035	3.413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617745	0.05738	N	1.200530	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.79	0.78737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299787	0.82950	D	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant;.	.;.;.;High;.	5.111238	0.85445	28.6	0.94747486642744438	0.25445	0.01550	0.05082	N	AEFDBI	0.051060	0.08984	N	-0.28464942149091	0.29742	1.651984	-0.709861734847565	0.16715	0.8855342	0.64071294737418	0.22051	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	-2.28	0.06438	-1.743000	0.01933	-20.000000	0.00162	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4028:0.0:0.402:0.1951	3.413	0.06937	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1905	3603.9	128	chr22	36265782	.	G	T	3603.9	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-2.811e+00;DP=3016;ExcessHet=3.5521;FS=129.024;InbreedingCoeff=-0.2353;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=2.90;ReadPosRankSum=0.599;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,37:158:99:0|1:36265782_G_T:388,0,3243:36265782	13	0	8	0
chr22	40861873	40861873	T	G	exonic	DNAJB7	.	nonsynonymous SNV	DNAJB7:NM_145174:exon1:c.A122C:p.E41A,	.	.	431	1070	2	0	19	21	0.000933707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.798	P	0.444	B	0.000	D	1.000	D	-0.325	N	1.49	T	-1.078	T	0.010	T	0.178	2.926	15.75	2.28	0.442	1.022	9.921	0.125	.	0.0063	0.014377	0.0090	0.0016	0.0057	0.0178	0.0014	0.0073	0.0100	0.0211	0.0086868	1343	154602	rs2269619	0.0086	0.0086	0.0081	0.0090	0.0454	0.0084	0.0084	0.0437	0.0430	0.0024	0.0082	0.0284	0.0454	0.0014	0.0214	0.0063	0.0106	0.0190	0.0072	0.0072	0.0071	0.0073	0.0257	0.0069	0.0067	0.0221	0.0208	0.0016	0.0011	0.0153	0.0291	0.0257	0.0016	0.0068	0.0063	0.0090	0.0210	0.022	0.48642	D	0.065	0.44702	T	0.798	0.44840	P	0.444	0.45865	B	0.000023	0.55875	D	0.000000	1	0.81001	D	1.14	0.29013	L	1.49	0.31470	T	-3.77	0.71397	D	0.119	0.10911	-1.0780	0.07741	T	0.010	0.03673	T	10	0.0061478615	0.00138	T	.	.	.	0.125	0.34456	.	.	0.587387877561	0.58413	0.4564600377111516	0.45564	0.0121500780644	0.01158	0.394086062908	0.24243	T	0.193878	0.54949	T	-0.56327	0.00243	T	-0.532408	0.19047	T	0.0665016580134833	0.08151	T	0.671933	0.28057	T	0.33103934	0.55555	0.29807815	0.55841	0.33103934	0.55555	0.29807815	0.55840	-7.333	0.56430	T	.	.	0.085	0.10208	B	.	.	1.939168	0.24630	16.47	0.99263871807972581	0.57322	0.72766	0.35606	D	AEFBI	0.146398	0.26984	N	-0.401280024689455	0.25425	1.380051	-0.315433856626994	0.27600	1.532645	0.864824531615923	0.25297	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.528226	0.09195	0	.	.	4.49	2.28	0.27583	1.023000	0.29668	-0.073000	0.12273	-1.569000	0.00937	0.991000	0.37257	0.941000	0.28781	0.918000	0.45347	0.0:0.0:0.3277:0.6723	9.921	0.40633	242	0.90534	DnaJ domain|DnaJ domain|DnaJ domain|DnaJ domain|DnaJ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2453.08	34	chr22	40861873	.	T	G	2453.08	.	AC=2;AF=0.048;AN=42;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.60;SOR=1.032	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2481,219,0	20	1	0	0
chr22	41209772	41209772	G	C	exonic	L3MBTL2	.	nonsynonymous SNV	L3MBTL2:NM_031488:exon2:c.G101C:p.R34P,	.	.	437	1081	4	0	0	4	0.00184672	.	.	705958	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.03	D	0.789	P	0.222	B	0.015	N	0.591	D	0.695	N	2.18	T	-1.072	T	0.002	T	0.695	3.187	16.67	4.15	2.528	2.157	12.027	0.083	.	0.0012	0.0159744	0.0093	0.0011	0.0869	0.0045	0	0.0008	0.0099	0.0009	0.0094953	1468	154602	rs143455680	0.0036	0.0036	0.0040	0.0031	0.0918	0.0035	0.0035	0.0894	0.0885	0.0011	0.0918	3.826e-05	0.0036	0	0.0021	0.0005	0.0051	0.0008	0.0088	0.0088	0.0076	0.0101	0.0766	0.0084	0.0083	0.0729	0.0715	0.0015	0	0.0766	0	0.0046	0	0	0.0006	0.0199	0.0004	0.018	0.50676	D	0.295	0.20680	T	0.789	0.44570	P	0.222	0.37884	B	0.014691	0.28458	N	0.331247	0.591098	0.32456	D	1.79	0.46772	L	2.18	0.18875	T	-1.58	0.38151	N	0.681	0.68777	-1.0723	0.08915	T	0.002	0.00707	T	10	0.0017636716	0.00023	T	.	.	.	0.083	0.24192	.	.	.	.	0.48811223712575597	0.48731	0.385853151971	0.39878	0.522551417351	0.41986	T	0.041931	0.26020	T	-0.376254	0.03289	T	-0.241172	0.50684	T	0.0290019375447394	0.01838	T	0.844516	0.52185	T	0.31834954	0.54500	0.28808698	0.54823	0.31834954	0.54500	0.28808698	0.54822	-2.649	0.06885	T	.	.	0.172	0.37746	B	.	.	4.458290	0.69369	25.4	0.99507474844105048	0.68440	0.86437	0.45717	D	AEFBI	0.444472	0.50135	N	0.199791998847878	0.51190	3.302212	0.302490858054253	0.55685	3.731458	0.372063011665107	0.19880	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.37	4.15	0.47978	2.228000	0.42625	7.287000	0.58042	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0779:0.1254:0.7968:0.0	12.027	0.52670	258	0.89879	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3055.08	37	chr22	41209772	.	G	C	3055.08	.	AC=2;AF=0.048;AN=42;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.55;SOR=0.789	GT:AD:DP:GQ:PL	1/1:0,107:107:99:3083,321,0	20	1	0	0
chr22	41237264	41237264	T	C	exonic	CHADL	.	nonsynonymous SNV	CHADL:NM_138481:exon3:c.A1808G:p.N603S,	.	.	.	.	.	.	.	.	.	.	.	2347772	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.999	D	0.000	D	1.000	D	3.315	M	-0.26	T	0.323	D	0.553	D	0.38	2.957	15.86	5.1	1.915	6.066	14.946	0.521	0.179079377995	.	.	0.0005	0	0	0	0	0.0007	0	0.0004	6.47e-05	10	154602	rs549415902	9.655e-05	9.303e-05	8.467e-05	0.0001	0.0016	8.32e-05	7.769e-05	0.0008	0.0006	0	8.403e-05	3.972e-05	0	0	0.0016	7.6e-05	0.0002	0.0004	0.0001	0.0001	0.0001	9.413e-05	0.0003	6.511e-05	5.322e-05	0.0001	8.285e-05	0	0	0.0003	0	0	0	0	0.0001	0.0010	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999905	0.50806	D	3.82	0.95555	H	-0.3	0.67874	T	-4.67	0.80256	D	0.78	0.77695	0.323	0.87914	D	0.553	0.83654	D	10	0.5760934	0.65588	D	0.179079	0.85399	D	0.521	0.79643	.	.	0.467501455318	0.46379	0.7838097004984536	0.78331	0.186787043262	0.20992	0.573697805405	0.49200	T	0.116867	0.58752	T	-0.133101	0.30996	T	-0.120099	0.61794	T	0.599488854408264	0.36380	D	0.926207	0.73102	D	0.7826893	0.82819	0.7522932	0.85359	0.7826893	0.82821	0.7522932	0.85360	-11.152	0.80485	D	.	.	0.719	0.73746	P	.;.	.;.	4.088568	0.60878	24.3	0.998270170023836	0.90939	0.89872	0.50624	D	AEFDBCI	0.815266	0.73729	D	0.333273124986533	0.57863	3.955509	0.279237558035211	0.54330	3.598178	0.999999999999787	0.74766	0.580535	0.33130	0	0.491552	0.07993	0	0.503968	0.08637	0	0.604944	0.38103	0	.	.	5.1	5.1	0.68917	7.990000	0.87862	7.753000	0.68172	0.664000	0.56970	1.000000	0.71638	1.000000	0.68203	0.461000	0.28141	0.0:0.0:0.0:1.0	14.946	0.70682	160	0.93798	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2327.08	38	chr22	41237264	.	T	C	2327.08	.	AC=2;AF=0.048;AN=42;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.32;SOR=0.749	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2355,216,0	20	1	0	0
chr22	43884304	43884304	G	C	exonic	PNPLA5	.	nonsynonymous SNV	PNPLA5:NM_001177675:exon5:c.C649G:p.R217G	.	.	429	1079	1	0	13	14	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.826	P	0.285	B	0.744	N	1.000	N	1.53	L	1.65	T	-1.049	T	0.061	T	0.407	0.798	8.200	1.83	0.431	0.770	6.151	0.076	0.0105007851262	0.0015	0.00179712	0.0014	0.0034	0.0012	0	0	0.0015	0.0023	0.0011	0.0012484	193	154602	rs148896213	0.0011	0.0011	0.0010	0.0011	0.0305	0.0010	0.0010	0.0268	0.0253	0.0039	0.0014	0.0002	0	0.0004	0.0305	0.0009	0.0023	0.0010	0.0018	0.0018	0.0018	0.0018	0.0034	0.0016	0.0015	0.0029	0.0027	0.0034	0	0.0012	0.0003	0	0.0005	0.0340	0.0012	0.0033	0.0008	0.405	0.46910	T	0.196	0.58089	T	0.249	0.41275	B	0.081	0.40506	B	0.743806	0.06444	N	1.192680	1	0.08975	N	1.855	0.49169	L	1.41	0.44461	T	-3.6	0.69950	D	0.338	0.37923	-1.0486	0.14790	T	0.061	0.25419	T	10	0.004383564	0.00089	T	0.010501	0.27109	T	0.076	0.22200	.	.	0.341460817117	0.33762	0.28422708678200204	0.28335	0.219144547618	0.24453	0.274892568588	0.06791	T	0.043256	0.26443	T	-0.462846	0.00943	T	-0.439096	0.28910	T	0.0368602888373502	0.03132	T	0.545645	0.18668	T	0.09420593	0.22145	0.12430613	0.29963	0.09420593	0.22144	0.12430613	0.29962	-4.071	0.24861	T	.	.	0.077	0.16010	B	.;.;.;.;.	.;.;.;.;.	1.209471	0.16023	12.27	0.87138616959113779	0.17015	0.10227	0.15792	N	AEFDBCI	0.059976	0.11365	N	-0.715946997227853	0.15574	0.7860263	-0.827677575654239	0.13825	0.719296	0.825105346048427	0.24593	0.646311	0.45356	0	0.491513	0.07743	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.01	1.83	0.24279	0.865000	0.27595	0.154000	0.15327	-0.161000	0.11593	0.003000	0.16062	0.000000	0.08366	0.089000	0.17737	0.2506:0.0:0.7494:0.0	6.151	0.19529	886	0.28090	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1757.08	36	chr22	43884304	.	G	C	1757.08	.	AC=2;AF=0.048;AN=42;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.80;SOR=1.197	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1785,183,0	20	1	0	0
chr22	46256619	46256619	T	A	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.A6704T:p.Y2235F,	.	.	426	1072	23	1	0	25	0.011526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.125	B	0.028	B	0.298	N	1.000	N	0.255	N	1.31	T	-1.014	T	0.044	T	0.184	0.653	7.502	3.38	0.445	0.448	9.029	0.033	0.00352748671931	0.0022	0.00139776	0.0027	0.0009	0.0034	0	0.0026	0.0037	0.0055	0.0010	0.0025808	399	154602	rs145208153	0.0027	0.0027	0.0027	0.0028	0.0194	0.0026	0.0026	0.0165	0.0154	0.0013	0.0029	0.0013	0	0.0018	0.0194	0.0030	0.0032	0.0008	0.0025	0.0025	0.0024	0.0026	0.0037	0.0023	0.0022	0.0033	0.0032	0.0005	0.0044	0.0031	0.0017	0.0002	0.0025	0.0340	0.0037	0.0033	0.0006	0.363	0.11807	T	0.419	0.14158	T	0.125	0.26866	B	0.028	0.21332	B	0.297716	0.14654	N	0.651748	1	0.08975	N	1.29	0.32370	L	1.31	0.35405	T	-1.11	0.28703	N	0.097	0.07811	-1.0135	0.25816	T	0.044	0.19070	T	10	0.007076353	0.00161	T	0.003527	0.08031	T	0.033	0.08068	.	.	0.0954503805726	0.09146	0.21857502953955749	0.21773	.	.	0.386549502611	0.23182	T	0.20371	0.56227	T	-0.5695	0.00223	T	-0.58849	0.13797	T	0.00456023149037528	0.00049	T	0.646135	0.25753	T	0.06590596	0.14131	0.057479482	0.10455	0.06590596	0.14131	0.057479482	0.10454	-3.199	0.12468	T	.	.	0.100	0.17060	B	.	.	0.686749	0.10553	7.262	0.79649003285067921	0.12837	0.09470	0.15218	N	ALL	0.059044	0.11122	N	-1.05196031419686	0.07549	0.3510676	-0.975477687017799	0.10337	0.5200256	0.999999860432101	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	5.56	3.38	0.37806	0.503000	0.22318	0.760000	0.21307	-0.847000	0.02749	0.006000	0.17386	0.009000	0.19889	0.319000	0.24947	0.3047:0.0:0.0:0.6953	9.029	0.35407	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4966.11	35	chr22	46256619	.	T	A	4966.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.30;DP=1128;ExcessHet=0.1072;FS=4.063;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=1.14;SOR=0.457	GT:AD:DP:GQ:PL	0/1:111,95:206:99:2303,0,2743	19	0	2	0
chr22	46533881	46533881	T	C	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon1:c.A3290G:p.N1097S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.989	D	0.831	P	0.000	U	0.998	D	3.23	M	0.65	T	0.102	D	0.470	T	0.388	3.594	18.30	4.42	1.622	7.718	13.326	0.343	0.191609039759	.	.	8.271e-06	0	8.645e-05	0	0	0	0	0	3.84e-05	1	26028	rs769460485	2.054e-06	2.052e-06	1.362e-06	2.752e-06	0.0002	5.5e-07	1.5e-07	.	.	0	2.236e-05	0	0	1.899e-05	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.989	0.62824	D	0.831	0.59664	P	0.000001	0.84330	U	0.000000	0.99782	0.44227	D	3.06	0.86941	M	0.65	0.52642	T	-4.08	0.74742	D	0.813	0.80866	0.102	0.84219	D	0.470	0.79583	T	10	0.87324333	0.86601	D	0.191609	0.86194	D	0.343	0.66488	0.585	0.71245	0.664390184103	0.66157	0.4518638861038502	0.45104	1.00767111869	0.74647	0.441977024078	0.30847	T	0.652189	0.89459	D	-0.03587	0.46561	T	-0.206436	0.54035	T	0.975515365600586	0.70968	D	0.981802	0.93846	D	0.6534598	0.75549	0.55990744	0.74538	0.6534598	0.75550	0.55990744	0.74538	-8.757	0.66119	D	.	.	0.261	0.49557	B	.	.	3.500136	0.48969	22.7	0.99835153685800027	0.91628	0.95797	0.66195	D	AEFDGBCI	0.879683	0.80581	D	0.393528452284044	0.61070	4.303401	0.355371960936718	0.58832	4.056328	0.999999999990736	0.74766	0.712529	0.81865	0	0.626922	0.53725	0	0.635938	0.45252	0	0.699875	0.68795	0	.	.	4.42	4.42	0.52775	7.699000	0.83526	7.954000	0.75900	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.766000	0.36367	0.0:0.0:0.0:1.0	13.326	0.59895	940	0.13648	Cadherin conserved site|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2930.98	85	chr22	46533881	.	T	C	2930.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=2769;ExcessHet=0.0000;FS=7.418;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.111;SOR=0.717	GT:AD:DP:GQ:PL	0/1:109,111:220:99:2945,0,2748	20	0	1	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	17831.26	36	chr22	49922304	.	C	T,*	17831.26	.	AC=10,8;AF=0.238,0.190;AN=42;BaseQRankSum=2.03;DP=1611;ExcessHet=1.2156;FS=0.561;InbreedingCoeff=0.0278;MLEAC=10,8;MLEAF=0.238,0.190;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=0.644;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,92,0:92:99:1|1:49922276_G_T:3686,277,0,3686,277,3686:49922276	7	1	7	0
chrX	8536860	8536860	G	T	exonic	ANOS1	.	nonsynonymous SNV	ANOS1:NM_000216:exon11:c.C1532A:p.S511Y,	Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), X-linked	.	1	1518	2	1	0	4	0.00131579	.	.	471776	not_specified|not_provided|Hypogonadotropic_hypogonadism_1_with_or_without_anosmia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010635,MedGen:C1563719,OMIM:308700,Orphanet:478	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.149	B	0.195	B	0.033	N	0.998	N	1.15	L	0.26	T	-0.981	T	0.103	T	0.196	-1.673	0.012	0.455	-0.298	1.902	3.454	0.109	0.460678344346	0.0017	0.000529801	0.0018	0.0004	0.0012	0	0	0.0024	0.0018	0.0028	0.0015653	242	154602	rs142729431	0.0017	0.0017	0.0016	0.0019	0.0070	0.0017	0.0016	0.0050	0.0043	0.0002	0.0007	0	0	0.0001	0.0070	0.0019	0.0015	0.0027	0.0011	0.0011	0.0011	0.0009	0.0023	0.0009	0.0008	0.0014	0.0013	0.0002	0	0.0010	0	0	0	0.0139	0.0017	0.0007	0.0023	1.0	0.00964	T	1.0	0.01155	T	0.149	0.27956	B	0.195	0.36592	B	0.032520	0.25019	N	0.417082	0.99843	0.22156	N	1.795	0.47270	L	0.26	0.59314	T	-1.74	0.41239	N	0.186	0.20262	-0.9806	0.34863	T	0.103	0.37994	T	10	0.012378961	0.00266	T	0.460678	0.94507	D	0.109	0.30843	.	.	0.082315109003	0.07666	0.4127419884046237	0.41190	0.169588999585	0.19120	0.286001771688	0.08342	T	0.164454	0.50992	T	-0.57653	0.00202	T	-0.605225	0.12376	T	0.0162513227312763	0.00398	T	0.613939	0.23413	T	0.067395754	0.14591	0.08951854	0.20937	0.067395754	0.14591	0.08951854	0.20937	-4.628	0.32521	T	0.5696473493882007	0.63689	0.095	0.14933	B	.	.	0.569561	0.09383	6.161	0.099413096508733381	0.00113	0.70355	0.34556	D	AEFBI	.	.	.	.	.	.	.	.	.	0.00316257017770698	0.09966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.99	0.455	0.15862	2.500000	0.45040	0.009000	0.13411	0.676000	0.76740	1.000000	0.71638	0.000000	0.08366	0.920000	0.45560	0.5377:0.1966:0.2657:0.0	3.454	0.07075	1000	0.00083	Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1109.08	44	chrX	8536860	.	G	T	1109.08	.	AC=2;AF=0.048;AN=42;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.44;SOR=0.743	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1137,117,0	20	1	0	0
chrX	24364312	24364336	CCTGCTCCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	.	385	1083	16	7	31	61	0.0136612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1192.61	92	chrX	24364312	.	CCTGCTCCTGCTCTAGCTGCTGCTG	C,*	1192.61	.	AC=2,3;AF=0.067,0.100;AN=30;DP=1677;ExcessHet=0.0454;FS=0.000;InbreedingCoeff=0.1390;MLEAC=3,4;MLEAF=0.100,0.133;MQ=59.73;MQRankSum=0.00;QD=7.18;ReadPosRankSum=1.61;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,28,0:28:94:.:.:1216,94,0,1216,94,1216	11	1	0	6
chrX	24364318	24364336	CCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	.	394	1076	19	5	28	57	0.0132967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	577.6	63	chrX	24364318	.	CCTGCTCTAGCTGCTGCTG	*,GCTGCTCTAGCTGCTGCTG,C	577.6	.	AC=3,1,1;AF=0.083,0.028,0.028;AN=36;BaseQRankSum=2.10;DP=1497;ExcessHet=0.0454;FS=0.609;InbreedingCoeff=0.2571;MLEAC=3,1,1;MLEAF=0.083,0.028,0.028;MQ=59.49;MQRankSum=0.00;QD=3.68;ReadPosRankSum=3.24;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,28,0,0:28:94:.:.:1216,94,0,1216,94,1216,1216,94,1216,1216	14	1	1	3
chrX	24364318	24364318	C	G	exonic	SUPT20HL1	.	nonsynonymous SNV	SUPT20HL1:NM_001136234:exon1:c.C1636G:p.P546A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0020	0.0043	0	0.0192	0.0019	0	0.0008	3.84e-05	1	26028	rs768988575	0.0047	0.0046	0.0067	2.072e-05	0.0056	0.0046	0.0045	0.0055	0.0054	0.0023	0.0002	0.0006	0.0011	0.0002	0.0011	0.0056	0.0040	0.0035	2.646e-05	0.0003	3.634e-05	0	6.576e-05	4.39e-06	1.64e-06	.	.	6.576e-05	0	0	0	0	0	0	2.442e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1389	577.6	63	chrX	24364318	.	CCTGCTCTAGCTGCTGCTG	*,GCTGCTCTAGCTGCTGCTG,C	577.6	.	AC=3,1,1;AF=0.083,0.028,0.028;AN=36;BaseQRankSum=2.10;DP=1497;ExcessHet=0.0454;FS=0.609;InbreedingCoeff=0.2571;MLEAC=3,1,1;MLEAF=0.083,0.028,0.028;MQ=59.49;MQRankSum=0.00;QD=3.68;ReadPosRankSum=3.24;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,28,0,0:28:94:.:.:1216,94,0,1216,94,1216,1216,94,1216,1216	14	1	1	3
chrX	24364323	24364326	TCTA	0	exonic	SUPT20HL1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	236.33	63	chrX	24364323	.	TCTA	*,T	236.33	.	AC=4,1;AF=0.105,0.026;AN=38;BaseQRankSum=1.53;DP=1488;ExcessHet=0.0454;FS=0.604;InbreedingCoeff=0.3023;MLEAC=4,1;MLEAF=0.105,0.026;MQ=59.05;MQRankSum=-5.358e+00;QD=1.50;ReadPosRankSum=2.58;SOR=0.624	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,28,0:28:94:.:.:1216,94,0,1216,94,1216	15	1	2	2
chrX	24364324	24364326	CTA	-	exonic	SUPT20HL1	.	nonframeshift deletion	SUPT20HL1:NM_001136234:exon1:c.1642_1644del:p.L548del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0122	.	.	.	.	.	.	.	.	.	.	.	.	rs1181749854	7.466e-06	3.364e-05	8.519e-06	4.995e-06	9.671e-06	2.19e-06	1.59e-06	2.83e-06	2.06e-06	0	0	0	0	0	0	9.671e-06	0	0	4.925e-05	0.0002	5.171e-05	4.309e-05	0.0001	1.65e-05	9.75e-06	7.6e-06	2.84e-06	6.052e-05	0	0.0001	0	0	0	0	4.586e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	236.33	63	chrX	24364323	.	TCTA	*,T	236.33	.	AC=4,1;AF=0.105,0.026;AN=38;BaseQRankSum=1.53;DP=1488;ExcessHet=0.0454;FS=0.604;InbreedingCoeff=0.3023;MLEAC=4,1;MLEAF=0.105,0.026;MQ=59.05;MQRankSum=-5.358e+00;QD=1.50;ReadPosRankSum=2.58;SOR=0.624	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,28,0:28:94:.:.:1216,94,0,1216,94,1216	15	1	2	2
chrX	24364336	24364336	G	0	exonic	SUPT20HL1	.	.	.	.	.	397	1074	7	2	42	53	0.00509495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	620.36	63	chrX	24364336	.	G	*,C	620.36	.	AC=4,1;AF=0.105,0.026;AN=38;BaseQRankSum=-2.180e+00;DP=1411;ExcessHet=0.0409;FS=0.000;InbreedingCoeff=0.2222;MLEAC=4,1;MLEAF=0.105,0.026;MQ=59.45;MQRankSum=0.00;QD=3.74;ReadPosRankSum=3.60;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,28,0:28:94:.:.:1216,94,0,1216,94,1216	15	1	2	2
chrX	26217656	26217656	G	-	exonic	MAGEB5	.	frameshift deletion	MAGEB5:NM_001271752:exon2:c.355delG:p.R120Gfs*15,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1367775518	1.235e-05	1.184e-05	1.411e-05	8.733e-06	0.0024	6.89e-06	5.31e-06	0.0013	0.0010	0	0	0	0	0	0.0024	3.663e-06	0	0	2.68e-05	2.611e-05	2.57e-05	2.932e-05	5.641e-05	7.12e-06	2.98e-06	1.497e-05	8.15e-06	0	0	0	0	0	0	0	5.641e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4675.05	45	chrX	26217655	.	TG	T	4675.05	.	AC=2;AF=0.048;AN=42;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.19;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,105:105:99:1|1:26217655_TG_T:4703,316,0:26217655	20	1	0	0
chrX	26217660	26217667	GGATTCAT	-	exonic	MAGEB5	.	frameshift deletion	MAGEB5:NM_001271752:exon2:c.359_366del:p.R120Sfs*41,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1217618603	1.235e-05	1.184e-05	1.411e-05	8.734e-06	0.0025	6.89e-06	5.31e-06	0.0013	0.0010	0	0	0	0	0	0.0025	3.663e-06	0	0	2.679e-05	2.611e-05	2.57e-05	2.927e-05	5.637e-05	7.12e-06	2.97e-06	1.496e-05	8.15e-06	0	0	0	0	0	0	0	5.637e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4700.05	45	chrX	26217659	.	AGGATTCAT	A	4700.05	.	AC=2;AF=0.048;AN=42;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=35.74;SOR=0.811	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,106:106:99:1|1:26217655_TG_T:4728,319,0:26217655	20	1	0	0
chrX	27461150	27461150	A	G	exonic	PPP4R3C	.	nonsynonymous SNV	PPP4R3C:NM_207319:exon1:c.T2147C:p.M716T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1322284941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.105e-06	8.717e-06	0	3.115e-05	0.0003	0	0	.	.	0	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	0.495	0.37059	P	0.119	0.32162	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11166775	0.20918	T	.	.	.	.	.	.	.	.	.	0.15122067964296554	0.15044	.	.	.	.	.	0.011165	0.09998	T	.	.	.	.	.	.	.	.	.	0.254675	0.03932	T	0.085510105	0.19838	0.18935868	0.42278	0.085510105	0.19838	0.18935868	0.42277	-7.07	0.54544	T	.	.	0.152	0.33550	B	.	.	0.170964	0.05600	2.054	0.36469722755902256	0.02348	0.02803	0.07526	N	AEFGI	.	.	.	.	.	.	.	.	.	2.85801316901351E-5	0.03498	.	.	.	.	.	.	.	.	.	.	.	.	0.0505976	0.09843	4.16	-3.36	0.04606	0.270000	0.18372	-0.776000	0.07475	-0.388000	0.05360	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2215:0.413:0.0896:0.2759	2.121	0.03500	681	0.59854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05882	34.33	61	chrX	27461150	.	A	G	34.33	.	AC=2;AF=0.059;AN=34;DP=61;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.1531;MLEAC=2;MLEAF=0.059;MQ=60.00;QD=17.17;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	16	1	0	4
chrX	27747292	27747300	GAGGAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.397_405del:p.E145_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	4/4:0,0,0,0,35,0,0:35:99:1456,1456,1456,1456,1456,1456,1456,1456,1456,1456,106,106,106,106,0,1456,1456,1456,1456,106,1456,1456,1456,1456,1456,106,1456,1456	7	4	1	0
chrX	27747295	27747300	GAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.400_405del:p.E146_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	4/4:0,0,0,0,35,0,0:35:99:1456,1456,1456,1456,1456,1456,1456,1456,1456,1456,106,106,106,106,0,1456,1456,1456,1456,106,1456,1456,1456,1456,1456,106,1456,1456	7	4	1	0
chrX	27747298	27747300	GAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.403_405del:p.E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	4/4:0,0,0,0,35,0,0:35:99:1456,1456,1456,1456,1456,1456,1456,1456,1456,1456,106,106,106,106,0,1456,1456,1456,1456,106,1456,1456,1456,1456,1456,106,1456,1456	7	4	1	0
chrX	27747300	27747300	-	GAGGAG	exonic	DCAF8L2	.	nonframeshift insertion	DCAF8L2:NM_001353450:exon5:c.405_406insGAGGAG:p.E147_Q148insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	4/4:0,0,0,0,35,0,0:35:99:1456,1456,1456,1456,1456,1456,1456,1456,1456,1456,106,106,106,106,0,1456,1456,1456,1456,106,1456,1456,1456,1456,1456,106,1456,1456	7	4	1	0
chrX	27747300	27747300	-	GAGGAGGAGGAGGAGGAG	exonic	DCAF8L2	.	nonframeshift insertion	DCAF8L2:NM_001353450:exon5:c.405_406insGAGGAGGAGGAGGAGGAG:p.E147_Q148insEEEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	4/4:0,0,0,0,35,0,0:35:99:1456,1456,1456,1456,1456,1456,1456,1456,1456,1456,106,106,106,106,0,1456,1456,1456,1456,106,1456,1456,1456,1456,1456,106,1456,1456	7	4	1	0
chrX	40692728	40692728	T	C	exonic	MED14	.	nonsynonymous SNV	MED14:NM_004229:exon14:c.A1825G:p.R609G,	.	.	435	1079	5	3	0	11	0.00507146	.	.	963970	Intellectual_disability|not_specified	Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.41	T	0.079	B	0.016	B	0.001	D	1.000	N	1.39	L	.	.	-1.032	T	0.098	T	0.371	1.371	10.51	4.21	0.658	1.882	10.239	0.073	0.00490273137036	0.0004	.	0.0005	0.0001	0.0002	0	0	0.0007	0	0.0003	0.0004204	65	154602	rs145739870	0.0004	0.0005	0.0004	0.0005	0.0144	0.0004	0.0004	0.0113	0.0103	0.0009	0.0003	0.0019	0	0	0.0144	0.0003	0.0010	0.0005	0.0006	0.0006	0.0006	0.0005	0.0015	0.0005	0.0004	0.0009	0.0008	0.0001	0	0.0015	0.0026	0	0	0.0092	0.0006	0.0007	0.0011	0.268	0.16144	T	0.007	0.69154	D	0.079	0.24468	B	0.016	0.17743	B	0.000666	0.42516	D	0.284434	1	0.08975	N	1.61	0.41143	L	.	.	.	-0.82	0.22508	N	0.097	0.07811	-1.0315	0.19970	T	0.098	0.36600	T	9	0.012524694	0.00269	T	0.004903	0.12318	T	0.073	0.21317	.	.	0.248133497653	0.24425	0.38022173183262475	0.37937	0.109795811323	0.12382	0.289530426264	0.08854	T	0.112041	0.42800	T	-0.433843	0.01406	T	-0.460716	0.26521	T	0.0125827739555517	0.00209	T	0.818018	0.47523	T	0.13626401	0.31595	0.13553761	0.32448	0.13626401	0.31595	0.13553761	0.32447	-1.745	0.02350	T	.	.	0.088	0.11510	B	.	.	2.213112	0.28233	17.73	0.97058114391650008	0.32184	0.17092	0.19685	N	AEFBI	.	.	.	.	.	.	.	.	.	0.802896841596843	0.24218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.42	4.21	0.48984	2.244000	0.42775	1.862000	0.29329	-0.236000	0.07595	0.117000	0.23121	0.999000	0.35428	0.746000	0.35646	0.0:0.0:0.1641:0.8359	10.239	0.42481	821	0.40814	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	4182.66	33	chrX	40692728	.	T	C	4182.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.55;DP=883;ExcessHet=0.0000;FS=0.603;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.40;ReadPosRankSum=0.712;SOR=0.786	GT:AD:DP:GQ:PL	1/1:0,116:116:99:3393,348,0	19	1	1	0
chrX	45069832	45069832	C	T	exonic	KDM6A	.	nonsynonymous SNV	KDM6A:NM_001291418:exon15:c.C1940T:p.T647M	Kabuki syndrome 2, X-linked dominant	.	1	1240	187	92	2	373	0.13013	.	.	380059	not_specified|Kabuki_syndrome_2|not_provided	MedGen:CN169374|MONDO:MONDO:0010465,MedGen:C3275495,OMIM:300867,Orphanet:2322|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.646	P	0.097	B	0.209	N	1.000	P	0	N	0.76	T	-1.067	T	0.055	T	0.202	0.353	5.916	-2.48	-0.616	-0.793	15.541	0.062	0.153986145614	.	.	0.0002	0	0.0006	0	0	0.0002	0	0.0002	0.0001423	22	154602	rs2230018	0.0003	0.0003	0.0002	0.0003	0.0012	0.0002	0.0002	0.0005	0.0003	0	0.0003	5.159e-05	9.944e-05	0	0.0012	0.0003	0.0003	0.0005	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	0.0001	0.0002	0.0002	3.259e-05	0	9.522e-05	0	0	0	0	0.0003	0.0007	0.0008	0.139	0.25768	T	0.09	0.40267	T	0.646	0.40549	P	0.097	0.30390	B	0.208580	0.16421	N	0.640382	0.999966	0.18878	P	0.345	0.11182	N	0.76	0.49919	T	0.81	0.01839	N	0.052	0.15187	-1.0668	0.10131	T	0.055	0.23110	T	9	0.03868887	0.02304	T	0.153986	0.83517	D	0.062	0.17934	.	.	0.193917141947	0.19028	0.24952797713721842	0.24866	0.11190476299	0.12625	0.237911581993	0.02605	T	0.015006	0.34128	T	-0.617003	0.00115	T	-0.779121	0.02480	T	0.0065993512139926	0.00074	T	0.863414	0.55914	D	0.040850677	0.05909	0.09863973	0.23522	0.053731814	0.10210	0.1197753	0.28907	-5.446	0.41359	T	0.1269424636613506	0.12910	0.068	0.03093	B	.;.;.;.;.	.;.;.;.;.	-1.081137	0.00663	0.018	0.8421640515683424	0.15163	0.07799	0.13795	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999952254868068	0.48110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.82	-2.48	0.06052	-0.985000	0.03861	-4.604000	0.02073	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.943000	0.48514	0.0:0.7711:0.0:0.2289	15.541	0.75790	611	0.66908	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.2381	28040.68	33	chrX	45069832	.	C	A,T	28040.68	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=4.41;DP=1938;ExcessHet=0.0097;FS=0.544;InbreedingCoeff=0.4750;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=19.89;ReadPosRankSum=-1.040e-01;SOR=0.755	GT:AD:DP:GQ:PL	1/1:0,153,0:153:99:5362,460,0,5362,460,5362	14	3	3	0
chrX	48685764	48685764	G	A	exonic	WAS	.	nonsynonymous SNV	WAS:NM_000377:exon4:c.G391A:p.E131K,	Neutropenia, severe congenital, X-linked, X-linked recessive;Thrombocytopenia, X-linked, X-linked recessive;Thrombocytopenia, X-linked, intermittent, X-linked recessive;Wiskott-Aldrich syndrome, X-linked recessive	YES	1	1501	18	2	0	22	0.00727513	.	.	139152	X-linked_severe_congenital_neutropenia|Wiskott-Aldrich_syndrome|Thrombocytopenia_1|not_specified|not_provided|WAS-related_disorder	MONDO:MONDO:0010294,MedGen:C1845987,OMIM:300299,Orphanet:86788|MONDO:MONDO:0010518,MedGen:C0043194,OMIM:301000,Orphanet:906|MONDO:MONDO:0010743,MedGen:C1839163,OMIM:313900,Orphanet:268322,Orphanet:852|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.99	D	0.034	N	0.997	D	2.49	M	-6.2	D	1.088	D	0.981	D	0.922	4.118	21.2	4.29	0.962	3.183	8.661	0.845	.	0.0023	0.000794702	0.0052	0.0007	0	0	0.0246	0.0085	0.0055	0.0020	0.0022639	350	154602	rs146220228	0.0027	0.0027	0.0028	0.0026	0.0041	0.0026	0.0026	0.0028	0.0027	0.0002	0.0004	5.285e-05	0	0.0058	0.0041	0.0029	0.0024	0.0027	0.0022	0.0022	0.0021	0.0022	0.0034	0.0019	0.0019	0.0030	0.0028	0.0003	0	0.0009	0	0	0.0062	0	0.0034	0.0026	0.0015	0.005	0.63226	D	0.028	0.59159	D	0.998	0.73220	D	0.99	0.78936	D	0.033676	0.24868	N	0.421083	0.997118	0.43640	D	2.865	0.83145	M	-6.2	0.99568	D	-3.42	0.67241	D	0.065	0.03726	1.088	0.99146	D	0.981	0.99424	D	10	0.0077780485	0.00177	T	.	.	.	0.845	0.95175	.	.	0.999999773962	0.99999	0.9121155165048189	0.91185	1.55964591296	0.88024	0.624475359917	0.56361	T	0.789796	0.99102	D	0.294014	0.82483	D	0.648399	0.97988	D	0.032661687979623	0.02415	T	0.965303	0.88371	D	0.5585685	0.70430	0.67630875	0.80991	0.53327155	0.69017	0.69772846	0.82198	-7.45	0.57258	T	0.7234494835415142	0.80470	0.105	0.19114	B	.;.	.;.	3.584327	0.50547	23.0	0.99911008197178008	0.98022	0.92471	0.55789	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999998085348141	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.16	4.29	0.50359	1.610000	0.36480	6.631000	0.56152	0.616000	0.49467	0.998000	0.41325	1.000000	0.68203	0.976000	0.56436	0.1089:0.0:0.8911:0.0	8.661	0.33255	124	0.95048	WH1/EVH1 domain|WH1/EVH1 domain|WH1/EVH1 domain|WASP family, EVH1 domain;WH1/EVH1 domain|WH1/EVH1 domain|WH1/EVH1 domain|WASP family, EVH1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2225.08	34	chrX	48685764	.	G	A	2225.08	.	AC=2;AF=0.048;AN=42;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.34;SOR=0.779	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2253,212,0	20	1	0	0
chrX	49581689	49581689	C	G	exonic	GAGE12C;GAGE12D;GAGE12E;GAGE12H	.	nonsynonymous SNV	GAGE12C:NM_001098408:exon3:c.C121G:p.P41A	.	.	911	597	14	0	0	14	0.0115894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	.	.	1.000	N	2.65	M	2.8	T	-1.099	T	0.080	T	0.197	0.986	9.024	0.701	0.611	-0.127	.	0.019	.	.	.	0.0034	0	0.0003	0	0.0093	0.0057	0.0142	0.0051	3.84e-05	1	26028	rs201896467	0.0021	0.0017	0.0026	0.0006	0.0095	0.0020	0.0020	0.0059	0.0047	0.0001	0.0002	9.615e-05	0	0.0041	0.0095	0.0023	0.0020	0.0018	0.0014	0.0016	0.0018	0.0001	0.0022	0.0012	0.0011	0.0018	0.0016	0.0003	0	0.0003	0.0007	0	0.0040	0.0084	0.0022	0.0022	0.0015	0.004	0.65419	D	0.01	0.65728	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	2.56	0.74772	M	2.8	0.11082	T	-5.51	0.85921	D	0.076	0.05037	-1.0990	0.04214	T	0.080	0.31675	T	8	0.009480864	0.00214	T	.	.	.	0.019	0.03383	0.418	0.45873	0.0482279557977	0.04254	0.006013480245299581	0.00570	.	.	0.433214783669	0.29648	T	0.07774	0.35726	T	-0.704998	0.00034	T	-0.790384	0.02154	T	0.156742638315522	0.17628	T	0.519848	0.16911	T	0.17311032	0.38040	0.24971037	0.50548	0.17311032	0.38040	0.24971037	0.50547	-4.037	0.24355	T	.	.	0.082	0.08899	B	.	.	1.206617	0.15994	12.24	0.95511457129746513	0.27115	0.01199	0.04277	N	AEFI	.	.	.	.	.	.	.	.	.	2.16215505458365E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.701	0.701	0.17263	-0.118000	0.10665	-3.980000	0.02414	0.271000	0.18527	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	.	.	.	361	0.84870	GAGE|GAGE	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.03125	2078.01	36	chrX	49581689	.	C	G	2078.01	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-4.830e-01;DP=786;ExcessHet=0.0000;FS=3.781;InbreedingCoeff=-0.0323;MLEAC=1;MLEAF=0.031;MQ=38.29;MQRankSum=-1.063e+00;QD=9.36;ReadPosRankSum=0.365;SOR=0.493	GT:AD:DP:GQ:PL	0/1:117,105:222:99:2090,0,2513	15	0	1	5
chrX	49689423	49689423	T	C	exonic	PAGE1	.	nonsynonymous SNV	PAGE1:NM_003785:exon5:c.A413G:p.E138G,	.	.	438	1017	40	27	0	94	0.0441729	.	.	706262	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.985	D	0.795	P	.	.	1.000	N	2.445	M	2.42	T	-1.057	T	0.052	T	0.345	1.616	11.36	-0.188	-0.133	0.630	2.833	0.069	.	0.0057	0.00794702	0.0100	0.0011	0.0029	0	0.0073	0.0099	0.0174	0.0319	0.0093595	1447	154602	rs151117508	0.0091	0.0092	0.0086	0.0102	0.0574	0.0089	0.0088	0.0510	0.0486	0.0013	0.0032	0.0136	9.123e-05	0.0084	0.0574	0.0080	0.0095	0.0311	0.0074	0.0080	0.0075	0.0070	0.0277	0.0070	0.0068	0.0219	0.0198	0.0014	0	0.0069	0.0186	0.0003	0.0103	0.0515	0.0095	0.0102	0.0277	0.0	0.91255	D	0.0	0.92824	D	0.985	0.61118	D	0.795	0.57940	P	.	.	.	.	1	0.08975	N	2.395	0.69210	M	2.42	0.15376	T	-1.7	0.40468	N	0.098	0.07949	-1.0567	0.12595	T	0.052	0.22269	T	9	0.004495859	0.00092	T	.	.	.	0.069	0.20116	.	.	.	.	0.03342421481623945	0.03290	0.247465964204	0.27293	0.304119497538	0.11019	T	0.041785	0.25971	T	-0.607123	0.00132	T	-0.622554	0.10987	T	0.0351667141618346	0.02836	T	0.621038	0.23867	T	0.1517187	0.34476	0.17844623	0.40515	0.1517187	0.34476	0.17844623	0.40514	-3.676	0.18965	T	.	.	0.110	0.21277	B	.	.	2.369921	0.30405	18.43	0.993574185376907	0.60862	0.00675	0.02904	N	AEFI	.	.	.	.	.	.	.	.	.	9.47816147302976E-5	0.04910	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.03	-0.188	0.12612	0.650000	0.24544	-0.051000	0.12545	0.366000	0.20181	0.130000	0.23345	0.000000	0.08366	0.003000	0.05239	0.0:0.3419:0.0:0.6581	2.833	0.05166	162	0.93704	GAGE|GAGE	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	2819.66	34	chrX	49689423	.	T	C	2819.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.070;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=16.30;ReadPosRankSum=1.04;SOR=0.646	GT:AD:DP:GQ:PL	1/1:0,78:78:99:1960,234,0	19	1	1	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X	.	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	0.974	N	.	.	.	.	.	.	.	.	.	2.938	15.79	0.637	0.126	1.026	4.504	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.6429	358994.42	659	chrX	55146104	.	G	A	358994.42	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.384;DP=14798;ExcessHet=17.4423;FS=0.000;InbreedingCoeff=-0.5620;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=25.13;ReadPosRankSum=0.159;SOR=0.675	GT:AD:DP:GQ:PL	0/1:76,660:736:63:18156,0,63	0	6	15	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I	.	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	0	N	1.2	T	-0.995	T	0.031	T	0.047	-0.165	3.194	-3.2	-1.373	-0.117	6.324	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3824	41642.18	636	chrX	55146139	.	G	A	41642.18	.	AC=13;AF=0.382;AN=34;BaseQRankSum=0.241;DP=14777;ExcessHet=12.7758;FS=1.317;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.441;MQ=60.00;MQRankSum=0.00;QD=4.35;ReadPosRankSum=0.564;SOR=0.591	GT:AD:DP:GQ:PL	0/1:515,229:744:99:4688,0,13537	4	0	13	4
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S	.	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.137	B	0.013	B	.	.	1.000	N	0	N	1.03	T	-1.045	T	0.046	T	0.044	2.192	13.29	0.635	0.130	1.087	4.527	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	44724.71	464	chrX	55146173	.	G	A	44724.71	.	AC=16;AF=0.400;AN=40;BaseQRankSum=1.44;DP=14192;ExcessHet=22.9655;FS=0.657;InbreedingCoeff=-0.6471;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=3.95;ReadPosRankSum=0.470;SOR=0.810	GT:AD:DP:GQ:PL	0/1:552,199:751:99:4020,0,15422	4	0	16	1
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X	.	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	0.067	U	1.000	D	.	.	.	.	.	.	.	.	.	1.559	11.17	1.6	1.084	1.600	6.091	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4048	41330.81	464	chrX	55146197	.	G	A	41330.81	.	AC=17;AF=0.405;AN=42;BaseQRankSum=1.21;DP=12738;ExcessHet=25.1139;FS=0.664;InbreedingCoeff=-0.6768;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=4.19;ReadPosRankSum=-3.990e-01;SOR=0.814	GT:AD:DP:GQ:PL	0/1:489,164:653:99:3608,0,14088	4	0	17	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N	.	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.003	B	0.001	B	0.171	N	1.000	P	-0.345	N	1.04	T	-1.045	T	0.035	T	0.025	-1.501	0.017	-1.04	-0.355	-0.019	4.225	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	279484.49	466	chrX	55146212	.	C	T	279484.49	.	AC=22;AF=0.524;AN=42;BaseQRankSum=2.82;DP=11864;ExcessHet=43.6797;FS=1.429;InbreedingCoeff=-0.9104;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=25.15;ReadPosRankSum=1.65;SOR=0.530	GT:AD:DP:GQ:PL	0/1:76,508:584:99:15871,0,455	0	1	20	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R	.	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.991	D	0.182	U	1.000	N	1.385	L	0.49	T	-0.956	T	0.213	T	0.424	2.149	13.14	1.6	1.084	1.915	6.091	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.381	30065.86	352	chrX	55146247	.	G	C	30065.86	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.033e+00;DP=8964;ExcessHet=20.9642;FS=0.691;InbreedingCoeff=-0.6153;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=4.83;ReadPosRankSum=-4.230e-01;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:339,92:431:99:0|1:55146247_G_C:2784,0,13709:55146247	5	0	16	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13	.	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	29505.39	352	chrX	55146252	.	A	AT,G	29505.39	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.83;DP=8656;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6799;MLEAC=16,1;MLEAF=0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=4.46;ReadPosRankSum=-5.690e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:332,90,0:422:99:0|1:55146247_G_C:2737,0,13550,3736,13821,17557:55146247	4	0	16	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G	.	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.18	B	0.062	B	0.023	N	1.000	N	1.445	L	0.62	T	-1.046	T	0.083	T	0.07	1.063	9.342	-0.917	-0.353	0.231	4.198	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	144900.84	345	chrX	55146254	.	T	C	144900.84	.	AC=22;AF=0.524;AN=42;BaseQRankSum=-1.022e+00;DP=8618;ExcessHet=43.6797;FS=5.118;InbreedingCoeff=-0.9301;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=18.14;ReadPosRankSum=-9.060e-01;SOR=0.494	GT:AD:DP:GQ:PL	0/1:153,253:406:99:6947,0,5329	0	1	20	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8	.	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27841.82	280	chrX	55146255	.	TG	T	27841.82	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.845;DP=7945;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=4.80;ReadPosRankSum=-9.670e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:321,87:408:99:0|1:55146247_G_C:2687,0,13217:55146247	5	0	16	0
chrX	55146256	55146256	G	0	exonic	FAM104B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	408.28	280	chrX	55146256	.	G	*,T	408.28	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-7.340e-01;DP=7936;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=0.07;ReadPosRankSum=-1.616e+00;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:321,87,0:408:99:0|1:55146247_G_C:2687,0,13217,3653,13479,17132:55146247	5	0	15	0
chrX	55146256	55146256	G	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C179A:p.A60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.712	P	0.402	B	0.061	U	1.000	N	1.04	L	0.84	T	-1.050	T	0.077	T	0.217	0.319	5.727	-0.582	-0.288	-0.780	2.532	0.029	0.00436554593426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.012	0.63918	D	0.712	0.42110	P	0.116	0.44547	B	0.061012	0.22205	U	0.310110	1	0.08975	N	1.295	0.32453	L	0.84	0.47477	T	-2.3	0.51157	N	0.257	0.29313	-1.0498	0.14453	T	0.077	0.30828	T	10	0.053805858	0.05630	T	0.004366	0.10624	T	0.029	0.06676	0.355	0.35571	0.156986980423	0.15292	0.24595024861261647	0.24509	0.191270352614	0.21451	0.305318623781	0.11200	T	0.047192	0.27649	T	-0.370384	0.03574	T	-0.769807	0.02774	T	0.165286540985107	0.18253	T	0.779322	0.41328	T	0.17303388	0.38027	0.2548788	0.51160	0.17303388	0.38027	0.2548788	0.51160	-2.801	0.10719	T	.	.	0.213	0.44174	B	.;.;.;.;.	.;.;.;.;.	0.380615	0.07526	4.173	0.39602496394885089	0.02743	0.01150	0.04159	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999987547343258	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.582	0.11122	-0.412000	0.07197	-3.618000	0.02653	-0.220000	0.07995	0.000000	0.06391	0.000000	0.08366	0.900000	0.43643	0.2511:0.3045:0.4444:0.0	2.532	0.04420	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.381	408.28	280	chrX	55146256	.	G	*,T	408.28	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-7.340e-01;DP=7936;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=0.07;ReadPosRankSum=-1.616e+00;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:321,87,0:408:99:0|1:55146247_G_C:2687,0,13217,3653,13479,17132:55146247	5	0	15	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L	.	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.127	B	0.271	B	0.153	U	1.000	N	1.495	L	0.27	T	-0.863	T	0.155	T	0.217	0.481	6.608	-1.26	-0.432	0.511	4.529	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	145728.82	278	chrX	55146275	.	T	G	145728.82	.	AC=22;AF=0.524;AN=42;BaseQRankSum=-5.160e-01;DP=6743;ExcessHet=43.6797;FS=12.602;InbreedingCoeff=-0.9267;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=23.59;ReadPosRankSum=-3.687e+00;SOR=0.530	GT:AD:DP:GQ:PL	0/1:53,262:315:99:9675,0,1254	0	1	20	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N	.	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.97	D	0.76	P	0.060	U	1.000	N	1.04	L	0.58	T	-0.992	T	0.137	T	0.108	1.384	10.56	0.279	-0.048	0.205	4.875	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.375	15609.31	256	chrX	55146283	.	C	T	15609.31	.	AC=15;AF=0.375;AN=40;BaseQRankSum=-6.090e-01;DP=5771;ExcessHet=17.4423;FS=2.201;InbreedingCoeff=-0.6051;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=3.81;ReadPosRankSum=-1.177e+00;SOR=0.788	GT:AD:DP:GQ:PL	0/1:160,114:274:99:2735,0,4999	5	0	15	1
chrX	67546547	67546547	-	GGC	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.1401_1402insGGC:p.G473_E474insG	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,11,0,0,0,0,0:11:33:.:.:426,33,0,426,33,427,426,33,427,427,426,33,427,427,427,426,33,427,427,427,427,426,33,427,427,427,427,427	11	3	1	0
chrX	67546536	67546547	GGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1390_1401del:p.G470_G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,11,0,0,0,0,0:11:33:.:.:426,33,0,426,33,427,426,33,427,427,426,33,427,427,427,426,33,427,427,427,427,426,33,427,427,427,427,427	11	3	1	0
chrX	67546542	67546547	GGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1396_1401del:p.G472_G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,11,0,0,0,0,0:11:33:.:.:426,33,0,426,33,427,426,33,427,427,426,33,427,427,427,426,33,427,427,427,427,426,33,427,427,427,427,427	11	3	1	0
chrX	67546530	67546547	GGCGGCGGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1384_1401del:p.G468_G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,11,0,0,0,0,0:11:33:.:.:426,33,0,426,33,427,426,33,427,427,426,33,427,427,427,426,33,427,427,427,427,426,33,427,427,427,427,427	11	3	1	0
chrX	67546547	67546547	-	GGCGGC	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.1401_1402insGGCGGC:p.G473_E474insGG	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,11,0,0,0,0,0:11:33:.:.:426,33,0,426,33,427,426,33,427,427,426,33,427,427,427,426,33,427,427,427,427,426,33,427,427,427,427,427	11	3	1	0
chrX	67546515	67546547	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1369_1401del:p.G463_G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	1337344	Androgen_resistance_syndrome|Kennedy_disease|AR-related_disorder	MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429|MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186626054	0.0006	0.0005	0.0005	0.0007	0.0061	0.0005	0.0005	0.0030	0.0022	0.0025	0.0030	0.0014	0.0004	9.153e-05	0.0061	0.0003	0.0017	0.0010	0.0008	0.0006	0.0007	0.0008	0.0022	0.0006	0.0006	0.0014	0.0011	0.0013	0	0.0022	0.0009	0	0	0	0.0003	0.0009	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,11,0,0,0,0,0:11:33:.:.:426,33,0,426,33,427,426,33,427,427,426,33,427,427,427,426,33,427,427,427,427,426,33,427,427,427,427,427	11	3	1	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	.	9	1217	293	0	3	296	0.107444	.	.	706313	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.22	T	0.842	P	0.1	B	0.514	U	1.000	N	0	N	-1.96	D	-0.795	T	0.216	T	0.391	-2.619	0	0.088	0.675	0.068	3.724	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.3095	5960.15	34	chrX	74591904	.	A	G	5960.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.726e+00;DP=3755;ExcessHet=11.8493;FS=3.151;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=58.85;MQRankSum=-1.351e+01;QD=1.72;ReadPosRankSum=3.78;SOR=0.410	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,29:213:99:0|1:74591902_T_A:664,0,7639:74591902	8	0	13	0
chrX	74591957	74591957	C	T	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.G1358A:p.S453N	Mental retardation, X-linked 61, X-linked recessive	.	10	1315	197	0	0	197	0.0696852	.	.	2752745	Intellectual_disability,_X-linked_61	MONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	0.017	N	1.000	N	0.895	L	-1.6	D	-0.872	T	0.310	T	0.192	-1.096	0.146	4.1	1.077	-0.129	7.602	0.158	0.22060859109	.	.	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs201787580	2.754e-06	0.0004	4.09e-06	0	3.589e-06	7.3e-07	2e-07	9.6e-07	2.7e-07	0	0	0	0	0	0	3.589e-06	0	0	2.789e-05	0.0021	3.904e-05	0	9.85e-05	7.41e-06	3.06e-06	6.46e-06	2.42e-06	0	0	9.85e-05	0	0	0	0	3.895e-05	0	0	0.257	0.16738	T	0.499	0.11227	T	0.0	0.02946	B	0.0	0.01387	B	0.016982	0.27835	N	0.389770	1	0.08975	N	0.685	0.16464	N	-1.6	0.82165	D	-0.42	0.14193	N	0.236	0.26596	-0.8724	0.50349	T	0.310	0.68066	T	10	0.122223884	0.23183	T	0.220609	0.87766	D	0.158	0.41098	.	.	0.557858568325	0.55445	0.312164728673577	0.31129	0.692380051853	0.60661	0.502812802792	0.39220	T	0.172441	0.52093	T	-0.174656	0.24534	T	-0.488658	0.23531	T	0.0512267297337718	0.05713	T	0.508649	0.16166	T	0.07587642	0.17124	0.10946825	0.26384	0.07587642	0.17124	0.10946825	0.26384	-6.705	0.51848	T	.	.	0.087	0.11606	B	.;.	.;.	0.832856	0.12043	8.599	0.64009249238066646	0.07376	0.44947	0.27430	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.995911489112744	0.34405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.98	4.1	0.47196	0.741000	0.25870	0.022000	0.13604	0.599000	0.40250	0.101000	0.22814	0.000000	0.08366	0.960000	0.51673	0.0:0.8818:0.0:0.1182	7.602	0.27251	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	1974.03	34	chrX	74591957	.	C	T	1974.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.777e+00;DP=2767;ExcessHet=1.7912;FS=2.136;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=59.08;MQRankSum=-1.348e+01;QD=1.28;ReadPosRankSum=-2.514e+00;SOR=1.036	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,27:248:99:0|1:74591902_T_A:468,0,9191:74591902	15	0	6	0
chrX	103586735	103586735	T	G	exonic	TCEAL4	.	nonsynonymous SNV	TCEAL4:NM_001305841:exon2:c.T60G:p.N20K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.51	P	0.086	B	0.844	N	1.000	N	1.645	L	1.94	T	-1.049	T	0.104	T	0.133	1.631	11.41	-3.39	-0.875	-1.808	8.954	0.027	0.0125866129089	.	0.000794702	0.0003	0	0	0	0	0	0	0.0029	0.0001153	3	26028	rs763014665	0.0002	0.0002	0.0001	0.0003	0.0028	0.0001	0.0001	0.0024	0.0023	0	0	0	0	0	0.0005	5.938e-06	0.0002	0.0028	7.179e-05	7.861e-05	7.728e-05	5.917e-05	0.0030	3.481e-05	2.525e-05	0.0015	0.0011	0	0	0	0	0	0	0	0	0	0.0030	0.007	0.59928	D	0.135	0.55341	T	0.51	0.37313	P	0.086	0.29521	B	0.844289	0.09010	N	0.911729	1	0.08975	N	2.39	0.68882	M	1.81	0.57419	T	-2.16	0.78302	N	0.084	0.13911	-1.0489	0.14705	T	0.104	0.38243	T	10	0.0067048967	0.00152	T	0.012587	0.31297	T	0.027	0.05988	0.399	0.42753	0.350252656262	0.34631	0.01109401421881342	0.01070	0.577010703979	0.53645	0.401185393333	0.25234	T	0.021254	0.43140	T	-0.647618	0.00075	T	-0.70765	0.05418	T	0.0757827863542322	0.09439	T	0.385961	0.18695	T	0.21212882	0.43556	0.22775035	0.47795	0.21212882	0.43556	0.22775035	0.47794	-5.495	0.43300	T	.	.	0.279	0.51254	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	0.765511	0.11352	7.971	0.9669883292789031	0.30766	0.03502	0.08676	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999991649972333	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.72	-3.39	0.04563	-2.167000	0.01357	-4.426000	0.02162	0.656000	0.54149	0.000000	0.06391	0.000000	0.08366	0.986000	0.61781	0.0:0.433:0.0:0.567	8.954	0.34968	428	0.80967	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2529.08	34	chrX	103586735	.	T	G	2529.08	.	AC=2;AF=0.048;AN=42;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.22;SOR=0.768	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2557,243,0	20	1	0	0
chrX	129750526	129750526	G	T	exonic	XPNPEP2	.	nonsynonymous SNV	XPNPEP2:NM_003399:exon8:c.G696T:p.K232N,	.	.	427	1091	2	2	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.411	B	0.111	B	0.054	N	1.000	N	0.615	N	0.94	T	-1.066	T	0.040	T	0.033	-0.103	3.496	-0.918	-0.243	1.700	10.100	0.044	.	0.0050	0.00291391	0.0076	0.0014	0.0036	0.0004	0.0029	0.0134	0.0043	0.0011	0.0043208	668	154602	rs41311662	0.0073	0.0073	0.0074	0.0070	0.0088	0.0072	0.0071	0.0086	0.0086	0.0010	0.0029	0.0005	6.717e-05	0.0025	0.0015	0.0088	0.0059	0.0009	0.0051	0.0052	0.0053	0.0047	0.0084	0.0048	0.0047	0.0077	0.0075	0.0011	0	0.0058	0.0008	0.0003	0.0033	0	0.0084	0.0078	0.0011	0.296	0.14694	T	0.192	0.28300	T	0.411	0.35101	B	0.111	0.31539	B	0.053803	0.22777	N	0.509988	1	0.08975	N	0.69	0.16971	N	0.94	0.43672	T	-2.27	0.50666	N	0.044	0.01658	-1.0658	0.10362	T	0.040	0.17277	T	10	0.0037261546	0.00069	T	.	.	.	0.044	0.11924	0.418	0.45873	0.0138822411134	0.00435	0.4936216975096985	0.49283	0.0618784989107	0.06891	0.348435133696	0.17691	T	0.032932	0.22699	T	-0.851981	0.00002	T	-0.989054	0.00161	T	0.00927120343260039	0.00118	T	0.546045	0.18695	T	0.112870015	0.26661	0.095018506	0.22517	0.112870015	0.26661	0.095018506	0.22516	-4.032	0.24281	T	.	.	0.103	0.18497	B	.	.	0.515690	0.08847	5.624	0.86538283556362205	0.16604	0.07932	0.13918	N	AEFBI	.	.	.	.	.	.	.	.	.	0.755122282301359	0.23421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.03	-0.918	0.09949	1.778000	0.38244	1.134000	0.24350	-0.106000	0.15538	0.121000	0.23193	0.389000	0.24654	0.004000	0.06068	0.4991:0.0:0.5009:0.0	10.100	0.41673	153	0.93993	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3268.08	33	chrX	129750526	.	G	T	3268.08	.	AC=2;AF=0.048;AN=42;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.04;SOR=1.586	GT:AD:DP:GQ:PL	1/1:0,102:102:99:3296,306,0	20	1	0	0
chrX	130015924	130015924	T	C	exonic	BCORL1	.	nonsynonymous SNV	BCORL1:NM_001379450:exon4:c.T3152C:p.M1051T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.043	B	0.012	B	0.023	N	0.956	N	0.695	N	1.48	T	-1.065	T	0.053	T	0.306	0.184	4.989	0.968	0.146	1.527	4.271	0.018	0.00649390982154	.	.	1.14e-05	0	0	0	0	2.086e-05	0	0	2.59e-05	4	154602	rs746169893	2.276e-05	2.276e-05	2.178e-05	2.475e-05	0.0002	1.562e-05	1.32e-05	1.818e-05	1.519e-05	0	2.84e-05	0	0	0	0.0002	2.731e-05	0	0	1.8e-05	1.745e-05	2.573e-05	0	3.777e-05	2.99e-06	1.12e-06	6.26e-06	2.34e-06	0	0	0	0	0	0	0	3.777e-05	0	0	0.157	0.27426	T	0.855	0.06903	T	.	.	.	.	.	.	0.022569	0.26608	N	0.189126	0.972651	0.26318	N	.	.	.	1.05	0.39990	T	-0.82	0.24026	N	0.153	0.22486	-1.0646	0.10642	T	0.053	0.22423	T	10	0.088983744	0.15372	T	0.006494	0.17100	T	0.018	0.03083	0.306	0.27646	0.502820412485	0.49921	0.357528113635712	0.35666	0.481701296431	0.47150	0.679981052876	0.64265	T	0.009882	0.08963	T	-0.297011	0.08945	T	-0.612575	0.11778	T	0.0638523130551134	0.07760	T	0.662834	0.27173	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.51558	B	.;.;.	.;.;.	1.801273	0.22893	15.80	0.77442633570050612	0.11878	0.63648	0.32155	D	AEBCI	.	.	.	.	.	.	.	.	.	0.00178174119298207	0.08881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.17	0.968	0.18799	1.532000	0.35634	3.488000	0.38695	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.2505:0.2223:0.0:0.5272	4.271	0.10237	428	0.80967	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3187.08	36	chrX	130015924	.	T	C	3187.08	.	AC=2;AF=0.048;AN=42;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.86;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,97:97:99:3215,291,0	20	1	0	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.741	P	0.621	P	0.000	D	0.998	D	2.095	M	1.12	T	-0.845	T	0.185	T	0.728	2.907	15.69	4.88	2.356	4.577	16.741	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	903.93	74	chrX	135580144	.	G	C	903.93	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.040e+00;DP=1536;ExcessHet=20.9642;FS=227.873;InbreedingCoeff=-0.6099;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.503;SOR=12.634	GT:AD:DP:GQ:PL	0/1:34,18:61:55:55,0,445	5	0	16	0
chrX	141906385	141906385	C	0	exonic	MAGEC1	.	.	.	.	.	532	287	199	469	35	1172	0.664524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7105	95143.29	325	chrX	141906385	.	C	G,*	95143.29	.	AC=25,3;AF=0.658,0.079;AN=38;BaseQRankSum=1.37;DP=4666;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.6889;MLEAC=27,3;MLEAF=0.711,0.079;MQ=57.01;MQRankSum=-5.940e-01;QD=25.67;ReadPosRankSum=0.391;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,218,0:219:99:.:.:6370,643,0,6373,650,6380	4	11	2	2
chrX	151739696	151739696	G	T	exonic	CNGA2	.	nonsynonymous SNV	CNGA2:NM_005140:exon4:c.G338T:p.G113V,	.	.	429	1069	18	6	0	30	0.0138376	.	.	743181	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.43	T	0.013	B	0.015	B	0.022	N	1.000	D	0.97	L	-4.34	D	-0.175	T	0.659	D	0.101	1.179	9.795	2.75	0.138	0.882	2.259	0.193	0.0466069080944	0.0054	0.00344371	0.0060	0.0011	0.0035	0	0.0009	0.0083	0.0064	0.0077	0.0059572	921	154602	rs144366408	0.0066	0.0066	0.0065	0.0068	0.0169	0.0065	0.0064	0.0138	0.0126	0.0008	0.0033	0.0158	3.311e-05	0.0019	0.0169	0.0070	0.0072	0.0076	0.0050	0.0050	0.0052	0.0046	0.0080	0.0047	0.0045	0.0073	0.0071	0.0010	0.0044	0.0026	0.0155	0	0.0008	0.0140	0.0080	0.0106	0.0042	0.414	0.10020	T	0.316	0.19362	T	0.013	0.16609	B	0.015	0.17295	B	0.021695	0.26783	N	0.401066	0.999997	0.58761	D	1.5	0.37844	L	-4.34	0.97267	D	-0.31	0.12099	N	0.125	0.11769	-0.1750	0.78305	T	0.659	0.88141	D	10	0.0054856837	0.00121	T	0.046607	0.62536	D	0.193	0.47281	.	.	0.839038645063	0.83750	0.56561791884801	0.56488	0.0802067649774	0.09027	0.346496105194	0.17404	T	0.101624	0.40855	T	-0.39713	0.02417	T	-0.33852	0.40512	T	0.0100142106092321	0.00134	T	0.692631	0.30204	T	0.06027341	0.12350	0.060847368	0.11654	0.06027341	0.12350	0.060847368	0.11653	-4.882	0.35532	T	.	.	0.076	0.05979	B	.	.	1.296129	0.16976	12.88	0.95539897949477193	0.27185	0.86342	0.45603	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.0675586635227689	0.15430	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.58	2.75	0.31439	0.245000	0.17917	2.952000	0.35717	-0.785000	0.03297	0.851000	0.30461	1.000000	0.68203	0.862000	0.40904	0.1718:0.1496:0.5206:0.1579	2.259	0.03814	758	0.50837	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2046.08	33	chrX	151739696	.	G	T	2046.08	.	AC=2;AF=0.048;AN=42;DP=752;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.54;SOR=1.230	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2074,201,0	20	1	0	0
chrY	9487703	9487703	C	G	exonic	TSPY10;TSPY3;TSPY4	.	nonsynonymous SNV	TSPY4:NM_001164471:exon1:c.C391G:p.Q131E	.	.	1050	467	5	0	0	5	0.00532481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280806082202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.529e-06	.	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05556	66.79	312	chrY	9487703	.	C	G	66.79	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.470e-01;DP=312;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=0.111;MQ=22.15;MQRankSum=-9.700e-01;QD=1.28;ReadPosRankSum=0.012;SOR=0.743	GT:AD:DP:GQ:PL	0/1:43,9:52:74:74,0,925	8	0	1	12