Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	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	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	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	CADD_raw_rankscore	CADD_phred	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	GERP++_RS_rankscore	phyloP100way_vertebrate	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	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	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES980-M	WT	HH	HZ	NC
chr1	966765	966765	G	A	exonic	PLEKHN1	.	nonsynonymous SNV	PLEKHN1:NM_001160184:exon2:c.G145A:p.A49T,PLEKHN1:NM_001367552:exon2:c.G145A:p.A49T,PLEKHN1:NM_032129:exon2:c.G145A:p.A49T	.	414	1106	2	0	0	2	0.000903342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.006728288057	.	.	0.0005	0	0	0	0	0	0	0.0013	0.0001229	19	154602	rs757955004	7.819e-05	8.962e-05	5.162e-05	0.0001	0.0009	6.615e-05	6.183e-05	0.0008	0.0007	0	0.0002	0	2.696e-05	2.102e-05	0.0002	1.923e-05	6.805e-05	0.0009	3.282e-05	3.281e-05	3.854e-05	2.685e-05	0.0004	1.26e-05	7.97e-06	7.285e-05	3.027e-05	2.405e-05	0	6.532e-05	0	0	0	0	1.47e-05	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.015	0.20350	B	0.003	0.11217	B	0.464547	0.12351	N	0.702006	1	0.08975	N	-0.55	0.02420	N	1.08	0.40218	T	1.22	0.01408	N	0.093	0.07262	-1.0630	0.11021	T	0.029	0.12541	T	10	0.004440278	0.00091	T	0.006728	0.17784	T	0.028	0.06331	0.179	0.08626	0.0297737177859	0.01360	0.19979812765159546	0.19896	0.009824468403	0.00893	0.315550148487	0.12747	T	0.002631	0.02024	T	-0.663654	0.00060	T	-0.77651	0.02561	T	0.0372198770489534	0.03195	T	0.534647	0.17878	T	0.019179603	0.00445	0.040390167	0.04352	0.019179603	0.00445	0.040390167	0.04352	-4.268	0.27853	T	.	.	0.068	0.05360	B	.;.;.	.;.;.	-1.284029	0.00452	0.009	0.90376063081796232	0.19639	0.01648	0.05296	N	ALL	0.039902	0.05861	N	-1.74406218146125	0.00697	0.03009216	-1.82523087891978	0.00682	0.03033404	0.999999999999931	0.74766	0.56387	0.32371	0	0.218748	0.04544	0	0.503968	0.08637	0	0.492483	0.08430	1	.	.	5.43	-10.9	0.00151	-3.977000	0.00362	.	.	-0.952000	0.02027	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.3314:0.0:0.3812:0.2874	5.607	0.16667	917	0.20147	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	844.33	35	chr1	966765	.	G	A	844.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.921;DP=669;ExcessHet=0;FS=6.639;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.23;ReadPosRankSum=-1.579;SOR=1.751	GT:AD:DP:GQ:PL	0/1:16,33:49:99:858,0,396	18	0	1	0
chr1	1214100	1214100	G	A	exonic	TNFRSF4	.	nonsynonymous SNV	TNFRSF4:NM_003327:exon1:c.C28T:p.R10C	.	377	1075	66	4	0	74	0.0332734	.	.	.	447262	Combined_immunodeficiency_due_to_OX40_deficiency|TNFRSF4-related_disorder|not_provided	MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593,Orphanet:431149|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.118	.	0.0053	0.00519169	0.0151	0.0038	0.0060	0	0.0120	0.0141	0.0087	0.0318	0.0070504	1090	154602	rs35304565	0.0080	0.0080	0.0075	0.0085	0.0244	0.0079	0.0078	0.0235	0.0231	0.0015	0.0033	0.0093	5.145e-05	0.0058	0.0213	0.0074	0.0088	0.0244	0.0053	0.0053	0.0053	0.0052	0.0193	0.0050	0.0048	0.0161	0.0149	0.0018	0.0011	0.0056	0.0078	0	0.0040	0.0034	0.0068	0.0080	0.0193	0.007	0.59928	D	0.011	0.64786	D	0.981	0.59675	D	0.265	0.39681	B	0.001714	0.00817	N	4.085850	1	0.08975	N	0.895	0.22405	L	-0.02	0.62918	T	-2.58	0.55662	D	0.164	0.17278	-0.9026	0.47717	T	0.129	0.43848	T	10	0.0057964325	0.00129	T	.	.	.	0.118	0.32913	.	.	0.623996689363	0.62094	0.8368611785807644	0.83646	0.200386560108	0.22444	0.452319145203	0.32260	T	0.385507	0.74689	T	-0.476144	0.00779	T	-0.4378	0.29056	T	0.016484515701066	0.00413	T	0.526647	0.17353	T	0.17434712	0.38234	0.07939246	0.17868	0.1872518	0.40170	0.064411104	0.12905	-4.77	0.34240	T	.	.	0.341	0.56005	A	.	.	2.123526	0.27030	17.32	0.98421705000658088	0.41288	0.04202	0.09711	N	AEFDBCI	0.094465	0.19100	N	-0.538297404145678	0.20852	1.10236	-0.713258259078068	0.16631	0.8807004	0.999652904049022	0.41424	0.495158	0.18159	0	0.616935	0.53198	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.14	2.21	0.27042	-0.340000	0.07868	-5.498000	0.01697	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1456:0.0:0.8544:0.0	6.235	0.19967	789	0.46346	.	.	.	.	.	.	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	0.016871	0.010638	0.015068	0.026316	0.000000	0.034483	0.018868	0.019084	0.07895	2220.79	36	chr1	1214100	.	G	A	2220.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.974;DP=760;ExcessHet=0.3672;FS=5.091;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-0.541;SOR=0.691	GT:AD:DP:GQ:PL	0/1:33,23:56:99:556,0,786	16	0	3	0
chr1	1327705	1327705	G	A	exonic	CPTP	.	nonsynonymous SNV	CPTP:NM_001029885:exon3:c.G587A:p.R196H	.	420	1091	11	0	0	11	0.00501596	.	.	.	2805477	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.165	.	0.0029	0.00539137	0.0073	0.0015	0.0005	0.0001	0.0639	0.0040	0.0137	0.0095	0.0061383	949	154602	rs150672559	0.0053	0.0053	0.0052	0.0054	0.0096	0.0052	0.0052	0.0090	0.0088	0.0012	0.0005	3.828e-05	0.0006	0.0623	0.0069	0.0030	0.0038	0.0096	0.0074	0.0074	0.0046	0.0103	0.0072	0.0070	0.0069	0.0054	0.0047	0.0014	0	0.0009	0	0.0002	0.0759	0.0034	0.0031	0.0024	0.0072	0.267	0.16198	T	0.143	0.33219	T	0.004	0.12183	B	0.001	0.04355	B	0.908262	0.08571	N	0.953087	1	0.08975	N	0.58	0.15352	N	.	.	.	-0.77	0.21429	N	0.077	0.05162	-1.0599	0.11781	T	0.049	0.20987	T	9	0.0027572215	0.00043	T	.	.	.	0.165	0.42395	.	.	0.15556083564	0.15200	0.3042499643261352	0.30337	0.159076953761	0.17949	0.190905958414	0.00241	T	0.139094	0.47294	T	-0.645853	0.00077	T	-0.692966	0.06219	T	0.0043057328636276	0.00046	T	0.684232	0.29249	T	0.09764093	0.23018	0.14121509	0.33636	0.09764093	0.23017	0.14121509	0.33635	-5.096	0.37865	T	.	.	0.064	0.01622	B	.	.	0.282895	0.06599	3.089	0.88497534075742779	0.18024	0.02891	0.07678	N	AEFDBCI	0.106102	0.21181	N	-1.39097454191824	0.02722	0.1205953	-1.50454749327606	0.02309	0.1059861	0.999961495446834	0.48965	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.85	-7.41	0.01247	0.852000	0.27417	-1.609000	0.05069	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.8013:0.0:0.1987:0.0	17.372	0.87270	764	0.49969	.	.	.	.	.	rs150672559	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	0.004532	0.000000	0.002725	0.002924	0.000000	0.008621	0.006098	0.011364	0.02632	1242.33	93	chr1	1327705	.	G	A	1242.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=1444;ExcessHet=0;FS=0.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-1.295;SOR=0.576	GT:AD:DP:GQ:PL	0/1:51,47:98:99:1256,0,1282	18	0	1	0
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3438	775.38	34	chr1	7933282	.	T	C	775.38	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-1.376;DP=684;ExcessHet=9.6465;FS=107.214;InbreedingCoeff=-0.4822;MLEAC=12;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.717;SOR=9.203	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,17:51:96:.:.:96,0,587:.	5	0	11	3
chr1	10095509	10095509	G	C	exonic	UBE4B	.	nonsynonymous SNV	UBE4B:NM_001105562:exon3:c.G260C:p.S87T,UBE4B:NM_006048:exon3:c.G260C:p.S87T	.	.	.	.	.	.	.	.	.	.	.	3341419	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.177	0.0195117504902	.	.	3.295e-05	0	0	0	0	4.495e-05	0	6.056e-05	2.59e-05	4	154602	rs775888771	4.036e-05	4.036e-05	4.22e-05	3.85e-05	0.0043	3.178e-05	2.91e-05	0.0030	0.0026	0	0	0	0	0	0.0043	1.978e-05	6.623e-05	9.275e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-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	0.448	0.29688	T	0.326	0.18789	T	0.954	0.54666	P	0.916	0.66596	D	0.000000	0.84330	D	0.000000	0.999686	0.81001	D	1.7	0.43825	L	0.83	0.51228	T	-0.99	0.26200	N	0.393	0.43417	-0.9064	0.47285	T	0.219	0.58227	T	10	0.27910477	0.45482	T	0.019512	0.41891	T	0.177	0.44549	0.167	0.07186	0.357630699053	0.35373	0.5409626305628334	0.54021	0.348389392483	0.36710	0.766284942627	0.76868	T	0.174892	0.52428	T	-0.199021	0.20947	T	-0.286988	0.46085	T	0.249615877106425	0.22855	T	0.964804	0.89535	D	0.25558484	0.48593	0.24561705	0.50054	0.25558484	0.48593	0.24561705	0.50053	-4.936	0.36557	T	.	.	0.282	0.51523	B	.;.	.;.	4.297375	0.65585	24.9	0.99086928484430781	0.52124	0.99093	0.91122	D	AEFBI	0.901374	0.84800	D	0.657746581043957	0.76873	6.566983	0.697048523188248	0.82152	7.697395	0.999999994899708	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.33	5.33	0.75683	9.516000	0.97042	11.682000	0.94235	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.399	0.94612	548	0.72362	.;.	.	.	.	.	.	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	0.003525	0.005051	0.000000	0.011696	0.000000	0.008621	0.000000	0.003788	0.05263	3215.83	33	chr1	10095509	.	G	C	3215.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.844;DP=874;ExcessHet=0.119;FS=3.255;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=2.57;SOR=0.521	GT:AD:DP:GQ:PL	0/1:60,62:122:99:1496,0,1507	17	0	2	0
chr1	11045485	11045485	C	T	exonic	MASP2	.	nonsynonymous SNV	MASP2:NM_006610:exon4:c.G467A:p.C156Y,MASP2:NM_139208:exon4:c.G467A:p.C156Y	MASP2 deficiency, Autosomal recessive	0	1508	14	0	0	14	0.00462046	.	.	.	275880	not_specified|Immunodeficiency_due_to_MASP-2_deficiency|not_provided	MedGen:CN169374|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791,Orphanet:331187|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.982	0.617876174787	0.0075	0.00319489	0.0066	0.0020	0.0009	0	0.0030	0.0091	0.0094	0.0078	0.0063971	989	154602	rs41307788	0.0084	0.0084	0.0084	0.0084	0.0096	0.0083	0.0082	0.0095	0.0094	0.0013	0.0016	0.0052	5.038e-05	0.0036	0.0024	0.0096	0.0084	0.0071	0.0056	0.0056	0.0062	0.0049	0.0092	0.0053	0.0051	0.0086	0.0083	0.0020	0.0285	0.0016	0.0072	0	0.0029	0.0034	0.0092	0.0028	0.0054	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	4.395	0.98631	H	-5.76	0.99330	D	-10.46	0.99308	D	0.939	0.94550	0.781	0.94182	D	0.985	0.99538	D	10	0.06558162	0.08870	T	0.617876	0.96683	D	0.982	0.99890	.	.	0.953262336798	0.95276	0.8897999682880618	0.88949	0.334673750531	0.35479	0.706235647202	0.68048	T	0.484895	0.81202	T	0.23001	0.76722	D	0.568005	0.96196	D	0.116441120712496	0.14078	T	0.852615	0.79230	D	0.9833007	0.99351	0.98401016	0.99907	0.9784052	0.98985	0.9805422	0.99833	-12.261	0.86098	D	.	.	0.956	0.90609	P	.;.	.;.	4.858918	0.79490	27.1	0.9973246173666489	0.82904	0.98136	0.79906	D	AEFDBI	0.957603	0.97689	D	0.968969080821103	0.94707	12.97358	0.81460923233621	0.90789	10.57003	0.999999999999017	0.74766	0.495158	0.18159	0	0.573888	0.26702	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.22	4.22	0.49153	7.791000	0.84392	5.917000	0.51107	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	15.710	0.77376	799	0.44747	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like 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	0.002026	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.007634	0.05263	1092.83	34	chr1	11045485	.	C	T	1092.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.45;DP=733;ExcessHet=0.119;FS=0.693;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=1.21;SOR=0.786	GT:AD:DP:GQ:PL	0/1:33,16:49:99:459,0,889	17	0	2	0
chr1	11715121	11715121	A	T	exonic	DRAXIN	.	nonsynonymous SNV	DRAXIN:NM_198545:exon6:c.A850T:p.T284S	.	410	1101	11	0	0	11	0.00497063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00467839414571	0.0037	0.00159744	0.0039	0.0008	0.0016	0	0.0095	0.0056	0.0033	0.0004	0.0036998	572	154602	rs142338730	0.0044	0.0044	0.0044	0.0045	0.0087	0.0043	0.0043	0.0068	0.0061	0.0007	0.0018	0.0101	0	0.0095	0.0087	0.0047	0.0039	0.0003	0.0036	0.0036	0.0036	0.0035	0.0055	0.0033	0.0032	0.0050	0.0048	0.0007	0	0.0016	0.0084	0	0.0072	0.0170	0.0055	0.0033	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.005	0.11217	B	0.003595	0.34740	N	0.282652	0.979825	0.25155	N	0.93	0.23535	L	1.33	0.35031	T	0.3	0.04091	N	0.301	0.34012	-1.0041	0.28725	T	0.030	0.12892	T	10	0.008778155	0.00199	T	0.004678	0.11628	T	0.039	0.10176	0.097	0.01334	0.275641507738	0.27180	0.2882132366467168	0.28734	0.211663198389	0.23664	0.288618385792	0.08721	T	0.050109	0.28500	T	-0.59514	0.00156	T	-0.621115	0.11098	T	0.0101413217071886	0.00137	T	0.632437	0.24680	T	0.035670202	0.04242	0.037215453	0.03327	0.035670202	0.04242	0.037215453	0.03327	0.077	0.00323	T	.	.	0.080	0.07650	B	.	.	1.367489	0.17770	13.36	0.35202599786132721	0.02196	0.61654	0.31548	D	AEFBI	0.208744	0.33479	N	-0.630248775718301	0.18039	0.933401	-0.48821328290639	0.22477	1.221056	0.880888003038989	0.25620	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.92	0.893	0.18369	2.600000	0.45904	2.997000	0.35905	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.347:0.0:0.1012:0.5518	4.876	0.13016	862	0.33134	.	.	.	.	.	.	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	0.007553	0.005051	0.005435	0.020468	0.000000	0.000000	0.003049	0.011364	0.02632	2216.33	36	chr1	11715121	.	A	T	2216.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.363;DP=798;ExcessHet=0;FS=0.606;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-1.343;SOR=0.596	GT:AD:DP:GQ:PL	0/1:72,88:160:99:2230,0,1927	18	0	1	0
chr1	11765872	11765872	G	A	exonic	C1orf167	.	nonsynonymous SNV	C1orf167:NM_001010881:exon3:c.G86A:p.R29Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.161185483756	.	0.000399361	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs574154402	0.0001	0.0001	8.119e-05	0.0002	0.0017	0.0001	0.0001	0.0014	0.0013	0	0	0	0	0	0	3.2e-05	0.0002	0.0017	4.596e-05	4.593e-05	0	9.4e-05	0.0015	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.221	0.18889	T	0.409	0.14588	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.205	0.09354	N	-4.91	0.98352	D	-1.23	0.31170	N	0.042	0.01498	0.158	0.85194	D	0.766	0.92030	D	6	0.009609789	0.00216	T	0.161185	0.84103	D	0.234	0.53644	0.248	0.18447	0.313818047136	0.31001	0.023228044502364802	0.02274	0.385000908004	0.39793	.	.	.	0.002138	0.01537	T	-0.393088	0.02569	T	-0.343278	0.39973	T	0.0320479181761785	0.02315	T	0.347765	0.07665	T	0.019990686	0.00543	0.047087993	0.06705	0.019990686	0.00542	0.047087993	0.06704	-3.504	0.16487	T	.	.	0.166	0.36614	B	.	.	-1.041646	0.00714	0.021	0.69403313690913215	0.08961	0.00648	0.02824	N	AEFDBI	0.028633	0.02560	N	-1.77577020062326	0.00607	0.02616617	-2.00805317025905	0.00295	0.01300601	0.999999863713606	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.76	-7.52	0.01198	-2.943000	0.00747	-5.388000	0.01737	-4.986000	0.00016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2904:0.2112:0.3847:0.1137	2.289	0.03880	895	0.25842	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	1288.83	39	chr1	11765872	.	G	A	1288.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.18;DP=769;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=-0.842;SOR=0.765	GT:AD:DP:GQ:PL	0/1:19,25:44:99:746,0,354	17	0	2	0
chr1	12104505	12104505	C	T	exonic	TNFRSF8	.	nonsynonymous SNV	TNFRSF8:NM_001281430:exon3:c.C62T:p.P21L,TNFRSF8:NM_001243:exon4:c.C395T:p.P132L	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0651044994727	7.7e-05	.	3.311e-05	0	8.691e-05	0	0	4.507e-05	0	0	6.47e-05	10	154602	rs370304432	8.14e-05	8.14e-05	8.712e-05	7.563e-05	0.0002	6.935e-05	6.486e-05	8.388e-05	7.805e-05	2.987e-05	2.236e-05	0	0	0	0.0002	9.892e-05	8.279e-05	1.159e-05	9.856e-05	9.85e-05	0.0001	6.725e-05	0.0001	6.006e-05	4.88e-05	5.841e-05	4.239e-05	9.651e-05	0	6.546e-05	0	0	0	0	0.0001	0.0010	0	0.007	0.59928	D	0.017	0.60337	D	0.266	0.31648	B	0.03	0.21741	B	0.206769	0.03358	N	1.555060	1	0.08975	N	2.25	0.63811	M	-3.58	0.94940	D	-3.88	0.73378	D	0.262	0.29659	-0.1624	0.78612	T	0.735	0.90948	D	10	0.10948071	0.20424	T	0.065104	0.69478	D	0.115	0.32236	.	.	0.320526991862	0.31653	0.7531762409003414	0.75264	0.461249004309	0.45672	0.279683172703	0.07448	T	0.815136	0.95421	D	-0.0359672	0.46544	T	-0.107913	0.62777	T	0.167984976270852	0.18442	T	0.777622	0.41691	T	0.024067784	0.01203	0.03288521	0.02094	0.024067784	0.01203	0.03288521	0.02094	-7.003	0.61370	T	.	.	0.180	0.39134	B	.;.	.;.	2.665274	0.34729	19.71	0.99252209932937929	0.56924	0.14072	0.18207	N	AEFGBI	0.058128	0.10882	N	-0.590150507261473	0.19242	1.005572	-0.64402046560855	0.18368	0.9809016	0.0717890782194622	0.15579	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	4.89	2.86	0.32427	0.998000	0.29345	1.653000	0.27856	0.598000	0.34611	0.001000	0.13787	0.002000	0.18203	0.168000	0.20914	0.1985:0.7003:0.0:0.1013	5.405	0.15618	819	0.41190	.;TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2122.33	35	chr1	12104505	.	C	T	2122.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=845;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=1.23;SOR=0.677	GT:AD:DP:GQ:PL	0/1:77,83:160:99:2136,0,1676	18	0	1	0
chr1	12283436	12283436	T	A	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_015378:exon21:c.T5334A:p.S1778R,VPS13D:NM_018156:exon21:c.T5334A:p.S1778R	.	429	1061	31	1	0	33	0.0153132	.	.	.	1000131	Autosomal_recessive_cerebellar_ataxia-saccadic_intrusion_syndrome|not_provided|VPS13D-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0011811,MedGen:C1846492,OMIM:607317,Orphanet:95434|MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.00459697818591	0.0015	0.00119808	0.0019	0.0002	0.0004	0	0	0.0022	0.0011	0.0049	0.0019275	298	154602	rs144311414	0.0028	0.0028	0.0028	0.0029	0.0080	0.0028	0.0027	0.0061	0.0055	0.0006	0.0008	0.0010	0	3.744e-05	0.0080	0.0031	0.0022	0.0051	0.0015	0.0015	0.0016	0.0014	0.0062	0.0013	0.0013	0.0045	0.0039	0.0003	0	0.0012	0.0003	0	0	0.0034	0.0024	0	0.0062	.	.	.	0.028	0.54934	D	0.454	0.39027	P	0.079	0.34953	B	0.007065	0.31620	N	0.393442	0.789807	0.29239	N	2.015	0.55033	M	.	.	.	.	.	.	0.428	0.46742	-0.8954	0.48446	T	0.175	0.51816	T	10	0.005638957	0.00125	T	0.004597	0.11377	T	.	.	0.243	0.17677	0.043077524339	0.03247	0.5601176299730201	0.55938	.	.	0.49046677351	0.37504	T	0.099394	0.40416	T	-0.28773	0.09866	T	-0.185128	0.56046	T	0.0150723485041195	0.00326	T	0.892211	0.62852	D	0.08695029	0.20229	0.1291099	0.31051	0.094862394	0.22313	0.11825835	0.28545	-4.533	0.31318	T	0.3851731255117534	0.47907	0.281	0.51394	B	.;.	.;.	2.785098	0.36596	20.3	0.97657268752060011	0.35172	0.97738	0.76776	D	AEFBI	0.286125	0.39858	N	0.123605185959519	0.47566	2.980508	0.203207517300671	0.50025	3.19895	0.979737276432473	0.30060	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.92	4.8	0.61157	1.623000	0.36618	2.363000	0.32383	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.14:0.1392:0.7208	5.967	0.18565	540	0.73006	.;.	.	.	.	.	.	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	0.004028	0.000000	0.001359	0.005848	0.000000	0.000000	0.009146	0.007576	0.05263	3918.83	35	chr1	12283436	.	T	A	3918.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.11;DP=960;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.807;SOR=0.706	GT:AD:DP:GQ:PL	0/1:92,70:162:99:1690,0,2565	17	0	2	0
chr1	13392425	13392425	A	G	exonic	PRAMEF17	.	nonsynonymous SNV	PRAMEF17:NM_001099851:exon3:c.A1348G:p.I450V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00166570168474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	2.052e-06	2.726e-06	1.377e-06	0.0005	5.5e-07	1.5e-07	8.516e-05	3.547e-05	0	0	0	0	0	0.0005	0	1.661e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	0.10802	T	0.295	0.20680	T	0.598	0.39274	P	0.355	0.42984	B	0.412937	0.12972	N	0.706198	1	0.08975	N	1.115	0.28702	L	0.8	0.48769	T	-0.35	0.12847	N	0.048	0.01999	-1.0091	0.27198	T	0.074	0.29739	T	10	0.104703695	0.19316	T	0.00249	0.04953	T	0.057	0.16321	0.601	0.73226	0.043077524339	0.03247	0.09389650401082755	0.09321	2.22587521974	0.95901	0.491247147322	0.37611	T	0.019942	0.15791	T	-0.326036	0.06415	T	-0.706104	0.05499	T	0.20384493470192	0.20626	T	0.638636	0.25202	T	0.019880123	0.00529	0.026964532	0.00817	0.019880123	0.00529	0.026964532	0.00817	-3.306	0.13815	T	.	.	0.127	0.27039	B	.	.	-0.106248	0.03603	0.707	0.22235110037574327	0.00885	0.00259	0.01419	N	AEFI	0.017139	0.00430	N	-1.22450606969231	0.04647	0.2101605	-1.41538368242812	0.03098	0.14384	4.7612748825739E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.09	-1.61	0.07951	-0.068000	0.11519	-4.910000	0.01931	-0.300000	0.06199	0.001000	0.13787	0.000000	0.08366	0.015000	0.10482	0.4464:0.0:0.5536:0.0	4.511	0.11318	982	0.03397	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2008.33	61	chr1	13392425	.	A	G	2008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.613;DP=972;ExcessHet=0;FS=4.849;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.93;MQRankSum=1.06;QD=13.48;ReadPosRankSum=-0.16;SOR=0.917	GT:AD:DP:GQ:PL	0/1:71,78:149:99:2022,0,1955	18	0	1	0
chr1	15559540	15559540	G	C	exonic	DNAJC16	.	nonsynonymous SNV	DNAJC16:NM_001287811:exon7:c.G102C:p.K34N,DNAJC16:NM_015291:exon8:c.G1038C:p.K346N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0328347890655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0033	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	9.11e-05	2.242e-05	0.0002	0.0002	0.0002	0	0.0003	0.0002	6.995e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.40832	T	0.002	0.83351	D	0.998	0.73220	D	0.852	0.60758	P	0.000001	0.84330	D	0.092863	0.978976	0.25213	N	2.62	0.76659	M	2.29	0.17113	T	-1.14	0.29323	N	0.808	0.81658	-1.0776	0.07821	T	0.076	0.30492	T	10	0.615474	0.67681	D	0.032835	0.54554	D	0.109	0.30843	0.288	0.24761	0.361160317528	0.35726	0.7971393182230749	0.79666	0.675634459511	0.59719	0.593763709068	0.52025	T	0.024746	0.32281	T	-0.129001	0.31658	T	-0.423077	0.30724	T	0.763135969638824	0.44033	D	0.957038	0.84692	D	0.17311552	0.38042	0.10023495	0.23959	0.17311552	0.38041	0.10023495	0.23958	-3.109	0.43915	T	.	.	0.535	0.66159	A	.;.;.;.	.;.;.;.	4.221675	0.63864	24.6	0.99651966654979685	0.77380	0.89772	0.50455	D	AEFDGBCI	0.332943	0.43219	N	0.165367727067141	0.49541	3.153414	0.114872783977894	0.45307	2.796318	0.999975053923645	0.50053	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.674467	0.66132	0	.	.	5.95	4.1	0.47196	2.185000	0.42215	3.965000	0.40779	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.796000	0.37562	0.2241:0.0:0.7759:0.0	9.034	0.35440	906	0.23090	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1471	301.37	169	chr1	15559540	.	G	C	301.37	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-4.195;DP=1968;ExcessHet=1.3;FS=220.707;InbreedingCoeff=-0.1892;MLEAC=5;MLEAF=0.147;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=1.25;SOR=11.019	GT:AD:DP:GQ:PL	0/1:97,27:124:51:51,0,2269	12	0	5	2
chr1	15946303	15946303	G	A	exonic	ZBTB17	.	nonsynonymous SNV	ZBTB17:NM_001242884:exon4:c.C140T:p.P47L	.	415	1103	4	0	0	4	0.00180995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00927519163247	.	0.000399361	0.0004	9.636e-05	0	0	0	4.529e-05	0.0011	0.0029	0.0003493	54	154602	rs534144339	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0002	0.0028	0.0026	0	0.0001	0	2.526e-05	0	0.0009	2.886e-05	0.0003	0.0031	0.0001	0.0001	0.0001	9.394e-05	0.0023	7.569e-05	6.275e-05	0.0013	0.0010	4.809e-05	0	0.0001	0	0	0	0	4.41e-05	0	0.0023	0.225	0.18626	T	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	0.999906	0.27365	N	.	.	.	3.05	0.08721	T	-0.38	0.13418	N	0.321	0.36148	-0.9336	0.43605	T	0.011	0.03903	T	8	0.006472975	0.00146	T	0.009275	0.24343	T	0.035	0.08770	0.189	0.09907	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.721847	0.00027	T	-0.815207	0.01552	T	0.00973580716827649	0.00127	T	0.440756	0.12177	T	.	.	.	.	.	.	.	.	-3.699	0.19304	T	.	.	0.165	0.36455	B	.	.	1.797389	0.22847	15.78	0.77629425384889073	0.11956	0.18228	0.20173	N	AEFDBCI	0.066029	0.12908	N	-0.856257650193794	0.11897	0.5767326	-0.797608188024473	0.14554	0.7610319	0.999989075877565	0.51787	0.580535	0.33130	0	0.379588	0.06130	0	0.576033	0.28219	0	0.491896	0.07777	0	.	.	3.68	1.76	0.23776	0.740000	0.25856	0.621000	0.20131	0.676000	0.76740	0.279000	0.25131	0.012000	0.20211	0.996000	0.76049	0.2635:0.0:0.7365:0.0	5.490	0.16063	410	0.82135	.	.	.	.	.	.	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	2617.83	33	chr1	15946303	.	G	A	2617.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.148;DP=789;ExcessHet=0.119;FS=0.544;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=1.18;SOR=0.771	GT:AD:DP:GQ:PL	0/1:41,47:88:99:1227,0,1106	17	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	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.4737	51491.3	662	chr1	16563946	.	C	T	51491.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.392;DP=11359;ExcessHet=38.2876;FS=1.376;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.03;MQRankSum=-9.117;QD=4.97;ReadPosRankSum=0.26;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:331,197:528:99:0|1:16563782_C_A:4992,0,9358:16563782	1	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	.	.	.	.	.	.	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	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.4737	58952.3	662	chr1	16563989	.	G	C	58952.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.668;DP=14939;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.58;MQRankSum=-4.89;QD=4.25;ReadPosRankSum=-0.231;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:527,228:755:99:0|1:16563782_C_A:4743,0,14514:16563782	1	0	18	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	93987.4	684	chr1	16564144	.	C	T	93987.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.71;DP=11427;ExcessHet=48.2876;FS=0.565;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.33;MQRankSum=-18.63;QD=8.46;ReadPosRankSum=0.533;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:250,294:544:99:.:.:7949,0,7337:.	0	0	19	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	.	.	.	.	.	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	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.5	96026.4	662	chr1	16564149	.	C	T	96026.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.096;DP=10999;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.16;MQRankSum=6.94;QD=8.93;ReadPosRankSum=-0.939;SOR=0.695	GT:AD:DP:GQ:PL	0/1:456,82:538:99:981,0,16405	0	0	19	0
chr1	16564186	16564186	C	G	exonic	NBPF1	.	unknown	UNKNOWN	.	373	1100	49	0	0	49	0.0217875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0087	0.0025	0.0043	0	0.0106	0.0127	0.01	0.0034	0.0072444	1120	154602	rs200760413	0	2.379e-05	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.37509	.	.	.	.	.	.	.	0.007929355	0.00180	T	.	.	.	.	.	.	.	0.0884992946249	0.08302	0.07312084663879208	0.07249	.	.	0.449560642242	0.31884	T	.	.	.	-0.456395	0.01035	T	-0.535872	0.18705	T	.	.	.	0.973753	0.92190	D	.	.	.	.	.	.	.	.	-6.486	0.50178	T	.	.	0.619	0.69641	P	.;.	.;.	1.785020	0.22693	15.72	0.44714069370902609	0.03458	0.00541	0.02492	N	AEFBCI	0.039570	0.05765	N	.	.	.	.	.	.	2.85478778828593E-4	0.06355	0.071217	0.01513	1	0.046471	0.00084	3	0.066767	0.01867	0	0.123	0.03924	1	.	.	0.566	-1.13	0.09274	-0.422000	0.07110	-7.525000	0.01138	0.312000	0.19173	0.005000	0.17040	0.000000	0.08366	0.015000	0.10482	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) 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	0.036976	0.054945	0.042120	0.024793	0.000000	0.025862	0.026846	0.015873	0.07895	3394.79	120	chr1	16564186	.	C	G	3394.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.41;DP=4142;ExcessHet=0.3672;FS=1.765;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=51.95;MQRankSum=3.73;QD=2.98;ReadPosRankSum=2.19;SOR=0.845	GT:AD:DP:GQ:PL	0/1:326,51:377:99:661,0,10532	16	0	3	0
chr1	16567194	16567194	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	320	1198	4	0	0	4	0.00166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00201606055448	.	.	0.0015	0.0002	0.0010	0	0.0017	0.0021	0.0022	0.0006	3.84e-05	1	26028	rs201227350	1.521e-05	9.119e-05	4.614e-06	2.464e-05	4.432e-05	6.32e-06	5.06e-06	7.35e-06	2.75e-06	0	0	0	0	0	0	1.432e-05	3.826e-05	4.432e-05	0.0002	0.0008	0.0001	0.0002	0.0004	9.886e-05	8.248e-05	0.0002	0.0002	0.0004	0	0.0003	0	0	0	0	1.69e-05	0	0	.	.	.	0.073	0.43531	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.13055	.	.	.	.	.	.	.	0.026126415	0.00787	T	0.002016	0.03642	T	.	.	.	.	0.0482279557977	0.04254	0.0176024254427243	0.01715	.	.	0.494684576988	0.38088	T	.	.	.	-0.115579	0.33850	T	-0.403797	0.32943	T	.	.	.	0.524448	0.19565	T	.	.	.	.	.	.	.	.	-4.296	0.28121	T	.	.	0.184	0.40015	B	.;.	.;.	1.724927	0.21960	15.42	0.34755023133612578	0.02143	0.03879	0.09247	N	AEFDBHCI	0.027977	0.02381	N	.	.	.	.	.	.	0.475729541921844	0.20744	0.383005	0.05895	0	0.127614	0.03486	1	0.457825	0.06646	0	0.393	0.06807	0	.	.	.	.	.	0.142000	0.15917	-7.866000	0.01071	0.193000	0.17869	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) 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	0.009004	0.035354	0.004076	0.008197	0.000000	0.000000	0.000000	0.000000	0.05263	1509.83	169	chr1	16567194	.	C	T	1509.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.54;DP=4028;ExcessHet=0.119;FS=21.137;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=56.86;MQRankSum=-16.71;QD=1.57;ReadPosRankSum=-2.761;SOR=2.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:416,36:452:99:0|1:16567194_C_T:209,0,17262:16567194	17	0	2	0
chr1	16567196	16567196	C	A	exonic	NBPF1	.	unknown	UNKNOWN	.	321	1196	5	0	0	5	0.00208594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00170016907422	.	.	0.0015	0.0002	0.0010	0	0.0017	0.0021	0.0022	0.0007	3.84e-05	1	26028	rs4098127	1.514e-05	9.171e-05	9.186e-06	2.045e-05	2.216e-05	6.29e-06	4.05e-06	6.21e-06	3.79e-06	0	0	0	0	0	0	1.78e-05	3.811e-05	2.216e-05	0.0001	0.0008	0.0001	0.0001	0.0004	8.06e-05	6.639e-05	0.0002	0.0001	0.0003	0	0.0004	0	0	0	0	1.688e-05	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	0.020040601	0.00456	T	0.002	0.02830	T	.	.	.	.	0.242244723065	0.23846	0.017449181371216604	0.01699	.	.	0.515456080437	0.40988	T	.	.	.	-0.574816	0.00207	T	-1.06346	0.00053	T	.	.	.	0.754824	0.37774	T	.	.	.	.	.	.	.	.	1.678	0.00070	T	.	.	0.052	0.00452	B	.;.	.;.	-0.308216	0.02582	0.317	0.42360340498844201	0.03117	0.00419	0.02071	N	AEFDBHCI	0.013538	0.00184	N	.	.	.	.	.	.	0.991563087142619	0.32531	0.383005	0.05895	0	0.127614	0.03486	1	0.457825	0.06646	0	0.393	0.06807	0	.	.	.	.	.	-1.391000	0.02631	-8.709000	0.00926	-0.880000	0.02471	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) 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	0.005826	0.020202	0.002717	0.008197	0.000000	0.000000	0.000000	0.000000	0.05263	1537.83	169	chr1	16567196	.	C	A	1537.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.43;DP=4034;ExcessHet=0.119;FS=21.18;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=56.98;MQRankSum=-16.71;QD=1.6;ReadPosRankSum=-2.299;SOR=2.062	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:416,36:452:99:0|1:16567194_C_T:209,0,17262:16567194	17	0	2	0
chr1	16567206	16567206	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	322	1118	82	0	0	82	0.0353753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0064	.	0.0160	0.0048	0.0096	0.0272	0.0122	0.0165	0.0178	0.0214	0.0128912	1993	154602	rs3927566	0.0011	0.0037	0.0011	0.0011	0.0053	0.0010	0.0010	0.0029	0.0022	0.0004	0.0006	0.0058	0.0011	0.0004	0.0053	0.0010	0.0017	0.0009	0.0003	0.0015	0.0004	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0003	0.0010	0.0007	0.0004	0	0.0004	0.0011	0.0003	.	.	.	0.141	0.40426	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.21188	.	.	.	.	.	.	.	0.0049045384	0.00105	T	.	.	.	.	.	.	.	.	.	0.015363255238990382	0.01492	.	.	0.514282226562	0.40822	T	.	.	.	-0.544364	0.00315	T	-0.631423	0.10307	T	.	.	.	0.79622	0.43953	T	.	.	.	.	.	.	.	.	-4.885	0.35566	T	.	.	0.127	0.30318	B	.;.	.;.	1.264825	0.16631	12.66	0.42851535371219329	0.03186	0.01238	0.04371	N	AEFDBHCI	0.047698	0.08058	N	.	.	.	.	.	.	0.559270903784427	0.21400	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	.	.	.	-0.685000	0.05269	-1.776000	0.04747	-0.957000	0.01998	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) 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	0.033898	0.020202	0.027174	0.012295	0.050000	0.034483	0.057927	0.049618	0.07895	2243.79	169	chr1	16567206	.	G	A	2243.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.29;DP=5661;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=58.11;MQRankSum=-4.446;QD=0.95;ReadPosRankSum=-0.587;SOR=0.778	GT:AD:DP:GQ:PL	0/1:418,49:467:99:133,0,11288	16	0	3	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	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	0.224339	0.196970	0.248641	0.200820	0.150000	0.232759	0.243902	0.206107	0.3158	4689.72	124	chr1	16577387	.	T	C	4689.72	.	AC=12;AF=0.316;AN=38;BaseQRankSum=3.98;DP=6175;ExcessHet=11.1788;FS=5.824;InbreedingCoeff=-0.4482;MLEAC=12;MLEAF=0.316;MQ=43.71;MQRankSum=-4.317;QD=1.07;ReadPosRankSum=-1.392;SOR=1.273	GT:AD:DP:GQ:PL	0/1:433,45:478:99:141,0,11992	7	0	12	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.201754	0.190909	0.213499	0.135000	0.071429	0.254386	0.230469	0.197479	0.3947	6040.85	31	chr1	16579293	.	A	G	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=1.77;DP=1318;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.18;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.129;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,17:104:99:0|1:16579293_A_G:452,0,3567:16579293	4	0	15	0
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	.;.	.	.	.	.	.	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	0.180503	0.190909	0.186464	0.120000	0.071429	0.254386	0.206349	0.176471	0.3947	6040.85	31	chr1	16579294	.	T	C	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-5.638;DP=1314;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.15;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.044;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,17:104:99:0|1:16579293_A_G:452,0,3567:16579293	4	0	15	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.062183	0.039216	0.051247	0.070000	0.000000	0.098214	0.070866	0.060345	0.3421	3927.26	26	chr1	16579305	.	G	A	3927.26	.	AC=13;AF=0.342;AN=38;BaseQRankSum=3.46;DP=1255;ExcessHet=13.8672;FS=130.665;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.342;MQ=36.03;MQRankSum=0.61;QD=4.49;ReadPosRankSum=-0.348;SOR=6.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,13:98:99:0|1:16579305_G_A:279,0,3474:16579305	6	0	13	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	.;.	.	.	.	.	.	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	0.063613	0.029412	0.062500	0.055000	0.000000	0.098214	0.070866	0.068376	0.2895	1867.3	26	chr1	16579308	.	G	C	1867.3	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.811;DP=1250;ExcessHet=8.9063;FS=99.423;InbreedingCoeff=-0.4082;MLEAC=11;MLEAF=0.289;MQ=35.97;MQRankSum=0.588;QD=2.62;ReadPosRankSum=-0.44;SOR=7.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,12:96:99:0|1:16579305_G_A:251,0,3445:16579305	8	0	11	0
chr1	16591991	16591991	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	383	1060	79	0	0	79	0.0359254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0129792	0.0297	0.0079	0.0171	0.0005	0.0368	0.0429	0.0268	0.0118	0.0239389	3701	154602	rs199564458	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	2.238e-05	3.831e-05	0	0	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.197	0.27855	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.29197	.	.	.	.	.	.	.	0.003590405	0.00065	T	.	.	.	.	.	.	.	.	.	0.05074882340970097	0.05016	.	.	0.617227673531	0.55337	T	.	.	.	-0.342333	0.05228	T	-0.729514	0.04349	T	.	.	.	0.806819	0.45619	T	.	.	.	.	.	.	.	.	-7.512	0.57695	D	.	.	0.081	0.08465	B	.;.	.;.	-0.110497	0.03581	0.696	0.68576904222900414	0.08701	0.00301	0.01603	N	AEFDBHCIJ	0.037390	0.05136	N	.	.	.	.	.	.	0.99999989870109	0.74766	0.205481	0.04072	1	0.188433	0.04229	0	0.216804	0.04610	0	0.364879	0.05822	1	.	.	0.566	-1.13	0.09274	-3.599000	0.00468	-6.832000	0.01295	-4.637000	0.00024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	452	0.79239	.;.	.	.	.	.	.	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	0.044824	0.040816	0.053134	0.066116	0.050000	0.051724	0.040625	0.027344	0.1316	8656.37	608	chr1	16591991	.	C	T	8656.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.82;DP=8027;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=56.13;MQRankSum=-1.205;QD=2.61;ReadPosRankSum=-1.032;SOR=0.694	GT:AD:DP:GQ:PL	0/1:686,84:770:99:436,0,18444	14	0	5	0
chr1	16757526	16757526	C	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon14:c.G1900C:p.A634P	.	384	766	370	1	1	373	0.195378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	.	.	.	0.1053	0.0655	0.1365	0.0133	0.1064	0.1147	0.0930	0.1251	0.0830326	12837	154602	rs2446543	6.846e-06	7.593e-05	8.174e-06	5.505e-06	3.482e-05	3.46e-06	2.52e-06	9.25e-06	4.56e-06	2.99e-05	0	0	0	0	0	5.4e-06	0	3.482e-05	2.629e-05	0.0002	3.858e-05	1.344e-05	6.547e-05	8.14e-06	5.14e-06	1.172e-05	6.25e-06	0	0	6.547e-05	0	0	0	0	4.416e-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	.	.	.	.	.	.	.	.	0.2368	10174.8	362	chr1	16757526	.	C	G	10174.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.788;DP=7182;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=40.73;MQRankSum=-1.674;QD=3.1;ReadPosRankSum=0.131;SOR=0.642	GT:AD:DP:GQ:PL	0/1:270,53:323:99:719,0,7744	10	0	9	0
chr1	16758952	16758952	G	A	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon10:c.C1244T:p.P415L	.	333	1136	53	0	0	53	0.0227957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	.	.	0.0252	0.0141	0.0169	0	0.0352	0.0336	0.0278	0.0134	0.0211511	3270	154602	rs202225848	0.0008	0.0071	0.0008	0.0008	0.0009	0.0008	0.0007	0.0009	0.0009	0.0003	0.0003	0.0004	0	0.0003	0.0005	0.0009	0.0006	0.0007	0.0021	0.0095	0.0020	0.0022	0.0031	0.0019	0.0018	0.0024	0.0021	0.0006	0.0023	0.0031	0.0024	0	0.0047	0	0.0025	0.0025	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	3589.58	412	chr1	16758952	.	G	A	3589.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.07;DP=10167;ExcessHet=0.119;FS=5.322;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=50.32;MQRankSum=-4.417;QD=3.36;ReadPosRankSum=1.48;SOR=1.198	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:480,69:549:99:0|1:16758917_C_T:461,0,17301:16758917	16	0	2	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	11605.2	33	chr1	16759590	.	G	GC	11605.2	.	AC=25;AF=0.658;AN=38;BaseQRankSum=4.81;DP=1524;ExcessHet=5.6906;FS=11.534;InbreedingCoeff=-0.2845;MLEAC=25;MLEAF=0.658;MQ=44.88;MQRankSum=-2.822;QD=9.07;ReadPosRankSum=-3.116;SOR=0.816	GT:AD:DP:GQ:PL	0/1:60,10:70:99:143,0,1931	1	7	11	0
chr1	16760442	16760442	G	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.C387A:p.N129K	.	382	1064	76	0	0	76	0.0344828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	.	.	.	0.0106	0.0089	0.0060	0	0.0183	0.0138	0.0126	0.0040	3.84e-05	1	26028	rs772310681	0.0016	0.0086	0.0017	0.0015	0.0027	0.0015	0.0015	0.0017	0.0017	0.0004	0.0002	0.0007	0	0.0028	0.0027	0.0018	0.0011	0.0005	0.0009	0.0060	0.0009	0.0009	0.0012	0.0008	0.0007	0.0010	0.0009	0.0003	0	0.0008	0.0009	0	0.0017	0	0.0012	0.0020	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	2398.79	158	chr1	16760442	.	G	T	2398.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.524;DP=3653;ExcessHet=0.3672;FS=2.875;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=42.76;MQRankSum=-0.462;QD=3.56;ReadPosRankSum=-0.505;SOR=1.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,22:149:99:0|1:16760442_G_T:516,0,5256:16760442	16	0	3	0
chr1	16760445	16760446	AC	-	exonic	MST1L	.	frameshift deletion	MST1L:NM_001271733:exon4:c.383_384del:p.R128Qfs*3	.	382	1066	74	0	0	74	0.0335449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0107	0.0089	0.0060	0	0.0183	0.0139	0.0127	0.0041	0.001191	31	26028	rs748266310	0.0014	0.0085	0.0015	0.0013	0.0023	0.0013	0.0013	0.0015	0.0015	0.0003	0.0002	0.0007	0	0.0027	0.0023	0.0016	0.0010	0.0005	0.0008	0.0060	0.0008	0.0009	0.0011	0.0007	0.0007	0.0009	0.0008	0.0003	0	0.0009	0.0009	0	0.0015	0	0.0011	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	2353.75	158	chr1	16760444	.	TAC	T	2353.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.742;DP=3685;ExcessHet=0.3672;FS=5.613;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=43.11;MQRankSum=-0.727;QD=3.42;ReadPosRankSum=-0.201;SOR=1.23	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,22:155:99:0|1:16760442_G_T:498,0,5418:16760442	16	0	3	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	.	.	0.181909	0.2202	0.1841	0.2823	0.2424	0.2980	0.2226	0.2165	0.1673	0.0075808	1172	154602	rs28462251	1.288e-05	8.414e-05	1.139e-05	1.438e-05	8.359e-05	8.05e-06	6.64e-06	3.866e-05	2.726e-05	0	0	0	2.565e-05	9.971e-05	0	3.769e-06	1.724e-05	8.359e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	0.0001	9.611e-05	7.423e-05	0.0002	0	0	0	0	0.0009	0	0.0002	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	.	.	.	.	.	.	.	.	0.2632	6194.53	158	chr1	16760446	.	C	T	6194.53	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.09;DP=4206;ExcessHet=6.9875;FS=15.967;InbreedingCoeff=-0.3571;MLEAC=10;MLEAF=0.263;MQ=44.64;MQRankSum=-0.667;QD=2.69;ReadPosRankSum=0.492;SOR=1.882	GT:AD:DP:GQ:PL	0/1:104,27:153:99:623,0,2897	9	0	10	0
chr1	16760848	16760848	G	C	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon3:c.C241G:p.H81D	.	321	1179	22	0	0	22	0.0092437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	.	.	0.0022	0.0031	0.0012	0	0.0029	0.0027	0.0011	0.0013	0.0023609	365	154602	rs186420363	6.955e-05	0.0005	6.712e-05	7.2e-05	0.0007	5.818e-05	5.427e-05	0.0005	0.0004	0.0007	2.291e-05	0	0	1.894e-05	0	4.791e-05	5.004e-05	0.0002	0.0002	0.0014	0.0002	0.0002	0.0006	0.0002	0.0001	0.0004	0.0004	0.0006	0	6.575e-05	0.0006	0	0.0002	0	2.955e-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	.	.	.	.	.	.	.	.	0.07895	3896.79	315	chr1	16760848	.	G	C	3896.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.661;DP=9024;ExcessHet=0.3672;FS=3.522;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=57.61;MQRankSum=-10.22;QD=2.48;ReadPosRankSum=0.785;SOR=1.108	GT:AD:DP:GQ:PL	0/1:406,47:453:99:256,0,12734	16	0	3	0
chr1	21884636	21884636	C	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon13:c.G1549A:p.A517T,HSPG2:NM_005529:exon13:c.G1546A:p.A516T	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	279458	Lethal_Kniest-like_syndrome|Schwartz-Jampel_syndrome|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865|MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.235	0.0254161616422	0.0002	.	0.0001	0	0.0002	0	0	4.791e-05	0	0.0007	0.0001229	19	154602	rs147557804	0.0003	0.0003	0.0003	0.0003	0.0005	0.0003	0.0003	0.0004	0.0004	2.992e-05	0.0001	0	2.519e-05	0	0.0002	0.0004	0.0004	0.0005	0.0001	0.0001	0.0002	9.4e-05	0.0002	8.659e-05	7.251e-05	0.0001	8.88e-05	0.0001	0	0.0001	0	0	0	0	0.0002	0	0	0.322	0.13479	T	0.019	0.59159	D	0.952	0.54136	P	0.202	0.36942	B	0.047075	0.23379	N	0.214512	0.63246	0.32802	D	1.5	0.37844	L	-0.95	0.75438	T	-1.23	0.31170	N	0.476	0.51137	-0.3057	0.74826	T	0.231	0.59645	T	10	0.1269109	0.24131	T	0.025416	0.48390	D	0.235	0.53788	.	.	0.67809160095	0.67535	0.48288139231107513	0.48208	0.234172988239	0.25956	0.482409179211	0.36389	T	0.27463	0.64713	T	-0.346763	0.04934	T	-0.371714	0.36687	T	0.0542815899932296	0.06237	T	0.680532	0.28920	T	0.06672677	0.14383	0.06997411	0.14811	0.06672677	0.14383	0.06997411	0.14810	-3.491	0.16306	T	.	.	0.080	0.07745	B	.	.	3.575393	0.50375	22.9	0.99820035749427738	0.90326	0.64785	0.32520	D	AEFDBHCI	0.142500	0.26495	N	0.215747891756842	0.51962	3.373572	0.26882311609224	0.53727	3.540348	0.999951760728052	0.48110	0.67177	0.52595	0	0.69481	0.67340	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.64	3.58	0.40133	1.437000	0.34601	0.802000	0.21668	-0.189000	0.09497	0.685000	0.28485	0.231000	0.23784	0.973000	0.55318	0.2361:0.7639:0.0:0.0	13.039	0.58299	781	0.47532	.	.	.	.	.	.	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	0.001514	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.003817	0.02632	2173.33	33	chr1	21884636	.	C	T	2173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.879;DP=769;ExcessHet=0;FS=10.117;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.31;ReadPosRankSum=0.914;SOR=1.556	GT:AD:DP:GQ:PL	0/1:71,71:142:99:2187,0,2147	18	0	1	0
chr1	25328934	25328934	T	G	exonic	RHD	.	nonsynonymous SNV	RHD:NM_001282868:exon8:c.T1056G:p.H352Q,RHD:NM_001282869:exon8:c.T1110G:p.H370Q,RHD:NM_001282870:exon9:c.T1190G:p.I397S,RHD:NM_001282871:exon9:c.T1280G:p.I427S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00212636599221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	0.91255	T	0.013	0.63109	D	.	.	.	.	.	.	0.023927	0.26353	N	0.429039	1	0.08975	N	.	.	.	2.04	0.24285	T	0.75	0.05125	N	0.368	0.40963	-1.0443	0.16030	T	0.033	0.14160	T	9	0.069571406	0.10001	T	0.002126	0.03935	T	0.036	0.09122	0.495	0.58363	0.0762999501168	0.06990	0.10508250873985588	0.10438	.	.	.	.	.	.	.	.	-0.269294	0.11836	T	-0.624598	0.10828	T	0.191269531846046	0.19919	T	0.39816	0.13039	T	.	.	.	.	.	.	.	.	-2.904	0.09183	T	.	.	0.144	0.53119	B	.;.	.;.	0.985451	0.13630	10.16	0.90096228875678142	0.19379	0.02935	0.07754	N	AEFDGBI	0.084469	0.17118	N	-0.779259509183674	0.13852	0.6854228	-0.955666971255548	0.10791	0.5458377	0.0206746067152855	0.13280	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.2	-0.493	0.11437	-0.317000	0.08101	-0.980000	0.06715	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.908000	0.44358	0.0:0.3632:0.0:0.6368	4.525	0.11380	894	0.26265	Ammonium transporter AmtB-like domain;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02941	2082.13	33	chr1	25328934	.	T	G	2082.13	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.031;DP=704;ExcessHet=0;FS=3.944;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.029;MQ=52.14;MQRankSum=0.411;QD=13.26;ReadPosRankSum=-2.139;SOR=0.452	GT:AD:DP:GQ:PL	0/1:77,80:157:99:2095,0,2136	16	0	1	2
chr1	25782603	25782603	C	T	exonic	MAN1C1	.	nonsynonymous SNV	MAN1C1:NM_001385184:exon6:c.C1165T:p.R389W,MAN1C1:NM_001385185:exon10:c.C982T:p.R328W,MAN1C1:NM_001289010:exon11:c.C1669T:p.R557W,MAN1C1:NM_001385183:exon11:c.C1741T:p.R581W,MAN1C1:NM_020379:exon11:c.C1669T:p.R557W,MAN1C1:NM_001385182:exon12:c.C1771T:p.R591W	.	.	.	.	.	.	.	.	.	.	.	2685900	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.246	0.104510597986	.	.	3.297e-05	0	8.64e-05	0	0	2.999e-05	0	6.058e-05	2.59e-05	4	154602	rs760943548	1.095e-05	1.163e-05	9.531e-06	1.238e-05	4.472e-05	6.48e-06	5.25e-06	7.41e-06	3.88e-06	0	4.472e-05	0	0	0	0	9.894e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.99992	0.51308	D	3.18	0.88827	M	-0.85	0.74371	T	-7.35	0.94988	D	0.888	0.88798	-0.1297	0.79409	T	0.410	0.75866	T	10	0.91603416	0.90964	D	0.104511	0.77912	D	0.797	0.93346	0.753	0.88319	0.934691645215	0.93402	0.9342509533618304	0.93405	1.45662375788	0.86267	0.606934309006	0.53884	T	0.566622	0.87759	D	0.294121	0.82492	D	0.281562	0.87207	D	0.996235549449921	0.88931	D	0.987901	0.97045	D	0.844833	0.86957	0.7042201	0.82566	0.844833	0.86958	0.7042201	0.82567	-10.466	0.76651	D	.	.	0.419	0.60640	A	.;.;.	.;.;.	5.225963	0.87713	29.3	0.9989464842633986	0.96819	0.81461	0.40860	D	AEFBI	0.878447	0.80372	D	0.289674672303854	0.55623	3.726428	0.276889151289302	0.54192	3.585043	0.999986982539552	0.51787	0.643511	0.44296	0	0.563428	0.19063	0	0.688494	0.62686	0	0.620846	0.47308	0	.	.	5.0	4.06	0.46572	1.843000	0.38900	3.166000	0.36590	0.599000	0.40250	0.930000	0.32276	0.997000	0.33255	0.734000	0.35233	0.4342:0.5657:0.0:0.0	12.510	0.55346	614	0.66605	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2353.33	34	chr1	25782603	.	C	T	2353.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.037;DP=868;ExcessHet=0;FS=2.417;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.206;SOR=0.517	GT:AD:DP:GQ:PL	0/1:111,95:206:99:2367,0,2818	18	0	1	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	17994.5	37	chr1	26282374	.	ACC	*	17994.5	.	AC=8;AF=0.25;AN=32;BaseQRankSum=-0.73;DP=1069;ExcessHet=0.0541;FS=10.717;InbreedingCoeff=0.1965;MLEAC=9;MLEAF=0.281;MQ=60;MQRankSum=0;QD=23.31;ReadPosRankSum=1.35;SOR=0.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,32:72:99:0|1:26282270_C_T:2980,1627,1526:26282270	8	0	8	3
chr1	26282380	26282382	ACT	0	exonic	UBXN11	.	.	.	.	398	787	290	46	1	383	0.195297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	1020.95	37	chr1	26282380	.	ACT	*	1020.95	.	AC=12;AF=0.462;AN=26;BaseQRankSum=0.818;DP=1059;ExcessHet=0.0278;FS=14.798;InbreedingCoeff=0.1363;MLEAC=15;MLEAF=0.577;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.069;SOR=0.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,40:81:99:0|1:26282270_C_T:1500,0,1472:26282270	5	4	4	6
chr1	26282383	26282405	GGGGCCGGGACCGGGACCGGGAC	0	exonic	UBXN11	.	.	.	.	382	803	290	46	1	383	0.192153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	993.49	37	chr1	26282383	.	GGGGCCGGGACCGGGACCGGGAC	*	993.49	.	AC=12;AF=0.429;AN=28;BaseQRankSum=0.041;DP=1069;ExcessHet=0.0278;FS=15.846;InbreedingCoeff=0.1828;MLEAC=14;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=-0.087;SOR=0.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,40:81:99:0|1:26282270_C_T:1500,0,1472:26282270	6	4	4	5
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4062	7050.5	37	chr1	26282386	.	GCCGGGA	*	7050.5	.	AC=13;AF=0.406;AN=32;BaseQRankSum=0.405;DP=1110;ExcessHet=0.1862;FS=10.987;InbreedingCoeff=0.0738;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=1.39;SOR=0.236	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,40:72:99:0|1:26282270_C_T:2980,1342,1220:26282270	7	4	5	3
chr1	26294315	26294315	T	C	exonic	UBXN11	.	nonsynonymous SNV	UBXN11:NM_145345:exon8:c.A350G:p.Y117C,UBXN11:NM_183008:exon9:c.A449G:p.Y150C	.	424	1075	23	0	0	23	0.0105844	.	.	.	4020691	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.306	.	0.0085	0.00479233	0.0075	0.0021	0.0056	0	0.0039	0.0110	0.0089	0.0027	0.0074967	1159	154602	rs56039743	0.0081	0.0081	0.0081	0.0081	0.0094	0.0080	0.0080	0.0091	0.0091	0.0013	0.0080	0.0060	2.52e-05	0.0049	0.0094	0.0093	0.0077	0.0024	0.0073	0.0073	0.0072	0.0074	0.0138	0.0069	0.0068	0.0123	0.0117	0.0020	0	0.0138	0.0063	0	0.0033	0.0068	0.0107	0.0086	0.0023	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000059	0.53742	D	0.130665	0.997931	0.81001	D	3.09	0.87444	M	0.5	0.55608	T	-7.47	0.96650	D	0.888	0.89465	-0.4720	0.69655	T	0.203	0.56017	T	10	0.009522021	0.00215	T	.	.	.	0.306	0.62729	.	.	0.818815103583	0.81710	0.6959017511605471	0.69531	0.816803305336	0.66976	0.475634157658	0.35456	T	0.470849	0.80379	T	-0.280537	0.10611	T	-0.16536	0.57867	T	0.0576908197512842	0.06800	T	0.920308	0.75457	D	0.84115255	0.86691	0.6131216	0.77487	0.84115255	0.86692	0.6131216	0.77488	-9.808	0.72754	D	.	.	0.345	0.71484	A	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.930376	0.81284	27.5	0.99736209884532367	0.83119	0.88646	0.48672	D	AEFDBI	0.706819	0.66176	D	0.663422277386861	0.77239	6.636827	0.614251459734911	0.75972	6.406438	0.999999973302697	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.699875	0.68795	0	.	.	5.0	5.0	0.66209	4.257000	0.58607	7.780000	0.68649	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	12.377	0.54615	396	0.82953	.;.;.;.;.;.;.;.;.	.	.	.	.	rs56039743	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	0.012085	0.005051	0.010870	0.002924	0.100000	0.000000	0.027439	0.015152	0.02632	1067.33	39	chr1	26294315	.	T	C	1067.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.279;DP=704;ExcessHet=0;FS=2.897;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-1.447;SOR=0.954	GT:AD:DP:GQ:PL	0/1:39,44:83:99:1081,0,985	18	0	1	0
chr1	26554682	26554682	G	A	exonic	RPS6KA1	.	nonsynonymous SNV	RPS6KA1:NM_001006665:exon8:c.G727A:p.V243I,RPS6KA1:NM_001330441:exon8:c.G652A:p.V218I,RPS6KA1:NM_002953:exon9:c.G700A:p.V234I	.	425	1094	3	0	0	3	0.00136924	.	.	.	2292253	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.278	0.0217873372819	0.0003	0.000199681	0.0004	0	8.637e-05	0	0	0.0005	0.0011	0.0009	0.0003428	53	154602	rs141533618	0.0004	0.0004	0.0003	0.0004	0.0049	0.0004	0.0003	0.0035	0.0030	8.967e-05	6.714e-05	0.0040	0	0	0.0049	0.0003	0.0005	0.0011	0.0003	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0003	0.0002	2.406e-05	0	0.0002	0.0023	0	0	0.0034	0.0004	0.0005	0.0008	0.212	0.19500	T	0.248	0.24767	T	0.014	0.30546	B	0.012	0.24394	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.615	0.02190	N	0.03	0.62183	T	-0.86	0.23372	N	0.357	0.41360	-0.7591	0.57455	T	0.120	0.41865	T	10	0.020593107	0.00477	T	0.021787	0.44605	T	0.278	0.59497	.	.	0.511703644722	0.50811	0.467100860956812	0.46629	0.625160716341	0.56697	0.815209388733	0.84292	D	0.086498	0.37738	T	-0.2928	0.09356	T	-0.262186	0.48605	T	0.0660685642776311	0.08089	T	.	.	.	0.22766589	0.45472	0.15948509	0.37192	0.22766589	0.45472	0.15948509	0.37192	-10.182	0.74994	D	.	.	0.181	0.44267	B	.;.;.;.;.	.;.;.;.;.	5.425811	0.90754	31	0.99883093219846308	0.95892	0.98244	0.80876	D	AEFDGBI	0.874607	0.79757	D	0.00357769032128422	0.42017	2.523845	0.208367989483742	0.50312	3.22451	0.999999999995598	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	4.74	0.59717	8.142000	0.89535	9.950000	0.82721	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0749:0.0:0.9251:0.0	13.518	0.61008	350	0.85473	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.006793	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	2589.83	34	chr1	26554682	.	G	A	2589.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.622;DP=858;ExcessHet=0.119;FS=1.084;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.3;SOR=0.778	GT:AD:DP:GQ:PL	0/1:43,64:107:99:1670,0,1018	17	0	2	0
chr1	32895376	32895376	C	T	exonic	TMEM54	.	nonsynonymous SNV	TMEM54:NM_001329723:exon4:c.G463A:p.V155I,TMEM54:NM_001329725:exon4:c.G364A:p.V122I,TMEM54:NM_001329722:exon5:c.G523A:p.V175I,TMEM54:NM_001329724:exon5:c.G424A:p.V142I,TMEM54:NM_033504:exon5:c.G523A:p.V175I	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0176524243056	.	0.00159744	0.0010	0	0	0	0	0.0001	0.0012	0.0071	0.0008926	138	154602	rs201782944	0.0004	0.0004	0.0002	0.0006	0.0058	0.0004	0.0004	0.0054	0.0052	0	6.71e-05	0	0	0	0.0014	4.227e-05	0.0003	0.0058	0.0002	0.0002	0.0001	0.0003	0.0046	0.0001	0.0001	0.0031	0.0026	2.405e-05	0	0	0	0	0	0	5.881e-05	0	0.0046	0.615	0.05388	T	0.105	0.38016	T	0.716	0.68779	P	0.384	0.78936	B	0.000061	0.53742	D	0.165546	0.823402	0.28853	N	2.35	0.67516	M	0.85	0.47130	T	-0.72	0.20358	N	0.156	0.20395	-0.7102	0.59942	T	0.262	0.63274	T	10	0.008969128	0.00203	T	0.017652	0.39432	T	0.134	0.36365	.	.	0.250579442822	0.24687	0.12451235045586118	0.12377	0.374654094666	0.38927	0.327181398869	0.14508	T	0.034478	0.23338	T	-0.467585	0.00880	T	-0.441401	0.28651	T	0.042104994601202	0.04074	T	0.669433	0.27806	T	0.03777665	0.04907	0.06150169	0.11885	0.03777665	0.04906	0.06150169	0.11884	-3.749	0.20044	T	.	.	0.095	0.16973	B	.;.	.;.	0.013710	0.04377	1.129	0.82352979316055452	0.14148	0.12834	0.17507	N	AEFDBI	0.228540	0.35219	N	-0.104409101810001	0.37201	2.160904	-0.143588619193883	0.33655	1.927489	0.999370985513007	0.39355	0.706298	0.61202	0	0.610034	0.51514	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.38	4.47	0.53770	0.164000	0.16359	0.263000	0.16568	-0.812000	0.03057	0.000000	0.06391	0.009000	0.19889	0.043000	0.14563	0.0:0.8616:0.1384:0.0	15.602	0.76375	479	0.77495	.;.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05263	1987.83	33	chr1	32895376	.	C	T	1987.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.097;DP=739;ExcessHet=0.119;FS=0.644;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=-0.099;SOR=0.621	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1185,0,995	17	0	2	0
chr1	39492025	39492025	G	A	exonic	BMP8A	.	nonsynonymous SNV	BMP8A:NM_181809:exon1:c.G34A:p.G12S	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.656188739897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.701e-06	6.586e-06	1.308e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.043	0.41364	D	0.13	0.34716	T	0.816	0.45573	P	0.227	0.38084	B	0.816208	0.09213	U	0.878189	0.92712	0.27152	N	0.97	0.24054	L	-0.86	0.74477	T	-1.17	0.29933	N	0.448	0.48596	-0.9480	0.41313	T	0.183	0.53179	T	9	0.50068676	0.61530	D	0.656189	0.97102	D	0.192	0.47115	0.29	0.25081	0.824745103265	0.82308	0.5200325448103265	0.51926	1.48240043888	0.86736	0.876004219055	0.93415	D	0.10797	0.42061	T	-0.0720115	0.41005	T	-0.341216	0.40205	T	0.289742482562874	0.24579	T	0.608239	0.22965	T	0.12359168	0.29018	0.18099938	0.40935	0.12359168	0.29018	0.18099938	0.40935	-4.846	0.35123	T	.	.	0.217	0.44694	B	.	.	2.741396	0.35911	20.1	0.84782669585835002	0.15495	0.65711	0.32829	D	AEFBCI	0.243474	0.36475	N	-0.229984844844981	0.31909	1.794032	-0.185314555162299	0.32074	1.821297	0.999965907412973	0.48965	0.495885	0.18260	0	0.491552	0.07993	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	3.68	3.68	0.41359	3.665000	0.54270	3.683000	0.39473	0.484000	0.22197	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.0:1.0:0.0	13.223	0.59327	697	0.58201	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	222.33	24	chr1	39492025	.	G	A	222.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=514;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.49;SOR=1.085	GT:AD:DP:GQ:PL	0/1:6,10:16:99:236,0,100	18	0	1	0
chr1	39762564	39762564	C	A	exonic	PPIE	.	nonsynonymous SNV	PPIE:NM_001195007:exon10:c.C885A:p.N295K	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00127766643086	.	0.000199681	0.0001	0	0.0040	0	0	0.0002	0	0	1.94e-05	3	154602	rs562516798	5.508e-05	5.336e-05	5.081e-05	5.946e-05	0.0012	4.473e-05	4.133e-05	0.0009	0.0008	0	0	7.943e-05	0.0012	0	0	1.576e-05	0.0001	0.0001	0.0001	0.0001	8.994e-05	0.0001	0.0023	6.506e-05	5.318e-05	0.0013	0.0010	0	0	0	0	0.0023	0	0	4.411e-05	0.0005	0	0.02	0.49613	D	0.756	0.04703	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.1	0.08283	T	0.1	0.05810	N	0.15	0.15328	-0.9614	0.38916	T	0.012	0.04795	T	9	0.009309471	0.00210	T	0.001278	0.01759	T	0.024	0.04979	0.455	0.51938	0.243187853663	0.23924	0.36295485141563344	0.36209	0.550695722903	0.51928	0.305660367012	0.11252	T	.	.	.	-0.687959	0.00043	T	-0.774212	0.02632	T	0.0146769757465272	0.00304	T	0.29617	0.05481	T	.	.	.	.	.	.	.	.	-2.336	0.04756	T	.	.	0.108	0.20391	B	.	.	0.624266	0.09926	6.685	0.49588523475857527	0.04236	0.04103	0.09571	N	AEFBI	0.036163	0.04774	N	-1.14995987016419	0.05780	0.264405	-1.2563008867082	0.05038	0.2391271	9.39473591946399E-5	0.04910	0.580535	0.33130	0	0.379588	0.06130	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	0.844	-0.287	0.12222	0.079000	0.14636	-1.064000	0.06442	0.507000	0.23093	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.0:0.5917:0.4083:0.0	4.65	0.11976	69	0.97055	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	74.33	33	chr1	39762564	.	C	A	74.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.336;DP=670;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=-2.31;SOR=0.883	GT:AD:DP:GQ:PL	0/1:39,9:48:88:88,0,1013	18	0	1	0
chr1	40315652	40315652	C	T	exonic	COL9A2	.	nonsynonymous SNV	COL9A2:NM_001852:exon2:c.G88A:p.G30R	Epiphyseal dysplasia, multiple, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	864382	Epiphyseal_dysplasia,_multiple,_2|not_provided	MONDO:MONDO:0010844,MedGen:C1838429,OMIM:600204|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.296	0.492644435496	.	0.000798722	0.0005	0	0	0.0028	0	0	0	0.0009	0.0001164	18	154602	rs193238892	8.635e-05	9.029e-05	7.466e-05	9.835e-05	0.0019	7.374e-05	6.904e-05	0.0015	0.0014	0	0	0	0.0019	0	0.0002	9.261e-07	0.0002	0.0005	5.909e-05	5.905e-05	3.855e-05	8.054e-05	0.0010	3.075e-05	2.208e-05	0.0004	0.0002	0	0	0	0	0.0010	0	0	0	0	0.0008	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000005	0.62929	D	0.106414	0.999899	0.50595	D	4.36	0.98503	H	-5.77	0.99345	D	-5.41	0.96191	D	0.768	0.76573	0.832	0.94800	D	0.981	0.99421	D	10	0.39637804	0.55256	T	0.492644	0.95024	D	0.883	0.96576	0.494	0.58206	0.952629067819	0.95213	0.9100984180028403	0.90983	0.308530585448	0.33167	0.928664326668	0.98910	D	0.594742	0.86925	D	0.119891	0.66360	D	0.320177	0.89098	D	0.824615180492401	0.48118	D	0.967253	0.88140	D	0.7771808	0.82481	0.78027993	0.87046	0.7771808	0.82482	0.78027993	0.87047	-12.469	0.87060	D	.	.	0.701	0.81990	P	.;.	.;.	5.040781	0.83904	28.2	0.99809410888314665	0.89353	0.78006	0.38424	D	AEFDBHCI	0.820912	0.74159	D	0.93581331116815	0.93401	12.01492	0.830612077662137	0.91833	11.09286	0.999999999999999	0.74766	0.652421	0.48094	0	0.484254	0.07192	0	0.64067	0.45733	0	0.603991	0.37454	0	.	.	5.27	5.27	0.73797	4.841000	0.62523	7.461000	0.59055	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	14.375	0.66432	409	0.82198	.;.	.	.	.	.	.	Likely benign	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	1	0	0.000522	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.05263	1036.83	34	chr1	40315652	.	C	T	1036.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.43;DP=689;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.299;SOR=0.727	GT:AD:DP:GQ:PL	0/1:31,20:51:99:586,0,763	17	0	2	0
chr1	40784316	40784316	G	A	exonic	KCNQ4	.	nonsynonymous SNV	KCNQ4:NM_004700:exon1:c.G223A:p.A75T,KCNQ4:NM_172163:exon1:c.G223A:p.A75T	Deafness, autosomal dominant 2A, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	YES	1917457	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.409	0.963712075536	.	.	0.0002	0	0	0	0.0017	0.0003	0.0016	0	0.0001423	22	154602	rs775367552	7.633e-05	7.798e-05	8.215e-05	7.046e-05	3.872e-05	6.457e-05	6.036e-05	2.917e-05	2.593e-05	0	2.245e-05	0	2.528e-05	0.0011	0	3.872e-05	0.0002	1.161e-05	0.0001	0.0001	0.0001	0.0001	0.0004	6.524e-05	5.333e-05	6.899e-05	2.884e-05	0	0	0	0	0.0004	0.0010	0	5.897e-05	0	0	0.065	0.40573	T	0.456	0.12740	T	0.793	0.44725	P	0.207	0.37187	B	0.000043	0.53742	U	0.000000	0.988769	0.40824	D	1.39	0.34934	L	-5.2	0.98852	D	-0.51	0.15986	N	0.107	0.12770	0.562	0.91399	D	0.797	0.93114	D	10	0.11134869	0.20846	T	0.963712	0.99767	D	0.409	0.72099	0.227	0.15257	0.718871984191	0.71639	0.44290984932753147	0.44207	1.18988157068	0.80255	0.93302077055	0.99149	D	0.217586	0.58007	T	-0.147719	0.28669	T	-0.201655	0.54488	T	0.065343193410337	0.07982	T	0.714629	0.32694	T	0.12672128	0.29674	0.07932401	0.17847	0.12672128	0.29673	0.07932401	0.17846	-5.011	0.37452	T	0.12020135751014885	0.11280	0.088	0.11510	B	.;.;.	.;.;.	4.262293	0.64784	24.7	0.99608880392007293	0.74694	0.85147	0.44256	D	AEFDBHCI	0.610698	0.59942	D	-0.146345026840222	0.35390	2.032156	-0.0977518615324067	0.35483	2.053408	0.999999912345626	0.74766	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	2.29	2.29	0.27658	2.256000	0.42886	5.281000	0.48180	0.503000	0.22915	0.989000	0.36753	1.000000	0.68203	0.978000	0.57271	0.0:0.0:0.7011:0.2989	6.209	0.19831	730	0.54327	.;.;.	.	.	.	.	.	Likely benign	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	1	0	.	.	.	.	.	.	.	.	0.02632	1251.33	33	chr1	40784316	.	G	A	1251.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.526;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=-2.964;SOR=0.784	GT:AD:DP:GQ:PL	0/1:26,52:78:99:1265,0,542	18	0	1	0
chr1	42842639	42842639	G	A	exonic	ERMAP	.	nonsynonymous SNV	ERMAP:NM_018538:exon11:c.G835A:p.V279I,ERMAP:NM_001017922:exon12:c.G835A:p.V279I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	0.0002	0.00279553	0.0009	9.61e-05	0.0003	0.0092	0.0002	0.0001	0.0022	0.0008	0.0008279	128	154602	rs144048339	0.0003	0.0003	0.0003	0.0003	0.0046	0.0003	0.0002	0.0041	0.0039	2.987e-05	8.944e-05	0.0001	0.0046	1.872e-05	0.0003	9.263e-05	0.0006	0.0009	0.0004	0.0004	0.0003	0.0005	0.0099	0.0003	0.0003	0.0077	0.0069	2.407e-05	0	0	0	0.0099	0	0	8.82e-05	0	0.0010	0.393	0.10730	T	0.713	0.05470	T	1.0	0.90584	D	0.997	0.86255	D	0.064503	0.21948	N	0.424952	1	0.08975	N	1.065	0.27018	L	2.85	0.10578	T	-0.27	0.11366	N	0.061	0.03283	-1.0638	0.10831	T	0.029	0.12453	T	10	0.004298836	0.00086	T	.	.	.	0.071	0.20720	.	.	0.15556083564	0.15200	0.2061214561723195	0.20529	0.500056325963	0.48431	0.325548022985	0.14261	T	0.003963	0.03373	T	-0.572238	0.00215	T	-0.585361	0.14069	T	0.0340724794719423	0.02650	T	0.209679	0.02524	T	0.05985538	0.12215	0.07723031	0.17182	0.0686512	0.14973	0.0648982	0.13074	-4.782	0.34380	T	.	.	0.161	0.35602	B	.;.	.;.	2.265683	0.28955	17.97	0.99454521386768391	0.65479	0.12376	0.17231	N	AEFBI	0.116042	0.22790	N	-0.168133187266367	0.34466	1.967594	-0.296762369213067	0.28205	1.570725	0.953034753146316	0.28050	0.615465	0.37627	0	0.53679	0.11191	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	4.91	4.0	0.45673	0.007000	0.13074	9.987000	0.82961	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.512000	0.29290	0.1904:0.0:0.8096:0.0	7.449	0.26398	670	0.60992	SPRY-associated|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated;SPRY-associated|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05263	3381.83	33	chr1	42842639	.	G	A	3381.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.678;DP=829;ExcessHet=0.119;FS=3.758;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=0.528;SOR=0.913	GT:AD:DP:GQ:PL	0/1:52,63:115:99:1533,0,1211	17	0	2	0
chr1	43222837	43222837	-	CAC	exonic	CFAP57	.	nonframeshift insertion	CFAP57:NM_001195831:exon16:c.2546_2547insCAC:p.V849_R850insT,CFAP57:NM_001378189:exon16:c.2546_2547insCAC:p.V849_R850insT	.	2	1507	12	1	0	14	0.00462351	.	.	.	3197253	CFAP57-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00638978	0.0160	0.0016	0.0055	0.0047	0	0	0	0.0431	0.0003842	10	26028	rs549638533	0.0022	0.0021	0.0015	0.0028	0.0248	0.0021	0.0021	0.0239	0.0235	0.0002	0.0005	0	0.0030	2.084e-05	0.0039	0.0007	0.0029	0.0248	0.0013	0.0013	0.0008	0.0019	0.0237	0.0012	0.0011	0.0202	0.0189	0.0003	0	0.0003	0	0.0056	0	0.0102	0.0006	0.0005	0.0237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1049.29	34	chr1	43222837	.	T	TCAC	1049.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=692;ExcessHet=0;FS=1.114;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.18;ReadPosRankSum=-1.487;SOR=0.941	GT:AD:DP:GQ:PL	0/1:24,28:52:99:1063,0,903	18	0	1	0
chr1	43273146	43273146	C	T	exonic	TMEM125	.	nonsynonymous SNV	TMEM125:NM_001320244:exon4:c.C424T:p.R142W,TMEM125:NM_144626:exon4:c.C424T:p.R142W	.	402	1118	2	0	0	2	0.000893655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0398850038249	.	0.000399361	0.0002	0	0.0002	0.0020	0	1.682e-05	0	0.0002	0.0001682	26	154602	rs569478207	0.0001	0.0001	0.0001	0.0001	0.0013	9.545e-05	9.025e-05	0.0010	0.0009	0	0.0002	0	0.0013	0	0.0003	6.298e-05	0.0002	0.0002	7.878e-05	7.873e-05	2.57e-05	0.0001	0.0014	4.493e-05	3.509e-05	0.0006	0.0004	0	0	6.533e-05	0	0.0014	0	0	2.941e-05	0	0.0004	0.003	0.68238	D	0.02	0.58613	D	0.017	0.17573	B	0.004	0.10090	B	0.028905	0.25531	N	0.406223	0.998438	0.22156	N	2.045	0.56016	M	0.78	0.49358	T	-4.26	0.76174	D	0.258	0.29197	-0.9974	0.30646	T	0.086	0.33354	T	10	0.00991565	0.00222	T	0.039885	0.59065	D	0.066	0.19193	0.413	0.45052	0.246215685461	0.24236	0.39545051292008093	0.39460	0.463055183834	0.45820	0.49998024106	0.38825	T	0.078626	0.35937	T	-0.466805	0.00890	T	-0.467937	0.25739	T	0.107689600708889	0.13182	T	0.889511	0.62170	D	0.132534	0.30857	0.13186069	0.31654	0.132534	0.30857	0.13186069	0.31653	-3.236	0.12926	T	.	.	0.125	0.26419	B	.;.	.;.	2.673502	0.34861	19.74	0.96874321672265817	0.31434	0.20056	0.20898	N	AEFDBHCI	0.278264	0.39258	N	-1.32816852021958	0.03357	0.1498017	-1.29832853643974	0.04454	0.2101083	0.710879469589419	0.22818	0.634777	0.41761	0	0.59043	0.45803	0	0.643519	0.47002	0	0.562822	0.20929	0	.	.	4.96	1.65	0.23015	0.392000	0.20527	1.783000	0.28733	-0.171000	0.11205	0.039000	0.20931	0.743000	0.26496	0.841000	0.39698	0.3062:0.6262:0.0:0.0676	11.385	0.49021	498	0.76166	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1630.33	43	chr1	43273146	.	C	T	1630.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=844;ExcessHet=0;FS=3.4;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=-0.219;SOR=0.51	GT:AD:DP:GQ:PL	0/1:53,61:114:99:1644,0,1206	18	0	1	0
chr1	43283030	43283030	C	T	exonic	C1orf210	.	nonsynonymous SNV	C1orf210:NM_001164829:exon3:c.G97A:p.V33M,C1orf210:NM_182517:exon3:c.G97A:p.V33M	.	391	1130	1	0	0	1	0.000442282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0329547528108	0.0004	0.00119808	0.0005	9.733e-05	0	0.0028	0	0.0005	0	0.0006	0.0004722	73	154602	rs184222741	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0017	0.0016	2.987e-05	2.236e-05	0.0051	0.0021	0	0.0002	2.248e-05	0.0008	0.0004	0.0003	0.0003	0.0003	0.0003	0.0037	0.0002	0.0002	0.0024	0.0020	0	0	0	0.0058	0.0037	0	0	4.411e-05	0	0.0008	0.037	0.43085	D	0.103	0.38305	T	0.994	0.66517	D	0.864	0.61462	P	0.020420	0.27045	N	0.337920	0.650858	0.30534	N	2.71	0.79292	M	0.8	0.48769	T	-1.46	0.35792	N	0.243	0.45803	-0.6355	0.63337	T	0.171	0.51229	T	10	0.009920925	0.00222	T	0.032955	0.54641	D	0.073	0.21317	.	.	0.501685917333	0.49804	0.5321725104097316	0.53142	0.55488461018	0.52210	.	.	.	0.043201	0.26427	T	-0.435287	0.01379	T	-0.39722	0.33709	T	0.0519698236404119	0.05843	T	0.763624	0.39028	T	0.08256864	0.19028	0.10789564	0.25981	0.08256864	0.19028	0.10789564	0.25981	-5.961	0.45952	T	.	.	0.175	0.38372	B	.;.	.;.	4.184655	0.63024	24.5	0.9985151774795028	0.93102	0.88277	0.48132	D	AEFBI	0.247822	0.36833	N	0.443584810960088	0.63839	4.625662	0.389244027210623	0.60902	4.283106	0.997918239133457	0.36186	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.96	4.96	0.65153	1.984000	0.40279	1.780000	0.28708	0.587000	0.30956	0.980000	0.35271	0.929000	0.28499	0.856000	0.40543	0.2913:0.7087:0.0:0.0	10.936	0.46459	514	0.74853	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	2020.83	33	chr1	43283030	.	C	T	2020.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.19;DP=768;ExcessHet=0.119;FS=0.568;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.62;SOR=0.743	GT:AD:DP:GQ:PL	0/1:53,43:96:99:1127,0,1431	17	0	2	0
chr1	43346584	43346584	A	G	exonic	MPL	.	nonsynonymous SNV	MPL:NM_005373:exon7:c.A1120G:p.T374A	Myelofibrosis with myeloid metaplasia, somatic;Thrombocythemia 2, Autosomal dominant, Somatic mutation;Thrombocytopenia, congenital amegakaryocytic, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	138577	Thrombocythemia_2|Congenital_amegakaryocytic_thrombocytopenia|Primary_myelofibrosis|Essential_thrombocythemia|not_specified|Thrombocythemia_1|not_provided|Congenital_amegakaryocytic_thrombocytopenia_1	MONDO:MONDO:0011173,MedGen:C3275998,OMIM:601977|MONDO:MONDO:0800451,MedGen:C1327915,OMIM:PS604498,Orphanet:3319|MONDO:MONDO:0009692,MeSH:D055728,MedGen:C0001815,OMIM:254450,Orphanet:824|MONDO:MONDO:0005029,MeSH:D013920,MedGen:C0040028,Orphanet:3318|MedGen:CN169374|MONDO:MONDO:0008554,MedGen:C3277671,OMIM:187950|MedGen:C3661900|MONDO:MONDO:0800452,MedGen:C5882667,OMIM:604498,Orphanet:3319	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.169	.	.	0.00559105	0.0031	0	0.0003	0.0266	0	5.995e-05	0.0033	0.0079	0.0027878	431	154602	rs190983971	0.0012	0.0012	0.0009	0.0015	0.0189	0.0012	0.0011	0.0177	0.0173	5.974e-05	0.0002	0	0.0189	0	0.0005	6.025e-05	0.0042	0.0078	0.0013	0.0013	0.0012	0.0014	0.0245	0.0011	0.0011	0.0211	0.0198	9.626e-05	0	0.0008	0	0.0245	0	0	1.471e-05	0.0038	0.0087	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.211197	0.16362	N	0.660669	0.999992	0.08975	N	-0.97	0.01230	N	-1.54	0.81640	D	0.04	0.06488	N	0.061	0.03283	-0.9684	0.37530	T	0.071	0.28969	T	10	0.0020261705	0.00029	T	.	.	.	0.169	0.43123	.	.	0.496036935653	0.49239	0.12280271784034485	0.12206	0.184258357792	0.20723	0.294538021088	0.09589	T	0.213503	0.57485	T	-0.587963	0.00172	T	-0.597073	0.13057	T	0.00141769740675991	0.00014	T	0.173583	0.01657	T	0.035918612	0.04319	0.036811136	0.03203	0.029512392	0.02458	0.039224092	0.03965	-2.73	0.07558	T	0.17373984107126314	0.22027	0.058	0.01233	B	.;.	.;.	1.115241	0.15006	11.51	0.5240398232137331	0.04742	0.01531	0.05040	N	AEFDBI	0.027453	0.02244	N	-1.05963361468103	0.07399	0.343642	-0.817905415695293	0.14062	0.7328151	0.996032498152874	0.34482	0.616025	0.39624	0	0.573888	0.26702	0	0.574621	0.27300	0	0.613276	0.41899	0	.	.	5.31	3.19	0.35720	0.302000	0.18947	2.168000	0.31032	-0.873000	0.02525	0.008000	0.17931	0.131000	0.23000	0.895000	0.43227	0.3488:0.0:0.6512:0.0	7.516	0.26770	730	0.54327	.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	3074.83	37	chr1	43346584	.	A	G	3074.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.91;DP=890;ExcessHet=0.119;FS=1.486;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=1.24;SOR=0.799	GT:AD:DP:GQ:PL	0/1:63,57:120:99:1409,0,1492	17	0	2	0
chr1	45344859	45344859	T	C	exonic	TESK2	.	nonsynonymous SNV	TESK2:NM_001320800:exon10:c.A1448G:p.Q483R,TESK2:NM_007170:exon11:c.A1697G:p.Q566R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.0553581991809	0.0002	0.000599042	0.0012	0	0	0.0022	0.0082	0.0010	0.0011	0.0003	0.0009573	148	154602	rs201686349	0.0006	0.0006	0.0005	0.0006	0.0016	0.0005	0.0005	0.0013	0.0012	0	0	0	0.0016	0.0084	0	0.0002	0.0006	0.0002	0.0008	0.0008	0.0005	0.0011	0.0027	0.0007	0.0007	0.0016	0.0013	2.405e-05	0	0	0	0.0027	0.0067	0	0.0005	0.0005	0.0006	0.001	0.78490	D	0.236	0.26306	T	0.557	0.38282	P	0.215	0.37512	B	0.000224	0.47286	D	0.000000	0.938885	0.26851	N	0.69	0.16971	N	-0.87	0.74583	T	-0.51	0.15986	N	0.092	0.07125	-0.7039	0.60251	T	0.198	0.55357	T	10	0.004639566	0.00097	T	0.055358	0.66203	D	0.204	0.49076	.	.	0.796832274202	0.79494	0.21981009853643374	0.21897	0.212251864129	0.23721	0.329840302467	0.14910	T	0.005457	0.04911	T	-0.348629	0.04814	T	-0.280822	0.46720	T	0.0602743314906627	0.07212	T	0.727827	0.34232	T	0.17023857	0.37587	0.15921907	0.37143	0.17023857	0.37587	0.15921907	0.37142	-3.609	0.18553	T	.	.	0.075	0.05317	B	.;.	.;.	1.651941	0.21074	15.04	0.94290672718820201	0.24593	0.86814	0.46178	D	AEFDBHCI	0.129747	0.24803	N	-0.161973729405255	0.34726	1.985716	-0.0827423907659708	0.36103	2.096856	0.999996704616312	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.152031	0.04041	3	.	.	4.97	3.86	0.43689	-0.112000	0.10762	1.425000	0.26398	0.665000	0.62972	0.001000	0.13787	1.000000	0.68203	0.135000	0.19760	0.0:0.1009:0.0:0.8991	6.816	0.23017	141	0.94388	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1364.33	34	chr1	45344859	.	T	C	1364.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.213;DP=761;ExcessHet=0;FS=1.481;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.877;SOR=0.532	GT:AD:DP:GQ:PL	0/1:62,58:120:99:1378,0,1608	18	0	1	0
chr1	45495163	45495163	G	A	exonic	CCDC163	.	nonsynonymous SNV	CCDC163:NM_001102601:exon5:c.C334T:p.P112S,CCDC163:NM_001358407:exon5:c.C394T:p.P132S	.	427	1085	9	0	1	10	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0014	0.00539137	0.0048	0.0002	0.0031	0.0151	0.0100	0.0045	0.0033	0.0023	0.0043337	670	154602	rs41269111	0.0052	0.0052	0.0056	0.0049	0.0305	0.0051	0.0050	0.0290	0.0284	0.0003	0.0020	0.0004	0.0305	0.0112	0.0017	0.0034	0.0034	0.0026	0.0029	0.0029	0.0025	0.0033	0.0182	0.0027	0.0026	0.0152	0.0141	0.0003	0	0.0009	0.0006	0.0182	0.0097	0	0.0028	0.0038	0.0035	.	.	.	0.787	0.04234	T	.	.	.	.	.	.	.	.	.	.	1	0.21167	N	.	.	.	.	.	.	.	.	.	0.058	0.02964	-0.9987	0.30283	T	0.011	0.04369	T	7	0.0041374266	0.00081	T	.	.	.	.	.	.	.	0.139678290688	0.13603	.	.	.	.	.	.	.	.	.	.	-0.656203	0.00066	T	-0.704978	0.05558	T	0.0161007737384643	0.00388	T	0.293771	0.05407	T	0.032977376	0.03426	0.081028625	0.18381	0.032977376	0.03426	0.081028625	0.18380	-2.826	0.08425	T	.	.	0.094	0.14660	B	.	.	0.850291	0.12221	8.768	0.57033361069222743	0.05680	0.01211	0.04306	N	AEFDBI	0.024971	0.01634	N	-0.861747344038771	0.11762	0.5694302	-0.787665024047613	0.14798	0.7750697	0.00953128751066465	0.11871	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.51	2.17	0.26736	0.970000	0.28980	5.237000	0.48050	-0.163000	0.11536	0.997000	0.40164	1.000000	0.68203	0.835000	0.39381	0.6947:0.202:0.1033:0.0	4.405	0.10833	165	0.93588	.	.	.	.	.	rs41269111	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	.	.	.	.	.	.	.	.	0.02632	683.33	33	chr1	45495163	.	G	A	683.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.07;DP=687;ExcessHet=0;FS=2.388;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-1.028;SOR=1.118	GT:AD:DP:GQ:PL	0/1:25,26:51:99:697,0,700	18	0	1	0
chr1	45499366	45499430	GATACAGCCACTGCTACAGAAGAAACAGATGCACAGGCCAATGAGCTCTGTGGAGACCCCAAGAG	-	exonic	CCDC163	.	frameshift deletion	CCDC163:NM_001102601:exon2:c.92_156del:p.P31Lfs*9,CCDC163:NM_001358406:exon2:c.92_156del:p.P31Lfs*9,CCDC163:NM_001358407:exon2:c.92_156del:p.P31Lfs*9	.	417	1096	9	0	0	9	0.00408905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0	0.0031	0.0133	0.0090	0.0037	0.0045	0.0016	0.0001153	3	26028	.	0.0038	0.0048	0.0040	0.0036	0.0240	0.0037	0.0036	0.0227	0.0221	0.0002	0.0008	0.0001	0.0240	0.0091	0.0012	0.0023	0.0023	0.0015	0.0028	0.0029	0.0024	0.0032	0.0179	0.0026	0.0025	0.0150	0.0139	0.0003	0	0.0009	0.0006	0.0179	0.0093	0	0.0026	0.0038	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1805.29	35	chr1	45499365	.	AGATACAGCCACTGCTACAGAAGAAACAGATGCACAGGCCAATGAGCTCTGTGGAGACCCCAAGAG	A	1805.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.54;DP=828;ExcessHet=0;FS=3.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.75;MQRankSum=-3.369;QD=9.81;ReadPosRankSum=-1.615;SOR=1.006	GT:AD:DP:GQ:PL	0/1:127,57:184:99:1819,0,4914	18	0	1	0
chr1	45584177	45584177	G	C	exonic	NASP	.	nonsynonymous SNV	NASP:NM_001195193:exon1:c.G31C:p.V11L,NASP:NM_002482:exon1:c.G31C:p.V11L,NASP:NM_152298:exon1:c.G31C:p.V11L	.	427	1087	8	0	0	8	0.00366636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0011	0.0061901	0.0089	0.0005	0.0061	0.0329	0.0324	0.0088	0.0094	0.0032	0.0037386	578	154602	rs28365868	0.0036	0.0036	0.0036	0.0035	0.0363	0.0035	0.0034	0.0348	0.0341	0.0003	0.0018	0.0004	0.0363	0.0101	0.0017	0.0024	0.0033	0.0025	0.0030	0.0030	0.0026	0.0034	0.0214	0.0028	0.0027	0.0182	0.0170	0.0003	0	0.0010	0.0006	0.0214	0.0093	0	0.0029	0.0019	0.0033	0.154	0.50676	T	0.419	0.51112	T	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	1	0.81001	D	-0.205	0.04094	N	0.75	0.50192	T	-0.14	0.18248	N	0.249	0.35938	-1.0989	0.04227	T	0.015	0.05946	T	9	0.0021989346	0.00032	T	.	.	.	0.033	0.08068	.	.	0.229924730088	0.22615	0.25934229043646	0.25848	0.0300485160316	0.03099	0.363088935614	0.19835	T	0.012884	0.36550	T	-0.538852	0.00340	T	-0.507324	0.21590	T	0.0331594826771414	0.02498	T	0.887511	0.62170	D	0.071098186	0.15715	0.16805266	0.38735	0.071098186	0.15715	0.16805266	0.38734	-5.239	0.52171	T	.	.	0.108	0.45798	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.808899	0.36971	20.4	0.96578311849568188	0.30322	0.17456	0.19845	N	ALL	0.380458	0.46309	N	-0.718322679373107	0.15507	0.7820918	-0.557177531923536	0.20615	1.111513	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	3.9	1.63	0.22882	0.441000	0.21325	4.221000	0.42593	-0.142000	0.12367	0.990000	0.36992	1.000000	0.68203	0.989000	0.64315	0.7561:0.0:0.2439:0.0	5.088	0.14029	200	0.92234	.;.;.;.;.;.;.;.;.;.	.	.	.	.	rs28365868	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	0.002541	0.000000	0.001359	0.000000	0.000000	0.000000	0.012346	0.003817	0.02632	1540.33	35	chr1	45584177	.	G	C	1540.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.012;DP=740;ExcessHet=0;FS=0.758;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-0.242;SOR=0.564	GT:AD:DP:GQ:PL	0/1:41,61:102:99:1554,0,968	18	0	1	0
chr1	45803954	45803954	A	T	exonic	MAST2	.	nonsynonymous SNV	MAST2:NM_001319245:exon1:c.A59T:p.D20V,MAST2:NM_001324320:exon1:c.A59T:p.D20V,MAST2:NM_015112:exon1:c.A59T:p.D20V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	.	.	0.00579073	0	0	.	.	.	0	0	0	0.0021131	55	26028	rs374873750	0.0037	0.0028	0.0038	0.0036	0.0442	0.0036	0.0036	0.0421	0.0412	0.0005	0.0015	0.0004	0.0442	0.0097	0.0024	0.0022	0.0027	0.0022	0.0029	0.0029	0.0024	0.0034	0.0199	0.0027	0.0026	0.0168	0.0156	0.0003	0	0.0010	0.0006	0.0199	0.0093	0	0.0027	0.0019	0.0038	0.002	0.72154	D	0.307	0.19908	T	0.994	0.66517	D	0.987	0.77487	D	.	.	.	.	0.999706	0.48635	D	1.39	0.34934	L	-0.02	0.62918	T	-0.15	0.09297	N	0.31	0.34981	-0.6891	0.60950	T	0.241	0.60953	T	9	0.0069071352	0.00157	T	.	.	.	0.249	0.55752	0.16	0.06396	0.683625273122	0.68092	0.2168538981102643	0.21601	0.317324952291	0.33977	0.924408376217	0.98640	D	0.007029	0.06451	T	-0.235145	0.15974	T	-0.0733013	0.65390	T	0.301133530228204	0.25051	T	0.639136	0.25234	T	0.16075072	0.36038	0.33545047	0.59359	0.16075072	0.36038	0.33545047	0.59358	-3.317	0.13958	T	.	.	0.140	0.30634	B	.	.	3.838854	0.55534	23.6	0.90729797003299484	0.19980	0.37953	0.25878	N	AEFBHCI	0.110044	0.21836	N	0.121514821608166	0.47469	2.972076	0.0247683002423151	0.40868	2.445919	0.999999109871936	0.74766	0.242642	0.04205	2	0.298843	0.05288	2	0.231153	0.04653	2	0.492483	0.08430	1	.	.	2.62	2.62	0.30337	1.259000	0.32559	9.279000	0.79698	0.703000	0.85290	1.000000	0.71638	1.000000	0.68203	0.184000	0.21420	1.0:0.0:0.0:0.0	7.106	0.24541	119	0.95208	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	145.84	1	chr1	45803954	.	A	T	145.84	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.465;DP=131;ExcessHet=0;FS=3.68;InbreedingCoeff=-0.045;MLEAC=1;MLEAF=0.026;MQ=52.37;MQRankSum=-0.566;QD=20.83;ReadPosRankSum=0;SOR=1.108	GT:AD:DP:GQ:PL	0/1:1,6:7:21:159,0,21	18	0	1	0
chr1	52402167	52402167	C	G	exonic	ORC1	.	nonsynonymous SNV	ORC1:NM_001190818:exon2:c.G57C:p.R19S,ORC1:NM_001190819:exon2:c.G57C:p.R19S,ORC1:NM_004153:exon2:c.G57C:p.R19S	Meier-Gorlin syndrome 1, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	249981	not_provided|not_specified|ORC1-related_disorder|Meier-Gorlin_syndrome_1	MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690,Orphanet:2554	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.046	0.00517856032185	0.0056	0.00179712	0.0041	0.0013	0.0004	0	0.0032	0.0068	0.0055	0.0003	0.0044178	683	154602	rs3087473	0.0070	0.0070	0.0073	0.0067	0.0086	0.0069	0.0068	0.0085	0.0084	0.0014	0.0020	0.0004	0	0.0031	0	0.0086	0.0053	0.0003	0.0045	0.0045	0.0050	0.0039	0.0078	0.0042	0.0041	0.0073	0.0071	0.0014	0.0197	0.0026	0.0003	0	0.0018	0	0.0078	0.0052	0	0.01	0.56456	D	0.058	0.46182	T	0.016	0.17332	B	0.004	0.10090	B	0.026818	0.25858	N	0.463537	0.999984	0.18198	N	1.43	0.35840	L	1.03	0.40469	T	-1.05	0.27463	N	0.1	0.08227	-1.0619	0.11288	T	0.057	0.23980	T	10	0.005469382	0.00121	T	0.005179	0.13187	T	0.046	0.12618	0.337	0.32654	0.525049811399	0.52150	0.40925480443161805	0.40841	0.17403807574	0.19594	0.28115093708	0.07653	T	0.012799	0.11182	T	-0.471546	0.00831	T	-0.443581	0.28407	T	0.00554624121956402	0.00060	T	0.589041	0.21605	T	0.095302746	0.22426	0.07030395	0.14919	0.120449856	0.28342	0.0867425	0.20115	-4.748	0.33979	T	0.31276433788098723	0.41070	0.189	0.40730	B	.;.	.;.	1.366380	0.17758	13.35	0.98638134780046571	0.44015	0.09500	0.15242	N	AEFBCI	0.140717	0.26269	N	-0.426546745186433	0.24543	1.325905	-0.341100050440938	0.26785	1.48178	0.999998827220318	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.48	2.45	0.28953	-0.214000	0.09296	0.886000	0.22434	-0.188000	0.09543	0.032000	0.20554	0.941000	0.28781	0.956000	0.50813	0.1707:0.6486:0.0:0.1807	4.760	0.12478	329	0.86514	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	2747.83	41	chr1	52402167	.	C	G	2747.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.65;DP=849;ExcessHet=0.119;FS=1.581;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.71;SOR=0.813	GT:AD:DP:GQ:PL	0/1:68,49:117:99:1273,0,1709	17	0	2	0
chr1	62803787	62803787	A	G	exonic	ATG4C	.	startloss	ATG4C:NM_032852:exon2:c.A1G:p.M1?,ATG4C:NM_178221:exon2:c.A1G:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.0354454869305	.	.	.	.	.	.	.	.	.	.	.	.	.	rs909957525	1.383e-06	2.736e-06	1.376e-06	1.389e-06	3.065e-05	2.3e-07	9e-08	.	.	3.065e-05	0	0	0	0	0	9.062e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.59928	D	0.0	0.92824	D	0.144	0.27697	B	0.051	0.25434	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	-0.82	0.22508	N	0.809	0.80473	-0.8553	0.51599	T	0.125	0.42966	T	8	0.9628942	0.95722	D	0.035445	0.56350	D	0.387	0.70358	0.999	0.99990	0.385249989106	0.38142	0.4853835204178859	0.48458	.	.	.	.	.	0.011177	0.39445	T	0.439916	0.92018	D	0.394133	0.91920	D	0.989492297172546	0.79728	D	0.9	0.65058	D	0.40396515	0.61006	0.36873424	0.62158	0.40396515	0.61007	0.36873424	0.62157	-5.989	0.46188	T	.	.	.	.	.	.;.;.;.	.;.;.;.	3.417855	0.47442	22.5	0.98188138593683361	0.39010	0.99319	0.94436	D	AEFBI	0.135903	0.25639	N	0.137692467605171	0.48229	3.037901	0.281189561039733	0.54440	3.609145	0.999999847206299	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.98	4.98	0.65679	7.614000	0.82196	11.143000	0.87128	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.663	0.68498	895	0.25842	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	3957.77	34	chr1	62803787	.	A	G	3957.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.063;DP=783;ExcessHet=0;FS=1.433;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=22.62;ReadPosRankSum=2.83;SOR=0.547	GT:AD:DP:GQ:PL	1/1:0,95:95:99:2985,285,0	17	1	1	0
chr1	74480875	74480875	A	G	exonic	LRRC53	.	nonsynonymous SNV	LRRC53:NM_001364666:exon2:c.T86C:p.L29P,LRRC53:NM_001382280:exon3:c.T182C:p.L61P	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.055334561429	.	.	.	.	.	.	.	.	.	.	.	.	.	rs900793612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.013	0.63109	D	.	.	.	.	.	.	0.022231	0.26675	N	0.173017	1	0.81001	D	.	.	.	0.62	0.53302	T	-2.41	0.52938	N	0.697	0.70175	-0.9704	0.37115	T	0.098	0.36780	T	7	0.7303786	0.74257	D	0.055335	0.66196	D	0.256	0.56694	0.688	0.82558	0.591908371553	0.58867	0.784853682621117	0.78436	.	.	.	.	.	0.019136	0.15304	T	0.0460248	0.57831	T	-0.171665	0.57291	T	0.953827857971191	0.64118	D	0.443756	0.12347	T	0.2407524	0.46983	0.33702976	0.59497	0.2407524	0.46982	0.33702976	0.59497	-11.193	0.80706	D	.	.	0.839	0.79163	P	.	.	4.512821	0.70686	25.6	0.99858587720573222	0.93729	0.81834	0.41160	D	AEFGI	0.474690	0.51884	N	0.169556874524073	0.49741	3.171114	0.222771325832424	0.51114	3.296736	0.00123158839198154	0.08362	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.46	4.33	0.51083	3.479000	0.52928	6.050000	0.53084	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.7741:0.0:0.0797:0.1462	5.902	0.18212	741	0.52966	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	2346.83	35	chr1	74480875	.	A	G	2346.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.455;DP=782;ExcessHet=0.119;FS=2.583;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.383;SOR=0.527	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1336,0,1479	17	0	2	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3667	2786.57	79	chr1	85158757	.	C	G	2786.57	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-0.484;DP=1521;ExcessHet=8.9063;FS=149.533;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.433;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=0.467;SOR=10.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,13:84:74:.:.:74,0,1233:.	4	0	11	4
chr1	88983825	88983825	-	TTTTTTTTTTT	exonic	RBMXL1	.	startloss	RBMXL1:NM_019610:exon2:c.1_2insAAAAAAAAAAA:p.M1?,RBMXL1:NM_001162536:exon3:c.1_2insAAAAAAAAAAA:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0006	0.0002	0.0006	0.0006	0.0002	0	0.0001	3.84e-05	1	26028	rs772008437	5.336e-06	0.0017	3.565e-06	7.1e-06	3.931e-05	1.92e-06	1.26e-06	1.11e-06	7.5e-07	3.931e-05	2.77e-05	0	0	0	0	4.73e-06	0	0	5.196e-05	0.0002	2.881e-05	7.656e-05	0.0002	2.356e-05	1.685e-05	5.405e-05	3.53e-05	0.0001	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	766.48	114	chr1	88983825	.	A	ATTTTTTTTTTT	766.48	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.337;DP=1931;ExcessHet=0.3672;FS=4.551;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=58.71;MQRankSum=-8.05;QD=2.27;ReadPosRankSum=-0.246;SOR=1.204	GT:AD:DP:GQ:PL	0/1:113,5:127:99:229,0,4787	17	0	2	0
chr1	92837472	92837472	G	A	exonic	RPL5	.	nonsynonymous SNV	RPL5:NM_000969:exon6:c.G544A:p.G182S	Diamond-Blackfan anemia 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0152286512874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.047	0.48855	D	0.791	0.44643	P	0.31	0.41396	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.45	0.92227	M	-0.09	0.64086	T	-4.62	0.79143	D	0.752	0.75101	-0.7023	0.60328	T	0.169	0.50842	T	10	0.64603287	0.69331	D	0.015229	0.35841	T	0.426	0.73372	0.278	0.23164	0.795191802402	0.79328	0.7477859275065755	0.74724	0.637711510295	0.57507	0.889997959137	0.95260	D	0.55203	0.84849	D	0.251545	0.78746	D	0.12355	0.78470	D	0.995254993438721	0.87099	D	0.849215	0.53152	T	0.9778958	0.98945	0.95998216	0.98971	0.9778958	0.98945	0.95998216	0.98971	-12.92	0.89031	D	.	.	0.996	0.95886	P	.;.;.	.;.;.	6.153875	0.94681	34	0.99727544669347401	0.82549	0.97603	0.75838	D	AEFBCI	0.959328	0.97959	D	0.584320836166797	0.72196	5.767752	0.661417333061842	0.79462	7.087847	1.0	0.98316	0.722319	0.85440	0	0.685571	0.66316	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.4	5.4	0.77957	9.890000	0.98578	11.875000	0.98678	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.546	0.95291	326	0.86709	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1527.33	33	chr1	92837472	.	G	A	1527.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.454;DP=741;ExcessHet=0;FS=5.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.297;SOR=1.22	GT:AD:DP:GQ:PL	0/1:58,59:117:99:1541,0,1444	18	0	1	0
chr1	93239851	93239851	T	G	exonic	CCDC18	.	stopgain	CCDC18:NM_001306076:exon21:c.T2933G:p.L978X,CCDC18:NM_001378204:exon21:c.T2936G:p.L979X,CCDC18:NM_206886:exon21:c.T2936G:p.L979X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	.	.	8.314e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs764868486	3.423e-06	3.42e-06	5.45e-06	1.376e-06	4.499e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.499e-06	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.018426	0.27485	N	0.291167	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.457	0.49420	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468487	0.93276	D	0.435172	0.93191	D	0.994761526584625	0.86260	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	8.377605	0.97493	37	0.99169982792758415	0.54355	0.86003	0.45206	D	AEFBCI	0.682655	0.64560	D	0.964087512073847	0.94527	12.82842	0.790583216188882	0.89132	9.850697	0.868090131995479	0.25359	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.528226	0.09195	0	.	.	5.73	5.73	0.89730	4.290000	0.58812	.	.	0.665000	0.62972	0.979000	0.35152	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.019	0.80268	436	0.80373	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2143	335.28	35	chr1	93239851	.	T	G	335.28	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.706;DP=810;ExcessHet=0.4139;FS=553.302;InbreedingCoeff=-0.3127;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=0.642;SOR=8.813	GT:AD:DP:GQ:PL	0/1:42,8:50:3:3,0,953	4	0	3	12
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H,AGL:NM_000642:exon19:c.T2491C:p.Y831H,AGL:NM_000643:exon19:c.T2491C:p.Y831H,AGL:NM_000644:exon19:c.T2491C:p.Y831H,AGL:NM_000646:exon19:c.T2443C:p.Y815H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central 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	.	.	.	.	.	.	.	.	0.3947	4455.13	82	chr1	99884396	.	T	C	4455.13	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-4.146;DP=2242;ExcessHet=20.8569;FS=143.104;InbreedingCoeff=-0.6543;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.3;SOR=12.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:111,20:131:97:.:.:97,0,4044:.	4	0	15	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T,AGL:NM_000642:exon19:c.T2495C:p.I832T,AGL:NM_000643:exon19:c.T2495C:p.I832T,AGL:NM_000644:exon19:c.T2495C:p.I832T,AGL:NM_000646:exon19:c.T2447C:p.I816T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central 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	.	.	.	.	.	.	.	.	0.2105	2128.93	50	chr1	99884400	.	T	C	2128.93	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.929;DP=2013;ExcessHet=4.0268;FS=140.901;InbreedingCoeff=-0.2737;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=2.14;ReadPosRankSum=1.54;SOR=11.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,25:124:99:.:.:318,0,3316:.	11	0	8	0
chr1	109281797	109281797	C	T	exonic	PSRC1	.	nonsynonymous SNV	PSRC1:NM_001350237:exon3:c.G341A:p.R114Q,PSRC1:NM_001005290:exon4:c.G341A:p.R114Q,PSRC1:NM_001032291:exon4:c.G341A:p.R114Q,PSRC1:NM_001350238:exon4:c.G341A:p.R114Q,PSRC1:NM_001350239:exon4:c.G341A:p.R114Q,PSRC1:NM_001350240:exon4:c.G341A:p.R114Q,PSRC1:NM_001350241:exon4:c.G341A:p.R114Q,PSRC1:NM_001350242:exon4:c.G341A:p.R114Q,PSRC1:NM_001363309:exon4:c.G341A:p.R114Q,PSRC1:NM_032636:exon4:c.G341A:p.R114Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.0330745783129	.	.	4.147e-05	0	0.0004	0	0	0	0	0	3.23e-05	5	154602	rs763036707	6.157e-06	6.84e-06	6.806e-06	5.5e-06	6.708e-05	2.9e-06	2.1e-06	1.779e-05	8.93e-06	2.987e-05	6.708e-05	0	2.519e-05	0	0	2.698e-06	1.656e-05	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	0.578016	0.32350	D	2.585	0.75554	M	0.11	0.61326	T	-3.59	0.69714	D	0.835	0.93370	-0.4375	0.70813	T	0.300	0.67139	T	10	0.44302624	0.58222	T	0.033075	0.54726	D	0.212	0.50341	0.173	0.07894	0.796404153784	0.79450	0.4314419515230392	0.43061	0.775738584094	0.65018	0.607339501381	0.53940	T	0.350655	0.74575	T	0.143851	0.68690	D	0.238155	0.85059	D	0.961098074913025	0.65986	D	0.916008	0.70013	D	0.788236	0.83163	0.6588137	0.80015	0.788236	0.83164	0.6588137	0.80016	-6.175	0.47720	T	.	.	0.790	0.82066	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.352097	0.89774	31	0.99949446137861242	0.99931	0.93482	0.58337	D	AEFDBHI	0.790261	0.71920	D	0.762672395295818	0.83726	8.093885	0.75512370060861	0.86539	8.921817	0.999999944938351	0.74766	0.72623	0.87236	0	0.627608	0.54475	0	0.594344	0.31042	0	0.605231	0.38476	0	.	.	5.74	5.74	0.90070	4.997000	0.63662	7.640000	0.63152	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	15.418	0.74711	650	0.62973	.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	92.33	34	chr1	109281797	.	C	T	92.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.321;DP=789;ExcessHet=0;FS=102.953;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=0.922;SOR=6.592	GT:AD:DP:GQ:PL	0/1:111,26:137:99:106,0,2557	18	0	1	0
chr1	109508616	109508616	G	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.C297G:p.N99K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00471979587979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.402e-05	0.0008	2.459e-05	2.345e-05	0.0002	1.744e-05	1.544e-05	2.006e-05	1.747e-05	5.989e-05	0	0	0	0	0.0002	2.799e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.096	0.39340	T	0.375	0.34209	B	0.25	0.39011	B	0.023848	0.26367	N	0.283710	0.989351	0.40936	D	-0.805	0.01590	N	4.38	0.02255	T	-0.42	0.14193	N	0.251	0.32481	-0.9074	0.47168	T	0.002	0.00526	T	10	0.13895068	0.26423	T	0.00472	0.11753	T	0.048	0.13305	0.424	0.46857	0.303871581278	0.30001	0.3848348631254194	0.38398	1.20472787136	0.80666	0.608450233936	0.54097	T	0.010575	0.09538	T	-0.290714	0.09565	T	-0.655367	0.08582	T	0.544324159622192	0.34265	D	0.79742	0.44137	T	0.08433104	0.19514	0.09508742	0.22536	0.08433104	0.19513	0.09508742	0.22536	-4.691	0.33295	T	.	.	0.266	0.50527	B	.;.	.;.	1.875938	0.23830	16.17	0.98865697297219557	0.47545	0.82763	0.41947	D	AEFBCI	0.391245	0.46976	N	-0.506877925592794	0.21857	1.163021	-0.39326206815582	0.25196	1.384239	0.905472008325259	0.26205	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	1.09	0.19517	1.118000	0.30860	3.404000	0.38147	0.676000	0.76740	0.809000	0.29839	1.000000	0.68203	1.000000	0.97212	0.304:0.0:0.696:0.0	9.065	0.35621	615	0.66512	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2941	1618.97	110	chr1	109508616	.	G	C	1618.97	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.579;DP=1667;ExcessHet=6.9875;FS=173.456;InbreedingCoeff=-0.4061;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=1.36;SOR=9.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,25:114:58:.:.:58,0,1990:.	7	0	10	2
chr1	110222977	110222977	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C692G:p.A231G,KCNC4:NM_001377330:exon2:c.C692G:p.A231G,KCNC4:NM_004978:exon2:c.C692G:p.A231G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	2216.57	41	chr1	110222977	.	C	G	2216.57	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.991;DP=2097;ExcessHet=6.9875;FS=75.345;InbreedingCoeff=-0.4467;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=1.23;SOR=10.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,26:126:99:0|1:110222977_C_G:239,0,3501:110222977	7	0	10	2
chr1	110222980	110222980	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695G:p.S232C,KCNC4:NM_001377330:exon2:c.C695G:p.S232C,KCNC4:NM_004978:exon2:c.C695G:p.S232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.929	0.40933610176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.636e-05	0.0009	7.295e-05	5.971e-05	8.013e-05	5.553e-05	5.161e-05	6.603e-05	6.157e-05	3.015e-05	0	0	2.525e-05	0	0	8.013e-05	6.68e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.992	0.90584	D	0.945	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.905	0.96153	H	-4.48	0.97606	D	-4.53	0.78388	D	0.831	0.82660	1.099	0.99607	D	0.949	0.98331	D	10	0.8837731	0.87697	D	0.409336	0.93564	D	0.929	0.98304	0.653	0.79068	0.998239969463	0.99822	0.9428938060723817	0.94271	2.16590570783	0.95413	0.900061309338	0.96447	D	0.865354	0.97046	D	0.507574	0.94527	D	0.491319	0.94446	D	0.996615469455719	0.89714	D	0.968103	0.88413	D	0.81521255	0.84899	0.67973554	0.81184	0.81521255	0.84900	0.67973554	0.81185	-14.23	0.93792	D	.	.	0.990	0.93569	P	.;.;.	.;.;.	5.345809	0.89688	31	0.99023122748486747	0.50634	0.99055	0.90567	D	AEFDGBI	0.873031	0.79518	D	0.820546623686913	0.87372	9.195578	0.766985295263051	0.87421	9.215925	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	7.905000	0.86479	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport 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	.	.	.	.	.	.	.	.	0.2895	2139.97	41	chr1	110222980	.	C	G	2139.97	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-4.477;DP=2106;ExcessHet=8.9063;FS=71.671;InbreedingCoeff=-0.4138;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.5;ReadPosRankSum=1.45;SOR=10.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,26:128:99:0|1:110222977_C_G:234,0,3529:110222977	8	0	11	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T,SLC16A1:NM_003051: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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	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	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3684	2088.26	101	chr1	112913901	.	C	G	2088.26	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.359;DP=1774;ExcessHet=17.0548;FS=69.726;InbreedingCoeff=-0.5826;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=1.26;SOR=10.398	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:70,22:92:99:.:.:169,0,1240:.	5	0	14	0
chr1	113590590	113590590	G	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G870C:p.E290D,MAGI3:NM_152900:exon5:c.G870C:p.E290D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00487564636394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0045	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	2.242e-05	0	5.08e-05	0	0	0.0002	0.0002	7.081e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.03085	T	1.0	0.04079	T	0.069	0.23796	B	0.051	0.25434	B	0.000007	0.62929	D	0.142947	0.643051	0.32894	D	1.54	0.38927	L	2.69	0.14783	T	1.32	0.01107	N	0.162	0.19995	-1.0079	0.27572	T	0.007	0.02399	T	10	0.03753224	0.02113	T	0.004876	0.12224	T	0.122	0.33800	0.268	0.21576	0.143184338766	0.13958	0.2702843826030742	0.26941	0.165123761365	0.18624	0.563049614429	0.47698	T	0.039485	0.25206	T	-0.238336	0.15562	T	-0.580129	0.14534	T	0.164513646206508	0.18199	T	0.848015	0.52922	T	0.07584618	0.17116	0.059709318	0.11252	0.07584618	0.17115	0.059709318	0.11251	-8.114	0.61845	D	.	.	0.077	0.06205	B	.;.;.;.	.;.;.;.	2.279428	0.29141	18.03	0.061631012715648595	0.00020	0.49120	0.28361	N	AEFDI	0.108624	0.21602	N	-0.944723580309123	0.09811	0.4660299	-0.857016727595564	0.13119	0.6788146	4.96757964133831E-4	0.07150	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	-0.268	0.12295	-0.048000	0.11898	1.843000	0.29202	-0.796000	0.03208	0.834000	0.30193	1.000000	0.68203	0.976000	0.56436	0.5848:0.0:0.4152:0.0	11.346	0.48798	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2222	2186.94	114	chr1	113590590	.	G	C	2186.94	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-0.133;DP=1393;ExcessHet=0.7564;FS=347.698;InbreedingCoeff=-0.3104;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=5.52;ReadPosRankSum=0.845;SOR=10.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,36:107:99:0|1:113590590_G_C:330,0,1278:113590590	5	0	4	10
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L,CSDE1:NM_001242892:exon9:c.G1006C:p.V336L,CSDE1:NM_007158:exon9:c.G913C:p.V305L,CSDE1:NM_001007553:exon10:c.G1006C:p.V336L,CSDE1:NM_001130523:exon10:c.G1051C:p.V351L,CSDE1:NM_001242891:exon11:c.G1144C:p.V382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	6987.05	189	chr1	114732648	.	C	G	6987.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.206;DP=2914;ExcessHet=25.4433;FS=278.375;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=1.01;SOR=12.498	GT:AD:DP:GQ:PL	0/1:74,54:135:99:633,0,1121	3	0	16	0
chr1	114774300	114774300	T	C	exonic	SIKE1	.	nonsynonymous SNV	SIKE1:NM_001102396:exon5:c.A607G:p.M203V,SIKE1:NM_025073:exon5:c.A595G:p.M199V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	.	.	0.00419329	0.0011	0	0	0.0147	0	0	0.0022	0.0004	0.0010996	170	154602	rs118113115	0.0005	0.0005	0.0005	0.0005	0.0169	0.0005	0.0005	0.0158	0.0154	0	0	0	0.0169	0	0.0005	1.89e-05	0.0007	0.0004	0.0005	0.0005	0.0004	0.0006	0.0124	0.0004	0.0003	0.0099	0.0091	0	0	0	0	0.0124	0	0	1.47e-05	0.0005	0.0006	0.688	0.04328	T	0.552	0.09457	T	0.0	0.02946	B	0.0	0.01387	B	0.768739	0.09564	N	0.919133	1	0.08975	N	0	0.06538	N	.	.	.	0.44	0.03243	N	0.037	0.01135	-0.9875	0.33224	T	0.018	0.07612	T	9	0.0025716722	0.00039	T	.	.	.	0.073	0.21317	.	.	0.298056030225	0.29408	0.1474542053200095	0.14667	0.362950767261	0.37933	0.24692979455	0.03451	T	0.014778	0.12515	T	-0.688879	0.00042	T	-0.750627	0.03461	T	0.00394708112734141	0.00042	T	0.50065	0.15660	T	0.026892133	0.01805	0.04556906	0.06162	0.026892133	0.01805	0.04556906	0.06161	-2.235	0.04305	T	.	.	0.048	0.00107	B	.;.	.;.	0.257673	0.06365	2.828	0.40436869669715114	0.02854	0.03436	0.08572	N	AEFBI	0.025234	0.01695	N	-1.07371129428178	0.07131	0.3303443	-1.05299388229308	0.08644	0.4260638	0.877737486408175	0.25552	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	-3.78	0.04049	-0.313000	0.08143	-1.744000	0.04806	0.665000	0.62972	0.532000	0.27205	0.000000	0.08366	0.997000	0.79791	0.1004:0.531:0.1019:0.2667	6.534	0.21541	845	0.36510	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	742.33	38	chr1	114774300	.	T	C	742.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.349;DP=703;ExcessHet=0;FS=1.942;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-0.263;SOR=0.428	GT:AD:DP:GQ:PL	0/1:43,32:75:99:756,0,1159	18	0	1	0
chr1	119383022	119383022	T	A	exonic	HAO2	.	nonsynonymous SNV	HAO2:NM_016527:exon3:c.T239A:p.F80Y,HAO2:NM_001005783:exon4:c.T278A:p.F93Y,HAO2:NM_001377472:exon4:c.T278A:p.F93Y	.	433	1055	32	2	0	36	0.0167754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0221846542679	0.0015	0.00119808	0.0023	0.0009	0.0026	0	0	0.0028	0.0036	0.0025	0.0020763	321	154602	rs41306185	0.0019	0.0019	0.0018	0.0020	0.0170	0.0018	0.0018	0.0143	0.0133	0.0006	0.0022	0.0010	0	0.0004	0.0170	0.0019	0.0025	0.0026	0.0016	0.0016	0.0018	0.0014	0.0024	0.0014	0.0014	0.0021	0.0019	0.0007	0	0.0018	0.0009	0	9.418e-05	0.0170	0.0024	0.0052	0.0021	0.013	0.53900	D	0.109	0.37449	T	0.186	0.29254	B	0.274	0.40037	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.28	0.32218	L	1.56	0.29602	T	-1.68	0.40082	N	0.66	0.71055	-1.0737	0.08619	T	0.046	0.19800	T	9	0.020435303	0.00471	T	0.022185	0.45053	T	0.174	0.44019	.	.	0.184867976434	0.18130	0.7442278364771182	0.74368	0.148931395982	0.16796	0.553254902363	0.46316	T	0.016884	0.39789	T	-0.371119	0.03538	T	-0.31079	0.43573	T	0.0347134229547542	0.02759	T	0.940406	0.77539	D	0.4336018	0.62987	0.30213737	0.56246	0.4336018	0.62988	0.30213737	0.56245	-4.546	0.31486	T	.	.	0.205	0.43032	B	.;.;.;.	.;.;.;.	3.012749	0.40293	21.1	0.98698266928499656	0.44866	0.98959	0.89186	D	AEFBI	0.970689	0.99290	D	0.044259173628731	0.43878	2.672305	0.151712515987709	0.47231	2.956636	0.99940961548204	0.39524	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	7.565000	0.81337	6.039000	0.52998	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.068000	0.16518	0.0:0.0:0.0:1.0	15.668	0.77002	770	0.49152	FMN-dependent dehydrogenase|FMN hydroxy acid dehydrogenase domain;FMN-dependent dehydrogenase|FMN hydroxy acid dehydrogenase domain;.;FMN-dependent dehydrogenase|FMN hydroxy acid dehydrogenase 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	0.018127	0.025253	0.020380	0.008772	0.000000	0.017241	0.024390	0.007576	0.05263	2211.83	33	chr1	119383022	.	T	A	2211.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.897;DP=765;ExcessHet=0.119;FS=0.598;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=1.42;SOR=0.602	GT:AD:DP:GQ:PL	0/1:38,52:90:99:1281,0,975	17	0	2	0
chr1	119967490	119967490	G	T	exonic	NOTCH2	.	nonsynonymous SNV	NOTCH2:NM_001200001:exon8:c.C1396A:p.Q466K,NOTCH2:NM_024408:exon8:c.C1396A:p.Q466K	Alagille syndrome 2, Autosomal dominant;Hajdu-Cheney syndrome, Autosomal dominant	1	1498	23	0	0	23	0.00761842	.	.	.	138707	not_provided|Hajdu-Cheney_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0007057,MedGen:C0917715,OMIM:102500,Orphanet:955|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.490	0.0540084363161	0.0002	0.00159744	0.0012	0	0.0002	0	0	0.0012	0.0011	0.0039	0.0010608	164	154602	rs141935585	0.0008	0.0008	0.0006	0.0009	0.0051	0.0007	0.0007	0.0047	0.0045	5.975e-05	0.0004	0.0119	7.559e-05	0	0.0024	0.0002	0.0016	0.0051	0.0006	0.0006	0.0006	0.0006	0.0046	0.0005	0.0005	0.0031	0.0026	2.405e-05	0	0.0001	0.0118	0	0	0.0068	0.0003	0.0014	0.0046	0.05	0.39575	D	0.165	0.30926	T	0.997	0.70673	D	0.992	0.80445	D	0.051790	0.22951	N	0.218587	1	0.81001	D	1.54	0.38927	L	-1.54	0.81640	D	-2.89	0.60665	D	0.275	0.31140	-0.2133	0.77327	T	0.470	0.79605	T	10	0.015744537	0.00331	T	0.054008	0.65690	D	0.490	0.77720	.	.	0.794429864761	0.79251	0.8310143140814363	0.83060	0.724846526864	0.62416	0.630724787712	0.57248	T	0.762811	0.93588	D	-0.260944	0.12791	T	-0.147338	0.59479	T	0.0276478020861148	0.01636	T	0.808919	0.45897	T	0.40501353	0.61078	0.21972813	0.46722	0.4237735	0.62342	0.24696754	0.50216	-6.274	0.48516	T	0.16123221376884006	0.19725	0.099	0.16713	B	.;.	.;.	2.909045	0.38583	20.8	0.99497629346689553	0.67859	0.97994	0.78718	D	AEFBI	0.693048	0.65251	D	0.182510541799373	0.50359	3.226697	0.29721799957346	0.55377	3.700765	0.999999999179144	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	4.78	0.60666	5.468000	0.66473	8.322000	0.76964	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8497:0.1503	14.919	0.70467	861	0.33516	EGF-like domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like 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	0.001511	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1655.33	35	chr1	119967490	.	G	T	1655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.396;DP=754;ExcessHet=0;FS=1.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=0.831;SOR=0.55	GT:AD:DP:GQ:PL	0/1:50,62:112:99:1669,0,1331	18	0	1	0
chr1	121387677	121387677	T	C	exonic	SRGAP2C	.	nonsynonymous SNV	SRGAP2C:NM_001271872:exon10:c.T1199C:p.I400T,SRGAP2C:NM_001329984:exon10:c.T1202C:p.I401T	.	525	995	1	1	0	3	0.00150527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0004	0	0	0	0	0.0007	0	0.0002	0.0001537	4	26028	rs1419689809	0.0002	0.0002	0.0001	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	0	2.983e-05	5.57e-05	0	0	0	0.0002	0.0003	0.0004	8.576e-05	0.0001	5.963e-05	0.0001	0.0002	4.792e-05	3.653e-05	8.905e-05	6.746e-05	3.017e-05	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	0.52386	.	.	.	.	.	.	.	0.1619198	0.30360	T	.	.	.	.	.	.	.	0.199424873507	0.19547	0.2288266420381814	0.22797	.	.	.	.	.	0.040665	0.25602	T	0.0760583	0.61577	D	-0.128524	0.61096	T	.	.	.	0.962304	0.85835	D	0.06623968	0.14232	0.28516033	0.54517	0.06623968	0.14232	0.28516033	0.54516	-6.782	0.52425	T	.	.	0.188	0.40441	B	.;.	.;.	4.284830	0.65301	24.8	0.91068866522520853	0.20321	0.93240	0.57691	D	AEFI	.	.	.	.	.	.	.	.	.	0.00758363429073373	0.11500	0.262962	0.04601	0	0.304816	0.05638	0	0.292756	0.05521	0	0.330827	0.05736	0	0.680728	0.42406	2.48	2.48	0.29194	7.845000	0.85166	7.924000	0.74674	0.312000	0.19173	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:0.0:1.0	8.506	0.32347	976	0.04745	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	202.4	17	chr1	121387677	.	T	C	202.4	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.373;DP=222;ExcessHet=0;FS=3.09;InbreedingCoeff=-0.0315;MLEAC=1;MLEAF=0.026;MQ=26.3;MQRankSum=0.464;QD=18.4;ReadPosRankSum=-0.285;SOR=2.093	GT:AD:DP:GQ:PL	0/1:3,8:11:59:216,0,59	18	0	1	0
chr1	144435839	144435839	C	G	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385417:exon6:c.G508C:p.D170H,NBPF15:NM_001385448:exon6:c.G508C:p.D170H,NBPF15:NM_001385405:exon7:c.G508C:p.D170H,NBPF15:NM_001385447:exon7:c.G508C:p.D170H,NBPF15:NM_001385410:exon8:c.G508C:p.D170H,NBPF15:NM_001385413:exon8:c.G508C:p.D170H,NBPF15:NM_001385416:exon8:c.G508C:p.D170H,NBPF15:NM_001385432:exon8:c.G508C:p.D170H,NBPF15:NM_001385438:exon8:c.G508C:p.D170H,NBPF15:NM_001385446:exon8:c.G508C:p.D170H,NBPF15:NM_001385407:exon9:c.G508C:p.D170H,NBPF15:NM_001385418:exon9:c.G508C:p.D170H,NBPF15:NM_001385424:exon9:c.G508C:p.D170H,NBPF15:NM_001385427:exon9:c.G508C:p.D170H,NBPF15:NM_001385439:exon9:c.G508C:p.D170H,NBPF15:NM_001385440:exon9:c.G508C:p.D170H,NBPF15:NM_001385443:exon9:c.G508C:p.D170H,NBPF15:NM_001385445:exon9:c.G508C:p.D170H,NBPF15:NM_001385376:exon10:c.G508C:p.D170H,NBPF15:NM_001385377:exon10:c.G508C:p.D170H,NBPF15:NM_001385403:exon10:c.G508C:p.D170H,NBPF15:NM_001385404:exon10:c.G508C:p.D170H,NBPF15:NM_001385409:exon10:c.G508C:p.D170H,NBPF15:NM_001385411:exon10:c.G508C:p.D170H,NBPF15:NM_001385414:exon10:c.G508C:p.D170H,NBPF15:NM_001385441:exon10:c.G508C:p.D170H,NBPF15:NM_173638:exon10:c.G508C:p.D170H,NBPF15:NM_001385373:exon11:c.G508C:p.D170H,NBPF15:NM_001385374:exon11:c.G508C:p.D170H,NBPF15:NM_001385375:exon11:c.G508C:p.D170H,NBPF15:NM_001385408:exon11:c.G508C:p.D170H,NBPF15:NM_001385412:exon11:c.G508C:p.D170H,NBPF15:NM_001385415:exon11:c.G508C:p.D170H,NBPF15:NM_001385420:exon11:c.G508C:p.D170H,NBPF15:NM_001385423:exon11:c.G508C:p.D170H,NBPF15:NM_001385430:exon11:c.G508C:p.D170H,NBPF15:NM_001385431:exon11:c.G508C:p.D170H,NBPF15:NM_001385433:exon11:c.G508C:p.D170H,NBPF15:NM_001385434:exon11:c.G508C:p.D170H,NBPF15:NM_001385436:exon11:c.G508C:p.D170H,NBPF15:NM_001385442:exon11:c.G508C:p.D170H,NBPF15:NM_001385444:exon11:c.G508C:p.D170H,NBPF15:NM_001385378:exon12:c.G508C:p.D170H,NBPF15:NM_001385406:exon12:c.G508C:p.D170H,NBPF15:NM_001385419:exon12:c.G508C:p.D170H,NBPF15:NM_001385421:exon12:c.G508C:p.D170H,NBPF15:NM_001385422:exon12:c.G508C:p.D170H,NBPF15:NM_001385425:exon12:c.G508C:p.D170H,NBPF15:NM_001385428:exon12:c.G508C:p.D170H,NBPF15:NM_001385429:exon12:c.G508C:p.D170H,NBPF15:NM_001385435:exon12:c.G508C:p.D170H,NBPF15:NM_001385437:exon12:c.G508C:p.D170H,NBPF15:NM_001170755:exon13:c.G508C:p.D170H,NBPF15:NM_001385426:exon13:c.G508C:p.D170H	.	465	910	147	0	0	147	0.0747331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.331e-05	8.551e-05	0	2.723e-05	4.948e-05	2.21e-06	8.3e-07	8.2e-06	3.07e-06	4.948e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	0.02839	T	.	.	.	0.126	0.11912	.	.	.	.	.	.	.	0.072508216	0.10832	T	.	.	.	.	.	.	.	.	.	0.02086796461604304	0.02039	.	.	.	.	.	0.035888	0.23893	T	.	.	.	.	.	.	.	.	.	0.874313	0.58483	D	.	.	.	.	.	.	.	.	-7.302	0.56210	T	.	.	0.149	0.32945	B	.;.;.	.;.;.	0.829778	0.12010	8.569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.760000	0.01905	-4.297000	0.02231	-3.345000	0.00094	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) 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	.	.	.	.	.	.	.	.	0.05263	159.83	76	chr1	144435839	.	C	G	159.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.51;DP=1342;ExcessHet=0.119;FS=4.349;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=31.08;MQRankSum=-2.82;QD=0.89;ReadPosRankSum=2.48;SOR=1.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,7:93:35:0|1:144435839_C_G:35,0,3498:144435839	17	0	2	0
chr1	145686706	145686706	C	G	exonic	PDZK1	.	nonsynonymous SNV	PDZK1:NM_001201325:exon3:c.G231C:p.K77N,PDZK1:NM_001201326:exon3:c.G231C:p.K77N,PDZK1:NM_001371359:exon3:c.G231C:p.K77N,PDZK1:NM_002614:exon4:c.G231C:p.K77N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781891849	1.007e-05	1.027e-05	8.594e-06	1.157e-05	0.0001	5.85e-06	4.57e-06	7.437e-05	5.71e-05	0	0	0	0	0	0	0	5.2e-05	0.0001	6.594e-06	6.569e-06	0	1.351e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.092	0.31682	T	0.544	0.11041	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.69	0.27032	T	-0.3	0.17834	N	0.156	0.19190	.	.	.	.	.	.	.	0.12111691	0.22954	T	.	.	.	.	.	.	.	.	.	0.8478006267087616	0.84741	.	.	.	.	.	0.070815	0.34053	T	.	.	.	.	.	.	.	.	.	0.785321	0.42297	T	.	.	.	.	.	.	.	.	-5.252	0.41284	T	.	.	0.179	0.39064	B	.;.;.;.	.;.;.;.	1.899527	0.24129	16.28	.	.	.	.	.	.	0.235025	0.35769	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.070000	0.11483	0.370000	0.17667	0.310000	0.19122	0.921000	0.31989	0.993000	0.31925	0.922000	0.45779	.	.	.	272	0.89337	.;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ 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	.	.	.	.	.	.	.	.	0.02632	860.33	34	chr1	145686706	.	C	G	860.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.248;DP=679;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.74;MQRankSum=1.58;QD=15.64;ReadPosRankSum=2.18;SOR=0.737	GT:AD:DP:GQ:PL	0/1:29,26:55:99:874,0,951	18	0	1	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P,ANKRD35:NM_144698:exon10:c.G2056C:p.A686P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	1581.67	33	chr1	145872713	.	C	G	1581.67	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-3.79;DP=2324;ExcessHet=8.9063;FS=153.011;InbreedingCoeff=-0.4246;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.037;SOR=11.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,25:144:64:0|1:145872713_C_G:64,0,3974:145872713	8	0	11	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D,ANKRD35:NM_144698:exon10:c.G2055C:p.E685D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1091.56	162	chr1	145872714	.	C	G	1091.56	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.472;DP=2468;ExcessHet=6.9875;FS=132.372;InbreedingCoeff=-0.388;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=0.29;SOR=11.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,25:144:64:0|1:145872713_C_G:64,0,3974:145872713	9	0	10	0
chr1	146971253	146971253	A	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon16:c.A1450G:p.N484D	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.000692895165646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.122e-05	2.121e-05	1.362e-05	2.889e-05	0.0003	1.521e-05	1.325e-05	0.0002	0.0002	0	0	0	0	0	0	8.995e-07	1.657e-05	0.0003	1.324e-05	1.315e-05	0	2.713e-05	0.0002	2.2e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	0.478	0.13752	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.109	0.10769	-0.9301	0.44124	T	0.007	0.02558	T	6	0.08695832	0.14832	T	6.93E-4	0.00418	T	.	.	.	.	0.0806252709748	0.07271	0.00844343436048817	0.00808	.	.	.	.	.	.	.	.	-0.205991	0.19948	T	-0.533668	0.18923	T	0.266589339303068	0.23601	T	0.926707	0.76748	D	0.06427372	0.13619	0.086128145	0.19933	0.06427372	0.13618	0.086128145	0.19932	-8.757	0.66119	D	.	.	0.173	0.42592	B	.;.;.;.	.;.;.;.	0.133291	0.05285	1.781	0.97949915567997736	0.37093	0.00303	0.01611	N	AEFI	0.042600	0.06630	N	-0.780431103424576	0.13820	0.6836666	-1.01920739281811	0.09363	0.4653933	1.10814145982141E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	0.971	-0.307	0.12143	0.110000	0.15273	-8.449000	0.00968	0.203000	0.17936	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.7097:0.0:0.2903:0.0	3.037	0.05757	732	0.54084	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	3529.33	40	chr1	146971253	.	A	G	3529.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.273;DP=886;ExcessHet=0;FS=5.107;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.05;MQRankSum=1.08;QD=16.97;ReadPosRankSum=-0.514;SOR=0.421	GT:AD:DP:GQ:PL	0/1:80,128:208:99:3543,0,1997	18	0	1	0
chr1	148533944	148533944	T	A	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon65:c.A8133T:p.K2711N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00026086403327	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1459310033	5.123e-05	4.844e-05	3.382e-05	6.573e-05	0.0003	3.632e-05	3.152e-05	0.0002	0.0001	0	0	4.897e-05	0.0001	0	0	5.95e-06	0.0002	0.0003	6.788e-06	6.59e-06	0	1.397e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.09207	.	.	.	.	.	.	.	0.12111768	0.22954	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.761924	0.38711	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	0.72548	P	.;.	.;.	0.923085	0.12983	9.487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.12910	-0.948000	0.06824	.	.	0.551000	0.27354	0.000000	0.08366	.	.	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) 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	.	.	.	.	.	.	.	.	0.02632	172.33	35	chr1	148533944	.	T	A	172.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.3;DP=644;ExcessHet=0;FS=1.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.61;MQRankSum=0.148;QD=4.66;ReadPosRankSum=0.159;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,9:37:99:0|1:148533944_T_A:186,0,886:148533944	18	0	1	0
chr1	148536236	148536236	C	G	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon62:c.G7870C:p.V2624L	.	768	752	2	0	0	2	0.00132802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000202918164534	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326015124	7.289e-06	5.884e-05	0	1.39e-05	8.832e-05	1.94e-06	5.4e-07	1.35e-06	5e-07	8.832e-05	0	0	0	0	0	8.091e-06	0	0	5.839e-05	0.0007	6.364e-05	5.26e-05	8.593e-05	2.723e-05	1.857e-05	1.422e-05	6.94e-06	6.14e-05	0	8.593e-05	0.0004	0	0	0	5.359e-05	0	0	.	.	.	0.145	0.33000	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.06454	.	.	.	.	.	.	.	0.07608476	0.11842	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.665133	0.27420	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.56038	A	.;.	.;.	-0.083278	0.03741	0.775	.	.	.	.	.	.	0.020561	0.00824	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.445000	0.06918	-11.249000	0.00621	0.078000	0.17572	0.982000	0.35529	0.000000	0.08366	0.462000	0.28163	.	.	.	929	0.16858	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	47.31	3	chr1	148536236	.	C	G	47.31	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.282;DP=245;ExcessHet=0;FS=0;InbreedingCoeff=-0.0675;MLEAC=1;MLEAF=0.029;MQ=25.87;MQRankSum=0.282;QD=4.73;ReadPosRankSum=-0.493;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:0|1:148536236_C_G:60,0,330:148536236	16	0	1	2
chr1	148536239	148536239	C	T	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon62:c.G7867A:p.A2623T	.	766	754	2	0	0	2	0.0013245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.000115807786078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.089e-06	6.839e-05	0	1.352e-05	8.483e-05	1.89e-06	5.2e-07	1.32e-06	5e-07	8.483e-05	0	0	0	0	0	7.945e-06	0	0	4.78e-05	0.0007	4.566e-05	5.014e-05	8.065e-05	2.016e-05	1.326e-05	1.388e-05	6.85e-06	5.788e-05	0	8.065e-05	0	0	0	0	5.228e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.20395	.	.	.	.	.	.	.	0.1079652	0.20077	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524848	0.17228	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.686	0.72392	P	.;.	.;.	2.158191	0.27497	17.48	.	.	.	.	.	.	0.021844	0.01021	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.524000	0.06309	-5.185000	0.01815	0.078000	0.17572	0.977000	0.34929	0.000000	0.08366	0.451000	0.27917	.	.	.	929	0.16858	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	43.91	3	chr1	148536239	.	C	T	43.91	.	AC=1;AF=0.028;AN=36;BaseQRankSum=2.36;DP=242;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.028;MQ=27.46;MQRankSum=-0.183;QD=3.99;ReadPosRankSum=-0.23;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:57:0|1:148536236_C_G:57,0,363:148536236	17	0	1	1
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C,NBPF9:NM_001277444:exon7:c.G958T:p.G320C	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	20288.3	149	chr1	149075685	.	C	A	20288.3	.	AC=11;AF=0.289;AN=38;BaseQRankSum=2.68;DP=7243;ExcessHet=8.9063;FS=9.436;InbreedingCoeff=-0.4084;MLEAC=11;MLEAF=0.289;MQ=47.06;MQRankSum=-6.736;QD=3.71;ReadPosRankSum=-1.169;SOR=1.49	GT:AD:DP:GQ:PL	0/1:369,56:425:99:692,0,10047	8	0	11	0
chr1	150799246	150799246	C	T	exonic	CTSK	.	nonsynonymous SNV	CTSK:NM_000396:exon7:c.G812A:p.S271N	Pycnodysostosis, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	277128	not_provided|Pyknodysostosis	MedGen:C3661900|MONDO:MONDO:0009940,MedGen:C0238402,OMIM:265800,Orphanet:763	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.236	0.0178207357613	7.7e-05	0.000599042	0.0002	0	0.0002	0	0	0.0002	0	6.057e-05	0.0001617	25	154602	rs183135762	0.0001	0.0001	0.0001	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0	0.0001	3.827e-05	0	1.872e-05	0.0003	0.0002	0.0001	4.639e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0	0	0.0001	0	0	0	0	0.0004	0.0005	0	0.049	0.39820	D	0.051	0.47828	T	0.002	0.09854	B	0.005	0.11217	B	0.026012	0.25991	N	0.476958	0.999999	0.08975	N	1.08	0.27187	L	-2.25	0.87272	D	-1.5	0.36586	N	0.141	0.14054	-0.5829	0.65502	T	0.336	0.70264	T	10	0.025010794	0.00709	T	0.017821	0.39666	T	0.236	0.53931	.	.	0.914895983297	0.91403	0.6315600216183207	0.63090	0.298731914825	0.32256	0.356705665588	0.18905	T	0.496744	0.81891	T	-0.301913	0.08481	T	-0.365477	0.37417	T	0.0535604034477482	0.06115	T	0.835916	0.50694	T	0.4300035	0.62752	0.19892488	0.43749	0.4300035	0.62753	0.19892488	0.43748	-6.666	0.51554	T	0.12468629809258125	0.12273	0.124	0.26200	B	.	.	2.495369	0.32200	18.97	0.990916647328139	0.52222	0.22867	0.21889	N	AEFDBI	0.203152	0.32969	N	-0.50903655624595	0.21786	1.158802	-0.417900160854563	0.24471	1.34025	0.999997451147527	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	6.17	5.26	0.73479	0.339000	0.19617	2.666000	0.33914	0.599000	0.40250	0.000000	0.06391	0.027000	0.21108	0.870000	0.41412	0.0:0.8614:0.1386:0.0	15.508	0.75494	65	0.97253	Peptidase C1A, papain C-terminal|Peptidase C1A, papain C-terminal|Papain-like cysteine endopeptidase	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1819.33	42	chr1	150799246	.	C	T	1819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.36;DP=845;ExcessHet=0;FS=0.689;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=0.098;SOR=0.781	GT:AD:DP:GQ:PL	0/1:55,69:124:99:1833,0,1403	18	0	1	0
chr1	152303400	152303400	C	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G11486A:p.R3829H	Ichthyosis vulgaris, Autosomal dominant	0	1506	16	0	0	16	0.00528402	.	.	.	1195847	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.062	0.00120702879052	0.0009	0.00139776	0.0021	0.0002	0.0010	0.0010	0.0005	0.0012	0.0044	0.0087	0.0018434	285	154602	rs145079750	0.0013	0.0013	0.0011	0.0016	0.0088	0.0013	0.0012	0.0083	0.0081	0.0003	0.0011	0.0032	0.0002	0.0008	0.0055	0.0007	0.0019	0.0088	0.0011	0.0011	0.0010	0.0012	0.0064	0.0009	0.0009	0.0047	0.0041	0.0002	0	0.0014	0.0049	0.0008	0.0009	0.0136	0.0010	0.0009	0.0064	0.234	0.18061	T	.	.	.	0.998	0.73220	D	0.773	0.56974	P	.	.	.	.	1	0.08975	N	0.065	0.08236	N	4.32	0.02387	T	-0.54	0.16598	N	0.079	0.05414	-0.9634	0.38527	T	0.003	0.00961	T	9	0.005346328	0.00117	T	0.001207	0.01583	T	0.062	0.17934	.	.	0.107399877778	0.10242	0.04271700526932108	0.04216	.	.	0.217877522111	0.01191	T	0.011538	0.10280	T	-0.689889	0.00042	T	-0.75679	0.03229	T	0.018564080998527	0.00571	T	0.408659	0.10529	T	0.021193797	0.00709	0.03216483	0.01911	0.021193797	0.00709	0.03216483	0.01911	-2.943	0.09580	T	.	.	0.079	0.07130	B	.	.	0.664784	0.10331	7.062	0.9318573963517861	0.22848	0.00101	0.00653	N	AEFBI	0.017859	0.00498	N	-1.08648066475287	0.06891	0.3185598	-1.32037773699982	0.04167	0.1959913	5.15909918330053E-5	0.04171	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.67	-3.19	0.04853	-1.700000	0.02005	.	.	-0.273000	0.06669	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4566:0.0:0.5434	7.312	0.25655	557	0.71576	.	.	.	.	.	.	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	1	0	0.005285	0.000000	0.002717	0.016393	0.000000	0.000000	0.009146	0.000000	0.02632	8864.33	34	chr1	152303400	.	C	T	8864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.76;DP=1754;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.98;ReadPosRankSum=0.514;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:258,235:493:99:0|1:152303400_C_T:8878,0,9681:152303400	18	0	1	0
chr1	152303407	152303407	C	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G11479T:p.G3827W	Ichthyosis vulgaris, Autosomal dominant	0	1509	13	0	0	13	0.00428901	.	.	.	1686955	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.055	0.00119832699711	0.0009	0.000599042	0.0010	9.61e-05	0.0010	0	0.0003	0.0011	0.0033	0.0017	0.000925	143	154602	rs140464988	0.0008	0.0008	0.0008	0.0009	0.0052	0.0008	0.0008	0.0037	0.0032	0.0002	0.0010	0.0032	0	0.0007	0.0052	0.0007	0.0016	0.0017	0.0008	0.0008	0.0008	0.0008	0.0014	0.0007	0.0006	0.0009	0.0008	7.223e-05	0	0.0014	0.0049	0.0002	0.0009	0.0136	0.0009	0.0009	0.0012	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.08975	N	2.725	0.79712	M	4.25	0.02564	T	-1.14	0.29323	N	0.247	0.27910	-0.9659	0.38033	T	0.011	0.04134	T	9	0.010894686	0.00241	T	0.001198	0.01558	T	0.055	0.15663	.	.	0.271763555656	0.26798	0.018599530964074594	0.01813	.	.	0.262300044298	0.05168	T	0.026344	0.19516	T	-0.532751	0.00370	T	-0.5453	0.17779	T	0.0656095285570982	0.08021	T	0.49935	0.15589	T	0.21910727	0.44435	0.19436175	0.43054	0.21910727	0.44434	0.19436175	0.43053	-6.991	0.53968	T	.	.	0.312	0.53921	B	.	.	1.764917	0.22449	15.62	0.89310769499541931	0.18688	0.01613	0.05219	N	AEFBI	0.053925	0.09760	N	-0.329808391549347	0.28021	1.542124	-0.617315905071821	0.19049	1.020297	1.16145259936458E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.67	0.217	0.14540	-1.139000	0.03324	.	.	0.544000	0.25403	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.3783:0.6217:0.0	8.461	0.32089	557	0.71576	.	.	.	.	.	.	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	1	0	0.004757	0.000000	0.002717	0.016393	0.000000	0.000000	0.009146	0.000000	0.02632	8882.33	34	chr1	152303407	.	C	A	8882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.418;DP=1881;ExcessHet=0;FS=0.516;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.66;ReadPosRankSum=0.399;SOR=0.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:265,238:503:99:0|1:152303400_C_T:8896,0,9935:152303400	18	0	1	0
chr1	152303602	152303602	G	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.C11284A:p.P3762T	Ichthyosis vulgaris, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00101953236038	0.0002	.	0.0002	0	0	0	0	8.99e-05	0	0.0009	0.0001358	21	154602	rs150476263	0.0001	0.0001	8.168e-05	0.0001	0.0010	8.982e-05	8.466e-05	0.0008	0.0008	0	2.236e-05	0	0	0	0.0003	4.586e-05	0.0001	0.0010	0.0001	0.0001	9.02e-05	0.0001	0.0010	6.532e-05	5.339e-05	0.0004	0.0003	0	0	0.0005	0	0	0	0	4.417e-05	0.0005	0.0010	0.773	0.03354	T	.	.	.	0.296	0.32457	B	0.041	0.23986	B	.	.	.	.	1	0.08975	N	2.075	0.57047	M	4.75	0.01589	T	-0.38	0.13418	N	0.08	0.05542	-0.9153	0.46181	T	0.002	0.00676	T	9	0.015885204	0.00334	T	0.00102	0.01120	T	0.023	0.04649	.	.	0.0846915920261	0.08053	0.049316993872412965	0.04874	.	.	0.261242181063	0.05039	T	0.019716	0.15658	T	-0.575562	0.00205	T	-0.700368	0.05806	T	0.0303582494013571	0.02046	T	0.381062	0.09207	T	0.025110465	0.01413	0.041988265	0.04898	0.025110465	0.01413	0.041988265	0.04897	-8.055	0.61445	D	.	.	0.079	0.07177	B	.	.	-2.001214	0.00101	0.002	0.65959752636705071	0.07921	0.00583	0.02625	N	AEFBI	0.026025	0.01882	N	-1.3114362179893	0.03543	0.1584629	-1.43886490532304	0.02872	0.1329381	1.19175121292243E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.25	-0.474	0.11504	-1.677000	0.02046	.	.	-4.624000	0.00024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4909:0.2676:0.2415:0.0	3.861	0.08503	557	0.71576	.	.	.	.	.	.	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	0.000532	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	5916.33	34	chr1	152303602	.	G	T	5916.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.346;DP=1818;ExcessHet=0;FS=1.109;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=-1.028;QD=13.51;ReadPosRankSum=-0.609;SOR=0.587	GT:AD:DP:GQ:PL	0/1:226,212:438:99:5930,0,6423	18	0	1	0
chr1	152306286	152306286	A	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T8600G:p.I2867S	Ichthyosis vulgaris, Autosomal dominant	1	1398	122	1	0	124	0.0424658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	0.0139776	1.664e-05	0	0.0002	0	0	0	0	0	0.0026894	70	26028	rs562496957	0.0004	0.0017	0.0004	0.0004	0.0182	0.0004	0.0004	0.0169	0.0164	0.0182	0.0001	0	5.157e-05	0	0	4.499e-06	0.0002	4.649e-05	0.0001	0.0087	0.0001	0.0001	0.0007	8.399e-05	6.959e-05	0.0002	0.0001	0.0003	0	0.0003	0	0.0007	9.781e-05	0	1.508e-05	0	0	1.0	0.00964	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.695	0.00033	N	4.44	0.02139	T	1.22	0.01051	N	0.108	0.09349	-0.9320	0.43844	T	0.000	0.00114	T	9	0.005701959	0.00127	T	.	.	.	0.028	0.06331	.	.	0.0666544352282	0.05500	0.03254880392644141	0.03202	.	.	0.232478544116	0.02157	T	0.011277	0.10082	T	-0.338118	0.05519	T	-0.72346	0.04630	T	0.0612642933428966	0.07366	T	0.29767	0.05533	T	0.03513105	0.04077	0.070264496	0.14906	0.03513105	0.04077	0.070264496	0.14905	0.608	0.00192	T	.	.	0.072	0.04316	B	.	.	-0.356046	0.02382	0.263	0.50286818611689099	0.04358	0.00033	0.00296	N	AEFI	0.012106	0.00124	N	-1.93142500550348	0.00296	0.01268816	-1.86376335753537	0.00576	0.0255669	2.65845221984093E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.09	-2.54	0.05941	-0.796000	0.04680	.	.	-0.434000	0.05191	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3682:0.2705:0.3613:0.0	5.099	0.14083	561	0.71236	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	4465.79	1333	chr1	152306286	.	A	C	4465.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.757;DP=13859;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=53.24;MQRankSum=-9.886;QD=1.08;ReadPosRankSum=5.9;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1157,97:1254:99:0|1:152306286_A_C:436,0,47893:152306286	16	0	3	0
chr1	152306292	152306292	-	CC	exonic	FLG	.	frameshift insertion	FLG:NM_002016:exon3:c.8593_8594insGG:p.A2865Gfs*28	Ichthyosis vulgaris, Autosomal dominant	0	1397	124	1	0	126	0.0431507	.	.	.	1019162	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1205280854	0.0003	0.0016	0.0004	0.0003	0.0150	0.0003	0.0003	0.0139	0.0134	0.0150	8.971e-05	0	5.141e-05	0	0	0	0.0001	3.488e-05	9.776e-05	0.0079	0.0001	8.565e-05	0.0006	5.861e-05	4.725e-05	0.0002	8.916e-05	0.0002	0	0.0002	0	0.0006	9.509e-05	0	1.482e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	4024.75	1333	chr1	152306292	.	G	GCC	4024.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.203;DP=13924;ExcessHet=0.3672;FS=0.953;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=53.62;MQRankSum=-10.23;QD=0.95;ReadPosRankSum=6.22;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1199,94:1293:99:0|1:152306286_A_C:244,0,49902:152306286	16	0	3	0
chr1	152306295	152306296	TG	-	exonic	FLG	.	frameshift deletion	FLG:NM_002016:exon3:c.8590_8591del:p.H2864Cfs*5	Ichthyosis vulgaris, Autosomal dominant	1	1401	119	1	0	121	0.0413958	.	.	.	1019163	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1407703398	0.0003	0.0015	0.0003	0.0002	0.0132	0.0003	0.0003	0.0121	0.0117	0.0132	8.971e-05	0	2.574e-05	0	0	0	8.32e-05	3.487e-05	7.227e-05	0.0080	7.064e-05	7.397e-05	0.0005	3.847e-05	2.957e-05	8.069e-05	3.381e-05	0.0001	0	0.0001	0	0.0005	9.714e-05	0	1.499e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3840.75	1333	chr1	152306294	.	ATG	A	3840.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.481;DP=13958;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=53.84;MQRankSum=-10.23;QD=0.9;ReadPosRankSum=5.99;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1211,92:1303:99:0|1:152306286_A_C:157,0,50483:152306286	16	0	3	0
chr1	152306299	152306299	T	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A8587T:p.T2863S	Ichthyosis vulgaris, Autosomal dominant	1	1406	114	1	0	116	0.0396175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00815051428836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271569013	0.0003	0.0015	0.0003	0.0002	0.0126	0.0003	0.0002	0.0116	0.0112	0.0126	8.971e-05	0	2.571e-05	0	0	4.498e-06	9.984e-05	1.162e-05	0.0002	0.0082	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0001	0	0.0005	9.694e-05	0	4.498e-05	0.0005	0	0.75	0.03587	T	.	.	.	0.477	0.36687	P	0.241	0.38645	B	.	.	.	.	1	0.08975	N	1.105	0.28596	L	4.7	0.01673	T	0.28	0.04233	N	0.048	0.01999	-0.9323	0.43799	T	0.002	0.00526	T	9	0.06755382	0.09427	T	0.008151	0.21598	T	0.011	0.01250	0.317	0.29419	0.162503812791	0.15892	0.035396750250694796	0.03486	.	.	0.270178943872	0.06164	T	0.009579	0.08713	T	-0.5121	0.00488	T	-0.68323	0.06789	T	0.0273883762299825	0.01600	T	0.216078	0.02692	T	0.025629967	0.01522	0.028810205	0.01152	0.025629967	0.01522	0.028810205	0.01152	-3.074	0.11000	T	.	.	0.090	0.12655	B	.	.	-0.112232	0.03568	0.691	0.56914044250386053	0.05655	0.01371	0.04680	N	AEFI	0.036336	0.04825	N	-0.963681291731912	0.09387	0.4441023	-1.1154303731441	0.07405	0.3600705	1.18193506777854E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.59	0.398	0.15542	-0.081000	0.11285	.	.	-1.396000	0.01145	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2327:0.0:0.7673	3.431	0.06999	561	0.71236	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	3485.79	1333	chr1	152306299	.	T	A	3485.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.225;DP=13952;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0856;MLEAC=3;MLEAF=0.079;MQ=54.17;MQRankSum=-10.57;QD=0.82;ReadPosRankSum=5.09;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1205,87:1292:26:0|1:152306286_A_C:26,0,50336:152306286	16	0	3	0
chr1	153032507	153032507	C	0	exonic	SPRR1B	.	.	.	.	506	390	437	182	7	808	0.506641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	26379.6	227	chr1	153032507	.	C	*	26379.6	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.7;DP=2119;ExcessHet=1.9883;FS=0;InbreedingCoeff=-0.0556;MLEAC=4;MLEAF=0.105;MQ=59.58;MQRankSum=0;QD=14.45;ReadPosRankSum=0.487;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,45:98:99:1|0:153032465_CTGCCACCCCAAGGTGCCTGAGCCCTGCCACCCCAAAGTGCCCGAGCCCTGCCAGCCCAAGGTTCCAGAGCCA_C:3507,1808,2132:153032465	16	1	2	0
chr1	153778771	153778771	A	G	exonic	SLC27A3	.	nonsynonymous SNV	SLC27A3:NM_001317929:exon7:c.A1532G:p.K511R,SLC27A3:NM_024330:exon7:c.A1532G:p.K511R	.	435	1076	11	0	0	11	0.00508553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366	0.0088198989567	0.0002	0.000798722	0.0010	0	0.0002	0	0.0005	0.0002	0.0011	0.0059	0.0008085	125	154602	rs147963978	0.0005	0.0005	0.0003	0.0007	0.0057	0.0005	0.0004	0.0053	0.0052	0	2.236e-05	0.0005	5.038e-05	0.0003	0.0023	0.0001	0.0007	0.0057	0.0002	0.0002	0.0001	0.0003	0.0044	0.0002	0.0001	0.0029	0.0024	0	0	0	0.0003	0	0.0005	0.0034	7.354e-05	0.0005	0.0044	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.997138	0.43655	D	.	.	.	1.02	0.40749	T	-2.77	0.61284	D	0.693	0.75374	-0.3021	0.74926	T	0.340	0.70632	T	10	0.010057867	0.00225	T	0.00882	0.23269	T	0.366	0.68582	.	.	0.350746614512	0.34690	0.47252226934639613	0.47171	0.527504655777	0.50356	0.523719668388	0.42149	T	0.176454	0.52641	T	-0.256336	0.13331	T	-0.138928	0.60210	T	0.146682464233393	0.16836	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.43680	B	.;.;.;.	.;.;.;.	4.502316	0.70423	25.5	0.99873770382109428	0.95076	0.96622	0.70067	D	AEFDBI	0.908123	0.86301	D	0.48109934059185	0.65986	4.892162	0.504348028882507	0.68281	5.198654	0.999999999996905	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	5.14	5.14	0.70008	6.291000	0.72708	7.996000	0.76131	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	1.0:0.0:0.0:0.0	12.973	0.57923	74	0.96871	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;.	.	.	.	.	.	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	0.002014	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.007576	0.02632	1030.33	33	chr1	153778771	.	A	G	1030.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.823;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-1.138;SOR=0.617	GT:AD:DP:GQ:PL	0/1:44,40:84:99:1044,0,1308	18	0	1	0
chr1	153995109	153995109	C	T	exonic	NUP210L	.	nonsynonymous SNV	NUP210L:NM_001159484:exon36:c.G5002A:p.A1668T,NUP210L:NM_207308:exon38:c.G5458A:p.A1820T	.	439	1072	11	0	0	11	0.00510441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0175287414963	0.0002	0.000599042	0.0008	0	0.0002	0	0.0002	0.0002	0.0011	0.0053	0.0006921	107	154602	rs372943328	0.0004	0.0004	0.0002	0.0006	0.0053	0.0004	0.0004	0.0049	0.0047	2.987e-05	2.236e-05	0.0005	5.039e-05	1.872e-05	0.0019	8.185e-05	0.0007	0.0053	0.0002	0.0002	5.152e-05	0.0003	0.0040	0.0001	0.0001	0.0026	0.0022	0	0	0	0.0003	0	0.0002	0	5.884e-05	0	0.0040	0.158	0.23905	T	0.006	0.70582	D	0.7	0.41856	P	0.251	0.39041	B	0.011206	0.29618	N	0.288744	0.820022	0.34762	D	2.295	0.65404	M	3.33	0.56281	T	-1.85	0.43334	N	0.405	0.44570	-0.8783	0.49896	T	0.068	0.27845	T	10	0.007681966	0.00175	T	0.017529	0.39265	T	0.095	0.27398	.	.	0.574600906166	0.57128	0.6347256657076427	0.63406	0.484920314043	0.47395	0.294328480959	0.09557	T	0.089949	0.38481	T	-0.390086	0.02687	T	-0.331604	0.41290	T	0.0557931095650136	0.06489	T	0.679032	0.28770	T	0.06872378	0.14997	0.11674445	0.28182	0.06872378	0.14997	0.11674445	0.28182	-4.55	0.35543	T	.	.	0.100	0.28948	B	.;.;.	.;.;.	3.231382	0.44070	21.9	0.99646662279564502	0.77005	0.77381	0.38040	D	AEFBHCI	0.326634	0.42784	N	0.130298233858409	0.47880	3.007647	0.246887347096809	0.52473	3.421854	0.999999995923981	0.74766	0.498214	0.20090	0	0.573116	0.20632	0	0.514364	0.09456	0	0.711	0.71501	0	.	.	5.6	5.6	0.84997	3.413000	0.52440	2.678000	0.33996	0.579000	0.29447	1.000000	0.71638	0.848000	0.27364	0.986000	0.61781	0.0:1.0:0.0:0.0	16.535	0.84218	82	0.96572	.;.;.	.	.	.	.	.	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	0.002014	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.007576	0.02632	963.33	34	chr1	153995109	.	C	T	963.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.452;DP=837;ExcessHet=0;FS=0.704;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.23;ReadPosRankSum=-1.253;SOR=0.755	GT:AD:DP:GQ:PL	0/1:71,46:117:99:977,0,1824	18	0	1	0
chr1	156932438	156932438	G	C	exonic	LRRC71	.	nonsynonymous SNV	LRRC71:NM_144702:exon14:c.G1456C:p.E486Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0190851314373	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1015105466	1.369e-06	1.368e-06	0	2.751e-06	1.16e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.994e-07	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.019	0.59159	D	0.997	0.70673	D	0.805	0.58399	P	0.002969	0.35639	N	0.125811	0.974653	0.39123	D	.	.	.	0.57	0.54347	T	-1.49	0.36385	N	0.472	0.50778	-0.6368	0.63282	T	0.234	0.60124	T	10	0.5658116	0.65043	D	0.019085	0.41356	T	0.250	0.55888	0.575	0.69957	0.60023526351	0.59704	0.3450875952091452	0.34422	0.626998182673	0.56810	0.498961925507	0.38683	T	0.016305	0.13502	T	-0.0498782	0.44467	T	-0.309423	0.43720	T	0.983951568603516	0.75433	D	0.786121	0.42437	T	0.16743594	0.37140	0.16003506	0.37294	0.16743594	0.37140	0.16003506	0.37293	-6.495	0.50248	T	.	.	0.172	0.37690	B	.	.	4.547996	0.71547	25.7	0.99698630493138274	0.80453	0.82309	0.41556	D	AEFDGBHCI	0.670696	0.63770	D	0.615632861307492	0.74163	6.086163	0.58035681359194	0.73531	5.985936	0.999999999562867	0.74766	0.475973	0.10046	0	0.59043	0.45803	0	0.514364	0.09456	0	0.528226	0.09195	0	.	.	5.01	5.01	0.66477	5.719000	0.68110	9.772000	0.81558	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.827000	0.38976	0.0:0.0:1.0:0.0	15.353	0.74116	439	0.80177	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	587.33	35	chr1	156932438	.	G	C	587.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=858;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=0.764;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,18:67:99:0|1:156932430_G_A:601,0,1982:156932430	18	0	1	0
chr1	158639683	158639683	C	T	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon35:c.G4879A:p.E1627K	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	4	1516	2	0	0	2	0.000659196	.	.	.	2452611	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.358	0.0707245556268	.	.	4.147e-05	0	0.0002	0	0	1.5e-05	0.0022	0	3.23e-05	5	154602	rs748582690	8.895e-06	8.893e-06	4.084e-06	1.375e-05	9.275e-05	4.96e-06	3.82e-06	4.579e-05	3.272e-05	0	0	0	0	0	0	3.598e-06	1.656e-05	9.275e-05	2.627e-05	2.625e-05	0	5.373e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.989e-05	0	0	6.543e-05	0	0	0	0	0	0	0.0006	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.984	0.76113	D	0.005884	0.32428	N	0.000000	0.999999	0.58761	D	2.605	0.76211	M	0.85	0.47130	T	-3.66	0.70067	D	0.627	0.64137	-0.6223	0.63893	T	0.280	0.65189	T	10	0.8167789	0.80910	D	0.070725	0.71078	D	0.358	0.67872	0.666	0.80401	0.780994167065	0.77897	0.5782838691087411	0.57757	0.212995233942	0.23805	0.651547312737	0.60205	T	0.499956	0.82075	T	0.195086	0.73434	D	0.0424509	0.73088	D	0.863918244838715	0.51413	D	0.974303	0.90829	D	0.66330963	0.76076	0.7308969	0.84099	0.6898355	0.77504	0.6710989	0.80701	-10.19	0.75041	D	0.7268593527600363	0.80833	0.143	0.31381	B	.;.	.;.	4.228397	0.64011	24.7	0.99864209083629196	0.94276	0.99512	0.96919	D	AEFBI	0.907387	0.86136	D	0.826792416109784	0.87750	9.327492	0.781624640633009	0.88487	9.600864	0.999999985274632	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.35	5.35	0.76297	5.605000	0.67317	7.619000	0.62229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0:1.0:0.0:0.0	18.166	0.89656	648	0.63242	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2009.33	42	chr1	158639683	.	C	T	2009.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=793;ExcessHet=0;FS=1.415;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=-0.561;SOR=0.563	GT:AD:DP:GQ:PL	0/1:56,71:127:99:2023,0,1418	18	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N,ARHGAP30:NM_001287600:exon11:c.G1713C:p.K571N,ARHGAP30:NM_001025598:exon12:c.G2157C:p.K719N	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	3525.44	257	chr1	161048864	.	C	G	3525.44	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-5.652;DP=3787;ExcessHet=11.1788;FS=204.532;InbreedingCoeff=-0.4729;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=2.07;SOR=13.483	GT:AD:DP:GQ:PL	0/1:138,47:192:99:111,0,2964	7	0	12	0
chr1	161525664	161525664	G	T	exonic	HSPA6	.	nonsynonymous SNV	HSPA6:NM_002155:exon1:c.G1006T:p.V336F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00188071660749	0.0002	0.000399361	0.0002	0.0004	0.0010	0	0	0.0002	0.0023	0	0.000194	30	154602	rs417707	0.0001	0.0001	0.0001	0.0001	0.0008	0.0001	0.0001	0.0006	0.0005	8.962e-05	0.0008	3.826e-05	2.519e-05	1.873e-05	0.0002	0.0001	0.0002	5.799e-05	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	0.0004	0	0.0007	0	0	0	0	0.0003	0.0005	0	0.0	0.91255	D	0.001	0.83351	D	0.798	0.44840	P	0.477	0.46994	P	0.064806	0.21926	U	0.220760	1	0.08975	N	4.08	0.97210	H	2.36	0.16089	T	-3.34	0.66325	D	0.486	0.52029	-1.0067	0.27943	T	0.059	0.24760	T	10	0.030601382	0.01188	T	0.001881	0.03299	T	0.116	0.32463	.	.	0.298403945805	0.29456	0.44376738541459615	0.44294	.	.	0.454389870167	0.32544	T	0.092176	0.38950	T	-0.377254	0.03242	T	-0.414377	0.31721	T	0.150707036509307	0.17160	T	0.30037	0.05618	T	0.6783182	0.76879	0.7197446	0.83454	0.6783182	0.76880	0.7197446	0.83455	-10.947	0.79367	D	.	.	0.833	0.78903	P	.	.	1.091388	0.14752	11.30	0.9902332680942435	0.50634	0.03290	0.08340	N	AEFBI	0.087080	0.17656	N	-0.326811390215654	0.28134	1.549242	-0.651519772175005	0.18178	0.9699505	0.998162078887007	0.36515	0.59774	0.34471	0	0.550933	0.16991	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	3.23	-1.77	0.07551	-0.093000	0.11077	-20.000000	0.00162	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.690000	0.33838	0.3694:0.1726:0.2834:0.1746	0.585	0.00671	884	0.28482	Heat shock protein 70, conserved site	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1093.33	34	chr1	161525664	.	G	T	1093.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.75;DP=1222;ExcessHet=0;FS=4.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.56;MQRankSum=-3.391;QD=4.82;ReadPosRankSum=1.98;SOR=1.048	GT:AD:DP:GQ:PL	0/1:173,54:227:99:1107,0,4470	18	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	18693.2	75	chr1	175160810	.	C	*	18693.2	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.04;DP=1448;ExcessHet=1.8686;FS=0.62;InbreedingCoeff=-0.0857;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=1.21;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,44:79:99:1|0:175160809_TC_T:2972,1145,1305:175160809	9	2	8	0
chr1	182057461	182057461	C	T	exonic	ZNF648	.	nonsynonymous SNV	ZNF648:NM_001009992:exon2:c.G550A:p.A184T	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00146914968031	0.0018	0.000798722	0.0016	0.0004	0.0002	0	0.0012	0.0024	0.0033	0.0012	0.0016688	258	154602	rs146081397	0.0019	0.0019	0.0019	0.0019	0.0022	0.0018	0.0018	0.0021	0.0021	0.0003	0.0003	0.0016	0	0.0012	0.0007	0.0022	0.0016	0.0011	0.0013	0.0013	0.0016	0.0009	0.0023	0.0011	0.0011	0.0020	0.0019	0.0004	0	0.0003	0.0014	0	0.0013	0	0.0023	0	0.0004	0.519	0.07283	T	0.078	0.42261	T	0.329	0.33227	B	0.019	0.18783	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.24	0.06845	T	0.23	0.04613	N	0.018	0.00252	-0.9374	0.43025	T	0.009	0.03096	T	9	0.004703164	0.00099	T	0.001469	0.02241	T	0.006	0.00375	.	.	0.0138822411134	0.00435	0.061509922870363914	0.06090	0.382517335896	0.39582	0.215970575809	0.01090	T	6.2E-4	0.00264	T	-0.769851	0.00013	T	-0.882605	0.00633	T	0.0105970424244637	0.00148	T	0.40486	0.10377	T	0.022798976	0.00969	0.048493847	0.07215	0.022798976	0.00969	0.048493847	0.07215	-3.803	0.20849	T	.	.	0.068	0.02797	B	.	.	0.348533	0.07216	3.812	0.89377008956422965	0.18744	0.01590	0.05170	N	AEFDBI	0.037842	0.05266	N	-1.29641972734289	0.03718	0.1666067	-1.37954056328799	0.03471	0.1619657	0.812558640389024	0.24381	0.487112	0.14033	0	0.563428	0.19063	0	0.616487	0.41570	0	0.564101	0.26826	0	.	.	2.71	-1.6	0.07977	-0.941000	0.04035	-0.387000	0.09501	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4777:0.1886:0.3337:0.0	4.353	0.10600	910	0.22284	.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	3501.33	36	chr1	182057461	.	C	T	3501.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.518;DP=962;ExcessHet=0;FS=11.286;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-1.13;SOR=0.95	GT:AD:DP:GQ:PL	0/1:113,135:248:99:3515,0,2676	18	0	1	0
chr1	183563229	183563229	T	A	exonic	NCF2	.	nonsynonymous SNV	NCF2:NM_001190789:exon11:c.A1013T:p.N338I,NCF2:NM_001190794:exon12:c.A1121T:p.N374I,NCF2:NM_000433:exon13:c.A1256T:p.N419I,NCF2:NM_001127651:exon14:c.A1256T:p.N419I	Chronic granulomatous disease due to deficiency of NCF-2, Autosomal recessive	1	1484	35	2	0	39	0.0129697	.	.	.	265448	Developmental_and_epileptic_encephalopathy,_28|Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_2|not_specified|not_provided	MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211,Orphanet:442835|MONDO:MONDO:0009310,MedGen:C1856245,OMIM:233710,Orphanet:379|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.280	.	0.0065	0.00419329	0.0054	0.0012	0.0041	0.0001	0.0015	0.0059	0.0055	0.0110	0.0055562	859	154602	rs35012521	0.0082	0.0082	0.0082	0.0082	0.0106	0.0081	0.0080	0.0101	0.0098	0.0010	0.0045	0.0057	2.519e-05	0.0016	0.0094	0.0090	0.0095	0.0106	0.0054	0.0054	0.0057	0.0050	0.0097	0.0051	0.0049	0.0079	0.0077	0.0017	0	0.0045	0.0061	0	0.0010	0.0136	0.0085	0.0076	0.0097	0.003	0.68238	D	0.003	0.76473	D	0.987	0.61912	D	0.942	0.67772	D	0.000092	0.51296	D	0.203036	0.521606	0.31901	D	2.725	0.79712	M	0.78	0.49358	T	-4.32	0.78636	D	0.463	0.50418	-0.7436	0.58267	T	0.198	0.55329	T	10	0.0100801885	0.00226	T	.	.	.	0.280	0.59740	.	.	0.696356426285	0.69374	0.4952431128784428	0.49445	0.798378576579	0.66127	0.477975904942	0.35778	T	0.244942	0.61416	T	-0.410573	0.01970	T	-0.351505	0.39032	T	0.0335921999053578	0.02569	T	0.89911	0.65732	D	0.8869816	0.90250	0.73654705	0.84429	0.92818314	0.94056	0.76936954	0.86382	-8.453	0.69701	D	0.5583680511695567	0.62632	0.516	0.65319	A	.;.;.;.	.;.;.;.	4.079810	0.60676	24.2	0.99299000505735635	0.58541	0.86709	0.46048	D	AEFDBCI	0.325078	0.42677	N	0.489766814090699	0.66488	4.956959	0.450411146364601	0.64743	4.736657	0.999910455796851	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.600882	0.32295	2	0.613276	0.41899	0	.	.	5.58	4.46	0.53567	2.628000	0.46143	3.388000	0.38048	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0765:0.0:0.9235	9.980	0.40982	730	0.54327	.;.;PB1 domain|PB1 domain|PB1 domain|Neutrophil cytosol factor 2, PB1 domain;PB1 domain|PB1 domain|PB1 domain|Neutrophil cytosol factor 2, PB1 domain	NCF2	Artery_Tibial	.	.	.	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	0.002518	0.005051	0.001359	0.000000	0.000000	0.000000	0.009146	0.003788	0.05263	16467.8	733	chr1	183563229	.	T	A	16467.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.574;DP=1903;ExcessHet=0.119;FS=0.519;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.951;SOR=0.641	GT:AD:DP:GQ:PL	0/1:248,273:521:99:6971,0,6298	17	0	2	0
chr1	196673893	196673893	G	A	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon3:c.G281A:p.G94D,CFH:NM_001014975:exon3:c.G281A:p.G94D	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.797	0.186909573964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.987081	0.40533	D	.	.	.	-1.65	0.82625	D	-4.31	0.77308	D	0.912	0.95725	0.936	0.96193	D	0.828	0.94214	D	9	0.9921434	0.99749	D	0.18691	0.85905	D	0.797	0.93346	0.959	0.99568	0.985260113832	0.98510	0.9760732407510359	0.97597	0.715526014082	0.61961	0.549154639244	0.45738	T	0.349096	0.71700	T	0.419611	0.91000	D	0.364965	0.90888	D	0.997110605239868	0.90803	D	0.855114	0.54441	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	0.94308	P	.;.;.	.;.;.	4.769637	0.77191	26.7	0.99787654259911507	0.87396	0.89229	0.49569	D	AEFBI	0.906526	0.85940	D	0.868372570351099	0.90127	10.26504	0.722196949119309	0.84066	8.189154	0.658161663347331	0.22241	0.706298	0.61202	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.47	5.47	0.80345	6.160000	0.71673	11.765000	0.95720	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.537000	0.29868	0.0:0.0:1.0:0.0	14.826	0.69746	545	0.72614	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP 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	.	.	.	.	.	.	.	.	0.02632	1434.33	39	chr1	196673893	.	G	A	1434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.725;DP=776;ExcessHet=0;FS=1.53;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=1.27;SOR=0.782	GT:AD:DP:GQ:PL	0/1:54,56:110:99:1448,0,1358	18	0	1	0
chr1	196994081	196994081	A	T	exonic	CFHR5	.	nonsynonymous SNV	CFHR5:NM_030787:exon4:c.A432T:p.K144N	Nephropathy due to CFHR5 deficiency, Autosomal dominant	60	1446	16	0	0	16	0.00550206	0.0016	0.016	.	863132	not_provided|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|not_specified	MedGen:C3661900|MedGen:CN071292|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.028	0.00988982554081	0.0007	0.00119808	0.0012	0.0002	0.0036	0	0.0002	0.0014	0.0023	0.0004	0.0011255	174	154602	rs181511327	0.0007	0.0007	0.0007	0.0008	0.0071	0.0007	0.0007	0.0054	0.0048	0.0002	0.0021	0.0035	0	0.0003	0.0071	0.0006	0.0016	0.0005	0.0008	0.0008	0.0009	0.0008	0.0012	0.0007	0.0007	0.0009	0.0008	0.0003	0	0.0012	0.0049	0.0002	9.418e-05	0	0.0011	0.0014	0.0008	0.232	0.18184	T	0.506	0.10967	T	0.058	0.22967	B	0.033	0.22329	B	.	.	.	.	0.999878	0.19925	N	1.21	0.30464	L	1.55	0.29866	T	-0.36	0.13035	N	0.266	0.30118	-0.9709	0.37009	T	0.186	0.53511	T	9	0.0099051	0.00222	T	0.00989	0.25766	T	0.028	0.06331	0.433	0.48336	0.369309618794	0.36543	0.27030200952718725	0.26943	0.0159579950925	0.01529	0.30111297965	0.10566	T	0.001023	0.00556	T	-0.662324	0.00061	T	-0.730944	0.04285	T	0.00420356281884647	0.00045	T	0.334567	0.07109	T	0.044134695	0.07000	0.05324926	0.08933	0.03527353	0.04119	0.05571365	0.09825	-2.926	0.09406	T	.	.	0.146	0.32251	B	.	.	0.870787	0.12438	8.970	0.93613116152483089	0.23476	0.06618	0.12634	N	AEFI	0.104535	0.20912	N	-0.98912680347246	0.08836	0.4158167	-0.975181526954504	0.10345	0.5204097	4.16000442167565E-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	2.81	0.31971	0.252000	0.18046	2.064000	0.30409	0.573000	0.29008	0.235000	0.24695	0.852000	0.27401	0.010000	0.09038	0.7624:0.0:0.0:0.2376	6.388	0.20777	256	0.89942	.	.	.	.	.	.	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	0	0	0.007049	0.020202	0.008152	0.002924	0.000000	0.017241	0.000000	0.003788	0.02632	614.33	21	chr1	196994081	.	A	T	614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.944;DP=522;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-0.935;SOR=0.752	GT:AD:DP:GQ:PL	0/1:24,22:46:99:628,0,610	18	0	1	0
chr1	203720696	203720696	G	A	exonic	ATP2B4	.	nonsynonymous SNV	ATP2B4:NM_001001396:exon16:c.G2554A:p.V852M,ATP2B4:NM_001365783:exon16:c.G2554A:p.V852M,ATP2B4:NM_001365784:exon16:c.G2554A:p.V852M,ATP2B4:NM_001684:exon16:c.G2554A:p.V852M	.	221	1300	1	0	0	1	0.000384468	.	.	.	3301350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.822	0.584928810071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.011	0.64786	D	0.999	0.77913	D	0.977	0.73820	D	0.000262	0.46590	D	0.000000	1	0.81001	D	2.6	0.76081	M	-4.73	0.98066	D	-2.63	0.56466	D	0.627	0.64137	1.104	0.99803	D	0.951	0.98392	D	10	0.8205174	0.81260	D	0.584929	0.96293	D	0.822	0.94315	0.719	0.85408	0.725609170557	0.72318	0.6764298251632219	0.67581	1.25624763527	0.81905	0.878540456295	0.93763	D	.	.	.	0.347722	0.86353	D	0.261702	0.86174	D	0.985305368900299	0.76338	D	0.987751	0.95824	D	.	.	.	.	.	.	.	.	-9.509	0.70964	D	.	.	0.265	0.49979	B	.;.;.	.;.;.	5.377530	0.90137	31	0.9990403854995038	0.97502	0.98075	0.79386	D	AEFGBI	0.694318	0.65336	D	0.666786969647426	0.77460	6.678711	0.586848178640817	0.73996	6.062646	0.999995635966392	0.74766	0.645754	0.44609	0	0.633656	0.55848	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	4.52	4.52	0.54797	5.894000	0.69546	11.856000	0.98202	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.0:0.0:1.0:0.0	17.201	0.86786	684	0.59539	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1766.33	34	chr1	203720696	.	G	A	1766.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.793;DP=772;ExcessHet=0;FS=6.765;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=0.17;SOR=0.332	GT:AD:DP:GQ:PL	0/1:63,67:130:99:1780,0,1729	18	0	1	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y,PIK3C2B:NM_002646:exon20:c.G2789A:p.C930Y,PIK3C2B:NM_001377335:exon21:c.G2705A:p.C902Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) 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	.	.	.	.	.	.	.	.	0.3947	3415.12	35	chr1	204444146	.	C	T	3415.12	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-4.545;DP=2707;ExcessHet=20.8569;FS=226.245;InbreedingCoeff=-0.6776;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=0.629;SOR=12.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,27:151:99:0|1:204444146_C_T:179,0,4151:204444146	4	0	15	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R,PIK3C2B:NM_002646:exon20:c.T2788C:p.C930R,PIK3C2B:NM_001377335:exon21:c.T2704C:p.C902R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) 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	.	.	.	.	.	.	.	.	0.2632	1875.17	35	chr1	204444147	.	A	G	1875.17	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.464;DP=2529;ExcessHet=6.9875;FS=190.86;InbreedingCoeff=-0.3572;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=1.32;ReadPosRankSum=1.46;SOR=11.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,27:151:99:0|1:204444146_C_T:179,0,4151:204444146	9	0	10	0
chr1	207134587	207134587	G	A	exonic	C4BPA	.	nonsynonymous SNV	C4BPA:NM_000715:exon9:c.G1268A:p.G423E	.	422	1081	17	2	0	21	0.00961979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00198887350663	0.0036	0.00119808	0.0035	0.0013	0.0028	0	0.0008	0.0049	0.0022	0.0025	0.0033311	515	154602	rs116700161	0.0039	0.0039	0.0038	0.0040	0.0133	0.0038	0.0038	0.0109	0.0100	0.0023	0.0030	0.0056	0	0.0006	0.0133	0.0043	0.0038	0.0023	0.0032	0.0032	0.0031	0.0033	0.0057	0.0029	0.0028	0.0047	0.0044	0.0010	0	0.0057	0.0072	0	0.0003	0.0068	0.0044	0.0047	0.0037	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.315838	0.04043	N	1.534540	1	0.08975	N	-0.42	0.02904	N	0.97	0.42502	T	1.91	0.00451	N	0.067	0.03956	-0.9912	0.32295	T	0.030	0.12935	T	10	0.004659772	0.00098	T	0.001989	0.03588	T	0.029	0.06676	.	.	0.0884992946249	0.08302	0.4354204860056958	0.43459	0.326256688425	0.34772	0.229504972696	0.01932	T	0.015339	0.12888	T	-0.705957	0.00034	T	-0.786157	0.02272	T	0.00216391015312993	0.00022	T	0.185681	0.01928	T	0.030554766	0.02739	0.0517051	0.08375	0.030554766	0.02739	0.0517051	0.08375	-2.025	0.03277	T	.	.	0.093	0.14247	B	.	.	-0.831776	0.01046	0.045	0.3417219507015683	0.02076	0.00142	0.00866	N	AEFI	0.313189	0.41841	N	-1.84554012682975	0.00443	0.01905541	-1.85636219953803	0.00595	0.02643259	0.999995766050152	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.98	-5.98	0.02034	-0.102000	0.10926	-3.112000	0.03051	-0.194000	0.09177	0.001000	0.13787	0.000000	0.08366	0.053000	0.15439	0.3054:0.0:0.5401:0.1545	6.619	0.21987	609	0.67094	.	.	.	.	.	.	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	0.009567	0.005051	0.006793	0.011696	0.000000	0.008621	0.024390	0.000000	0.05263	2018.83	33	chr1	207134587	.	G	A	2018.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.67;DP=744;ExcessHet=0.119;FS=0.75;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=1.13;SOR=0.602	GT:AD:DP:GQ:PL	0/1:42,32:74:99:993,0,1292	17	0	2	0
chr1	220074013	220074013	G	A	exonic	BPNT1	.	nonsynonymous SNV	BPNT1:NM_001286149:exon2:c.C14T:p.S5F,BPNT1:NM_001286151:exon2:c.C14T:p.S5F,BPNT1:NM_001286150:exon3:c.C179T:p.S60F,BPNT1:NM_006085:exon3:c.C179T:p.S60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1471	131.11	54	chr1	220074013	.	G	A	131.11	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-3.058;DP=1660;ExcessHet=1.3;FS=292.203;InbreedingCoeff=-0.1978;MLEAC=5;MLEAF=0.147;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=1.63;SOR=11.716	GT:AD:DP:GQ:PL	0/1:78,25:122:20:20,0,1311	12	0	5	2
chr1	225353862	225353862	-	GGGG	exonic	DNAH14	.	frameshift insertion	DNAH14:NM_001367479:exon73:c.11593_11594insGGGG:p.L3865Rfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1172.62	36	chr1	225353862	.	C	CGGGG	1172.62	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-0.853;DP=1106;ExcessHet=2.0135;FS=185.32;InbreedingCoeff=-0.246;MLEAC=4;MLEAF=0.125;MQ=60;MQRankSum=0;QD=2.52;ReadPosRankSum=2.05;SOR=9.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,19:103:99:.:.:219,0,3062:.	12	0	4	3
chr1	229558205	229558205	C	A	exonic	ABCB10	.	nonsynonymous SNV	ABCB10:NM_012089:exon1:c.G448T:p.A150S	.	474	1042	6	0	0	6	0.00287081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	.	.	0.0171725	0.0037	0	0	0.01	.	0.0019	0.0167	0.0039	0.0020116	311	154602	rs4148756	0.0041	0.0044	0.0042	0.0041	0.0971	0.0040	0.0040	0.0940	0.0927	0.0006	0.0482	0.0004	0.0971	0.0208	0.0014	0.0005	0.0049	0.0021	0.0072	0.0072	0.0061	0.0084	0.0456	0.0068	0.0067	0.0408	0.0390	0.0012	0	0.0343	0	0.0456	0.0147	0	0.0011	0.0156	0.0043	0.255	0.16848	T	0.299	0.20422	T	0.018	0.17786	B	0.008	0.13708	B	0.459200	0.12412	N	0.710029	1	0.08975	N	0.985	0.24966	L	-2.26	0.87352	D	-0.19	0.09965	N	0.113	0.10056	-1.0237	0.22508	T	0.053	0.22423	T	10	0.0018955469	0.00026	T	.	.	.	0.087	0.25287	.	.	.	.	0.17563211044986582	0.17482	0.338778568637	0.35842	0.753332853317	0.74939	T	0.015786	0.13173	T	-0.403426	0.02198	T	-0.265417	0.48283	T	0.0247504426443428	0.01240	T	0.337566	0.07230	T	0.04225667	0.06374	0.06964805	0.14701	0.04225667	0.06374	0.06964805	0.14700	-5.485	0.41728	T	.	.	0.093	0.14108	B	.	.	0.854645	0.12271	8.811	0.89775729279939165	0.19091	0.03331	0.08406	N	ALL	0.022701	0.01168	N	-1.03960194683951	0.07793	0.3632279	-1.05076203629099	0.08691	0.4285844	0.999999999999807	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.231153	0.04653	2	0.249971	0.05119	0	.	.	3.98	1.59	0.22622	0.041000	0.13813	-0.878000	0.07076	-0.352000	0.05559	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1306:0.651:0.2184:0.0	9.593	0.38722	745	0.52414	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	178.33	21	chr1	229558205	.	C	A	178.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.882;DP=320;ExcessHet=0;FS=2.363;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=1.81;SOR=0.223	GT:AD:DP:GQ:PL	0/1:6,8:14:99:192,0,129	18	0	1	0
chr1	231019885	231019885	T	C	exonic	FAM89A	.	nonsynonymous SNV	FAM89A:NM_198552:exon2:c.A533G:p.D178G	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0151154171792	.	.	1.657e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs755089815	2.736e-06	2.736e-06	1.361e-06	4.125e-06	4.638e-05	6.4e-07	4.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	0	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.075	0.42794	T	0.952	0.54136	P	0.436	0.45556	B	0.022189	0.26683	N	0.403750	0.524247	0.31922	D	2.25	0.63811	M	.	.	.	-1.99	0.45949	N	0.303	0.34228	-0.8295	0.53333	T	0.117	0.41165	T	9	0.15813905	0.29745	T	0.015115	0.35666	T	0.107	0.30369	0.192	0.10304	0.110078149338	0.10416	0.41348785517322545	0.41264	0.375523553379	0.39009	0.443435907364	0.31047	T	0.033269	0.22843	T	-0.133037	0.31005	T	-0.247347	0.50078	T	0.495277613401413	0.32457	T	0.611839	0.23263	T	0.1644394	0.36651	0.16822906	0.38766	0.1644394	0.36651	0.16822906	0.38765	-3.774	0.20417	T	.	.	0.181	0.39408	B	.	.	3.637086	0.51552	23.1	0.98813470376113666	0.46655	0.76792	0.37691	D	AEFBCI	0.188241	0.31552	N	0.0954060758025378	0.46248	2.868144	0.0861585911628652	0.43849	2.678394	0.998939357242044	0.38009	0.562547	0.31514	0	0.588066	0.40923	0	0.687403	0.62504	0	0.635551	0.53088	0	.	.	5.85	3.35	0.37468	1.455000	0.34800	2.756000	0.34570	0.654000	0.53741	0.791000	0.29607	1.000000	0.68203	0.810000	0.38174	0.1218:0.0667:0.0:0.8116	8.015	0.29537	763	0.50172	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1014.33	34	chr1	231019885	.	T	C	1014.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.295;DP=707;ExcessHet=0;FS=0.971;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-1.452;SOR=0.919	GT:AD:DP:GQ:PL	0/1:37,36:73:99:1028,0,1095	18	0	1	0
chr1	235791905	235791905	C	T	exonic	LYST	.	nonsynonymous SNV	LYST:NM_000081:exon12:c.G4337A:p.R1446Q,LYST:NM_001301365:exon12:c.G4337A:p.R1446Q	Chediak-Higashi syndrome, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	279957	not_specified|Chédiak-Higashi_syndrome|LYST-related_disorder|Inborn_genetic_diseases	MedGen:CN169374|MONDO:MONDO:0008963,MedGen:C0007965,OMIM:214500,Orphanet:167|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.078	0.00795417579078	0.0010	0.00179712	0.0003	0.0035	8.639e-05	0	0	4.495e-05	0	0	0.0003493	54	154602	rs111722949	0.0002	0.0002	0.0002	0.0001	0.0055	0.0001	0.0001	0.0048	0.0046	0.0055	0.0001	0	0	0	0.0019	1.349e-05	0.0004	1.159e-05	0.0013	0.0013	0.0014	0.0012	0.0046	0.0012	0.0011	0.0041	0.0039	0.0046	0	0.0004	0	0	0	0	2.94e-05	0.0014	0	0.693	0.04264	T	0.54	0.09760	T	0.001	0.07471	B	0.001	0.04355	B	0.811968	0.09244	N	0.930000	1	0.81001	D	0.02	0.07987	N	0.18	0.60361	T	-0.33	0.12472	N	0.087	0.06454	-1.0567	0.12595	T	0.060	0.25163	T	10	0.007049799	0.00160	T	0.007954	0.21084	T	0.078	0.22779	.	.	0.35421846163	0.35036	0.2228987763141402	0.22204	.	.	0.197378903627	0.00385	T	0.046931	0.27572	T	-0.589043	0.00170	T	-0.619734	0.11206	T	0.0230501865083003	0.01030	T	0.863614	0.55989	D	0.03526551	0.04117	0.037567772	0.03437	0.03526551	0.04116	0.037567772	0.03437	-3.242	0.13000	T	0.060143045475285636	0.01631	0.071	0.03698	B	.	.	1.397052	0.18105	13.55	0.97547101452488405	0.34544	0.60249	0.31142	D	AEFDBI	0.067415	0.13251	N	-0.604332417052815	0.18812	0.9797584	-0.37168532355833	0.25845	1.42384	0.0089568137480181	0.11771	0.487112	0.14033	0	0.546412	0.12157	0	0.573888	0.23631	0	0.491896	0.07777	0	.	.	5.76	2.5	0.29355	2.885000	0.48269	0.674000	0.20619	0.599000	0.40250	1.000000	0.71638	0.656000	0.25990	0.882000	0.42233	0.0:0.289:0.0:0.711	6.321	0.20421	840	0.37365	.	.	.	.	.	.	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	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1447.33	33	chr1	235791905	.	C	T	1447.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.187;DP=753;ExcessHet=0;FS=1.501;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.834;SOR=0.859	GT:AD:DP:GQ:PL	0/1:54,59:113:99:1461,0,1238	18	0	1	0
chr1	240207647	240207647	-	CCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	exonic	FMN2	.	nonframeshift insertion	FMN2:NM_020066:exon5:c.2835_2836insCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:p.P946_P947insLLPGAGIPLPP,FMN2:NM_001305424:exon6:c.2847_2848insCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:p.P950_P951insLLPGAGIPLPP	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	458.79	71	chr1	240207647	.	G	GCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	458.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.812;DP=1180;ExcessHet=0.3672;FS=2.692;InbreedingCoeff=-0.0109;MLEAC=3;MLEAF=0.079;MQ=59.24;MQRankSum=0;QD=5.21;ReadPosRankSum=-0.566;SOR=0.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,6:7:9:0|1:240207647_G_GCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:130,0,9:240207647	16	0	3	0
chr1	247921313	247921315	TCT	-	exonic	OR2T8	.	nonframeshift deletion	OR2T8:NM_001005522:exon1:c.296_298del:p.F101del	.	690	821	8	3	0	14	0.00845411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0.0038	0	0.0019	0	0	0.0011	0.0192	0.0267	6.5e-06	1	154602	rs374461351	0.0026	0.0019	0.0016	0.0036	0.0239	0.0025	0.0025	0.0229	0.0224	0	0.0006	0.0003	9.208e-05	0	0.0094	0.0009	0.0022	0.0239	0.0009	0.0011	0.0005	0.0013	0.0178	0.0007	0.0007	0.0132	0.0116	9.807e-05	0	0.0004	0.0004	0	0	0	0.0008	0.0019	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005240	0.000000	0.000000	0.020619	0.000000	0.011364	0.004808	0.010753	0.05263	622.79	33	chr1	247921312	.	ATCT	A	622.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.205;DP=419;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=34.97;MQRankSum=1.87;QD=16.83;ReadPosRankSum=0.924;SOR=0.527	GT:AD:DP:GQ:PL	0/1:12,11:23:99:416,0,457	17	0	2	0
chr1	248273512	248273514	GAA	-	exonic	OR2T33	.	nonframeshift deletion	OR2T33:NM_001004695:exon1:c.301_303del:p.F101del	.	433	1058	31	0	0	31	0.0144388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.0004	0.0002	0	0	0.0008	0.0055	0.0201	0.0001153	3	26028	rs747751796	0.0003	0.0014	0.0003	0.0003	0.0031	0.0003	0.0003	0.0028	0.0027	8.969e-05	8.949e-05	0	2.519e-05	0	0.0006	0.0001	0.0005	0.0031	2.628e-05	0.0003	3.855e-05	1.344e-05	0.0002	8.14e-06	5.14e-06	7.97e-06	2.98e-06	4.81e-05	0	0	0	0	0	0	1.471e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007592	0.000000	0.002725	0.012605	0.000000	0.017241	0.019231	0.011538	0.05263	139.63	41	chr1	248273511	.	GGAA	G	139.63	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.21;DP=2142;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0516;MLEAC=1;MLEAF=0.026;MQ=44.51;MQRankSum=-1.968;QD=0.35;ReadPosRankSum=2.92;SOR=0.635	GT:AD:DP:GQ:PL	0/1:193,14:207:8:8,0,7911	17	0	2	0
chr1	248488843	248488843	G	A	exonic	OR2T5	.	nonsynonymous SNV	OR2T5:NM_001004697:exon1:c.G255A:p.M85I	.	.	.	.	.	.	.	.	.	.	.	2345562	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.0018214554634	.	.	6.729e-05	0.0005	0	0	0	6.977e-05	0	0	.	.	.	rs768652455	2.381e-05	4.333e-05	2.733e-05	2.046e-05	0.0007	1.634e-05	1.381e-05	0.0004	0.0003	0.0007	0	0	0	0	0.0002	1.461e-05	2.198e-05	0	0	7.859e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	0.85	0.46913	P	0.41	0.44785	B	0.000855	0.41440	D	0.107649	0.953154	0.26414	N	1.97	0.53315	M	.	.	.	.	.	.	.	.	-1.0585	0.12134	T	0.023	0.09878	T	10	0.1924398	0.34973	T	0.001821	0.03141	T	.	.	0.701	0.83777	.	.	0.12039190546306026	0.11966	.	.	0.372370779514	0.21172	T	0.013392	0.11594	T	-0.251383	0.13930	T	-0.598871	0.12906	T	0.209415107965469	0.20922	T	.	.	.	0.329301	0.55413	0.31395173	0.57389	0.329301	0.55413	0.31395173	0.57388	-8.552	0.64773	D	.	.	0.460	0.62674	A	.	.	1.707097	0.21738	15.33	0.98926070238833286	0.48657	0.03676	0.08943	N	AEFI	0.032438	0.03662	N	-0.0826542948379767	0.38154	2.230262	-0.192791800122755	0.31800	1.803099	2.40530725427341E-6	0.01202	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.62	2.62	0.30337	-1.680000	0.02040	-3.201000	0.02976	0.488000	0.22294	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.2903:0.0:0.7097:0.0	5.098	0.14077	982	0.03397	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	.	.	.	.	.	.	.	.	0.02632	193.33	37	chr1	248488843	.	G	A	193.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.912;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=26.47;MQRankSum=-1.058;QD=5.52;ReadPosRankSum=2.08;SOR=0.165	GT:AD:DP:GQ:PL	0/1:25,10:35:99:207,0,653	18	0	1	0
chr1	248559237	248559237	C	T	exonic	OR2T29;OR2T5	.	nonsynonymous SNV	OR2T29:NM_001004694:exon1:c.G255A:p.M85I,OR2T5:NM_001004697:exon1:c.G255A:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00255446314123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1389706393	7.34e-05	6.425e-05	8.593e-05	6.177e-05	0.0009	5.772e-05	5.178e-05	0.0006	0.0005	0.0009	0.0001	0	0	2.343e-05	0.0007	4.696e-05	5.498e-05	3.029e-05	0.0004	0.0004	0.0003	0.0005	0.0010	0.0003	0.0002	0.0006	0.0005	0.0010	0	0	0	0	0	0	6.191e-05	0	0	0.032	0.44694	D	0.048	0.48594	D	0.754	0.43358	P	0.41	0.44785	B	0.000855	0.41440	D	0.107649	0.83795	0.28671	N	2.12	0.58754	M	3.43	0.05440	T	-3.38	0.66780	D	0.172	0.18376	-1.1022	0.03835	T	0.030	0.13067	T	10	0.36264026	0.52854	T	0.002554	0.05121	T	0.060	0.17295	0.689	0.82653	0.565865824572	0.56251	0.14021950973850375	0.13944	2.08621322631	0.94675	0.387423455715	0.23306	T	0.013146	0.11424	T	-0.222239	0.17690	T	-0.557008	0.16659	T	0.108154631276303	0.13231	T	0.725627	0.33984	T	0.51285285	0.67846	0.37135187	0.62366	0.51285285	0.67847	0.37135187	0.62366	-8.631	0.65293	D	.	.	0.447	0.63066	A	.;.	.;.	2.128074	0.27094	17.34	0.98945708239959373	0.49036	0.21506	0.21426	N	AEFI	0.143633	0.26639	N	-0.19305415900146	0.33423	1.896023	-0.319661875508429	0.27464	1.524123	3.38659669648571E-5	0.03775	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.71	2.71	0.31092	0.042000	0.13834	-2.514000	0.03662	0.421000	0.20799	0.012000	0.18695	0.000000	0.08366	0.540000	0.29938	0.0:1.0:0.0:0.0	12.241	0.53858	976	0.04745	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	.	.	.	.	.	.	.	.	0.02632	160.39	9	chr1	248559237	.	C	T	160.39	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.102;DP=326;ExcessHet=0;FS=0;InbreedingCoeff=-0.0308;MLEAC=1;MLEAF=0.026;MQ=32.64;MQRankSum=-0.769;QD=8.02;ReadPosRankSum=1.19;SOR=0.283	GT:AD:DP:GQ:PL	0/1:13,7:20:99:174,0,392	18	0	1	0
chr2	20670772	20670772	C	A	exonic	GDF7	.	nonsynonymous SNV	GDF7:NM_182828:exon2:c.C700A:p.L234M	.	419	1067	34	2	0	38	0.0174954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	.	0.0026	0.00219649	0.0113	0	0	0	0	0.0237	0.0179	0.0083	0.0018046	279	154602	rs184953707	0.0082	0.0079	0.0082	0.0083	0.0382	0.0081	0.0081	0.0334	0.0316	0.0027	0.0048	0.0069	3.084e-05	0.0030	0.0382	0.0090	0.0084	0.0046	0.0060	0.0060	0.0064	0.0057	0.0094	0.0057	0.0056	0.0088	0.0086	0.0012	0.0296	0.0064	0.0081	0.0002	0.0009	0.0582	0.0094	0.0113	0.0048	0.03	0.45393	D	0.006	0.70582	D	0.997	0.70673	D	0.942	0.67772	D	0.000528	0.00629	U	121.660000	0.69947	0.30117	N	2.55	0.74443	M	-0.62	0.71895	T	-1.84	0.43149	N	0.273	0.30914	-0.7361	0.58653	T	0.381	0.73796	T	10	0.0078290105	0.00178	T	.	.	.	0.193	0.47281	.	.	0.635529869896	0.63253	0.504431532661327	0.50365	.	.	0.830165207386	0.86588	D	0.440769	0.78555	T	-0.410947	0.01959	T	-0.353678	0.38782	T	0.0229795204709291	0.01021	T	0.455554	0.13039	T	0.14518051	0.33292	0.19504318	0.43159	0.14518051	0.33292	0.19504318	0.43158	-8.269	0.62888	D	.	.	0.457	0.62557	A	.	.	2.102262	0.26750	17.23	0.98257961501667279	0.39639	0.37897	0.25866	N	AEFDBCI	0.080438	0.16263	N	-0.425792003779726	0.24567	1.327473	-0.672964456356806	0.17638	0.938766	0.999995761145897	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.6	0.537	0.16337	0.253000	0.18066	-0.144000	0.11487	-0.257000	0.07002	0.006000	0.17386	0.000000	0.08366	0.292000	0.24309	0.1538:0.6628:0.0:0.1834	5.622	0.16738	883	0.28872	TGF-beta, propeptide	.	.	.	.	.	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	0.049881	0.025974	0.050000	0.112903	0.000000	0.076087	0.048276	0.000000	0.05263	1785.83	44	chr2	20670772	.	C	A	1785.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.59;DP=712;ExcessHet=0.119;FS=7.435;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=1.31;SOR=0.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,29:63:99:0|1:20670771_G_A:1082,0,1295:20670771	17	0	2	0
chr2	21005514	21005514	G	A	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon26:c.C11354T:p.T3785I	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	0	1503	19	0	0	19	0.00628099	.	.	.	285090	APOB-related_disorder|Cardiovascular_phenotype|Hypercholesterolemia,_autosomal_dominant,_type_B|Familial_hypobetalipoproteinemia_1|not_provided|Hypercholesterolemia,_familial,_1	.|MedGen:CN230736|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.024	0.00791888410041	0.0004	0.000199681	0.0006	0	8.658e-05	0.0001	0	0.0005	0.0022	0.0016	0.0004722	73	154602	rs143710616	0.0004	0.0004	0.0003	0.0005	0.0024	0.0003	0.0003	0.0019	0.0018	5.976e-05	0.0001	0	2.519e-05	0	0.0024	0.0003	0.0004	0.0021	0.0002	0.0002	0.0002	0.0003	0.0012	0.0002	0.0002	0.0005	0.0004	7.221e-05	0	0	0	0	0	0.0034	0.0003	0.0014	0.0012	0.194	0.20835	T	0.005	0.72224	D	.	.	.	.	.	.	0.334610	0.04151	N	1.455970	1	0.08975	N	.	.	.	5.79	0.00674	T	-1.84	0.43149	N	0.125	0.11769	-0.9472	0.41448	T	0.003	0.01092	T	10	0.012298077	0.00265	T	0.007919	0.21007	T	0.024	0.04979	.	.	0.31411915649	0.31020	0.4583545464643379	0.45753	0.0386577791827	0.04113	0.207481980324	0.00709	T	.	.	.	-0.654439	0.00068	T	-0.719617	0.04814	T	0.0219539528332851	0.00903	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.16582	B	.	.	0.525888	0.08949	5.727	0.94133578746085422	0.24319	0.17954	0.20058	N	AEFBCI	0.401570	0.47600	N	-0.966642498518556	0.09322	0.4407507	-1.09245490083276	0.07848	0.3834083	0.998814216776067	0.37733	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.57	-3.7	0.04150	0.331000	0.19477	-0.157000	0.11360	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.883000	0.42306	0.4757:0.0:0.4129:0.1114	6.613	0.21958	860	0.33753	.	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.000000	0.050000	0.008621	0.000000	0.003788	0.02632	10500.3	39	chr2	21005514	.	G	A	10500.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.635;DP=1460;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.351;SOR=0.691	GT:AD:DP:GQ:PL	0/1:398,383:781:99:10514,0,11266	18	0	1	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R,ATAD2B:NM_017552:exon11:c.A1220G:p.H407R,ATAD2B:NM_001354107:exon12:c.A1262G:p.H421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	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	.	.	.	.	.	.	.	.	0.4474	1906.46	28	chr2	23864893	.	T	C	1906.46	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.108;DP=1231;ExcessHet=31.086;FS=215.109;InbreedingCoeff=-0.7907;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.27;SOR=11.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,40:102:99:.:.:257,0,610:.	2	0	17	0
chr2	24793176	24793176	T	C	exonic	PTRHD1	.	nonsynonymous SNV	PTRHD1:NM_001013663:exon1:c.A202G:p.T68A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.0195370112495	.	.	1.695e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs773928181	1.437e-05	1.437e-05	8.172e-06	2.064e-05	0.0002	9.24e-06	7.84e-06	0.0002	0.0001	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.006	0.70582	D	0.977	0.58535	D	0.698	0.54098	P	0.000000	0.84330	D	0.050925	1	0.81001	D	3.17	0.88688	M	2.84	0.10674	T	-4.04	0.74427	D	0.62	0.63544	-1.0525	0.13709	T	0.072	0.29227	T	10	0.7657583	0.76690	D	0.019537	0.41929	T	0.242	0.54781	0.602	0.73346	0.437850553699	0.43404	0.6890190019068201	0.68841	0.74872460195	0.63655	0.614321887493	0.54926	T	0.659931	0.89782	D	-0.236055	0.15856	T	-0.317174	0.42883	T	0.965768158435822	0.67369	D	0.79722	0.44094	T	0.5484537	0.69869	0.6022746	0.76889	0.5484537	0.69870	0.6022746	0.76890	-8.184	0.62317	D	.	.	0.297	0.52744	B	.	.	3.935758	0.57556	23.9	0.99679628551774613	0.79174	0.81194	0.40650	D	ALL	0.566079	0.57221	D	0.675715941724478	0.78042	6.792412	0.630845871610962	0.77193	6.632107	1.0	0.98316	0.441713	0.08003	0	0.504199	0.08210	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	6.06	4.92	0.64147	5.343000	0.65746	7.831000	0.70117	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.480000	0.28565	0.0:0.0746:0.0:0.9254	10.784	0.45595	373	0.84140	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1093.33	33	chr2	24793176	.	T	C	1093.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.264;DP=732;ExcessHet=0;FS=1.776;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.688;SOR=0.913	GT:AD:DP:GQ:PL	0/1:42,45:87:99:1107,0,1063	18	0	1	0
chr2	39272307	39272307	T	C	exonic	MAP4K3	.	nonsynonymous SNV	MAP4K3:NM_001270425:exon25:c.A1886G:p.K629R,MAP4K3:NM_003618:exon26:c.A1949G:p.K650R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0259628171334	.	0.000399361	0.0002	0	0	0.0031	0	0	0	0	0.000194	30	154602	rs200566214	8.281e-05	8.277e-05	7.627e-05	8.942e-05	0.0027	7.072e-05	6.621e-05	0.0023	0.0021	8.968e-05	0	0	0.0027	0	0	2.699e-06	4.971e-05	5.797e-05	7.22e-05	7.217e-05	3.853e-05	0.0001	0.0019	3.967e-05	3.124e-05	0.0010	0.0008	0	0	0	0	0.0019	0	0	0	0	0.0002	1.0	0.00964	T	0.789	0.04587	T	0.049	0.22227	B	0.048	0.24975	B	0.000000	0.84330	D	0.000000	0.99979	0.58761	D	0.025	0.08010	N	-0.68	0.72678	T	-0.01	0.07155	N	0.21	0.23380	-0.8757	0.50097	T	0.160	0.49447	T	10	0.0128545165	0.00275	T	0.025963	0.48901	D	0.091	0.26358	.	.	0.496871534903	0.49321	0.34795625316923146	0.34709	0.369682073933	0.38498	0.684638142586	0.64934	T	0.050964	0.28745	T	-0.408958	0.02019	T	-0.365143	0.37457	T	0.0825120621087766	0.10306	T	0.854615	0.54143	D	0.15430418	0.34932	0.21521665	0.46101	0.15430418	0.34931	0.21521665	0.46100	-2.044	0.03351	T	.	.	0.073	0.04806	B	.;.;.	.;.;.	3.477047	0.48538	22.6	0.98891922597102855	0.48019	0.88586	0.48583	D	AEFBI	0.348865	0.44284	N	-0.288213874232632	0.29601	1.643074	-0.0231405420792079	0.38671	2.281758	0.991200881179697	0.32408	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.78	5.78	0.91418	3.634000	0.54043	2.933000	0.35626	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.122	0.81171	401	0.82673	Citron homology (CNH) domain|Citron homology (CNH) domain|Citron homology (CNH) domain;Citron homology (CNH) domain|Citron homology (CNH) domain|Citron homology (CNH) 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	.	.	.	.	.	.	.	.	0.02632	605.33	35	chr2	39272307	.	T	C	605.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.06;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=-0.83;SOR=0.653	GT:AD:DP:GQ:PL	0/1:41,26:67:99:619,0,1077	18	0	1	0
chr2	45599504	45599504	G	A	exonic	SRBD1	.	nonsynonymous SNV	SRBD1:NM_018079:exon4:c.C593T:p.P198L	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0056	0.00259585	0.0053	0.0010	0.0010	0	0.0118	0.0071	0.0055	0.0035	0.0048382	748	154602	rs147790397	0.0062	0.0062	0.0061	0.0062	0.0069	0.0061	0.0060	0.0067	0.0067	0.0008	0.0010	0.0076	2.519e-05	0.0094	0.0010	0.0069	0.0044	0.0039	0.0048	0.0048	0.0048	0.0047	0.0075	0.0045	0.0044	0.0069	0.0067	0.0007	0.0011	0.0011	0.0081	0.0002	0.0108	0.0034	0.0075	0.0019	0.0044	0.007	0.59928	D	0.166	0.30828	T	0.001	0.07471	B	0.002	0.06944	B	0.005114	0.33089	N	0.214512	1	0.08975	N	1.935	0.51832	L	1.85	0.24472	T	-1.92	0.44657	N	0.21	0.23380	-1.0370	0.18233	T	0.029	0.12585	T	10	0.0040596724	0.00079	T	.	.	.	0.055	0.15663	.	.	0.199424873507	0.19547	0.34430823728472876	0.34344	0.0131367131703	0.01263	0.361073434353	0.19541	T	0.003315	0.02718	T	-0.530612	0.00381	T	-0.528425	0.19443	T	0.0107957162507319	0.00153	T	0.812119	0.46368	T	0.053039797	0.09979	0.06995704	0.14804	0.053039797	0.09978	0.06995704	0.14804	-3.343	0.14298	T	.	.	0.069	0.03231	B	.	.	1.581587	0.20241	14.65	0.88742237979295013	0.18219	0.12972	0.17589	N	AEFDBI	0.046578	0.07750	N	-0.703603884921446	0.15920	0.8066236	-0.654035504183129	0.18115	0.9662884	0.981694922232912	0.30298	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	4.08	0.46880	1.357000	0.33694	1.526000	0.27126	0.618000	0.50648	0.494000	0.26909	0.292000	0.24171	0.720000	0.34772	0.1547:0.0:0.8453:0.0	10.341	0.43062	812	0.42537	.	.	.	.	.	rs147790397	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	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.007576	0.02632	2194.33	37	chr2	45599504	.	G	A	2194.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.748;DP=834;ExcessHet=0;FS=7.329;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-0.978;SOR=0.329	GT:AD:DP:GQ:PL	0/1:67,84:151:99:2208,0,1741	18	0	1	0
chr2	54827702	54827702	A	G	exonic	EML6	.	nonsynonymous SNV	EML6:NM_001039753:exon5:c.A662G:p.Y221C	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.410	0.0201103579475	0.0011	0.000199681	0.0018	0	0	0	0.0025	0.0031	0	0.0010	0.0005498	85	154602	rs191679730	0.0020	0.0019	0.0020	0.0020	0.0023	0.0019	0.0019	0.0022	0.0022	0.0004	0.0008	0.0015	0	0.0029	0.0004	0.0023	0.0014	0.0008	0.0017	0.0017	0.0019	0.0016	0.0029	0.0016	0.0015	0.0026	0.0024	0.0005	0	0.0003	0.0012	0	0.0034	0	0.0029	0.0005	0.0008	0.041	0.41915	D	0.022	0.57587	D	1.0	0.90584	D	0.968	0.71741	D	0.663640	0.10405	U	0.613969	0.999988	0.54805	D	2.27	0.64531	M	1.75	0.26152	T	-6.24	0.90530	D	0.843	0.83885	-0.9992	0.30143	T	0.174	0.51737	T	10	0.10374683	0.19089	T	0.02011	0.42635	T	0.410	0.72176	.	.	0.53371040847	0.53021	0.6910964588528513	0.69049	0.535229922184	0.50900	0.811780750751	0.83765	D	0.225954	0.59084	T	-0.116623	0.33678	T	0.057913	0.74106	D	0.0596599477577806	0.07115	T	0.973003	0.90263	D	0.42668325	0.62535	0.447736	0.67843	0.42668325	0.62535	0.447736	0.67843	-10.06	0.74270	D	.	.	0.826	0.78526	P	.	.	5.035991	0.83793	28.1	0.99844460569694649	0.92489	0.98657	0.85222	D	AEFBI	0.918621	0.88794	D	0.808020936917449	0.86604	8.939369	0.803946858103094	0.90065	10.24151	0.99999943016181	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.79	5.79	0.91751	8.947000	0.92735	9.375000	0.80475	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.120	0.81152	378	0.83833	WD40-repeat-containing 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	.	.	.	.	.	.	.	.	0.02632	1393.33	36	chr2	54827702	.	A	G	1393.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.114;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.786;SOR=0.678	GT:AD:DP:GQ:PL	0/1:61,56:117:99:1407,0,1644	18	0	1	0
chr2	62831118	62831118	G	T	exonic	EHBP1	.	nonsynonymous SNV	EHBP1:NM_001354217:exon6:c.G594T:p.E198D,EHBP1:NM_001142614:exon7:c.G594T:p.E198D,EHBP1:NM_001142615:exon7:c.G594T:p.E198D,EHBP1:NM_001142616:exon7:c.G594T:p.E198D,EHBP1:NM_001354212:exon7:c.G594T:p.E198D,EHBP1:NM_001354213:exon7:c.G594T:p.E198D,EHBP1:NM_001354214:exon7:c.G594T:p.E198D,EHBP1:NM_001354215:exon7:c.G594T:p.E198D,EHBP1:NM_001354216:exon7:c.G594T:p.E198D,EHBP1:NM_001354218:exon7:c.G594T:p.E198D,EHBP1:NM_001354219:exon7:c.G594T:p.E198D,EHBP1:NM_001354220:exon7:c.G594T:p.E198D,EHBP1:NM_001354221:exon7:c.G594T:p.E198D,EHBP1:NM_001354222:exon7:c.G594T:p.E198D,EHBP1:NM_015252:exon7:c.G594T:p.E198D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0144802509878	.	.	0.0001	9.623e-05	0	0	0	0.0002	0	0.0001	9.06e-05	14	154602	rs200124260	0.0001	0.0001	0.0001	0.0001	0.0010	9.795e-05	9.27e-05	0.0005	0.0003	0.0001	4.73e-05	0	2.541e-05	3.748e-05	0.0010	0.0001	0.0001	4.765e-05	7.224e-05	7.219e-05	8.996e-05	5.373e-05	0.0001	3.969e-05	3.126e-05	7.911e-05	5.995e-05	2.407e-05	0	0	0	0	0	0	0.0001	0	0	0.156	0.47320	T	0.472	0.32891	T	0.233	0.77913	B	0.065	0.82059	B	0.000006	0.62929	N	0.104542	0.976244	0.39259	D	1.955	0.52871	M	-0.81	0.74477	T	-1.25	0.33401	N	0.275	0.31140	-0.4091	0.71739	T	0.437	0.77644	T	10	0.10822213	0.20136	T	0.01448	0.34624	T	0.190	0.46781	0.106	0.01810	0.526266166122	0.52272	0.17747377974381634	0.17666	0.0926667827727	0.10463	0.698562085629	0.66937	T	0.019417	0.15476	T	-0.178215	0.24000	T	-0.234091	0.51375	T	0.132468119263649	0.15608	T	0.836316	0.50742	T	0.06853518	0.14940	0.057602126	0.10501	0.06853518	0.14940	0.057602126	0.10500	-6.123	0.47297	T	.	.	0.067	0.26200	B	.;.;.;.;.;.	.;.;.;.;.;.	2.577568	0.33415	19.33	0.99775672302554341	0.86346	0.89766	0.50444	D	AEFGBI	0.385150	0.46600	N	-0.00307005324493722	0.41717	2.50027	0.00523373533062773	0.39957	2.377139	0.0292108467839491	0.13874	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.95	1.98	0.25351	1.782000	0.38284	0.306000	0.17032	-0.106000	0.15538	1.000000	0.71638	0.949000	0.28973	0.987000	0.62547	0.317:0.0:0.5547:0.1282	5.452	0.15867	496	0.76301	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1267.33	33	chr2	62831118	.	G	T	1267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.104;DP=721;ExcessHet=0;FS=2.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=1.4;SOR=0.468	GT:AD:DP:GQ:PL	0/1:43,54:97:99:1281,0,996	18	0	1	0
chr2	62948717	62948717	G	A	exonic	EHBP1	.	nonsynonymous SNV	EHBP1:NM_001142614:exon13:c.G1871A:p.S624N,EHBP1:NM_001142615:exon13:c.G1871A:p.S624N,EHBP1:NM_001142616:exon13:c.G1871A:p.S624N,EHBP1:NM_001354217:exon13:c.G1976A:p.S659N,EHBP1:NM_001354218:exon13:c.G1871A:p.S624N,EHBP1:NM_001354219:exon13:c.G1871A:p.S624N,EHBP1:NM_001354220:exon13:c.G1871A:p.S624N,EHBP1:NM_001354212:exon14:c.G1976A:p.S659N,EHBP1:NM_001354213:exon14:c.G1976A:p.S659N,EHBP1:NM_001354214:exon14:c.G1976A:p.S659N,EHBP1:NM_001354215:exon14:c.G1976A:p.S659N,EHBP1:NM_001354216:exon14:c.G1976A:p.S659N,EHBP1:NM_015252:exon14:c.G1976A:p.S659N	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0163734082483	0.0004	.	0.0005	9.696e-05	0.0018	0	0	0.0005	0.0011	0	0.0003881	60	154602	rs140493234	0.0003	0.0003	0.0003	0.0003	0.0029	0.0002	0.0002	0.0019	0.0015	0.0001	0.0011	0.0019	0	0	0.0029	0.0002	0.0005	0.0002	0.0004	0.0004	0.0003	0.0004	0.0009	0.0003	0.0003	0.0006	0.0004	7.216e-05	0	0.0009	0.0009	0	0	0.0034	0.0005	0.0005	0.0002	0.133	0.28646	T	0.515	0.13403	T	0.004	0.17786	B	0.006	0.21085	B	0.000000	0.84330	N	0.042311	0.572864	0.32309	D	1.52	0.38360	L	-0.88	0.74689	T	-0.92	0.27463	N	0.258	0.29197	-0.5515	0.66730	T	0.268	0.63992	T	10	0.014242977	0.00300	T	0.016373	0.37594	T	0.150	0.39571	.	.	0.420780279148	0.41693	0.2455782241165902	0.24471	0.0945963051	0.10686	0.549833476543	0.45834	T	0.010892	0.09789	T	-0.405789	0.02121	T	-0.406105	0.32674	T	0.0125584370921436	0.00209	T	0.789521	0.43637	T	0.18528767	0.39884	0.15227534	0.35833	0.16819286	0.37261	0.14758891	0.34920	-4.224	0.28664	T	.	.	0.127	0.28807	B	.;.;.;.	.;.;.;.	3.107036	0.41893	21.4	0.97510087117562183	0.34347	0.89153	0.49448	D	AEFBI	0.178244	0.30550	N	-0.088129188631157	0.37913	2.21264	0.0819518579984197	0.43640	2.661697	0.516162326566969	0.21058	0.615465	0.37627	0	0.633656	0.55848	0	0.554053	0.18673	1	0.635551	0.53088	0	.	.	6.03	4.22	0.49153	2.675000	0.46541	3.557000	0.39072	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.268:0.0:0.732:0.0	9.318	0.37108	377	0.83897	.;.;.;.	.	.	.	.	.	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	0.002014	0.000000	0.004076	0.000000	0.000000	0.017241	0.000000	0.000000	0.02632	1787.33	33	chr2	62948717	.	G	A	1787.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.201;DP=741;ExcessHet=0;FS=4.202;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=1.64;SOR=0.537	GT:AD:DP:GQ:PL	0/1:65,64:129:99:1801,0,1850	18	0	1	0
chr2	63484955	63484955	G	A	exonic	WDPCP	.	nonsynonymous SNV	WDPCP:NM_001354045:exon5:c.C286T:p.R96C,WDPCP:NM_015910:exon5:c.C286T:p.R96C,WDPCP:NM_001354044:exon6:c.C214T:p.R72C	.	.	.	.	.	.	.	.	.	.	.	1004203	Bardet-Biedl_syndrome|Heart_defect_-_tongue_hamartoma_-_polysyndactyly_syndrome|Bardet-Biedl_syndrome_15|WDPCP-related_disorder	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MONDO:MONDO:0009008,MedGen:C1857587,OMIM:217085,Orphanet:1338|MONDO:MONDO:0014443,MedGen:C3150127,OMIM:615992,Orphanet:110|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.455	0.184226558031	.	.	1.672e-05	0	0	0	0	1.51e-05	0	6.104e-05	2.59e-05	4	154602	rs375338402	1.643e-05	1.71e-05	1.635e-05	1.652e-05	0.0002	1.112e-05	9.34e-06	2.004e-05	1.055e-05	2.993e-05	6.734e-05	7.671e-05	7.56e-05	1.873e-05	0.0002	6.3e-06	4.975e-05	3.479e-05	3.948e-05	3.941e-05	6.433e-05	1.347e-05	0.0002	1.717e-05	1.131e-05	1.921e-05	1.032e-05	7.244e-05	0	0	0	0.0002	0	0	2.944e-05	0	0	0.001	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	2.36	0.67893	M	0.66	0.85173	T	-5.4	0.95842	D	0.929	0.93370	0.568	0.91479	D	0.742	0.91202	D	10	0.72630453	0.73996	D	0.184227	0.85736	D	0.455	0.75415	0.424	0.46857	0.962191848888	0.96178	0.552280107357883	0.55154	0.637075281149	0.57461	0.747625291348	0.74096	T	0.146841	0.48463	T	0.258163	0.79359	D	0.358758	0.90656	D	0.869208812713623	0.51915	D	0.940306	0.80130	D	0.5568595	0.70336	0.54053086	0.73446	0.5568595	0.70337	0.54053086	0.73446	-6.544	0.50625	T	0.7532656329379175	0.83532	0.873	0.82660	P	.;.;.	.;.;.	5.867468	0.93881	33	0.99939892170235445	0.99767	0.95981	0.66997	D	AEFI	0.835272	0.75321	D	0.854880587943842	0.89384	9.949642	0.848018461032179	0.92899	11.70018	0.834254169457884	0.24748	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.96	5.96	0.96695	5.497000	0.66642	11.903000	0.99411	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8697:0.1303	16.648	0.85039	493	0.76500	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	826.33	36	chr2	63484955	.	G	A	826.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.414;DP=718;ExcessHet=0;FS=1.842;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-0.508;SOR=0.923	GT:AD:DP:GQ:PL	0/1:44,35:79:99:840,0,1062	18	0	1	0
chr2	64553270	64553270	G	A	exonic	AFTPH	.	nonsynonymous SNV	AFTPH:NM_001002243:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375969:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375970:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375971:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375972:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375973:exon2:c.G1796A:p.R599Q,AFTPH:NM_017657:exon2:c.G1796A:p.R599Q,AFTPH:NM_203437:exon2:c.G1796A:p.R599Q	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0105635573149	0.0012	0.000199681	0.0010	0.0002	0.0002	0	0.0003	0.0016	0	0.0004	0.0008991	139	154602	rs145180972	0.0012	0.0012	0.0012	0.0012	0.0047	0.0012	0.0011	0.0033	0.0028	0.0002	0.0010	0.0107	2.519e-05	9.361e-05	0.0047	0.0011	0.0017	0.0005	0.0010	0.0010	0.0009	0.0011	0.0030	0.0009	0.0008	0.0023	0.0021	0.0001	0	0.0030	0.0052	0	0.0003	0.0102	0.0011	0.0009	0.0004	0.151	0.24564	T	0.567	0.09588	T	0.999	0.77913	D	0.744	0.55835	P	0.000519	0.43753	D	0.143981	0.918307	0.27353	N	2.43	0.70455	M	1.89	0.23884	T	-0.36	0.13035	N	0.162	0.25867	-0.9407	0.42505	T	0.146	0.46967	T	10	0.0066280365	0.00150	T	0.010564	0.27238	T	0.106	0.30130	.	.	0.395439683604	0.39153	0.09268503856702141	0.09200	0.145550282508	0.16445	0.31736022234	0.13020	T	0.005785	0.05228	T	-0.390562	0.02668	T	-0.36917	0.36985	T	0.0419444429151859	0.04044	T	0.837516	0.51368	T	0.06829398	0.14865	0.066421665	0.13602	0.06829398	0.14865	0.066421665	0.13602	-2.131	0.03764	T	.	.	0.081	0.10256	B	.;.;.	.;.;.	3.608351	0.51007	23.0	0.99494756820086461	0.67687	0.94159	0.60291	D	AEFDBI	0.485845	0.52526	N	0.303078558336739	0.56307	3.795164	0.364641707865849	0.59393	4.116906	0.999957760131871	0.48110	0.706298	0.61202	0	0.643519	0.57511	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.01	5.13	0.69729	3.440000	0.52649	5.710000	0.49419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.7339:0.2661	14.489	0.67220	788	0.46569	.;.;.	.	.	.	.	.	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	0.005539	0.015152	0.004076	0.002924	0.100000	0.000000	0.000000	0.007576	0.05263	2742.83	63	chr2	64553270	.	G	A	2742.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.472;DP=826;ExcessHet=0.119;FS=2.517;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.713;SOR=0.899	GT:AD:DP:GQ:PL	0/1:44,52:96:99:1494,0,1171	17	0	2	0
chr2	70212810	70212810	T	C	exonic	TIA1	.	nonsynonymous SNV	TIA1:NM_001351514:exon11:c.A842G:p.N281S,TIA1:NM_001351509:exon12:c.A1043G:p.N348S,TIA1:NM_001351510:exon12:c.A1034G:p.N345S,TIA1:NM_001351512:exon12:c.A932G:p.N311S,TIA1:NM_001351513:exon12:c.A926G:p.N309S,TIA1:NM_022037:exon12:c.A1037G:p.N346S,TIA1:NM_001351508:exon13:c.A1067G:p.N356S,TIA1:NM_001351511:exon13:c.A959G:p.N320S,TIA1:NM_001351515:exon13:c.A767G:p.N256S,TIA1:NM_001351524:exon13:c.A650G:p.N217S,TIA1:NM_001351525:exon13:c.A650G:p.N217S,TIA1:NM_022173:exon13:c.A1070G:p.N357S,TIA1:NM_001351517:exon15:c.A647G:p.N216S	Welander distal myopathy, Autosomal recessive, Autosomal dominant	433	1063	25	1	0	27	0.0125406	.	.	.	250766	TIA1-related_disorder|not_specified|Welander_distal_myopathy|Amyotrophic_lateral_sclerosis_26_with_or_without_frontotemporal_dementia|not_provided	.|MedGen:CN169374|MONDO:MONDO:0011466,MedGen:C0221054,OMIM:604454,Orphanet:603|MONDO:MONDO:0030885,MedGen:C5436882,OMIM:619133|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.086	.	0.0068	0.00159744	0.0071	0.0011	0.0017	0.0001	0.0062	0.0096	0.0121	0.0082	0.006714	1038	154602	rs116621885	0.0074	0.0074	0.0072	0.0076	0.0097	0.0073	0.0072	0.0091	0.0089	0.0008	0.0018	0.0111	0	0.0062	0.0071	0.0078	0.0075	0.0097	0.0058	0.0058	0.0062	0.0054	0.0098	0.0055	0.0054	0.0092	0.0090	0.0014	0	0.0017	0.0095	0.0004	0.0044	0.0068	0.0098	0.0033	0.0085	0.774	0.28271	T	0.508	0.18018	T	0.224	0.44504	B	0.035	0.38393	B	0.000000	0.84330	D	0.000000	0.999885	0.50402	D	0.69	0.16971	N	1.87	0.24085	T	-0.69	0.20576	N	0.145	0.17966	-1.1318	0.01698	T	0.042	0.18035	T	10	0.008425117	0.00191	T	.	.	.	0.086	0.25016	.	.	0.505014679873	0.50138	0.7826891376531397	0.78219	0.449003188195	0.44711	0.48201584816	0.36334	T	0.19771	0.55447	T	-0.53217	0.00373	T	-0.525526	0.19737	T	0.021698436316006	0.00876	T	0.907309	0.80370	D	0.13183007	0.30715	0.083171055	0.19040	0.100094944	0.23631	0.083171055	0.19040	-3.659	0.20342	T	.	.	0.058	0.00693	B	.;.;.;.	.;.;.;.	2.930871	0.38935	20.8	0.96730909776813989	0.30888	0.81882	0.41199	D	AEFDGBHCI	0.335452	0.43389	N	0.132091676009274	0.47965	3.014956	0.267106633268196	0.53630	3.530868	0.999999989995281	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.88	5.88	0.94564	2.023000	0.40660	7.952000	0.75854	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:0.0:1.0	15.114	0.72058	492	0.76569	.;.;.;RNA recognition motif domain	.	.	.	.	rs116621885	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	0.007553	0.005051	0.006793	0.002924	0.000000	0.008621	0.012195	0.018939	0.02632	1539.33	34	chr2	70212810	.	T	C	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.098;DP=724;ExcessHet=0;FS=1.832;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.3;ReadPosRankSum=-0.952;SOR=0.489	GT:AD:DP:GQ:PL	0/1:31,58:89:99:1553,0,800	18	0	1	0
chr2	73265335	73265335	G	A	exonic	FBXO41	.	nonsynonymous SNV	FBXO41:NM_001371389:exon5:c.C1511T:p.A504V,FBXO41:NM_001080410:exon9:c.C1511T:p.A504V	.	388	1096	36	2	0	40	0.0179211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	0.0003	0.0107827	0.0078	0.0006	0.0518	0.0004	0	0.0008	0.0047	0.0162	0.0070956	1097	154602	rs188487265	0.0030	0.0030	0.0026	0.0033	0.0480	0.0029	0.0029	0.0463	0.0456	0.0004	0.0480	0.0011	0.0014	0.0002	0.0097	0.0003	0.0037	0.0163	0.0058	0.0058	0.0045	0.0071	0.0462	0.0054	0.0053	0.0434	0.0423	0.0006	0	0.0462	0.0009	0.0012	0	0.0068	0.0006	0.0085	0.0157	0.476	0.08335	T	0.442	0.13252	T	0.0	0.02946	B	0.0	0.01387	B	0.847931	0.08984	N	0.917792	1	0.08975	N	0.55	0.14455	N	.	.	.	-0.55	0.16799	N	0.072	0.04547	-1.0155	0.25175	T	0.006	0.02206	T	9	0.0017401278	0.00022	T	.	.	.	0.003	0.00094	.	.	0.138757226776	0.13463	0.18048622107473394	0.17967	0.301249995044	0.32469	0.411466300488	0.26660	T	0.006353	0.05784	T	-0.724524	0.00026	T	-0.778468	0.02500	T	0.00164849263473556	0.00017	T	0.430157	0.11673	T	0.027925882	0.02054	0.0304026	0.01492	0.027925882	0.02053	0.0304026	0.01492	-4.233	0.27226	T	.	.	0.062	0.01328	B	.;.;.	.;.;.	-0.518353	0.01809	0.142	0.72745171607099846	0.10081	0.06569	0.12583	N	AEFDBI	0.053189	0.09562	N	-1.45363776807987	0.02188	0.09635119	-1.46179851677538	0.02665	0.1229868	0.989634082244431	0.31888	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	5.39	-3.03	0.05100	-0.510000	0.06411	-0.252000	0.10498	-1.545000	0.00970	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5201:0.0:0.2657:0.2142	5.979	0.18627	587	0.69154	.;.;.	.	.	.	.	.	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	0.009082	0.000000	0.006793	0.005848	0.000000	0.000000	0.021472	0.015152	0.02632	978.33	33	chr2	73265335	.	G	A	978.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=711;ExcessHet=0;FS=1.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=1.8;SOR=0.525	GT:AD:DP:GQ:PL	0/1:49,42:91:99:992,0,1070	18	0	1	0
chr2	73732634	73732634	G	A	exonic	TPRKB	.	nonsynonymous SNV	TPRKB:NM_001330386:exon3:c.C208T:p.R70W,TPRKB:NM_001330387:exon3:c.C208T:p.R70W,TPRKB:NM_001330390:exon3:c.C37T:p.R13W	.	20	205	1	0	0	1	0.00243309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000331150023714	.	.	.	.	.	.	.	.	.	.	.	.	.	rs919434439	5.821e-05	4.417e-05	0	0.0001	0.0004	9.64e-06	3.61e-06	6.801e-05	2.847e-05	0	0	0	0	0	0	0	0	0.0004	3.293e-05	3.285e-05	3.861e-05	2.697e-05	6.56e-05	1.263e-05	8e-06	8.02e-06	3e-06	4.84e-05	0	6.56e-05	0	0	0	0	2.942e-05	0	0	0.0	0.91255	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.45	0.32482	T	0.13	0.05503	N	0.106	0.09066	-1.0174	0.24560	T	0.051	0.21495	T	5	0.027290463	0.00878	T	3.31E-4	0.00035	T	0.009	0.00846	0.403	0.43408	0.148003135375	0.14442	0.28874499137148296	0.28787	.	.	.	.	.	.	.	.	-0.593562	0.00159	T	-0.630625	0.10368	T	0.0181707042992216	0.00538	T	0.805019	0.45286	T	.	.	.	.	.	.	.	.	-4.745	0.33944	T	.	.	0.129	0.27642	B	.;.	.;.	-0.242676	0.02879	0.410	0.51896775924368732	0.04647	0.00032	0.00291	N	AEFBI	0.036489	0.04869	N	-1.18502759477639	0.05227	0.2377486	-1.43133479389043	0.02943	0.1363706	0.0177920900300238	0.12990	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	0.131	-0.261	0.12322	-0.937000	0.04051	-0.889000	0.07035	-0.825000	0.02924	0.001000	0.13787	0.001000	0.17328	0.003000	0.05239	.	.	.	394	0.83065	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	317.42	14	chr2	73732634	.	G	A	317.42	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.444;DP=282;ExcessHet=0;FS=7.908;InbreedingCoeff=-0.0324;MLEAC=1;MLEAF=0.026;MQ=58.84;MQRankSum=1.19;QD=14.43;ReadPosRankSum=0.363;SOR=0.069	GT:AD:DP:GQ:PL	0/1:10,12:22:99:331,0,239	18	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3158	5735.91	312	chr2	94876587	.	C	A	5735.91	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.916;DP=3920;ExcessHet=11.1788;FS=8.574;InbreedingCoeff=-0.4693;MLEAC=12;MLEAF=0.316;MQ=58.28;MQRankSum=-15.51;QD=1.91;ReadPosRankSum=-3.532;SOR=1.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,15:210:43:0|1:94876587_C_A:43,0,8095:94876587	7	0	12	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	26792.8	425	chr2	94876618	.	C	G	26792.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.341;DP=5489;ExcessHet=20.8569;FS=1.497;InbreedingCoeff=-0.6522;MLEAC=15;MLEAF=0.395;MQ=57.4;MQRankSum=-17.98;QD=5.28;ReadPosRankSum=-2.883;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:238,36:274:99:0|1:94876587_C_A:795,0,9845:94876587	4	0	15	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.4474	37055.9	473	chr2	94876632	.	C	T	37055.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-5.11;DP=6526;ExcessHet=31.086;FS=0;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.07;MQRankSum=-18.76;QD=5.89;ReadPosRankSum=-1.429;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:261,49:310:99:0|1:94876587_C_A:1231,0,10742:94876587	2	0	17	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	43084.9	563	chr2	94876671	.	A	G	43084.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.332;DP=7395;ExcessHet=31.086;FS=1.384;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.94;MQRankSum=-20.34;QD=5.94;ReadPosRankSum=4.74;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:334,56:390:99:.:.:1305,0,13679:.	2	0	17	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.4474	46132.9	570	chr2	94876674	.	G	A	46132.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.405;DP=7437;ExcessHet=31.086;FS=0.657;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.92;MQRankSum=-20.34;QD=6.34;ReadPosRankSum=4.97;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:323,62:385:99:.:.:1591,0,13204:.	2	0	17	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.4211	17880.0	561	chr2	94876731	.	C	T	17880.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.372;DP=6867;ExcessHet=25.4433;FS=3.492;InbreedingCoeff=-0.7272;MLEAC=16;MLEAF=0.421;MQ=57.57;MQRankSum=-19.85;QD=2.71;ReadPosRankSum=-1.021;SOR=1.026	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:337,45:382:99:.:.:149,0,8883:.	3	0	16	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	25429.3	297	chr2	95855390	.	T	C	25429.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.2;DP=4819;ExcessHet=48.2876;FS=21.823;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.65;MQRankSum=-11.56;QD=5.47;ReadPosRankSum=-6.798;SOR=2.121	GT:AD:DP:GQ:PL	0/1:207,54:261:99:1105,0,6100	0	0	19	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	.	.	.	.	.	.	.	.	0.033	.	.	.	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3684	3255.24	342	chr2	95855406	.	C	G	3255.24	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.246;DP=5290;ExcessHet=17.0548;FS=5.715;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=53.82;MQRankSum=-6.005;QD=0.86;ReadPosRankSum=-2.675;SOR=1.39	GT:AD:DP:GQ:PL	0/1:272,29:301:62:62,0,8310	5	0	14	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	60963.4	298	chr2	95855549	.	T	C	60963.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.128;DP=6596;ExcessHet=48.2876;FS=13.468;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.36;MQRankSum=-12.9;QD=9.49;ReadPosRankSum=0.896;SOR=1.314	GT:AD:DP:GQ:PL	0/1:226,138:364:99:2869,0,6535	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	48661.4	222	chr2	95855576	.	A	G	48661.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.413;DP=5637;ExcessHet=48.2876;FS=28.241;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=46.08;MQRankSum=-12.28;QD=8.91;ReadPosRankSum=-3.201;SOR=1.955	GT:AD:DP:GQ:PL	0/1:235,85:320:99:2155,0,6900	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3421	5066.16	228	chr2	95855586	.	T	C	5066.16	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.521;DP=5385;ExcessHet=13.8672;FS=16.143;InbreedingCoeff=-0.5518;MLEAC=13;MLEAF=0.342;MQ=47.07;MQRankSum=-6.648;QD=1.42;ReadPosRankSum=-2.146;SOR=2.347	GT:AD:DP:GQ:PL	0/1:284,31:315:93:93,0,11316	6	0	13	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36166.4	226	chr2	95855588	.	T	C	36166.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.66;DP=5339;ExcessHet=48.2876;FS=33.512;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.33;MQRankSum=-11.31;QD=6.95;ReadPosRankSum=-3.814;SOR=2.254	GT:AD:DP:GQ:PL	0/1:238,68:306:99:1520,0,7037	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3421	4805.56	85	chr2	95859895	.	T	C	4805.56	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.153;DP=1801;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5223;MLEAC=13;MLEAF=0.342;MQ=58.06;MQRankSum=-0.944;QD=3.74;ReadPosRankSum=0.717;SOR=0.594	GT:AD:DP:GQ:PL	0/1:85,13:98:99:207,0,3516	6	0	13	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	29493.3	133	chr2	95859969	.	A	AT	29493.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.426;DP=2924;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-8.967;QD=10.26;ReadPosRankSum=0.47;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,37:153:99:0|1:95859969_A_AT:1144,0,4719:95859969	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	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	.	.	.	.	.	.	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	29433.3	135	chr2	95859970	.	G	T	29433.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.157;DP=2921;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-9.055;QD=10.21;ReadPosRankSum=0.274;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,37:153:99:0|1:95859969_A_AT:1144,0,4719:95859969	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	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	.	.	.	.	.	.	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	29033.3	133	chr2	95859975	.	C	T	29033.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.208;DP=2893;ExcessHet=48.2876;FS=5.618;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.84;MQRankSum=-9;QD=10.11;ReadPosRankSum=0.168;SOR=0.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,33:149:99:0|1:95859969_A_AT:1036,0,4731:95859969	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	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	.	.	.	.	.	.	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	26746.3	132	chr2	95859988	.	T	C	26746.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.252;DP=2861;ExcessHet=48.2876;FS=6.76;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.72;MQRankSum=-8.913;QD=9.48;ReadPosRankSum=-0.496;SOR=1.161	GT:AD:DP:GQ:PL	0/1:120,31:151:99:901,0,3107	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	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	.	.	.	.	.	.	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	18752.3	122	chr2	95860002	.	T	A	18752.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.06;DP=2730;ExcessHet=48.2876;FS=6.113;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.68;MQRankSum=-8.443;QD=6.95;ReadPosRankSum=-0.759;SOR=1.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,28:143:99:0|1:95860002_T_A:830,0,4612:95860002	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	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	.	.	.	.	.	.	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	23267.3	119	chr2	95860007	.	A	T	23267.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.68;DP=2659;ExcessHet=48.2876;FS=7.204;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.65;MQRankSum=-8.406;QD=8.8;ReadPosRankSum=-1.07;SOR=1.213	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,28:139:99:0|1:95860002_T_A:842,0,4527:95860002	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	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	.	.	.	.	.	.	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	20158.3	113	chr2	95860020	.	G	A	20158.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.619;DP=2471;ExcessHet=48.2876;FS=6.268;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.59;MQRankSum=-8.166;QD=8.31;ReadPosRankSum=-1.454;SOR=1.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:105,22:129:99:.:.:660,0,4317:.	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	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	.	.	.	.	.	.	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	19380.3	111	chr2	95860023	.	A	C	19380.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.39;DP=2404;ExcessHet=48.2876;FS=7.636;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.56;MQRankSum=-8.267;QD=8.09;ReadPosRankSum=-1.399;SOR=1.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,22:129:99:.:.:602,0,4393:.	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	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	.	.	.	.	.	.	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	11904.3	89	chr2	95860046	.	C	A	11904.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.751;DP=1934;ExcessHet=48.2876;FS=11.691;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.24;MQRankSum=-9.124;QD=6.3;ReadPosRankSum=-0.315;SOR=1.619	GT:AD:DP:GQ:PL	0/1:88,14:102:99:322,0,2376	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18862.3	164	chr2	95927222	.	G	GAT	18862.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.6;DP=3163;ExcessHet=48.2876;FS=34.38;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.61;MQRankSum=-10.17;QD=6.03;ReadPosRankSum=-5.284;SOR=3.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,29:147:99:0|1:95927222_G_GAT:863,0,4868:95927222	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	26377.3	184	chr2	95927226	.	GTT	G	26377.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.39;DP=3487;ExcessHet=48.2876;FS=11.32;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.52;MQRankSum=-10.76;QD=7.59;ReadPosRankSum=-5.284;SOR=1.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,35:161:99:0|1:95927222_G_GAT:1090,0,5185:95927222	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	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	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	35910.4	215	chr2	95927234	.	T	C	35910.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.871;DP=3849;ExcessHet=48.2876;FS=7.304;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.28;MQRankSum=-11.77;QD=9.36;ReadPosRankSum=-6.004;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,38:166:99:0|1:95927222_G_GAT:1210,0,5260:95927222	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	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	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	63959.4	272	chr2	95927252	.	A	G	63959.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.312;DP=4936;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.51;MQRankSum=-14.02;QD=13;ReadPosRankSum=-5.496;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,62:204:99:0|1:95927222_G_GAT:2176,0,5776:95927222	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	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	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	87835.4	322	chr2	95927268	.	C	A	87835.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-5.958;DP=5895;ExcessHet=48.2876;FS=3.314;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.8;MQRankSum=-15.82;QD=14.94;ReadPosRankSum=-3.622;SOR=0.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,86:252:99:0|1:95927222_G_GAT:3091,0,6691:95927222	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	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	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	89248.4	328	chr2	95927277	.	C	T	89248.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-6.782;DP=6158;ExcessHet=48.2876;FS=4.127;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.73;MQRankSum=-16.01;QD=14.73;ReadPosRankSum=-1.494;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,88:266:99:0|1:95927222_G_GAT:3099,0,7006:95927222	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	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	.	.	.	.	.	.	.	.	0.5	39801.4	216	chr2	95929092	.	T	C	39801.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.974;DP=3809;ExcessHet=48.2876;FS=9.792;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.28;MQRankSum=-9.617;QD=10.54;ReadPosRankSum=-3.918;SOR=1.353	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,62:215:99:0|1:95929092_T_C:2036,0,6070:95929092	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	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	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	49331.4	246	chr2	95929110	.	A	G	49331.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=8.94;DP=4414;ExcessHet=48.2876;FS=9.734;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=45.28;MQRankSum=-9.563;QD=11.19;ReadPosRankSum=-2.139;SOR=1.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,70:237:99:0|1:95929092_T_C:2437,0,6781:95929092	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	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	.	.	.	.	.	.	.	.	0.5	66098.4	287	chr2	95929126	.	C	A	66098.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.33;DP=5158;ExcessHet=48.2876;FS=18.99;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.08;MQRankSum=-9.946;QD=12.83;ReadPosRankSum=-1.47;SOR=1.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,98:274:99:0|1:95929092_T_C:3585,0,7095:95929092	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	71010.4	295	chr2	95929130	.	G	C	71010.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.88;DP=5365;ExcessHet=48.2876;FS=20.95;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.69;MQRankSum=-9.89;QD=13.27;ReadPosRankSum=-1.093;SOR=1.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,104:281:99:0|1:95929092_T_C:3834,0,7119:95929092	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	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	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	74075.4	304	chr2	95929135	.	C	T	74075.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.95;DP=5621;ExcessHet=48.2876;FS=22.763;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.18;MQRankSum=-9.69;QD=13.51;ReadPosRankSum=-1.078;SOR=1.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,109:284:99:0|1:95929092_T_C:4012,0,7014:95929092	0	0	19	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	9025.83	153	chr2	97185336	.	GC	G	9025.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.382;DP=2743;ExcessHet=31.086;FS=1.658;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=47.08;MQRankSum=-6.249;QD=3.62;ReadPosRankSum=0.503;SOR=0.504	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,24:158:99:1|0:97185332_A_G:604,0,5514:97185332	2	0	17	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	1	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	.	.	.	.	.	.	.	.	0.4474	8913.86	155	chr2	97185340	.	C	G	8913.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.075;DP=2782;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.92;MQRankSum=-5.789;QD=3.53;ReadPosRankSum=0.964;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,24:161:99:1|0:97185332_A_G:595,0,5680:97185332	2	0	17	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8891.83	152	chr2	97185341	.	A	AG	8891.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.346;DP=2792;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=46.81;MQRankSum=-5.722;QD=3.51;ReadPosRankSum=1.18;SOR=0.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,24:165:99:1|0:97185332_A_G:583,0,5848:97185332	2	0	17	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8743.83	157	chr2	97185345	.	GTAAT	G	8743.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.208;DP=2918;ExcessHet=31.086;FS=1.743;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.15;MQRankSum=-5.332;QD=3.29;ReadPosRankSum=2.28;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,24:179:99:1|0:97185332_A_G:541,0,6328:97185332	2	0	17	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	.;.;.	.	.	.	.	.	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	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5263	64897.0	159	chr2	97513220	.	G	A	64897.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.096;DP=3961;ExcessHet=38.2876;FS=4.24;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.14;MQRankSum=-3.677;QD=16.4;ReadPosRankSum=0.819;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,91:166:99:0|1:97513219_T_C:3595,0,2875:97513219	0	1	18	0
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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5263	68935.0	164	chr2	97513227	.	T	C	68935.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=0.29;DP=4239;ExcessHet=38.2876;FS=3.338;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.44;MQRankSum=-4.04;QD=16.5;ReadPosRankSum=0.983;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,98:174:99:0|1:97513219_T_C:3836,0,2896:97513219	0	1	18	0
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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5263	84738.0	186	chr2	97513244	.	G	T	84738.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.875;DP=4777;ExcessHet=38.2876;FS=3.221;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.9;MQRankSum=-3.997;QD=17.8;ReadPosRankSum=0.056;SOR=0.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,118:201:99:0|1:97513244_G_T:4705,0,3024:97513244	0	1	18	0
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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5263	90004.0	197	chr2	97513253	.	A	G	90004.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.442;DP=4968;ExcessHet=38.2876;FS=3.203;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.26;ReadPosRankSum=-0.22;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,126:208:99:0|1:97513244_G_T:5035,0,3003:97513244	0	1	18	0
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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5263	90016.0	197	chr2	97513254	.	C	T	90016.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.225;DP=4978;ExcessHet=38.2876;FS=3.233;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.28;ReadPosRankSum=-0.275;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,126:207:99:0|1:97513244_G_T:5038,0,2981:97513244	0	1	18	0
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	.;.;.	.	.	.	.	.	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	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5263	97631.0	207	chr2	97513268	.	C	T	97631.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.519;DP=5204;ExcessHet=38.2876;FS=2.457;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.34;MQRankSum=-4.276;QD=18.86;ReadPosRankSum=0.097;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,136:215:99:0|1:97513268_C_T:5437,0,2908:97513268	0	1	18	0
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	.;.;.	.	.	.	.	.	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	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5263	95844.0	211	chr2	97513270	.	A	C	95844.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.821;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.42;MQRankSum=-4.193;QD=18.3;ReadPosRankSum=-0.308;SOR=0.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,136:215:99:0|1:97513268_C_T:5437,0,2908:97513268	0	1	18	0
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	.;.;.	.	.	.	.	.	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	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5263	98710.0	209	chr2	97513271	.	T	C	98710.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.177;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.46;MQRankSum=-4.272;QD=18.84;ReadPosRankSum=-0.525;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,135:214:99:0|1:97513268_C_T:5416,0,2911:97513268	0	1	18	0
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	.;.;.	.	.	.	.	.	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	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5263	99301.0	210	chr2	97513281	.	C	T	99301.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.601;DP=5349;ExcessHet=38.2876;FS=2.432;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.86;MQRankSum=-4.794;QD=18.72;ReadPosRankSum=-0.367;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,137:217:99:0|1:97513268_C_T:5395,0,2906:97513268	0	1	18	0
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	.;.;.	.	.	.	.	.	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	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	23586.3	111	chr2	97513354	.	T	C	23586.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.38;DP=3107;ExcessHet=48.2876;FS=1.966;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=39.22;MQRankSum=-3.517;QD=7.83;ReadPosRankSum=0.701;SOR=0.53	GT:AD:DP:GQ:PL	0/1:59,76:135:99:1899,0,1306	0	0	19	0
chr2	97545720	97545720	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon24:c.G1627A:p.D543N	.	631	878	2	11	0	24	0.0134831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0401358	0.0032	0.0099	0.0011	0.0021	0.0014	0.0045	0	8.249e-05	0.0049353	763	154602	rs202068566	0.0015	0.0079	0.0015	0.0015	0.0101	0.0015	0.0014	0.0091	0.0088	0.0101	0.0003	0	0	0.0412	0	2.835e-05	0.0008	7.536e-05	0.0038	0.0045	0.0043	0.0034	0.0108	0.0035	0.0034	0.0099	0.0095	0.0108	0	0.0008	0	0	0.0005	0	5.603e-05	0.0030	0.0002	.	.	.	0.173	0.30143	T	0.006	0.13644	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.695	0.17993	N	.	.	.	.	.	.	0.398	0.43899	.	.	.	.	.	.	.	0.005491048	0.00121	T	.	.	.	.	.	.	.	0.185906805712	0.18197	4.16050493205468E-4	0.00037	.	.	0.743850827217	0.73540	T	0.023296	0.17808	T	-0.0319045	0.47140	T	-0.283605	0.46435	T	.	.	.	0.557944	0.24174	T	0.05115556	0.09351	0.0730632	0.15835	0.05115556	0.09350	0.0730632	0.15835	-5.803	0.44600	T	.	.	0.114	0.31882	B	.;.;.	.;.;.	2.046137	0.26014	16.97	0.3368146854038564	0.02019	0.02506	0.06996	N	AEFBI	.	.	.	.	.	.	.	.	.	3.35830703131488E-4	0.06583	0.074898	0.01738	0	0.063388	0.01293	0	0.063197	0.01477	0	0.088406	0.02457	0	0.0489367	0.08445	0.882	0.882	0.18306	1.688000	0.37308	-0.373000	0.09593	0.564000	0.28548	0.772000	0.29380	0.000000	0.08366	0.010000	0.09038	0.0:1.0:0.0:0.0	5.059	0.13883	334	0.86273	.;.;.	.	.	.	.	.	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	0.009259	0.013889	0.004983	0.000000	0.000000	0.010638	0.033613	0.004348	0.1176	156.02	33	chr2	97545720	.	C	T	156.02	.	AC=4;AF=0.118;AN=34;DP=579;ExcessHet=0;FS=0;InbreedingCoeff=0.9334;MLEAC=3;MLEAF=0.088;MQ=29.46;QD=26;SOR=3.912	GT:AD:DP:GQ:PL	1/1:0,3:3:9:89,9,0	15	2	0	2
chr2	97814299	97814299	G	A	exonic	TMEM131	.	nonsynonymous SNV	TMEM131:NM_015348:exon14:c.C1382T:p.T461I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00915928553797	8.3e-05	0.000399361	0.0002	0.0001	8.67e-05	0	0.0005	0.0002	0	0.0008	0.0002458	38	154602	rs201622776	0.0003	0.0003	0.0004	0.0003	0.0006	0.0003	0.0003	0.0005	0.0004	5.975e-05	8.946e-05	0	0	0.0005	0	0.0004	0.0002	0.0006	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	0.0001	0	0	0.0003	0	0.0004	0	0.0003	0.0009	0.0010	0.06	0.37326	T	0.002	0.79402	D	0.997	0.70673	D	0.879	0.62418	P	0.000000	0.84330	D	0.053824	0.999999	0.58761	D	2.125	0.59049	M	1.38	0.34050	T	-3.34	0.66325	D	0.442	0.48042	-0.9607	0.39050	T	0.138	0.45526	T	10	0.1337358	0.25453	T	0.009159	0.24083	T	0.267	0.58126	.	.	0.043077524339	0.03247	0.43165223521929397	0.43082	0.726433526448	0.62512	0.765551447868	0.76757	T	0.227265	0.59251	T	-0.201594	0.20575	T	-0.166558	0.57757	T	0.30878472328186	0.25364	T	0.877512	0.59164	D	0.35875362	0.57740	0.2988008	0.55914	0.35875362	0.57741	0.2988008	0.55913	-9.421	0.70367	D	.	.	0.559	0.67174	A	.	.	4.832832	0.78829	27.0	0.99916711405858605	0.98449	0.98773	0.86667	D	AEFBI	0.826671	0.74611	D	0.631896357196981	0.75203	6.264467	0.674111826890011	0.80418	7.294351	0.999999999994946	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	7.334000	0.78476	11.891000	0.99093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.341	0.94330	459	0.78817	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1352.33	33	chr2	97814299	.	G	A	1352.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.442;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-0.122;SOR=0.713	GT:AD:DP:GQ:PL	0/1:58,54:112:99:1366,0,1469	18	0	1	0
chr2	99390613	99390613	G	A	exonic	EIF5B	.	nonsynonymous SNV	EIF5B:NM_015904:exon17:c.G2656A:p.D886N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.694	0.142793453651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.061	0.45530	T	0.793	0.44725	P	0.56	0.49558	P	.	.	.	.	1	0.81001	D	3.315	0.90654	M	-0.73	0.73100	T	-3.97	0.73684	D	0.63	0.64393	0.213	0.86132	D	0.544	0.83208	D	8	0.9126357	0.90628	D	0.142793	0.82515	D	0.694	0.88913	0.864	0.95995	0.614425270908	0.61131	0.5763173653873808	0.57560	1.7600581582	0.91115	0.812806487083	0.83922	D	0.653892	0.89531	D	0.0869895	0.62849	D	-0.112822	0.62385	T	0.973848506784709	0.70263	D	0.962504	0.86259	D	0.34774193	0.56891	0.34795704	0.60442	0.34774193	0.56891	0.34795704	0.60441	-8.071	0.61553	D	.	.	0.280	0.51332	B	.;.	.;.	5.402828	0.90465	31	0.99929077074018369	0.99279	0.99272	0.93765	D	AEFBI	0.905520	0.85714	D	0.797561309752087	0.85951	8.732649	0.800243538308844	0.89809	10.13081	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	9.802000	0.98244	11.789000	0.96319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.811	0.96543	441	0.80015	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	323.58	38	chr2	99390613	.	G	A	323.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.215;DP=1448;ExcessHet=0.119;FS=184.646;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.53;ReadPosRankSum=-0.083;SOR=7.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:82,13:102:99:.:.:157,0,2950:.	16	0	2	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	.	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017464	0.010000	0.019337	0.010417	0.000000	0.044643	0.008547	0.012931	0.02632	770.33	44	chr2	107838873	.	G	T	770.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.585;DP=756;ExcessHet=0;FS=2.101;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=28.86;MQRankSum=-0.07;QD=12.04;ReadPosRankSum=0.836;SOR=0.99	GT:AD:DP:GQ:PL	0/1:27,37:64:99:784,0,562	18	0	1	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	20118.8	247	chr2	108259015	.	G	*	20118.8	.	AC=15;AF=0.417;AN=36;BaseQRankSum=0.946;DP=3585;ExcessHet=3.336;FS=0;InbreedingCoeff=-0.1382;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=6.39;ReadPosRankSum=0.017;SOR=0.676	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,169:169:99:.:.:7550,515,0:.	6	3	9	1
chr2	112389745	112389745	A	T	exonic	RGPD5;RGPD8	.	nonsynonymous SNV	RGPD8:NM_001164463:exon20:c.T3200A:p.F1067Y,RGPD5:NM_005054:exon20:c.T3200A:p.F1067Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	0.00966507269189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392	0.23007	T	0.536	0.09897	T	0.674	0.41239	P	0.829	0.59562	P	.	.	.	.	0.527576	0.31948	D	0.335	0.10427	N	0.97	0.42502	T	-1.63	0.39119	N	0.784	0.78072	-1.0335	0.19332	T	0.098	0.36754	T	9	0.7097076	0.72965	D	0.009665	0.25245	T	0.270	0.58507	0.809	0.92581	0.0138822411134	0.00435	0.010744106004135221	0.01035	.	.	0.900638580322	0.96512	D	0.027897	0.30725	T	-0.0681728	0.41618	T	-0.335702	0.40831	T	0.398162806182405	0.28873	T	0.791221	0.45479	T	0.13623948	0.31589	0.07944704	0.17886	0.13623948	0.31589	0.07944704	0.17886	-2.784	0.08037	T	.	.	0.248	0.54146	B	.;.	.;.	3.247373	0.44358	21.9	0.87674924704279578	0.17399	0.86335	0.45595	D	AEI	0.449616	0.50436	N	-0.139648975632851	0.35676	2.052275	-0.181101952415185	0.32231	1.831716	1.8629812697016E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.3	2.3	0.27735	5.797000	0.68743	-0.031000	0.12795	0.330000	0.19542	1.000000	0.71638	0.000000	0.08366	0.834000	0.39329	0.715:0.0:0.0:0.2849	4.631	0.11888	915	0.20917	Ran binding domain|Ran binding domain|Ran binding domain;Ran binding domain|Ran binding domain|Ran binding 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	.	.	.	.	.	.	.	.	0.02632	854.33	45	chr2	112389745	.	A	T	854.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.539;DP=1043;ExcessHet=0;FS=2.534;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=26.16;MQRankSum=3.31;QD=8.72;ReadPosRankSum=-2.112;SOR=0.397	GT:AD:DP:GQ:PL	0/1:60,38:98:99:868,0,1486	18	0	1	0
chr2	112913015	112913015	G	A	exonic	IL37	.	startloss	IL37:NM_014439:exon2:c.G3A:p.M1?,IL37:NM_173202:exon2:c.G3A:p.M1?,IL37:NM_173203:exon2:c.G3A:p.M1?,IL37:NM_173204:exon2:c.G3A:p.M1?	.	.	.	.	.	.	.	.	.	.	.	3225390	Inflammatory_bowel_disease_(infantile_ulcerative_colitis)_31,_autosomal_recessive	MONDO:MONDO:0030314,MedGen:C5444224,OMIM:619398	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.283	0.0580025385033	.	.	8.252e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs776169140	1.752e-05	1.779e-05	1.254e-05	2.256e-05	2.093e-05	1.203e-05	1.016e-05	1.394e-05	1.164e-05	0	0	0	0	0	0	2.093e-05	1.694e-05	1.251e-05	4.6e-05	4.597e-05	7.708e-05	1.345e-05	7.349e-05	2.109e-05	1.527e-05	2.846e-05	1.858e-05	0	0	6.542e-05	0	0	0	0	7.349e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	0.924	0.52359	P	0.827	0.59428	P	0.053709	0.22785	N	0.232221	0.998468	0.22137	N	.	.	.	0.24	0.59583	T	-0.79	0.25986	N	0.851	0.84713	-0.4621	0.69997	T	0.292	0.66326	T	9	0.9669539	0.96198	D	0.058003	0.67166	D	0.283	0.60100	0.974	0.99756	0.408172294925	0.40431	0.21522970099255834	0.21438	.	.	.	.	.	0.001749	0.01176	T	0.253032	0.78885	D	0.150867	0.80240	D	0.991132080554962	0.81393	D	0.9	0.65058	D	0.9130142	0.92577	0.75102955	0.85284	0.9130142	0.92578	0.75102955	0.85285	-6.594	0.53873	T	.	.	.	.	.	.;.;.;.	.;.;.;.	3.021527	0.40446	21.2	0.99252197031941614	0.56924	0.57516	0.30397	D	AEFBI	0.012603	0.00142	N	-0.0255035817597636	0.40703	2.421786	-0.107337978795715	0.35094	2.026264	0.0226527280151388	0.13447	0.549168	0.22868	0	0.588066	0.40923	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	3.04	3.04	0.34171	1.566000	0.36005	2.600000	0.33516	0.672000	0.70159	0.937000	0.32526	1.000000	0.68203	0.476000	0.28476	0.0:0.0:1.0:0.0	9.812	0.39994	670	0.60992	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	304.33	34	chr2	112913015	.	G	A	304.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.55;DP=642;ExcessHet=0;FS=1.276;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.08;ReadPosRankSum=-0.558;SOR=0.42	GT:AD:DP:GQ:PL	0/1:29,14:43:99:318,0,742	18	0	1	0
chr2	128145957	128145957	C	T	exonic	UGGT1	.	nonsynonymous SNV	UGGT1:NM_020120:exon18:c.C2006T:p.A669V	.	438	1053	31	0	0	31	0.0145063	.	.	.	719238	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.245	.	0.0022	0.00539137	0.0050	0.0004	0.0019	0.0002	0.0002	0.0034	0.0077	0.0204	0.0045666	706	154602	rs145894335	0.0033	0.0033	0.0027	0.0039	0.0209	0.0032	0.0031	0.0201	0.0198	0.0003	0.0024	0.0070	0	0.0002	0.0109	0.0021	0.0040	0.0209	0.0023	0.0023	0.0023	0.0023	0.0155	0.0021	0.0021	0.0127	0.0117	0.0004	0	0.0022	0.0066	0	0.0003	0.0136	0.0029	0.0033	0.0155	0.004	0.65419	D	0.01	0.65728	D	0.892	0.49086	P	0.242	0.38699	B	0.000000	0.84330	D	0.047393	1	0.81001	D	2.81	0.81869	M	1.52	0.30669	T	-3.12	0.63782	D	0.645	0.65673	-0.9866	0.33445	T	0.122	0.42441	T	10	0.011684418	0.00254	T	.	.	.	0.245	0.55201	.	.	0.895439184812	0.89440	0.8481167545759013	0.84772	0.0697944257895	0.07817	0.720441579819	0.70111	T	0.218714	0.58152	T	-0.125224	0.32271	T	0.0455578	0.73290	D	0.0234209251446868	0.01074	T	0.938306	0.76795	D	0.4475158	0.63884	0.3700085	0.62259	0.4475158	0.63884	0.3700085	0.62258	-9.733	0.72297	D	.	.	0.304	0.53308	B	.	.	3.786032	0.54463	23.5	0.99879059546602955	0.95572	0.98365	0.82038	D	AEFBI	0.569740	0.57440	D	0.573095046566848	0.71499	5.660151	0.610219403928439	0.75680	6.353748	0.999999999999041	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	5.696000	0.67947	4.821000	0.45119	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:1.0:0.0:0.0	19.953	0.97211	352	0.85375	.	.	.	.	.	.	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	0.009567	0.000000	0.006793	0.008772	0.000000	0.017241	0.012195	0.007576	0.02632	1197.33	34	chr2	128145957	.	C	T	1197.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.362;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=0.39;SOR=0.693	GT:AD:DP:GQ:PL	0/1:40,46:86:99:1211,0,976	18	0	1	0
chr2	130074756	130074756	G	A	exonic	POTEF	.	nonsynonymous SNV	POTEF:NM_001099771:exon17:c.C2716T:p.R906W	.	10	1511	1	0	0	1	0.000330797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.419	0.011753552245	.	.	2.569e-05	0	0	0	0	4.532e-05	0	0	3.84e-05	1	26028	rs767643792	5.921e-05	0.0001	7.811e-05	4.012e-05	0.0005	4.907e-05	4.525e-05	0.0003	0.0002	0.0005	2.252e-05	0.0013	2.524e-05	0	0	2.348e-05	0.0001	0	4.464e-05	8.097e-05	5.123e-05	3.741e-05	1.811e-05	1.705e-05	1.048e-05	.	.	0	0	0	0.0014	0	0	0	1.811e-05	0	0	0.0	0.91255	D	0.018	0.59732	D	1.0	0.90584	D	0.984	0.76113	D	.	.	.	.	0.996296	0.23058	N	4.035	0.96960	H	-3.53	0.94764	D	-5.99	0.89401	D	0.358	0.39962	0.464	0.90040	D	0.890	0.96338	D	8	0.6248418	0.68183	D	0.011754	0.29684	T	0.419	0.72855	0.761	0.88972	0.224531998449	0.22054	0.26440055664724665	0.26353	.	.	0.51852196455	0.41418	T	0.568847	0.85690	D	0.117669	0.66138	D	-0.0687535	0.65715	T	0.368645254086549	0.27746	T	0.864914	0.56300	D	0.10784629	0.25500	0.22893003	0.47950	0.10784629	0.25500	0.22893003	0.47949	-10.043	0.74169	D	.	.	0.191	0.41063	B	.	.	2.601194	0.33767	19.44	0.96653118823940254	0.30596	0.12645	0.17395	N	AEFI	0.148416	0.27229	N	-0.574327537940568	0.19727	1.034722	-0.926740504173687	0.11464	0.5841918	1.09804713802342E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	1.151000	0.31263	.	.	-1.580000	0.00921	1.000000	0.71638	0.017000	0.20586	0.006000	0.07323	0.3273:0.0:0.3415:0.3311	1.479	0.02286	982	0.03397	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	484.33	185	chr2	130074756	.	G	A	484.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.676;DP=1344;ExcessHet=0;FS=24.992;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.59;MQRankSum=0.534;QD=10.3;ReadPosRankSum=0.64;SOR=2.225	GT:AD:DP:GQ:PL	0/1:25,22:47:99:498,0,602	18	0	1	0
chr2	130110630	130110630	A	G	exonic	POTEF	.	nonsynonymous SNV	POTEF:NM_001099771:exon7:c.T968C:p.L323P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.00601161705397	.	0.00119808	0.0005	0.0051	0.0005	0	0	0	0	0	0.0002305	6	26028	rs201878365	0.0004	0.0014	0.0004	0.0003	0.0046	0.0003	0.0003	0.0039	0.0036	0.0046	0.0002	4.554e-05	2.713e-05	0	0.0003	0.0003	0.0005	5.304e-05	0.0004	0.0009	0.0004	0.0005	0.0024	0.0003	0.0003	0.0018	0.0016	0.0024	0	0	0	0	0	0	1.915e-05	0.0008	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.991	0.79672	D	0.636690	0.10636	U	0.705821	0.99454	0.23497	N	3.44	0.92123	M	-0.45	0.69896	T	-1.19	0.30346	N	0.756	0.75466	-0.5232	0.67796	T	0.547	0.83364	D	10	0.030408233	0.01167	T	0.006012	0.15698	T	0.443	0.74588	0.462	0.53079	0.538974603628	0.53549	0.4094986619098943	0.40865	.	.	0.908264398575	0.97303	D	0.075038	0.35083	T	0.14264	0.68575	D	-0.0328833	0.68177	D	0.189734019777998	0.19828	T	0.416558	0.10945	T	0.39482892	0.60373	0.1671358	0.38576	0.39482892	0.60373	0.1671358	0.38575	-12.161	0.85627	D	.	.	0.826	0.78551	P	.;.	.;.	2.735697	0.35818	20.0	0.99494765004036023	0.67687	0.18962	0.20473	N	AEFI	0.126447	0.24339	N	0.166774480425964	0.49609	3.159374	-0.149590111319636	0.33424	1.911801	1.61241616938762E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.887	0.887	0.18335	3.685000	0.54410	.	.	0.339000	0.19733	0.983000	0.35670	0.013000	0.20296	0.009000	0.08673	1.0:0.0:0.0:0.0	4.064	0.09330	982	0.03397	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing 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	.	.	.	.	.	.	.	.	0.02632	185.33	34	chr2	130110630	.	A	G	185.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.934;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=33.47;MQRankSum=0.819;QD=9.75;ReadPosRankSum=-0.761;SOR=0.321	GT:AD:DP:GQ:PL	0/1:12,7:19:99:199,0,357	18	0	1	0
chr2	130120076	130120081	GCAGCT	-	exonic	POTEF	.	nonframeshift deletion	POTEF:NM_001099771:exon3:c.435_440del:p.R145_A147delinsS	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.000798722	6.089e-05	0.0006	0.0002	0	0	0	0	0	0.0001537	4	26028	rs528233858	0.0001	0.0001	0.0001	7.711e-05	0.0039	9.062e-05	8.544e-05	0.0034	0.0032	0.0039	0.0001	0	0	0	0	0	0.0002	0	0.0006	0.0009	0.0006	0.0007	0.0026	0.0005	0.0005	0.0022	0.0020	0.0026	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1454.29	33	chr2	130120075	.	GGCAGCT	G	1454.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.996;DP=976;ExcessHet=0;FS=1.042;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=34.73;MQRankSum=-0.605;QD=15.15;ReadPosRankSum=1.2;SOR=0.863	GT:AD:DP:GQ:PL	0/1:56,40:96:99:1468,0,2222	18	0	1	0
chr2	130463328	130463328	G	A	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon15:c.C2716T:p.R906W,POTEI:NM_001371926:exon17:c.C2782T:p.R928W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.379	0.00924961912642	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1419461472	0.0001	0.0001	0.0002	9.021e-05	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	4.608e-05	0.0028	2.599e-05	0	0.0002	5.474e-05	0.0003	2.381e-05	6.695e-05	0.0002	8.067e-05	4.995e-05	0.0003	1.775e-05	8.92e-06	.	.	6.772e-05	0	0.0003	0.0009	0	0	0	0	0	0	0.0	0.91255	D	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	0.995258	0.23335	N	3.785	0.95291	H	-3.53	0.94764	D	-5.74	0.87687	D	0.257	0.29081	0.515	0.90753	D	0.891	0.96375	D	6	0.27030283	0.44561	T	0.00925	0.24296	T	0.379	0.69696	0.732	0.86547	0.575246599268	0.57192	0.15534679830196535	0.15455	.	.	0.613530874252	0.54814	T	0.553042	0.84900	D	-0.0463498	0.45000	T	-0.0142117	0.69409	D	0.415594915952879	0.29527	T	0.864914	0.56300	D	0.1584009	0.35639	0.2432071	0.49760	0.1584009	0.35638	0.2432071	0.49758	-10.494	0.76813	D	.	.	0.204	0.42962	B	.	.	3.267633	0.44713	22.0	0.99687294510434277	0.79708	0.16037	0.19201	N	AEFI	0.323385	0.42560	N	-0.25053336129287	0.31081	1.73936	-0.536842343947179	0.21156	1.14315	1.16600828321794E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	2.185000	0.42215	.	.	0.189000	0.17846	1.000000	0.71638	0.779000	0.26763	0.024000	0.12247	3.0E-4:2.0E-4:0.5045:0.4949	2.877	0.05288	982	0.03397	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	56.39	33	chr2	130463328	.	G	A	56.39	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.12;DP=274;ExcessHet=0;FS=0;InbreedingCoeff=-0.0308;MLEAC=1;MLEAF=0.026;MQ=25.72;MQRankSum=2.93;QD=2.97;ReadPosRankSum=-1.051;SOR=0.321	GT:AD:DP:GQ:PL	0/1:15,4:19:70:70,0,360	18	0	1	0
chr2	130509011	130509011	A	0	exonic	POTEI	.	.	.	.	429	960	87	2	44	135	0.0452511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	996.22	501	chr2	130509011	.	A	*	996.22	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.39;DP=3066;ExcessHet=0.7564;FS=4.114;InbreedingCoeff=-0.1176;MLEAC=2;MLEAF=0.053;MQ=56.3;MQRankSum=-8.752;QD=0.6;ReadPosRankSum=-3.796;SOR=1.158	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:251,162:413:99:0|1:130508978_GTGGTCTCCAGAAGTGCCCACGTTGCTCTTGCCACTCCCCCTGCAGCAGGGGAAGCAGTGGCAGCACCACTTGCCCATCTTGCTCCTGAGTGTCTTCATAGTGGAGTCGTCC_G:2237,0,8967:130508978	17	0	2	0
chr2	130509017	130509017	C	0	exonic	POTEI	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3726.52	130	chr2	130509017	.	C	*	3726.52	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.436;DP=2619;ExcessHet=0.3672;FS=2.539;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=57.91;MQRankSum=-0.355;QD=3.28;ReadPosRankSum=-0.383;SOR=0.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:251,162:413:99:0|1:130508978_GTGGTCTCCAGAAGTGCCCACGTTGCTCTTGCCACTCCCCCTGCAGCAGGGGAAGCAGTGGCAGCACCACTTGCCCATCTTGCTCCTGAGTGTCTTCATAGTGGAGTCGTCC_G:2237,0,8967:130508978	17	0	2	0
chr2	130509040	130509151	AGCACCACTTGCCCATCTTGCTCCTGAGTGTCTTCATAGTGGAGTCGTCCTGGTCTCCAGAAGTGCCCACGTTGCTCTTGCCGCTCCCCCTGCAGCAGGGGAAGCAGTGGCG	0	exonic	POTEI	.	.	.	.	438	1014	22	0	48	70	0.0107317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2503.48	130	chr2	130509040	.	AGCACCACTTGCCCATCTTGCTCCTGAGTGTCTTCATAGTGGAGTCGTCCTGGTCTCCAGAAGTGCCCACGTTGCTCTTGCCGCTCCCCCTGCAGCAGGGGAAGCAGTGGCG	*	2503.48	.	AC=2;AF=0.053;AN=38;BaseQRankSum=5;DP=2353;ExcessHet=0.3672;FS=2.702;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=53.96;MQRankSum=2.05;QD=2.32;ReadPosRankSum=-4.673;SOR=0.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:251,162:413:99:0|1:130508978_GTGGTCTCCAGAAGTGCCCACGTTGCTCTTGCCACTCCCCCTGCAGCAGGGGAAGCAGTGGCAGCACCACTTGCCCATCTTGCTCCTGAGTGTCTTCATAGTGGAGTCGTCC_G:2237,0,8967:130508978	17	0	2	0
chr2	130657365	130657365	C	T	exonic	POTEJ	.	nonsynonymous SNV	POTEJ:NM_001277083:exon15:c.C2605T:p.R869W	.	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.00494755541337	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs753778996	2.436e-05	4.645e-05	2.773e-05	2.097e-05	9.412e-05	1.769e-05	1.566e-05	2.494e-05	1.408e-05	9.412e-05	0	0	0	1.877e-05	0	2.383e-05	5.043e-05	2.326e-05	6.881e-05	7.921e-05	6.715e-05	7.055e-05	0.0001	3.673e-05	2.83e-05	2.905e-05	1.9e-05	8.012e-05	0	0.0001	0	0	0	0	7.55e-05	0	0	0.0	0.91255	D	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	0.993767	0.23652	N	3.585	0.93597	H	-3.53	0.94764	D	-6.23	0.90490	D	0.433	0.47208	0.524	0.90879	D	0.892	0.96408	D	7	0.633593	0.68655	D	0.004948	0.12473	T	0.381	0.69863	0.619	0.75347	0.782959667303	0.78095	0.27008664431921553	0.26921	.	.	.	.	.	0.558508	0.85179	D	0.174883	0.71571	D	0.0134312	0.71204	D	0.794588736723283	0.45991	D	0.864914	0.56300	D	0.30595618	0.53433	0.26759586	0.52619	0.30595618	0.53433	0.26759586	0.52618	-10.046	0.74187	D	.	.	0.164	0.36214	B	.	.	2.963228	0.39466	21.0	0.99720415064130596	0.81984	0.16741	0.19528	N	AEFI	.	.	.	-0.25647436305523	0.30846	1.723829	-0.545349225353148	0.20929	1.129854	1.6014627922771E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.736	-1.47	0.08312	2.640000	0.46245	.	.	0.196000	0.17891	1.000000	0.71638	0.880000	0.27694	0.012000	0.09680	0.6188:0.3811:0.0:0.0	3.917	0.08726	964	0.07719	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	193.33	103	chr2	130657365	.	C	T	193.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.034;DP=1532;ExcessHet=0;FS=8.01;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.54;MQRankSum=-4.116;QD=1.56;ReadPosRankSum=2.43;SOR=1.241	GT:AD:DP:GQ:PL	0/1:102,22:124:99:207,0,2737	18	0	1	0
chr2	131218837	131218842	AGCTGC	-	exonic	POTEE	.	nonframeshift deletion	POTEE:NM_001083538:exon4:c.435_440del:p.R145_A147delinsS	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1314897064	4.793e-06	6.704e-05	4.088e-06	5.506e-06	0.0002	1.99e-06	1.28e-06	7.853e-05	5.332e-05	0.0002	0	0	0	0	0	0	1.66e-05	0	3.286e-05	0.0004	5.144e-05	1.344e-05	0.0001	1.261e-05	7.98e-06	4.742e-05	3.056e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	286.29	36	chr2	131218836	.	GAGCTGC	G	286.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.543;DP=1015;ExcessHet=0;FS=18.268;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.7;MQRankSum=-6.592;QD=0.94;ReadPosRankSum=-0.364;SOR=1.726	GT:AD:DP:GQ:PL	0/1:277,27:304:99:300,0,11502	18	0	1	0
chr2	131228294	131228294	T	C	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon8:c.T968C:p.L323P	.	500	1021	1	0	0	1	0.000489476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.051297894719	.	.	0.0001	0.0010	0	0	0	7.336e-05	0	0	3.84e-05	1	26028	rs756509399	6.305e-05	0.0001	8.046e-05	4.546e-05	0.0023	5.237e-05	4.854e-05	0.0019	0.0017	0.0023	6.714e-05	0	0	0	0	1.799e-06	0.0002	0	0.0005	0.0008	0.0005	0.0006	0.0019	0.0004	0.0004	0.0016	0.0015	0.0019	0	6.537e-05	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.991	0.79672	D	0.636690	0.10636	U	0.705821	0.999993	0.23430	N	3.97	0.96570	H	-0.45	0.69896	T	-1.19	0.30346	N	0.773	0.77039	-0.6439	0.62979	T	0.452	0.78603	T	10	0.35395676	0.52191	T	0.051298	0.64601	D	0.345	0.66676	.	.	0.632812818788	0.62980	0.3628526703399157	0.36199	.	.	0.906807422638	0.97160	D	0.078594	0.35930	T	0.107627	0.65106	D	-0.0831778	0.64670	T	0.343496051579805	0.26762	T	0.416558	0.10945	T	0.40444222	0.61039	0.1740594	0.39774	0.40444222	0.61039	0.1740594	0.39774	-12.149	0.89854	D	.	.	0.920	0.84184	P	.;.;.	.;.;.	2.634349	0.34263	19.58	0.99453899453103745	0.65427	0.16849	0.19576	N	AEFI	0.129816	0.24813	N	0.0637076661703731	0.44775	2.745475	-0.214087939344784	0.31030	1.752327	1.61241616938762E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	0.887	0.887	0.18335	3.235000	0.51027	.	.	0.312000	0.19173	0.980000	0.35271	0.178000	0.23398	0.037000	0.13953	0.0:0.0:0.0:1.0	4.064	0.09330	929	0.16858	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing 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	.	.	.	.	.	.	.	.	0.02632	1362.33	34	chr2	131228294	.	T	C	1362.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.62;DP=802;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.44;MQRankSum=-0.227;QD=9.08;ReadPosRankSum=-1.222;SOR=0.673	GT:AD:DP:GQ:PL	0/1:83,67:150:99:1376,0,1828	18	0	1	0
chr2	131252927	131252927	T	G	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon16:c.T1606G:p.F536V	.	416	1071	35	0	0	35	0.0160772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0064	.	0.0161	0.0489	0.0163	0	0.0064	0.0126	0.0368	0.0107	0.0020828	322	154602	rs201546189	0.0023	0.0033	0.0021	0.0025	0.0228	0.0022	0.0022	0.0195	0.0182	0.0161	0.0028	0.0089	0	0.0011	0.0228	0.0017	0.0037	0.0023	0.0061	0.0084	0.0063	0.0059	0.0151	0.0058	0.0056	0.0141	0.0137	0.0151	0	0.0041	0.0099	0	0.0005	0.0241	0.0026	0.0043	0.0025	0.001	0.78490	D	0.087	0.40747	T	0.462	0.36386	P	0.307	0.41295	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-1.08	0.77078	T	-0.13	0.08971	N	0.3	0.33904	-0.9083	0.47061	T	0.153	0.48257	T	8	0.0038359165	0.00072	T	.	.	.	0.124	0.34239	.	.	0.191931220699	0.18833	0.003083568723920587	0.00287	.	.	0.595366954803	0.52251	T	0.015359	0.12902	T	-0.49042	0.00646	T	-0.461635	0.26420	T	0.0164105266737759	0.00408	T	0.253475	0.03884	T	0.11846394	0.27910	0.19530182	0.43200	0.11846394	0.27910	0.19530182	0.43199	-2.083	0.03512	T	.	.	0.089	0.12371	B	.	.	1.280274	0.16797	12.77	0.7072585159487782	0.09390	0.00468	0.02246	N	AEI	0.026109	0.01904	N	-1.10895542048966	0.06483	0.2985627	-1.27945934883257	0.04709	0.2227442	1.83194705707854E-6	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	0.348	-0.696	0.10719	0.866000	0.27608	.	.	0.488000	0.22294	0.005000	0.17040	0.000000	0.08366	0.010000	0.09038	.	.	.	929	0.16858	.	.	.	.	.	.	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	0.027778	0.013889	0.032303	0.066372	0.000000	0.053571	0.015038	0.008000	0.02632	1011.33	34	chr2	131252927	.	T	G	1011.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.175;DP=940;ExcessHet=0;FS=0.51;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.85;MQRankSum=-0.378;QD=3.33;ReadPosRankSum=-0.403;SOR=0.739	GT:AD:DP:GQ:PL	0/1:234,70:304:99:1025,0,5653	18	0	1	0
chr2	131479422	131479422	T	A	exonic	TUBA3D	.	nonsynonymous SNV	TUBA3D:NM_080386:exon3:c.T341A:p.I114N	.	420	1099	3	0	0	3	0.00136302	.	.	.	707721	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.424	.	.	.	0.0048	0.0514	0.0026	0	0	0.0003	0.0055	6.058e-05	0.0038421	594	154602	rs148497877	0.0002	0.0012	0.0002	0.0001	0.0053	0.0001	0.0001	0.0046	0.0044	0.0053	0.0002	0	0	0	0.0003	8.994e-06	0.0005	2.319e-05	0.0014	0.0055	0.0013	0.0015	0.0049	0.0012	0.0012	0.0043	0.0041	0.0049	0	0.0007	0	0	0	0	1.471e-05	0.0014	0	.	.	.	0.022	0.57587	D	.	.	.	.	.	.	0.000287	0.46274	U	0.000000	0.999585	0.47691	D	.	.	.	-0.51	0.70597	T	-3.86	0.72471	D	0.97	0.98065	-0.4281	0.71128	T	0.336	0.70273	T	10	0.013592124	0.00288	T	.	.	.	0.424	0.73226	.	.	0.559044820595	0.55565	0.8252579665916356	0.82483	.	.	0.658026874065	0.61127	T	.	.	.	-0.294385	0.09201	T	-0.182667	0.56277	T	0.0711726129563591	0.08814	T	.	.	.	0.24902523	0.47894	0.29107398	0.55132	0.24902523	0.47894	0.29107398	0.55131	-11.878	0.84251	D	.	.	0.582	0.68135	P	.	.	4.190803	0.63158	24.5	0.96044983805579476	0.28544	0.79371	0.39318	D	AEFGCI	0.742309	0.68597	D	-0.09263090310879	0.37716	2.198237	-0.0865132355096149	0.35948	2.085853	0.978561469127381	0.29935	0.581397	0.33459	0	0.588066	0.40923	0	0.602189	0.34648	0	0.622129	0.49086	0	.	.	2.24	2.24	0.27264	6.887000	0.75425	.	.	0.475000	0.22001	1.000000	0.71638	0.999000	0.35428	0.962000	0.52141	0.0:0.0:0.0:1.0	8.038	0.29662	940	0.13648	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase 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	1	0	0.008466	0.005051	0.020380	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1633.33	37	chr2	131479422	.	T	A	1633.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.256;DP=791;ExcessHet=0;FS=0.59;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=40.1;MQRankSum=2.91;QD=9.84;ReadPosRankSum=0.773;SOR=0.793	GT:AD:DP:GQ:PL	0/1:92,74:166:99:1647,0,2632	18	0	1	0
chr2	134986803	134986803	G	A	exonic	MAP3K19	.	nonsynonymous SNV	MAP3K19:NM_001018044:exon5:c.C1730T:p.S577L,MAP3K19:NM_001321177:exon7:c.C2120T:p.S707L,MAP3K19:NM_025052:exon7:c.C2069T:p.S690L	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.116860808735	0.0038	0.00239617	0.0036	0.0012	0.0026	0	0.0008	0.0054	0.0033	0.0018	0.0034799	538	154602	rs55867035	0.0040	0.0040	0.0039	0.0040	0.0059	0.0039	0.0038	0.0044	0.0043	0.0007	0.0037	0.0068	0	0.0011	0.0059	0.0045	0.0036	0.0015	0.0037	0.0037	0.0039	0.0035	0.0054	0.0035	0.0034	0.0050	0.0048	0.0011	0.0187	0.0048	0.0063	0.0002	0.0008	0.0102	0.0054	0.0057	0.0023	0.0	0.91255	D	0.001	0.83351	D	0.998	0.77913	D	0.608	0.57337	P	0.015622	0.28194	N	0.170573	1	0.81001	D	2.455	0.71248	M	-1.1	0.78537	T	-2.93	0.61284	D	0.1	0.23884	0.030	0.82852	D	0.468	0.79460	T	10	0.008818835	0.00200	T	0.116861	0.79648	D	0.255	0.56562	.	.	0.816400970077	0.81467	0.31529524285398297	0.31442	0.124052883674	0.13968	0.394872546196	0.24353	T	0.009168	0.08364	T	-0.251388	0.13928	T	-0.132511	0.60761	T	0.0447551780606734	0.04557	T	0.864713	0.59112	D	0.31624252	0.54320	0.32199183	0.58143	0.31624252	0.54320	0.32199183	0.58142	-3.949	0.26082	T	.	.	0.092	0.18828	B	.;.;.;.;.	.;.;.;.;.	3.238386	0.44194	21.9	0.99864946210166361	0.94276	0.92047	0.54827	D	AEFBI	0.377990	0.46155	N	0.367295993602464	0.59658	4.147141	0.33157358952513	0.57405	3.905999	0.506580128004331	0.20986	0.603402	0.35316	0	0.588066	0.40923	0	0.573888	0.23631	0	0.663205	0.64265	0	.	.	5.67	5.67	0.87673	2.462000	0.44706	8.346000	0.77004	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.109000	0.18697	0.0:0.0:1.0:0.0	19.778	0.96401	897	0.25382	.;.;.;.;.	.	.	.	.	.	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	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2454.33	34	chr2	134986803	.	G	A	2454.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.448;DP=842;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.645;SOR=0.664	GT:AD:DP:GQ:PL	0/1:97,93:190:99:2468,0,2623	18	0	1	0
chr2	135876353	135876353	C	T	exonic	MCM6	.	nonsynonymous SNV	MCM6:NM_005915:exon1:c.G13A:p.A5T	Lactase persistence/nonpersistence, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.0169246003799	8e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373740116	5.498e-06	6.156e-06	4.104e-06	6.905e-06	0.0002	2.37e-06	1.71e-06	3.86e-06	1.45e-06	3.008e-05	0	0	0	0	0.0002	2.7e-06	1.663e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.20154	T	0.637	0.07037	T	0.319	0.32965	B	0.043	0.24256	B	0.000158	0.49130	D	0.180712	0.994733	0.42395	D	-0.06	0.04898	N	4.01	0.03208	T	-0.15	0.09297	N	0.122	0.11340	-0.7286	0.59034	T	0.008	0.02801	T	10	0.10653618	0.19747	T	0.016925	0.38413	T	0.110	0.31079	.	.	0.263709349026	0.25991	0.4672426337566118	0.46643	0.198041994674	0.22181	0.625500142574	0.56507	T	0.052588	0.29203	T	-0.164049	0.26139	T	-0.473421	0.25149	T	0.267495668017856	0.23639	T	0.739426	0.35812	T	0.16673085	0.37027	0.23643543	0.48914	0.16673085	0.37027	0.23643543	0.48913	-6.216	0.48053	T	.	.	0.100	0.17232	B	.	.	3.596048	0.50772	23.0	0.99574708205314344	0.72621	0.70321	0.34542	D	AEFGBHCIJ	0.468836	0.51547	N	-0.178036271406517	0.34050	1.938911	0.013021885690457	0.40318	2.404278	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.95	4.95	0.64894	2.833000	0.47861	5.757000	0.49661	0.527000	0.24520	0.987000	0.36337	1.000000	0.68203	0.907000	0.44265	0.0:1.0:0.0:0.0	18.386	0.90411	219	0.91485	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	333.33	24	chr2	135876353	.	C	T	333.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.717;DP=632;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.94;ReadPosRankSum=0.1;SOR=0.538	GT:AD:DP:GQ:PL	0/1:33,15:48:99:347,0,890	18	0	1	0
chr2	140769243	140769243	A	T	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon35:c.T5728A:p.S1910T	.	434	1082	6	0	0	6	0.00276498	.	.	.	2446945	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.222	0.017206703545	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	8.41e-05	13	154602	rs200076285	7.533e-05	7.524e-05	6.133e-05	8.948e-05	0.0004	6.389e-05	5.945e-05	0.0003	0.0002	0	0	0.0018	0	0	0.0002	9.903e-06	0.0003	0.0004	6.577e-05	6.562e-05	6.436e-05	6.725e-05	0.0006	3.52e-05	2.619e-05	0.0002	9.003e-05	0	0	0	0.0017	0	0	0	1.473e-05	0	0.0006	0.214	0.19361	T	0.324	0.18903	T	0.044	0.21686	B	0.022	0.19653	B	0.004178	0.34034	N	0.200305	0.996478	0.23003	N	1.88	0.49984	L	-2.84	0.91305	D	-1.85	0.43334	N	0.455	0.49237	-0.3339	0.74020	T	0.608	0.86098	D	10	0.06331578	0.08231	T	0.017207	0.38815	T	0.222	0.51872	0.385	0.40460	0.388112687808	0.38423	0.5784417953319664	0.57773	0.228694491547	0.25423	0.576929986477	0.49652	T	0.226447	0.59147	T	-0.219794	0.18022	T	-0.253172	0.49503	T	0.0552499133299907	0.06400	T	0.79912	0.44420	T	0.13057686	0.30463	0.13066056	0.31392	0.13057686	0.30463	0.13066056	0.31391	-5.201	0.38952	T	.	.	0.089	0.11941	B	.	.	2.252754	0.28777	17.91	0.9731116892113777	0.33327	0.89094	0.49356	D	AEFI	0.322140	0.42472	N	-0.101347184413441	0.37333	2.170578	0.0496621307812151	0.42056	2.537123	6.61732739569857E-4	0.07575	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	5.59	4.42	0.52775	3.922000	0.56173	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8556:0.1444:0.0:0.0	12.528	0.55442	872	0.31118	.	.	.	.	.	.	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	2375.83	33	chr2	140769243	.	A	T	2375.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.764;DP=825;ExcessHet=0.119;FS=2.238;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=1.97;SOR=0.751	GT:AD:DP:GQ:PL	0/1:64,66:130:99:1536,0,1671	17	0	2	0
chr2	151680729	151680729	C	T	splicing	NEB	NM_001164507:exon30:c.3042+1G>A;NM_001271208:exon30:c.3042+1G>A;NM_004543:exon30:c.3042+1G>A;NM_001164508:exon30:c.3042+1G>A	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.938	YES	939850	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.936609	0.94117	33	0.99349119721063961	0.60493	0.97623	0.75973	D	AEFBI	.	.	.	1.19148709426811	0.99469	22.96786	1.05788045534202	0.99467	22.95182	0.999998626380482	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.989765	0.98485	5.82	5.82	0.92740	5.023000	0.63858	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.870	0.92282	863	0.32847	.;.;.;.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1057.71	33	chr2	151680729	.	C	T	1057.71	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-4.359;DP=1767;ExcessHet=2.0135;FS=112.907;InbreedingCoeff=-0.2011;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=1.16;SOR=10.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,37:204:99:0|1:151680729_C_T:105,0,5648:151680729	12	0	6	1
chr2	151812356	151812356	C	G	splicing	ARL5A	NM_001037174:exon4:c.228+1G>C;NM_012097:exon4:c.339+1G>C;NM_177985:exon4:c.228+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.782e-06	5.886e-05	4.157e-06	1.396e-06	3.642e-06	6.5e-07	4.4e-07	8.5e-07	5.8e-07	0	0	0	0	0	0	3.642e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439775	0.92012	D	0.39393	0.91914	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	7.231749	0.96294	35	0.99502293485953874	0.68089	0.99595	0.97811	D	AEFGBI	.	.	.	1.08373552501254	0.97822	16.83379	0.914098951252691	0.96157	14.36763	0.999999999922868	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.125526	0.03468	0	0.221052	0.04502	0	0.980099	0.85116	4.68	4.68	0.58319	7.892000	0.85858	.	.	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	17.586	0.87881	815	0.41851	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	46.88	18	chr2	151812356	.	C	G	46.88	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-1.325;DP=405;ExcessHet=0.4139;FS=246.399;InbreedingCoeff=-0.0268;MLEAC=2;MLEAF=0.067;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=0.371;SOR=7.378	GT:AD:DP:GQ:PL	0/1:25,7:39:1:1,0,373	12	0	3	4
chr2	168850945	168850945	T	C	exonic	NOSTRIN	.	nonsynonymous SNV	NOSTRIN:NM_001171631:exon13:c.T740C:p.L247P	.	432	1071	19	0	0	19	0.00879223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0035	0.0169728	0.0114	0.0019	0.0541	0.0745	0	0.0065	0.0105	0.0154	0.006106	944	154602	rs118103537	0.0069	0.0055	0.0066	0.0071	0.0387	0.0067	0.0067	0.0370	0.0362	0.0010	0.0322	0.0190	0.0387	7.987e-05	0.0115	0.0010	0.0082	0.0144	0.0048	0.0048	0.0041	0.0056	0.0544	0.0045	0.0044	0.0491	0.0471	0.0008	0	0.0129	0.0176	0.0544	0	0.0136	0.0011	0.0057	0.0143	0.0	0.91255	D	0.123	0.35582	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.13	0.38556	T	-0.12	0.08809	N	0.139	0.13769	-1.0418	0.16770	T	0.007	0.02321	T	9	0.00228104	0.00033	T	.	.	.	0.038	0.09825	.	.	.	.	0.42850621485408225	0.42767	0.161174285547	0.18189	.	.	.	.	.	.	-0.666002	0.00058	T	-0.681547	0.06889	T	0.0109697287305494	0.00158	T	0.344566	0.07542	T	.	.	.	.	.	.	.	.	-4.375	0.29216	T	.	.	0.134	0.28948	B	.;.	.;.	-0.681065	0.01365	0.077	0.68700796775879425	0.08739	0.01257	0.04415	N	AEFDBI	0.121754	0.23657	N	-1.27524182856208	0.03975	0.1786065	-1.36107588233821	0.03677	0.172013	0.99966287833631	0.41534	0.562547	0.31514	0	0.653731	0.59785	0	0.514364	0.09456	0	0.613276	0.41899	0	.	.	4.76	-5.19	0.02616	-2.553000	0.01002	-3.746000	0.02565	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.085000	0.17524	0.241:0.2769:0.0:0.4821	4.259	0.10183	768	0.49510	.;.	.	.	.	.	.	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	0.009544	0.000000	0.005618	0.000000	0.100000	0.008929	0.012270	0.026718	0.02632	2441.33	35	chr2	168850945	.	T	C	2441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=1771;ExcessHet=0;FS=10.683;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-0.13;SOR=1.391	GT:AD:DP:GQ:PL	0/1:86,90:176:99:2455,0,2169	18	0	1	0
chr2	169173147	169173147	C	T	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon57:c.G11092A:p.V3698M	Donnai-Barrow syndrome, Autosomal recessive	0	1484	37	1	0	39	0.0129697	.	.	.	134938	not_provided|Donnai-Barrow_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.428	.	0.0057	0.00379393	0.0055	0.0013	0.0050	0	0.0062	0.0070	0.0077	0.0048	0.0053039	820	154602	rs34355135	0.0059	0.0059	0.0058	0.0060	0.0146	0.0058	0.0058	0.0121	0.0111	0.0014	0.0072	0.0054	2.519e-05	0.0079	0.0146	0.0062	0.0055	0.0045	0.0056	0.0056	0.0056	0.0056	0.0088	0.0053	0.0052	0.0076	0.0071	0.0010	0	0.0088	0.0086	0.0004	0.0078	0.0136	0.0077	0.0095	0.0033	0.124	0.27426	T	0.004	0.74150	D	0.607	0.39488	P	0.145	0.33871	B	0.000316	0.45977	N	0.187206	0.999972	0.53665	D	1.845	0.48678	L	-3.93	0.96111	D	-0.76	0.21215	N	0.254	0.28732	0.063	0.83487	D	0.724	0.90550	D	10	0.016275853	0.00343	T	.	.	.	0.428	0.73517	.	.	0.447959960469	0.44417	0.4909127697783522	0.49011	0.296777690307	0.32065	0.279854148626	0.07472	T	0.239095	0.60714	T	-0.301991	0.08472	T	-0.200027	0.54644	T	0.00806051794869114	0.00096	T	0.131687	0.01039	T	0.035712652	0.04255	0.064438894	0.12916	0.029464262	0.02445	0.064438894	0.12916	-6.947	0.53646	T	0.3203382336483285	0.41847	0.130	0.27880	B	.;.	.;.	0.786667	0.11567	8.162	0.89657563839000531	0.18986	0.66020	0.32934	D	AEFBI	0.187087	0.31438	N	-0.581812183638063	0.19498	1.020897	-0.703857200929259	0.16864	0.8941455	0.890710157411384	0.25842	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.59	-0.879	0.10076	1.303000	0.33075	-0.890000	0.07031	-0.828000	0.02899	0.592000	0.27682	0.000000	0.08366	0.710000	0.34452	0.1079:0.5032:0.209:0.1798	3.473	0.07141	884	0.28482	.;.	.	.	.	.	.	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	0.010574	0.015152	0.008152	0.002924	0.000000	0.008621	0.018293	0.003788	0.02632	1625.33	36	chr2	169173147	.	C	T	1625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=846;ExcessHet=0;FS=3.14;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-0.329;SOR=0.853	GT:AD:DP:GQ:PL	0/1:66,62:128:99:1639,0,1545	18	0	1	0
chr2	178324247	178324247	C	T	exonic	OSBPL6	.	nonsynonymous SNV	OSBPL6:NM_145739:exon2:c.C110T:p.P37L,OSBPL6:NM_001201480:exon4:c.C173T:p.P58L,OSBPL6:NM_001201481:exon4:c.C173T:p.P58L,OSBPL6:NM_001201482:exon4:c.C173T:p.P58L,OSBPL6:NM_032523:exon4:c.C173T:p.P58L	.	430	1056	34	2	0	38	0.0176744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0019	0.00698882	0.0087	0.0007	0.0021	0.0003	0	0.0045	0.0073	0.0305	0.0042884	663	154602	rs34874235	0.0037	0.0038	0.0031	0.0043	0.0243	0.0036	0.0036	0.0235	0.0231	0.0005	0.0012	0.0001	7.729e-05	5.868e-05	0.0097	0.0027	0.0037	0.0243	0.0023	0.0023	0.0022	0.0025	0.0247	0.0021	0.0021	0.0211	0.0197	0.0006	0	0.0012	0.0003	0.0002	0.0003	0	0.0027	0.0028	0.0247	0.022	0.65419	D	0.184	0.47336	T	0.065	0.29693	B	0.032	0.22741	B	0.136896	0.18431	N	0.560099	0.982406	0.40094	D	0	0.06538	N	1.25	0.36512	T	-1.14	0.38734	N	0.302	0.35194	-1.0895	0.05616	T	0.061	0.25635	T	10	0.0038985908	0.00074	T	.	.	.	0.025	0.05312	.	.	0.0675242888579	0.06100	0.2651952141909519	0.26432	0.343719139583	0.36299	0.414854466915	0.27127	T	0.013066	0.11369	T	-0.501483	0.00561	T	-0.474868	0.24994	T	0.00769843631727962	0.00090	T	0.957104	0.83854	D	0.07133131	0.15784	0.062420767	0.12208	0.07133131	0.15783	0.062420767	0.12208	-4.84	0.36655	T	.	.	0.071	0.11172	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.386064	0.46858	22.4	0.99623548177428622	0.75594	0.55822	0.29961	D	AEFDBI	0.084559	0.17137	N	-0.0939410315234078	0.37659	2.194098	0.0889973802018762	0.43994	2.689787	0.998386936897328	0.36869	0.615465	0.37627	0	0.563428	0.19063	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.9	4.97	0.65419	1.533000	0.35645	.	.	0.599000	0.40250	0.891000	0.31220	1.000000	0.68203	0.711000	0.34484	0.2265:0.6504:0.1231:0.0	10.481	0.43878	322	0.86904	.;.;.;.;.;.;.	.	.	.	.	.	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	0.014602	0.000000	0.006793	0.011696	0.000000	0.000000	0.015244	0.045455	0.02632	842.33	33	chr2	178324247	.	C	T	842.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=706;ExcessHet=0;FS=1.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=-0.353;SOR=0.548	GT:AD:DP:GQ:PL	0/1:26,31:57:99:856,0,590	18	0	1	0
chr2	178559871	178559871	A	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.T59066G:p.F19689C,TTN:NM_133432:exon155:c.T59441G:p.F19814C,TTN:NM_133437:exon155:c.T59642G:p.F19881C,TTN:NM_133378:exon275:c.T78557G:p.F26186C,TTN:NM_001256850:exon276:c.T81338G:p.F27113C,TTN:NM_001267550:exon326:c.T86261G:p.F28754C	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.0566008861111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	.	.	.	0.994	0.66517	D	0.707	0.54387	P	.	.	.	.	1	0.81001	D	3.375	0.91388	M	-0.09	0.64086	T	-5.51	0.88630	D	0.551	0.84922	-0.0866	0.80404	T	0.435	0.77529	T	9	0.47143626	0.59886	T	0.056601	0.66665	D	0.496	0.78100	0.375	0.38830	0.773553141154	0.77147	.	.	0.429354364312	0.43229	0.655157208443	0.60718	T	.	.	.	0.161915	0.70378	D	-0.005197	0.69998	D	0.584034323692322	0.35774	D	0.933007	0.74900	D	.	.	.	.	.	.	.	.	-8.051	0.61417	D	.	.	0.686	0.72380	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.112481	0.41986	21.5	0.89159858402702086	0.18561	0.99258	0.93561	D	AEFDBI	0.950219	0.96363	D	0.84702394240749	0.88939	9.770615	0.846291154186519	0.92798	11.63787	0.99999995780585	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.54472	0.12158	0	0.613276	0.41899	0	.	.	5.87	5.87	0.94266	9.268000	0.94851	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.576	0.84532	460	0.78750	.;.;Immunoglobulin-like domain;Immunoglobulin-like domain;.;Immunoglobulin-like domain;Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1885.33	36	chr2	178559871	.	A	C	1885.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.728;DP=917;ExcessHet=0;FS=5.842;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-2.461;SOR=0.478	GT:AD:DP:GQ:PL	0/1:85,72:157:99:1899,0,2548	18	0	1	0
chr2	178652878	178652878	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001267550:exon200:c.C38929T:p.P12977S	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	5	1460	53	4	0	61	0.0204629	.	.	.	238500	not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy	MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0049	0.00638978	0.0065	0.0014	0.0013	0.0001	0.0011	0.0055	0.0057	0.0225	0.0058925	911	154602	rs150223722	0.0064	0.0064	0.0059	0.0069	0.0232	0.0063	0.0062	0.0224	0.0220	0.0010	0.0020	0.0002	5.043e-05	0.0013	0.0106	0.0061	0.0056	0.0232	0.0039	0.0040	0.0040	0.0039	0.0207	0.0037	0.0036	0.0175	0.0162	0.0010	0	0.0024	0.0003	0	0.0017	0.0034	0.0058	0.0047	0.0207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.31	0.68030	T	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.00516212	0.00112	T	.	.	.	.	.	.	.	0.838613394838	0.83707	.	.	.	.	.	.	.	.	.	.	-0.52601	0.00406	T	-0.510768	0.21237	T	.	.	.	0.728227	0.34274	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.772844	0.22541	15.66	0.56665513275893198	0.05601	0.18245	0.20180	N	AEFBI	0.157657	0.28320	N	.	.	.	.	.	.	0.0286487783079109	0.13843	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	4.83	3.93	0.44666	0.120000	0.15476	.	.	0.654000	0.53741	0.008000	0.17931	0.009000	0.19889	0.150000	0.20306	0.0:0.1335:0.6663:0.2002	9.634	0.38960	441	0.80015	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1425.33	33	chr2	178652878	.	G	A	1425.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.048;DP=751;ExcessHet=0;FS=1.507;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.97;MQRankSum=1.04;QD=12.96;ReadPosRankSum=0.556;SOR=0.558	GT:AD:DP:GQ:PL	0/1:54,56:110:99:1439,0,1432	18	0	1	0
chr2	184938136	184938136	C	T	exonic	ZNF804A	.	nonsynonymous SNV	ZNF804A:NM_194250:exon4:c.C2740T:p.P914S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00673362327205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.05183	T	0.574	0.09457	T	0.004	0.12183	B	0.003	0.08700	B	0.109549	0.19480	N	0.478541	1	0.08975	N	1.525	0.38595	L	3.51	0.04959	T	0.14	0.05405	N	0.03	0.00717	-0.9365	0.43164	T	0.010	0.03537	T	10	0.04475823	0.03469	T	0.006734	0.17784	T	0.014	0.01968	0.11	0.02049	0.043077524339	0.03247	0.0698540818434061	0.06923	0.0408902475237	0.04386	0.199956983328	0.00455	T	0.001953	0.01974	T	-0.336386	0.05642	T	-0.720972	0.04749	T	0.0425404077469503	0.04154	T	0.586341	0.21412	T	0.058596496	0.11808	0.043295868	0.05356	0.058596496	0.11808	0.043295868	0.05356	-1.731	0.02312	T	.	.	0.073	0.04640	B	.;.	.;.	-0.299201	0.02620	0.328	0.14121060946965622	0.00301	0.02231	0.06481	N	AEFDBI	0.035270	0.04511	N	-0.971839317562574	0.09208	0.4348858	-0.964992722237471	0.10577	0.5336033	0.00110585530623819	0.08228	0.638212	0.43195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.57	0.828	0.17978	0.310000	0.19112	-0.451000	0.09099	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.105000	0.18517	0.0:0.3382:0.3951:0.2666	3.885	0.08599	884	0.28482	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2352.33	109	chr2	184938136	.	C	T	2352.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.653;DP=1598;ExcessHet=0;FS=9.742;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.624;SOR=0.737	GT:AD:DP:GQ:PL	0/1:100,85:185:99:2366,0,2851	18	0	1	0
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Uncertain significance	1	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	.	.	.	.	.	.	.	.	0.3235	1518.25	38	chr2	186504215	.	G	C	1518.25	.	AC=11;AF=0.324;AN=34;BaseQRankSum=1.56;DP=1053;ExcessHet=18.7922;FS=99.238;InbreedingCoeff=-0.634;MLEAC=12;MLEAF=0.353;MQ=60;MQRankSum=0;QD=2.4;ReadPosRankSum=1.93;SOR=10.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,22:58:96:.:.:96,0,361:.	6	0	11	2
chr2	189057318	189057318	A	C	splicing	COL5A2	NM_000393:exon34:c.2337+2T>G	.	.	Ehlers-Danlos syndrome, classic type, Autosomal dominant	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.502e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.805e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.611489	0.92537	32	0.99483564550460934	0.67014	0.99218	0.92973	D	AEFBI	.	.	.	1.15119548577923	0.98974	20.10665	1.01036033718981	0.98817	19.48842	0.999999999925718	0.74766	0.163922	0.03765	0	0.084543	0.02171	0	0.078618	0.02440	0	0.24341	0.04801	0	0.979619	0.84361	5.92	5.92	0.95557	9.325000	0.96006	11.291000	0.92027	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.919000	0.45453	1.0:0.0:0.0:0.0	16.359	0.83084	836	0.38045	.;.;.	.	.	.	.	.	Uncertain significance	1	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	.	.	.	.	.	.	.	.	0.0625	40.5	32	chr2	189057318	.	A	C	40.5	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-1.631;DP=837;ExcessHet=0.119;FS=125.926;InbreedingCoeff=-0.1093;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=2.27;SOR=7.614	GT:AD:DP:GQ:PL	0/1:45,10:55:34:34,0,942	14	0	2	3
chr2	195957431	195957431	G	C	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon19:c.C2908G:p.L970V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.718	0.0354250403492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.89	0.96051	H	-0.98	0.75789	T	-2.96	0.61722	D	0.762	0.76019	0.689	0.93040	D	0.723	0.90499	D	10	0.8551353	0.84706	D	0.035425	0.56337	D	0.718	0.90011	0.739	0.87147	0.647723231329	0.64480	0.6184058468727619	0.61773	0.233966516908	0.25932	0.637360215187	0.58189	T	0.485629	0.81245	T	0.199181	0.73815	D	0.0483327	0.73473	D	0.998911142349243	0.95567	D	0.964404	0.86792	D	0.8768079	0.89406	0.840113	0.90846	0.8768079	0.89408	0.840113	0.90846	-10.839	0.78767	D	.	.	0.357	0.57009	A	.	.	4.270642	0.64981	24.8	0.99812925561404175	0.89620	0.98399	0.82379	D	AEFI	0.750030	0.69127	D	0.996059619830168	0.95622	13.79827	0.895641809660521	0.95380	13.56694	0.98513376549831	0.30834	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	4.325000	0.59022	8.556000	0.77547	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0735:0.0:0.9265:0.0	13.087	0.58562	923	0.18507	Dynein heavy chain, domain-2	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	222.33	33	chr2	195957431	.	G	C	222.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.039;DP=614;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.41;ReadPosRankSum=-1.76;SOR=0.283	GT:AD:DP:GQ:PL	0/1:22,8:30:99:236,0,773	18	0	1	0
chr2	196319673	196319673	G	A	exonic	HECW2	.	nonsynonymous SNV	HECW2:NM_001304840:exon7:c.C149T:p.T50I,HECW2:NM_001348768:exon9:c.C1217T:p.T406I,HECW2:NM_020760:exon9:c.C1217T:p.T406I	Neurodevelopmental disorder with hypotonia, seizures, and absent language, Autosomal dominant	422	1097	3	0	0	3	0.0013655	.	.	.	758755	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.036	0.00531743535389	0.0002	0.000399361	0.0004	0.0003	0.0029	0	0	8.991e-05	0.0011	6.056e-05	0.0003234	50	154602	rs146190713	0.0001	0.0001	0.0001	0.0001	0.0016	9.94e-05	9.348e-05	0.0013	0.0012	0	0.0016	0.0003	0	0	0.0009	5.216e-05	0.0003	5.797e-05	0.0002	0.0002	0.0002	0.0001	0.0007	0.0001	8.712e-05	0.0004	0.0003	7.216e-05	0	0.0007	0	0	0	0.0034	0.0001	0	0	0.143	0.25355	T	0.183	0.29153	T	0.09	0.25173	B	0.05	0.25278	B	0.147425	0.02935	N	1.559630	0.99861	0.22043	N	0	0.06538	N	1.55	0.29866	T	-0.73	0.20576	N	0.188	0.20528	-0.9829	0.34328	T	0.054	0.22921	T	10	0.010553092	0.00234	T	0.005317	0.13618	T	0.036	0.09122	.	.	0.189391138174	0.18552	0.19328460737389871	0.19246	0.328415424313	0.34954	0.408473283052	0.26245	T	0.027871	0.20317	T	-0.508962	0.00509	T	-0.544398	0.17867	T	0.013516544659252	0.00248	T	0.717528	0.33029	T	0.03895558	0.05288	0.053285174	0.08947	0.043903466	0.06924	0.06548365	0.13277	-4.749	0.33991	T	0.14176157587571106	0.15976	0.137	0.29887	B	.;.;.;.	.;.;.;.	2.524881	0.32633	19.10	0.98924430546576803	0.48620	0.91077	0.52814	D	AEFBI	0.282769	0.39603	N	-0.434979539422903	0.24253	1.308204	-0.266593429998096	0.29205	1.634447	0.995363332345679	0.34087	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.64	3.78	0.42629	2.289000	0.43184	4.403000	0.43254	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.691000	0.33868	0.0:0.0:0.7015:0.2985	13.241	0.59424	803	0.44167	.;.;.;.	.	.	.	.	.	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	0	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1477.33	43	chr2	196319673	.	G	A	1477.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.015;DP=808;ExcessHet=0;FS=5.779;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.141;SOR=0.61	GT:AD:DP:GQ:PL	0/1:60,56:116:99:1491,0,1620	18	0	1	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P,HSPE1-MOB4:NM_001202485:exon3:c.T193C:p.S65P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	5666.6	35	chr2	197523648	.	T	C	5666.6	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.356;DP=1595;ExcessHet=31.086;FS=383.252;InbreedingCoeff=-0.8661;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=0.863;SOR=12.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,41:101:99:.:.:358,0,929:.	1	0	17	1
chr2	199349123	199349123	G	A	exonic	SATB2	.	nonsynonymous SNV	SATB2:NM_001172509:exon7:c.C751T:p.R251C,SATB2:NM_001172517:exon8:c.C751T:p.R251C,SATB2:NM_015265:exon8:c.C751T:p.R251C	Glass syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3762634	not_specified|Chromosome_2q32-q33_deletion_syndrome	MedGen:CN169374|MONDO:MONDO:0012864,MedGen:C2676739,OMIM:612313,Orphanet:251019	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.251	0.0155528169832	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239435557	3.421e-06	3.42e-06	4.084e-06	2.75e-06	4.474e-05	1e-06	7.3e-07	7.42e-06	2.77e-06	0	4.474e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.089	0.45961	T	1.0	0.90584	D	0.927	0.66185	D	0.000290	0.46274	D	0.143132	0.999922	0.58761	D	1.59	0.40313	L	0.83	0.47815	T	-2.73	0.58085	D	0.397	0.54932	-0.8337	0.53061	T	0.142	0.46275	T	10	0.27505755	0.45062	T	0.015553	0.36344	T	0.251	0.56024	0.318	0.29581	0.423782897388	0.41995	0.4226032196182818	0.42177	1.40020819914	0.85182	0.819907188416	0.85013	D	0.609415	0.87599	D	-0.0566984	0.43423	T	-0.143373	0.59825	T	0.870425939559937	0.52034	D	0.956904	0.83579	D	0.22747228	0.45448	0.17731631	0.40325	0.22747228	0.45448	0.17731631	0.40324	-4.949	0.36281	T	0.2332475592117161	0.31573	0.238	0.56357	B	.;.;.;.;.;.	.;.;.;.;.;.	5.605664	0.92493	32	0.99937819037483189	0.99698	0.98952	0.89087	D	AEFDBIJ	0.771657	0.70622	D	0.300474934812333	0.56173	3.781706	0.450863348283543	0.64771	4.740265	0.999996944624734	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.47	5.47	0.80345	6.621000	0.74096	11.883000	0.98886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8535:0.1465	14.525	0.67467	807	0.43470	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1232.33	35	chr2	199349123	.	G	A	1232.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.113;DP=696;ExcessHet=0;FS=5.68;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-0.272;SOR=0.305	GT:AD:DP:GQ:PL	0/1:41,45:86:99:1246,0,1067	18	0	1	0
chr2	203145115	203145115	G	A	exonic	NBEAL1	.	nonsynonymous SNV	NBEAL1:NM_001114132:exon32:c.G5172A:p.M1724I,NBEAL1:NM_001378026:exon33:c.G5259A:p.M1753I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00722304138311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.09374	T	0.521	0.10429	T	0.001	0.07471	B	0.002	0.06944	B	0.000000	0.84330	D	0.044196	0.998235	0.44662	D	0.975	0.24501	L	0.67	0.52187	T	-1.31	0.32791	N	0.436	0.47487	-1.0382	0.17863	T	0.121	0.42036	T	10	0.17471391	0.32365	T	0.007223	0.19143	T	0.073	0.21317	0.429	0.47680	0.292423486923	0.28857	0.31767818265751385	0.31680	0.120949254395	0.13625	0.605539798737	0.53686	T	0.135548	0.46742	T	-0.139427	0.29982	T	-0.438054	0.29026	T	0.427384704351425	0.29964	T	0.832417	0.50060	T	0.29544353	0.52493	0.18352155	0.41346	0.29544353	0.52493	0.18352155	0.41345	-3.201	0.12493	T	.	.	0.499	0.64559	A	.	.	3.222741	0.43917	21.8	0.96159419130363266	0.28893	0.92146	0.55047	D	AEFBI	0.282735	0.39600	N	-0.0193030038630184	0.40981	2.443312	0.165392126195975	0.47964	3.018846	0.00109112677381813	0.08217	0.651	0.46895	0	0.588066	0.40923	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.49	5.49	0.81022	2.105000	0.41449	11.745000	0.95278	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.1371:0.8629:0.0	15.697	0.77267	313	0.87327	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1636.33	36	chr2	203145115	.	G	A	1636.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.379;DP=740;ExcessHet=0;FS=1.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.162;SOR=0.783	GT:AD:DP:GQ:PL	0/1:53,68:121:99:1650,0,1273	18	0	1	0
chr2	205440578	205440578	C	T	exonic	PARD3B	.	nonsynonymous SNV	PARD3B:NM_057177:exon19:c.C2743T:p.R915W,PARD3B:NM_152526:exon19:c.C2764T:p.R922W,PARD3B:NM_001302769:exon20:c.C2950T:p.R984W	.	.	.	.	.	.	.	.	.	.	.	2400153	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.073	0.0386111732267	0.0002	0.000199681	0.0001	0	0	0	0.0006	0.0001	0	6.058e-05	9.7e-05	15	154602	rs199699507	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	4.472e-05	0	2.52e-05	0.0002	0	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0.0006	8.663e-05	7.255e-05	0.0002	9.011e-05	4.814e-05	0	6.537e-05	0	0	0.0002	0	0.0002	0	0.0006	0.031	0.49613	D	0.003	0.76473	D	0.004	0.12183	B	0.0	0.08700	B	0.001173	0.39978	N	0.097227	0.888435	0.81001	D	2.35	0.67516	M	2.59	0.15843	T	-2.21	0.49684	N	0.32	0.41459	-1.1449	0.01185	T	0.071	0.28871	T	10	0.052745968	0.05357	T	0.038611	0.58323	D	0.073	0.21317	.	.	0.520535218364	0.51697	0.14491364225601164	0.14414	0.0227694806356	0.02300	0.487342149019	0.37071	T	0.011674	0.10383	T	-0.336757	0.05616	T	-0.429356	0.30008	T	0.0578938966790491	0.06833	T	0.839416	0.51368	T	0.06373714	0.13451	0.06157522	0.11913	0.06373714	0.13450	0.06157522	0.11912	-6.762	0.52276	T	.	.	0.132	0.33619	B	.;.;.;.;.	.;.;.;.;.	3.464859	0.48308	22.6	0.98419192404310218	0.41266	0.61280	0.31439	D	AEFBCI	0.370276	0.45671	N	-0.280210118558179	0.29914	1.663112	-0.236586020961861	0.30236	1.700696	0.135236847876762	0.17169	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.34	2.48	0.29194	0.783000	0.26463	1.182000	0.24703	-0.249000	0.07183	0.642000	0.28102	0.916000	0.28226	0.884000	0.42379	0.3656:0.568:0.0:0.0664	9.166	0.36216	768	0.49510	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1719.33	33	chr2	205440578	.	C	T	1719.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=773;ExcessHet=0;FS=0.696;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.415;SOR=0.588	GT:AD:DP:GQ:PL	0/1:62,63:125:99:1733,0,1459	18	0	1	0
chr2	218752800	218752800	A	G	exonic	TTLL4	.	nonsynonymous SNV	TTLL4:NM_014640:exon17:c.A3014G:p.D1005G	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	.	0.0034	0.000998403	0.0048	0.0011	0.0012	0	0.0275	0.0054	0.0088	0.0004	0.0045084	697	154602	rs116116034	0.0047	0.0047	0.0048	0.0046	0.0048	0.0046	0.0046	0.0047	0.0046	0.0007	0.0012	0	2.519e-05	0.0245	0.0003	0.0048	0.0030	0.0003	0.0049	0.0049	0.0035	0.0064	0.0052	0.0046	0.0045	0.0048	0.0046	0.0010	0.0110	0.0014	0	0	0.0299	0	0.0052	0.0028	0	0.01	0.58626	D	0.039	0.53072	D	0.996	0.68779	D	0.905	0.64260	P	0.000658	0.42656	D	0.234860	1	0.81001	D	3.185	0.88900	M	3.79	0.04267	T	-5.83	0.90729	D	0.51	0.56748	-0.4195	0.71409	T	0.295	0.66650	T	10	0.009419471	0.00213	T	.	.	.	0.183	0.45592	.	.	0.48748946032	0.48381	0.661158519121343	0.66052	0.323622915882	0.34524	0.475717514753	0.35468	T	0.030686	0.45582	T	-0.357973	0.04245	T	-0.284645	0.46326	T	0.079053227678991	0.09865	T	0.921108	0.71398	D	0.52064085	0.68296	0.634132	0.78646	0.52064085	0.68297	0.634132	0.78647	-9.303	0.69626	D	.	.	0.185	0.58651	B	.;.;.;.	.;.;.;.	4.618300	0.73312	26.0	0.99809938586311242	0.89353	0.99510	0.96896	D	AEFBI	0.784015	0.71482	D	0.475956575064487	0.65688	4.854235	0.531112233723282	0.70093	5.454933	0.9999997172103	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	6.783000	0.74853	8.047000	0.76340	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.736	0.69031	831	0.39019	.;.;.;.	.	.	.	.	rs116116034	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	.	.	.	.	.	.	.	.	0.02632	1344.33	34	chr2	218752800	.	A	G	1344.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.124;DP=744;ExcessHet=0;FS=0.72;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.096;SOR=0.835	GT:AD:DP:GQ:PL	0/1:54,56:110:99:1358,0,1405	18	0	1	0
chr2	227330847	227330847	-	AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT	splicing	MFF	NM_001277062:exon3:c.181+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT;NM_001277061:exon4:c.259+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT;NM_001277063:exon3:c.181+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT;NM_001277066:exon2:c.181+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT;NM_001277065:exon3:c.181+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT;NM_001277064:exon3:c.181+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT;NM_020194:exon4:c.259+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT;NM_001277068:exon2:c.181+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT;NM_001277067:exon3:c.31+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT	.	.	Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Autosomal recessive	429	1076	16	0	1	17	0.00738007	.	.	.	1919999	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0019	0	0	0	0.0002	0	0.0002	3.84e-05	1	26028	.	0.0001	0.0003	0.0001	0.0001	0.0007	0.0001	0.0001	0.0004	0.0004	0.0007	8.953e-05	0.0003	0.0002	0.0001	0.0002	9.738e-05	0.0002	0.0003	8.577e-05	0.0006	7.749e-05	9.442e-05	0.0001	4.977e-05	3.978e-05	4.765e-05	3.07e-05	0.0001	0	6.551e-05	0.0003	0	9.466e-05	0	7.371e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	700.79	41	chr2	227330847	.	G	GAAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT	700.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.84;DP=1333;ExcessHet=0.119;FS=11.381;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.71;MQRankSum=-10.44;QD=1.18;ReadPosRankSum=-3.93;SOR=2.07	GT:AD:DP:GQ:PL	0/1:298,31:329:99:370,0,12356	17	0	2	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	7129.64	35	chr2	232847517	.	A	*	7129.64	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-0.589;DP=2245;ExcessHet=1.0106;FS=0.551;InbreedingCoeff=0.0526;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=0.451;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:7043,497,0:.	6	3	10	0
chr2	237344941	237344941	C	T	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon32:c.G5353A:p.G1785R,COL6A3:NM_057167:exon34:c.G6556A:p.G2186R,COL6A3:NM_004369:exon35:c.G7174A:p.G2392R	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	0.4886	0.522	YES	269717	not_provided|Bethlem_myopathy_1A	MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.813	0.679182776197	.	.	7.457e-05	0.0003	0.0002	0	0	6.028e-05	0	0	6.47e-05	10	154602	rs773673162	5.815e-05	5.814e-05	5.037e-05	6.6e-05	0.0002	4.81e-05	4.431e-05	0.0001	7.816e-05	0.0002	0.0002	0	0	0	0	5.845e-05	4.967e-05	1.159e-05	9.867e-05	9.853e-05	0.0001	8.081e-05	0.0002	6.013e-05	4.885e-05	0.0001	9.949e-05	0.0002	0	0.0001	0	0	0	0	4.411e-05	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000106	0.50451	D	0.000000	1	0.81001	D	0.6	0.15550	N	-4.29	0.97149	D	-3.87	0.75220	D	0.797	0.79310	1.076	0.98750	D	0.945	0.98211	D	9	0.8499272	0.84167	D	0.679183	0.97339	D	0.813	0.93969	0.57	0.69299	0.932136169751	0.93144	0.634276261768967	0.63361	0.177680901241	0.19995	0.780408263206	0.78989	T	0.265247	0.63710	T	0.210166	0.74845	D	0.418146	0.92683	D	0.172686998090842	0.18761	T	0.933707	0.75920	D	0.49590546	0.66854	0.49405447	0.70737	0.49590546	0.66854	0.49405447	0.70737	-9.525	0.71014	D	.	.	0.868	0.80740	P	.;.;.;.	.;.;.;.	8.029574	0.97104	37	0.89185565319530047	0.18582	0.99619	0.98049	D	AEFDBI	0.957460	0.97665	D	0.696947311165814	0.79430	7.076	0.616480760080949	0.76134	6.43577	0.999999999999975	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	5.22	0.72285	7.242000	0.77660	7.588000	0.61163	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.580000	0.30894	0.0:1.0:0.0:0.0	16.977	0.86188	955	0.09969	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1799.33	41	chr2	237344941	.	C	T	1799.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=807;ExcessHet=0;FS=0.643;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.751;SOR=0.767	GT:AD:DP:GQ:PL	0/1:68,64:132:99:1813,0,1861	18	0	1	0
chr2	237827434	237827434	C	A	exonic	RBM44	.	nonsynonymous SNV	RBM44:NM_001080504:exon12:c.C2531A:p.A844D	.	460	1055	7	0	0	7	0.00330657	0.9908	0.858	.	2283847	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.153	0.00742423257258	0.0011	0.000998403	0.0018	0.0004	0.0022	0	0	0.0028	0	0.0015	0.0005886	91	154602	rs199634505	0.0011	0.0012	0.0010	0.0012	0.0054	0.0011	0.0011	0.0039	0.0034	0.0004	0.0007	0.0042	0	6.086e-05	0.0054	0.0011	0.0013	0.0014	0.0010	0.0010	0.0011	0.0009	0.0018	0.0009	0.0008	0.0013	0.0011	0.0001	0	0.0018	0.0032	0	0	0.0034	0.0014	0.0019	0.0017	0.033	0.44358	D	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	0.716896	0.33576	D	.	.	.	2.51	0.14284	T	-2.91	0.60982	D	0.284	0.39052	-1.0230	0.22736	T	0.046	0.19839	T	9	0.010333866	0.00230	T	0.007424	0.19685	T	0.153	0.40148	.	.	0.305410167561	0.30157	0.5779593409105788	0.57724	0.19089632529	0.21403	0.451999336481	0.32217	T	.	.	.	-0.483458	0.00706	T	-0.48046	0.24398	T	0.0334966674879988	0.02553	T	0.653735	0.26383	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.31151	B	.;.;.	.;.;.	2.934224	0.38996	20.9	0.9975662005486694	0.84694	0.71453	0.35019	D	AEFI	0.292295	0.40320	N	0.393846983267477	0.61088	4.305345	0.447652619518583	0.64565	4.714702	0.216836057064981	0.18307	0.553676	0.25195	0	0.588066	0.40923	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.6	5.6	0.84997	0.032000	0.13620	1.806000	0.28922	0.549000	0.26987	0.985000	0.35982	1.000000	0.68203	0.988000	0.63387	0.0:0.8361:0.1639:0.0	12.831	0.57128	982	0.03397	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RBM44, RNA recognition motif;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RBM44, RNA recognition motif;.	.	.	.	.	.	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	0.010983	0.015306	0.017143	0.005988	0.000000	0.008772	0.006250	0.004065	0.02632	564.33	33	chr2	237827434	.	C	A	564.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.091;DP=678;ExcessHet=0;FS=1.147;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-1.314;SOR=1.038	GT:AD:DP:GQ:PL	0/1:33,21:54:99:578,0,936	18	0	1	0
chr2	241209381	241209381	G	A	exonic	ANO7	.	nonsynonymous SNV	ANO7:NM_001370694:exon12:c.G1174A:p.A392T	.	.	.	.	.	.	.	.	.	.	.	4027975	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.173	0.00894954701749	.	.	0.0001	0.0003	0.0017	0	0	0	0	0	3.23e-05	5	154602	rs759669755	9.096e-05	9.508e-05	7.906e-05	0.0001	0.0005	7.795e-05	7.33e-05	0.0003	0.0003	3.058e-05	0.0005	0	0.0003	1.996e-05	0	6.931e-05	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0004	7.575e-05	6.28e-05	8.873e-05	5.587e-05	0.0002	0	0.0003	0	0.0004	0	0	5.878e-05	0	0.0002	0.042	0.41637	D	0.166	0.32783	T	0.21	0.29968	B	0.141	0.33616	B	0.351907	0.13802	N	0.642064	0.985073	0.24743	N	2.395	0.69210	M	-0.27	0.67367	T	-2.85	0.60029	D	0.432	0.49511	-0.7100	0.59952	T	0.293	0.66489	T	10	0.03400594	0.01594	T	0.00895	0.23583	T	0.173	0.43840	.	.	0.178374595973	0.17440	0.5662456989960888	0.56552	0.184314391142	0.20729	0.58602565527	0.50935	T	0.140649	0.47530	T	-0.389507	0.02710	T	-0.458884	0.26722	T	0.0693778899835401	0.08564	T	0.855714	0.54342	D	0.14770006	0.33752	0.23070215	0.48181	0.14770006	0.33752	0.23070215	0.48180	-7.278	0.56593	T	.	.	0.113	0.22135	B	.;.	.;.	1.845774	0.23451	16.02	0.96956346443551367	0.31759	0.15612	0.18997	N	AEFDBHCI	0.074074	0.14836	N	-0.789808604819024	0.13575	0.6697321	-0.888400858211384	0.12368	0.6358122	0.999996985067913	0.74766	0.514905	0.20481	0	0.573888	0.26702	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	3.36	2.48	0.29194	0.812000	0.26869	0.036000	0.13800	0.505000	0.23025	0.032000	0.20554	0.000000	0.08366	0.779000	0.36868	0.1104:0.0:0.8896:0.0	9.615	0.38850	994	0.00715	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1491.33	35	chr2	241209381	.	G	A	1491.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=752;ExcessHet=0;FS=0.736;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-1.299;SOR=0.79	GT:AD:DP:GQ:PL	0/1:51,54:105:99:1505,0,1238	18	0	1	0
chr3	9944565	9944565	A	G	exonic	CRELD1	.	nonsynonymous SNV	CRELD1:NM_001374320:exon9:c.A1165G:p.I389V,CRELD1:NM_001374319:exon10:c.A1165G:p.I389V,CRELD1:NM_015513:exon10:c.A1249G:p.I417V,CRELD1:NM_001077415:exon11:c.A1249G:p.I417V,CRELD1:NM_001374316:exon11:c.A1249G:p.I417V	Atrioventricular septal defect, partial, with heterotaxy syndrome, Autosomal dominant	2	1496	24	0	0	24	0.00795756	.	.	.	1275042	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.086	0.0282874559487	0.0019	0.00179712	0.0027	0.0003	0.0006	0.0001	0.0021	0.0030	0.0039	0.0054	0.0022703	351	154602	rs115361983	0.0023	0.0023	0.0021	0.0024	0.0050	0.0022	0.0022	0.0046	0.0044	0.0004	0.0010	0.0042	5.04e-05	0.0021	0.0043	0.0022	0.0027	0.0050	0.0016	0.0016	0.0016	0.0015	0.0046	0.0014	0.0013	0.0031	0.0026	0.0007	0	0.0010	0.0055	0	0.0008	0	0.0021	0.0014	0.0046	0.027	0.46513	D	0.044	0.49663	D	0.493	0.37004	P	0.155	0.34417	B	.	.	.	.	0.612953	0.81001	D	0.55	0.14455	N	0.17	0.60485	T	-0.09	0.08340	N	0.202	0.24634	-1.0016	0.29459	T	0.106	0.38611	T	8	0.008063853	0.00183	T	0.028287	0.50986	D	0.086	0.25016	.	.	0.498387242485	0.49473	.	.	.	.	.	.	.	0.002587	0.01974	T	-0.426495	0.01557	T	-0.384178	0.35232	T	0.0145331668245755	0.00297	T	0.831917	0.49916	T	0.07659884	0.17335	0.11151908	0.26901	0.08927661	0.20853	0.1245708	0.30023	-3.794	0.20715	T	.	.	0.148	0.32613	B	.;.;.	.;.;.	3.794293	0.54638	23.5	0.99730122280845368	0.82690	0.94990	0.63039	D	AEFDBHCI	0.690326	0.65069	D	0.0620998676865274	0.44702	2.739383	0.225965104077771	0.51292	3.313078	0.99999999880878	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.28	5.28	0.74118	5.305000	0.65541	11.073000	0.85618	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.052	0.64267	628	0.65206	.;.;.	.	.	.	.	.	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	0.003525	0.005051	0.000000	0.002924	0.000000	0.008621	0.003049	0.007576	0.05263	1222.83	34	chr3	9944565	.	A	G	1222.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.36;DP=698;ExcessHet=0.119;FS=4.73;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=-0.045;SOR=1.32	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,16:38:99:0|1:9944565_A_G:465,0,637:9944565	17	0	2	0
chr3	10844230	10844230	A	G	exonic	SLC6A11	.	nonsynonymous SNV	SLC6A11:NM_014229:exon5:c.A640G:p.I214V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.0182333145515	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1001421585	1.437e-05	1.437e-05	1.361e-05	1.513e-05	2.236e-05	9.23e-06	7.84e-06	8.52e-06	6.89e-06	0	2.236e-05	0	0	0	0	1.439e-05	6.623e-05	0	2.628e-05	2.627e-05	3.854e-05	1.345e-05	4.824e-05	8.14e-06	5.14e-06	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	2.94e-05	0	0	0.032	0.44694	D	0.126	0.35205	T	0.081	0.24602	B	0.256	0.39259	B	0.000000	0.84330	D	0.000000	0.999989	0.54805	D	1.895	0.50365	L	-1.0	0.76037	T	-0.83	0.22727	N	0.378	0.41952	-0.3914	0.72297	T	0.377	0.73468	T	10	0.24420261	0.41648	T	0.018233	0.40224	T	0.401	0.71479	0.541	0.65304	0.823609048703	0.82194	0.49872622062524735	0.49793	0.760600988679	0.64244	0.618989348412	0.55587	T	0.112299	0.42846	T	-0.0111857	0.50100	T	-0.238358	0.50958	T	0.426498383283615	0.29931	T	0.906909	0.67118	D	0.2630394	0.49368	0.18797845	0.42061	0.2630394	0.49367	0.18797845	0.42060	-7.76	0.59423	D	.	.	0.138	0.30022	B	.	.	3.675678	0.52287	23.2	0.99612816184788677	0.74932	0.97340	0.74132	D	AEFDBI	0.717077	0.66871	D	0.235730019128579	0.52937	3.465027	0.384374446493909	0.60601	4.249517	0.999659531252218	0.41424	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	4.168000	0.58007	11.257000	0.90944	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	0.995000	0.73285	0.8519:0.1481:0.0:0.0	11.665	0.50632	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1645.33	35	chr3	10844230	.	A	G	1645.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.685;DP=750;ExcessHet=0;FS=2.592;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=-0.781;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,72:115:99:0|1:10844230_A_G:1659,0,1050:10844230	18	0	1	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G,NR2C2:NM_003298:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2895	3183.21	214	chr3	15003967	.	C	G	3183.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-4.939;DP=3774;ExcessHet=8.9063;FS=188.233;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=1.07;SOR=13.139	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:170,54:224:99:.:.:133,0,3276:.	8	0	11	0
chr3	15023341	15023341	G	A	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon6:c.G698A:p.G233E,NR2C2:NM_003298:exon7:c.G755A:p.G252E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.139267528693	7.7e-05	.	7.425e-05	0	8.643e-05	0	0	7.503e-05	0	0.0002	5.82e-05	9	154602	rs141549777	3.079e-05	3.078e-05	2.995e-05	3.163e-05	0.0002	2.347e-05	2.095e-05	2.995e-05	2.038e-05	2.987e-05	2.236e-05	0.0003	0	0	0.0002	1.978e-05	0.0001	6.956e-05	3.285e-05	3.283e-05	2.568e-05	4.035e-05	0.0002	1.261e-05	7.98e-06	.	.	2.412e-05	0	0	0.0003	0	0	0	1.47e-05	0.0005	0.0002	0.175	0.22400	T	0.322	0.21745	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.093526	0.993652	0.42009	D	0.755	0.19153	N	-3.14	0.92884	D	-0.23	0.10656	N	0.444	0.48227	0.031	0.82862	D	0.608	0.86094	D	10	0.12213865	0.23165	T	0.139268	0.82175	D	0.517	0.79400	.	.	0.341886373756	0.33793	0.7787589395014495	0.77826	1.13531885789	0.78762	0.65823584795	0.61157	T	0.131998	0.46182	T	-0.0468873	0.44919	T	-0.0454477	0.67332	D	0.0584160102376698	0.06916	T	0.949605	0.80601	D	0.17035642	0.37606	0.3003873	0.56072	0.17035642	0.37606	0.3003873	0.56071	-4.747	0.33968	T	.	.	0.164	0.45714	B	.;.;.;.;.	.;.;.;.;.	2.966358	0.39520	21.0	0.98112769962384305	0.38367	0.97761	0.76941	D	AEFDBCI	0.668198	0.63606	D	-0.431587902675185	0.24369	1.315305	-0.287248628371244	0.28518	1.59069	0.648730314054577	0.22138	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.76	4.88	0.63131	5.192000	0.64953	6.698000	0.56362	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.843000	0.39806	0.0:0.1257:0.8743:0.0	17.248	0.86918	570	0.70478	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	728.33	33	chr3	15023341	.	G	A	728.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.85;DP=697;ExcessHet=0;FS=5.061;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=0.744;SOR=1.329	GT:AD:DP:GQ:PL	0/1:45,24:69:99:742,0,1110	18	0	1	0
chr3	16208561	16208561	C	G	exonic	GALNT15	.	nonsynonymous SNV	GALNT15:NM_001319051:exon4:c.C970G:p.P324A,GALNT15:NM_054110:exon4:c.C970G:p.P324A	.	431	1083	7	1	0	9	0.00413793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0006	0.0123802	0.0107	0.0011	0.0593	0.0449	0.0110	0.0017	0.0121	0.0013	0.0098252	1519	154602	rs12634179	0.0041	0.0041	0.0043	0.0038	0.0516	0.0040	0.0039	0.0497	0.0490	0.0007	0.0478	3.826e-05	0.0516	0.0123	0.0007	0.0006	0.0048	0.0016	0.0052	0.0052	0.0046	0.0059	0.0438	0.0049	0.0048	0.0391	0.0373	0.0011	0	0.0187	0	0.0438	0.0143	0	0.0010	0.0038	0.0021	0.752	0.03565	T	0.973	0.02465	T	0.001	0.07471	B	0.002	0.06944	B	0.022706	0.26581	N	0.432927	0.965842	0.25920	N	0.005	0.07933	N	0.1	0.61326	T	-0.35	0.13418	N	0.065	0.03726	-1.0760	0.08144	T	0.012	0.04700	T	10	0.0016605556	0.00020	T	.	.	.	0.055	0.15663	.	.	.	.	0.28860886469581315	0.28773	0.0404014523321	0.04329	0.29603895545	0.09813	T	0.009071	0.08280	T	-0.559344	0.00256	T	-0.531445	0.19143	T	0.00155269134112455	0.00016	T	0.69713	0.30934	T	0.050854705	0.09251	0.054251224	0.09294	0.050854705	0.09251	0.054251224	0.09293	-3.833	0.21298	T	.	.	0.069	0.04723	B	.;.	.;.	1.912649	0.24293	16.34	0.66035963670175535	0.07943	0.82235	0.41494	D	AEFI	0.163355	0.28963	N	-0.678537185040102	0.16635	0.8492307	-0.455180163907077	0.23402	1.276024	0.996384545931478	0.34709	0.516011	0.20929	0	0.563428	0.19063	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.93	4.12	0.47504	3.266000	0.51272	3.499000	0.38765	0.520000	0.23804	0.980000	0.35271	0.999000	0.35428	0.990000	0.65344	0.0:0.8053:0.1276:0.0671	11.747	0.51093	883	0.28872	Glycosyltransferase 2-like;Glycosyltransferase 2-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	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	1275.33	33	chr3	16208561	.	C	G	1275.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.245;DP=737;ExcessHet=0;FS=4.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.976;SOR=1.056	GT:AD:DP:GQ:PL	0/1:66,51:117:99:1289,0,1817	18	0	1	0
chr3	33114165	33114165	C	A	exonic	CRTAP	.	nonsynonymous SNV	CRTAP:NM_006371:exon1:c.C88A:p.R30S	Osteogenesis imperfecta, type VII, Autosomal recessive	1	1513	6	0	2	8	0.00197889	.	.	.	561384	Osteogenesis_imperfecta_type_7|not_provided	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.316	0.514404021768	.	.	0.0003	0	0	0	0	0.0002	0.0020	0.0012	0.0001552	24	154602	rs553076085	0.0001	0.0001	7.899e-05	0.0002	0.0013	0.0001	9.512e-05	0.0008	0.0007	0	2.285e-05	0	0	0	0.0013	6.323e-05	0.0002	0.0009	7.885e-05	7.875e-05	9e-05	6.72e-05	0.0008	4.497e-05	3.512e-05	0.0003	0.0002	0	0	0	0	0	0	0.0034	0.0001	0	0.0008	0.017	0.56456	D	0.322	0.19016	T	0.626	0.40074	P	0.3	0.43538	B	0.000003	0.62929	D	0.059868	0.99978	0.49076	D	2.25	0.63811	M	-0.96	0.75553	T	-0.9	0.24244	N	0.478	0.54234	-0.3022	0.74924	T	0.364	0.72498	T	10	0.14050329	0.26707	T	0.514404	0.95351	D	0.316	0.63799	0.369	0.37850	0.860281486465	0.85893	0.5639539647538084	0.56322	0.165905707828	0.18718	0.881907701492	0.94216	D	0.126983	0.45372	T	-0.227726	0.16951	T	-0.159081	0.58434	T	0.0846753445083178	0.10574	T	0.847215	0.52823	T	0.54783183	0.69835	0.37500122	0.62654	0.54783183	0.69836	0.37500122	0.62653	-4.084	0.25054	T	.	.	0.314	0.56363	B	.;.	.;.	4.851022	0.79284	27.1	0.99439033048274961	0.64670	0.77304	0.37993	D	ALL	0.499010	0.53288	N	0.135563686963298	0.48128	3.029165	0.164224251106483	0.47899	3.013452	0.999999999999996	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	4.28	4.28	0.50183	2.222000	0.42568	7.248000	0.57921	0.548000	0.25860	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:1.0:0.0:0.0	16.904	0.85990	711	0.56613	.;.	.	.	.	.	.	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	0.001535	0.000000	0.001359	0.000000	0.000000	0.008621	0.003125	0.003788	0.05263	1945.83	34	chr3	33114165	.	C	A	1945.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.66;DP=777;ExcessHet=0.119;FS=3.477;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.046;SOR=0.674	GT:AD:DP:GQ:PL	0/1:38,33:71:99:914,0,897	17	0	2	0
chr3	33152939	33152939	C	A	exonic	SUSD5	.	nonsynonymous SNV	SUSD5:NM_015551:exon5:c.G1693T:p.D565Y	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0131310852859	0.0023	0.000998403	0.0020	0.0003	0.0005	0	0.0008	0.0034	0.0011	6.07e-05	0.001934	299	154602	rs186544854	0.0028	0.0028	0.0029	0.0027	0.0057	0.0027	0.0027	0.0042	0.0037	0.0003	0.0008	0.0047	0	0.0004	0.0057	0.0033	0.0022	1.159e-05	0.0021	0.0021	0.0023	0.0018	0.0037	0.0019	0.0018	0.0033	0.0032	0.0005	0	0.0016	0.0035	0	0.0003	0	0.0037	0.0033	0	0.018	0.50676	D	0.006	0.70582	D	0.779	0.44223	P	0.246	0.38861	B	0.037449	0.24401	N	0.444709	0.739105	0.33802	D	1.95	0.52479	M	2.73	0.11839	T	-4.33	0.76740	D	0.206	0.22870	-1.0405	0.17162	T	0.025	0.10464	T	10	0.004412234	0.00090	T	0.013131	0.32289	T	0.099	0.28413	.	.	0.269558022972	0.26553	0.5650212336957493	0.56429	0.155211787068	0.17521	0.31748637557	0.13040	T	0.064438	0.32434	T	-0.468603	0.00867	T	-0.44673	0.28060	T	0.047360521584272	0.05030	T	0.693131	0.30283	T	0.12872684	0.30087	0.11174428	0.26957	0.12872684	0.30087	0.11174428	0.26956	-7.117	0.54882	T	.	.	0.118	0.24226	B	.	.	2.063045	0.26232	17.05	0.84300067506521981	0.15211	0.94681	0.61966	D	AEFDBI	0.213316	0.33891	N	-0.0290334162151889	0.40545	2.409572	-0.0605379399793659	0.37038	2.163279	0.999848575426657	0.43971	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.8	4.0	0.45673	2.934000	0.48649	3.376000	0.37968	0.596000	0.33519	0.998000	0.41325	0.847000	0.27355	0.001000	0.02609	0.0:0.7818:0.1427:0.0755	9.476	0.38034	716	0.55970	.	.	.	.	.	.	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	0.003525	0.005051	0.004076	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	1917.33	39	chr3	33152939	.	C	A	1917.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.376;DP=857;ExcessHet=0;FS=3.294;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=-0.408;SOR=0.463	GT:AD:DP:GQ:PL	0/1:53,69:122:99:1931,0,1513	18	0	1	0
chr3	36829633	36829633	T	C	exonic	TRANK1	.	nonsynonymous SNV	TRANK1:NM_014831:exon22:c.A8608G:p.I2870V,TRANK1:NM_001329998:exon23:c.A8740G:p.I2914V	.	437	1001	81	3	0	87	0.0416467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0041	0.0091853	0.0086	0.0012	0.0027	0	0.0002	0.0061	0.0067	0.0353	0.0079883	1235	154602	rs147602680	0.0067	0.0067	0.0057	0.0077	0.0356	0.0066	0.0065	0.0345	0.0341	0.0009	0.0033	0.0053	2.519e-05	0.0004	0.0210	0.0053	0.0063	0.0356	0.0043	0.0043	0.0039	0.0048	0.0332	0.0041	0.0039	0.0290	0.0274	0.0010	0	0.0038	0.0049	0.0002	0.0008	0.0170	0.0052	0.0071	0.0332	0.196	0.20683	T	0.372	0.16376	T	0.0	0.02946	B	0.0	0.01387	B	0.520809	0.05201	N	1.404800	1	0.08975	N	0.69	0.16971	N	2.0	0.21473	T	0.02	0.06739	N	0.057	0.02861	-0.9958	0.31082	T	0.035	0.15074	T	10	0.0029999614	0.00049	T	.	.	.	0.031	0.07369	.	.	0.0986583533028	0.09354	0.07676767821433089	0.07612	0.145140460238	0.16409	0.310466110706	0.11977	T	0.027208	0.19973	T	-0.694287	0.00039	T	-0.744309	0.03712	T	0.00112084309542654	0.00011	T	0.558444	0.19458	T	0.047605358	0.08164	0.053054407	0.08861	0.047605358	0.08164	0.053054407	0.08861	-2.739	0.07636	T	.	.	0.071	0.04599	B	.;.	.;.	0.094974	0.04978	1.540	0.89386594739393521	0.18753	0.01778	0.05572	N	AEFDGBI	0.046980	0.07860	N	-1.01800290355481	0.08230	0.3851583	-1.02789908835854	0.09174	0.4549581	0.82360940086271	0.24567	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.17	-2.89	0.05326	-0.033000	0.12196	-3.041000	0.03115	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.927000	0.46353	0.0:0.4816:0.0:0.5184	10.658	0.44877	794	0.45591	.;.	.	.	.	.	.	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	0.009567	0.000000	0.006793	0.005848	0.000000	0.017241	0.015244	0.026515	0.05263	3063.83	40	chr3	36829633	.	T	C	3063.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.34;DP=874;ExcessHet=0.119;FS=1.484;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=1.15;SOR=0.82	GT:AD:DP:GQ:PL	0/1:68,61:129:99:1346,0,1814	17	0	2	0
chr3	38579461	38579461	G	A	exonic	SCN5A	.	nonsynonymous SNV	SCN5A:NM_000335:exon18:c.C3260T:p.A1087V,SCN5A:NM_001099404:exon18:c.C3263T:p.A1088V,SCN5A:NM_001099405:exon18:c.C3263T:p.A1088V,SCN5A:NM_001160160:exon18:c.C3260T:p.A1087V,SCN5A:NM_001354701:exon18:c.C3260T:p.A1087V,SCN5A:NM_198056:exon18:c.C3263T:p.A1088V	Atrial fibrillation, familial, 10, Autosomal dominant;Brugada syndrome 1, Autosomal dominant;Cardiomyopathy, dilated, 1E, Autosomal dominant;Heart block, nonprogressive, Autosomal dominant;Heart block, progressive, type IA, Autosomal dominant;Long QT syndrome-3, Autosomal dominant;Sick sinus syndrome 1, Autosomal recessive;Ventricular fibrillation, familial, 1	.	.	.	.	.	.	.	.	.	YES	909492	Cardiac_arrhythmia|not_provided	EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.232	0.106854158	.	.	9.018e-06	0	0	0	0	0	0	6.59e-05	6.5e-06	1	154602	rs778016632	2.055e-06	2.736e-06	1.363e-06	2.754e-06	3.481e-05	5.5e-07	1.5e-07	9.25e-06	4.56e-06	0	0	0	0	0	0	0	0	3.481e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.15984	T	0.612	0.16280	T	0.025	0.21781	B	0.038	0.23986	B	0.202723	0.03331	N	1.543990	0.619802	0.32695	D	0.46	0.12951	N	-3.7	0.95663	D	-0.38	0.13418	N	0.156	0.26837	-0.0295	0.81641	T	0.788	0.92815	D	10	0.09685749	0.17404	T	0.106854	0.78266	D	0.232	0.53354	0.307	0.27806	0.617229050736	0.61413	0.4526584610213486	0.45183	0.0327901517294	0.03426	.	.	.	0.381184	0.74356	T	0.0602657	0.59646	T	-0.151209	0.59137	T	0.117385654064531	0.14171	T	0.873813	0.58316	D	0.034759693	0.03961	0.057418093	0.10434	0.034759693	0.03961	0.057418093	0.10433	-4.483	0.30784	T	0.11432342206569455	0.10104	0.073	0.04517	B	.;.;.;.;.;.	.;.;.;.;.;.	1.585523	0.20285	14.68	0.79674545966602095	0.12849	0.47174	0.27924	N	AEFDBHCIJ	0.240115	0.36196	N	-0.526067770702512	0.21241	1.12576	-0.513117213337492	0.21796	1.180826	0.999999999727493	0.74766	0.554377	0.28877	0	0.491513	0.07743	0	0.584781	0.30282	0	0.567892	0.33627	0	.	.	4.42	2.55	0.29757	1.190000	0.31735	3.046000	0.36101	0.672000	0.70159	0.387000	0.26063	1.000000	0.68203	0.340000	0.25432	0.0:0.2153:0.5987:0.186	7.034	0.24160	543	0.72751	Sodium ion transport-associated;.;Sodium ion transport-associated;Sodium ion transport-associated;Sodium ion transport-associated;Sodium ion transport-associated	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.05263	1275.83	33	chr3	38579461	.	G	A	1275.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.296;DP=692;ExcessHet=0.119;FS=0.882;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.834;SOR=0.58	GT:AD:DP:GQ:PL	0/1:24,17:41:99:466,0,716	17	0	2	0
chr3	44893589	44893589	T	C	exonic	TGM4	.	nonsynonymous SNV	TGM4:NM_003241:exon5:c.T443C:p.F148S	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.522	0.0248980037134	.	0.000998403	0.0005	0	0	0.0076	0	0	0	0	0.0004592	71	154602	rs146491241	0.0002	0.0002	0.0002	0.0002	0.0066	0.0002	0.0002	0.0059	0.0057	0	2.237e-05	0	0.0066	0	0	3.598e-06	0.0002	0.0002	0.0003	0.0003	0.0003	0.0003	0.0079	0.0002	0.0002	0.0060	0.0053	0	0	6.54e-05	0	0.0079	0	0	0	0	0	0.001	0.78490	D	0.004	0.74150	D	0.949	0.53761	P	0.642	0.52168	P	0.010814	0.29776	U	0.148250	0.918596	0.36611	D	2.255	0.64187	M	-2.43	0.88689	D	-6.11	0.90023	D	0.504	0.53620	0.312	0.87744	D	0.615	0.86401	D	10	0.019378632	0.00432	T	0.024898	0.47884	T	0.522	0.79704	.	.	0.939588796861	0.93895	0.4614179819358731	0.46059	0.524007859483	0.50104	0.454250156879	0.32524	T	0.448435	0.79032	T	-0.182937	0.23300	T	-0.0251652	0.68689	D	0.192082785059578	0.19966	T	.	.	.	0.37037674	0.58613	0.39198136	0.63955	0.37037674	0.58614	0.39198136	0.63955	-10.167	0.74905	D	.	.	0.573	0.67769	P	.	.	2.492344	0.32161	18.96	0.99663743025449647	0.78138	0.05775	0.11707	N	AEFDGBHI	0.044808	0.07256	N	-0.180277573309802	0.33956	1.932501	-0.422377980116764	0.24342	1.332429	0.999992594967781	0.74766	0.553676	0.25195	0	0.547309	0.14657	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	2.32	2.32	0.27895	0.336000	0.19565	-0.329000	0.09904	0.502000	0.22824	0.061000	0.21800	0.001000	0.17328	0.212000	0.22240	0.2194:0.0:0.0:0.7806	6.400	0.20837	307	0.87649	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1273.33	35	chr3	44893589	.	T	C	1273.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.951;DP=766;ExcessHet=0;FS=8.43;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.254;SOR=1.405	GT:AD:DP:GQ:PL	0/1:43,48:91:99:1287,0,1176	18	0	1	0
chr3	45967832	45967832	T	C	exonic	FYCO1	.	nonsynonymous SNV	FYCO1:NM_024513:exon8:c.A1502G:p.K501R	Cataract 18, autosomal recessive, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1542733	Cataract_18	MONDO:MONDO:0012395,MedGen:C1864908,OMIM:610019,Orphanet:91492,Orphanet:98991,Orphanet:98992,Orphanet:98995	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.033	0.00614816150294	.	0.000199681	0.0002	0	0	0.0029	0	0	0	0	0.0001682	26	154602	rs146010173	0.0001	0.0001	9.937e-05	0.0001	0.0033	8.915e-05	8.399e-05	0.0029	0.0027	2.987e-05	0	0	0.0033	0	0	8.993e-07	0.0001	0.0001	0.0001	0.0001	5.14e-05	0.0002	0.0023	6.508e-05	5.32e-05	0.0013	0.0010	0	0	0	0	0.0023	0	0	0	0	0.0008	0.153	0.24372	T	0.478	0.11968	T	0.008	0.14655	B	0.007	0.12992	B	0.204591	0.16515	N	0.652897	0.950089	0.26516	N	2.43	0.70455	M	1.99	0.21865	T	-0.68	0.19509	N	0.101	0.11626	-1.0576	0.12362	T	0.031	0.13199	T	10	0.0047347844	0.00100	T	0.006148	0.16111	T	0.033	0.08068	.	.	0.229924730088	0.22615	0.15899051762371547	0.15820	0.132247561378	0.14905	0.281267821789	0.07669	T	0.00967	0.08788	T	-0.526794	0.00401	T	-0.533471	0.18942	T	0.035646427125906	0.02918	T	0.661834	0.27067	T	0.051567063	0.09489	0.057358783	0.10413	0.051567063	0.09489	0.057358783	0.10412	-3.844	0.21463	T	0.2873892948954121	0.38354	0.099	0.16538	B	.;.	.;.	1.514934	0.19458	14.27	0.97841164697377503	0.36332	0.67347	0.33400	D	AEFDGBCI	0.262001	0.37984	N	-0.499122735808923	0.22108	1.178264	-0.388595369390229	0.25336	1.392689	0.999996960566201	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.4	2.8	0.31881	0.743000	0.25899	1.752000	0.28483	0.665000	0.62972	0.064000	0.21895	0.988000	0.31051	0.768000	0.36443	0.1421:0.0781:0.0:0.7798	6.145	0.19495	390	0.83257	.;.	.	.	.	.	.	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	1	0	.	.	.	.	.	.	.	.	0.02632	1481.33	56	chr3	45967832	.	T	C	1481.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.891;DP=1019;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=1.56;SOR=0.74	GT:AD:DP:GQ:PL	0/1:72,63:135:99:1495,0,2118	18	0	1	0
chr3	46998748	46998748	G	T	exonic	NBEAL2	.	nonsynonymous SNV	NBEAL2:NM_001365116:exon22:c.G3151T:p.D1051Y,NBEAL2:NM_015175:exon23:c.G3253T:p.D1085Y	Gray platelet syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.0363089984163	.	.	2.966e-05	0	0	0	0	5.755e-05	0	0	1.29e-05	2	154602	rs772177163	8.425e-06	1.231e-05	6.941e-06	9.942e-06	1.1e-05	4.49e-06	3.55e-06	5.86e-06	4.63e-06	0	0	0	0	0	0	1.1e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	0.998	0.73220	D	0.921	0.65636	D	0.007977	0.01188	N	2.433060	0.759519	0.81001	D	2.365	0.68172	M	1.22	0.37052	T	-6.47	0.91479	D	0.732	0.73285	-0.9443	0.41927	T	0.217	0.57889	T	10	0.7884839	0.78453	D	0.036309	0.56907	D	0.308	0.62947	0.491	0.57732	0.405336283486	0.40149	0.567451490773696	0.56673	0.83129568198	0.67629	0.554537296295	0.46497	T	0.158767	0.50192	T	0.0957348	0.63828	D	-0.10026	0.63378	T	0.996840834617615	0.90201	D	0.908909	0.67748	D	0.4924744	0.66650	0.51576996	0.72022	0.4924744	0.66651	0.51576996	0.72022	-12.175	0.85693	D	0.535564732384791	0.60588	0.521	0.65528	A	.	.	5.080172	0.84782	28.4	0.99493696257778308	0.67630	0.90548	0.51815	D	ALL	0.507795	0.53794	D	0.661516960083434	0.77114	6.613165	0.643162305290491	0.78103	6.809303	0.999999999999999	0.74766	0.839682	0.99964	0	0.827368	0.99789	0	0.736553	0.94036	0	0.636	0.56748	0	.	.	5.05	5.05	0.67566	5.160000	0.64774	9.883000	0.82214	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.694000	0.33958	0.0872:0.0:0.9128:0.0	10.748	0.45393	26	0.98304	Domain of unknown function DUF4704	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	1415.83	33	chr3	46998748	.	G	T	1415.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.57;DP=716;ExcessHet=0.119;FS=1.494;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.01;SOR=0.844	GT:AD:DP:GQ:PL	0/1:38,27:65:99:747,0,1089	17	0	2	0
chr3	49795287	49795287	C	T	exonic	CDHR4	.	nonsynonymous SNV	CDHR4:NM_001007540:exon8:c.G940A:p.G314S	.	424	1096	1	1	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	.	.	0.00419329	0.0013	0	0	0.0180	0	0.0005	0	0.0014	0.0004204	65	154602	rs76459693	0.0013	0.0012	0.0013	0.0013	0.0435	0.0013	0.0012	0.0417	0.0409	6.33e-05	5.602e-05	3.971e-05	0.0435	0.0001	0.0004	0.0001	0.0009	0.0011	0.0009	0.0009	0.0008	0.0010	0.0214	0.0008	0.0007	0.0182	0.0170	0.0002	0	6.543e-05	0.0003	0.0214	0	0	0.0002	0.0005	0.0012	0.398	0.10553	T	0.406	0.14725	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-2.02	0.85542	D	-0.47	0.15178	N	0.117	0.10626	-0.8567	0.51498	T	0.131	0.44228	T	9	0.0034510195	0.00061	T	.	.	.	0.152	0.39956	.	.	0.225215365344	0.22153	0.3785342843536288	0.37768	0.029538132252	0.03033	0.274319916964	0.06713	T	0.011372	0.10158	T	-0.491902	0.00634	T	-0.430681	0.29859	T	0.00210773391823605	0.00022	T	0.419458	0.11115	T	0.028900255	0.02298	0.036371537	0.03071	0.028900255	0.02298	0.036371537	0.03071	-4.895	0.35678	T	.	.	0.086	0.10545	B	.	.	0.597971	0.09663	6.436	0.53082342919117753	0.04871	0.02197	0.06416	N	AEFDBI	0.054823	0.10002	N	-1.14295017226167	0.05897	0.2700464	-1.11975740200259	0.07323	0.3557643	0.999940820982628	0.47345	0.700653	0.57754	0	0.573888	0.26702	0	0.717052	0.78885	0	0.542086	0.14980	0	.	.	5.66	0.226	0.14625	0.521000	0.22601	1.625000	0.27708	-0.116000	0.14526	0.000000	0.06391	0.040000	0.21562	0.002000	0.04165	0.2234:0.2428:0.5338:0.0	6.652	0.22157	2	0.99499	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	.	.	.	.	.	.	.	.	0.02632	1337.33	35	chr3	49795287	.	C	T	1337.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=737;ExcessHet=0;FS=3.537;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.863;SOR=1.067	GT:AD:DP:GQ:PL	0/1:59,51:110:99:1351,0,1584	18	0	1	0
chr3	51989026	51989026	G	A	exonic	ABHD14A-ACY1;ACY1	.	nonsynonymous SNV	ACY1:NM_001198896:exon13:c.G962A:p.R321H,ACY1:NM_001198897:exon13:c.G983A:p.R328H,ACY1:NM_001198898:exon14:c.G1073A:p.R358H,ACY1:NM_000666:exon15:c.G1178A:p.R393H,ACY1:NM_001198895:exon15:c.G1178A:p.R393H,ABHD14A-ACY1:NM_001316331:exon17:c.G1448A:p.R483H	.	0	1519	3	0	0	3	0.000986518	.	.	.	33153	not_specified|not_provided|Aminoacylase_1_deficiency|ACY1-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012368,MedGen:C1835922,OMIM:609924,Orphanet:137754|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.322	0.0221070693253	0.0046	0.00279553	0.0040	0.0006	0.0012	0.0003	0.0065	0.0061	0.0033	0.0004	0.0040556	627	154602	rs121912701	0.0042	0.0042	0.0044	0.0040	0.0047	0.0041	0.0041	0.0046	0.0046	0.0007	0.0015	0.0075	7.557e-05	0.0056	0.0016	0.0047	0.0039	0.0003	0.0034	0.0034	0.0036	0.0031	0.0056	0.0031	0.0030	0.0051	0.0049	0.0009	0	0.0014	0.0078	0	0.0040	0.0034	0.0056	0.0019	0.0004	0.271	0.47320	T	0.183	0.45110	T	0.987	0.61912	D	0.79	0.57710	P	0.127522	0.18764	N	0.555850	1.63594e-06	0.08975	A	0.47	0.13106	N	0.58	0.54149	T	-1.37	0.42957	N	0.706	0.70966	-0.7520	0.57830	T	0.122	0.42441	T	9	0.06689611	0.09244	T	0.022107	0.44964	T	0.322	0.64420	.	.	0.411265580357	0.40742	0.5421054336288056	0.54135	0.623418994379	0.63515	0.280049979687	0.07499	T	0.216745	0.57900	T	-0.357922	0.04248	T	-0.276518	0.47161	T	0.0429165743705527	0.04221	T	0.79972	0.46506	T	0.17550808	0.38413	0.090769485	0.21305	0.17550808	0.38413	0.090769485	0.21304	-5.584	0.46514	T	0.13250981941009074	0.14135	0.071	0.13690	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.546571	0.19829	14.46	0.99407731860301507	0.63122	0.13376	0.17820	N	AEFDBHCI	0.519045	0.54448	D	-0.662005241832962	0.17111	0.877753	-0.796424197371175	0.14583	0.7626883	0.999998325056083	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.645665	0.59343	0	.	.	5.37	-0.979	0.09751	0.093000	0.14925	-2.115000	0.04190	-1.796000	0.00631	0.000000	0.06391	0.000000	0.08366	0.447000	0.27828	0.5807:0.0:0.4193:0.0	11.480	0.49568	173	0.93306	.;.;.;.;.;.;.	.	.	.	.	.	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	1	0	0.004028	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.003788	0.05263	3036.83	44	chr3	51989026	.	G	A	3036.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.004;DP=932;ExcessHet=0.119;FS=2.15;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=0.467;SOR=0.56	GT:AD:DP:GQ:PL	0/1:72,60:132:99:1508,0,1894	17	0	2	0
chr3	52381790	52381790	G	A	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon49:c.G7759A:p.V2587M	.	427	1094	1	0	0	1	0.00045683	.	.	.	1025428	Spermatogenic_failure_18|Ciliary_dyskinesia,_primary,_37	MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576|MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.178	0.0297846431255	.	.	0.0004	0	0	0.0010	0	0.0001	0	0.0014	0.0001746	27	154602	rs747611842	0.0001	0.0001	0.0001	0.0001	0.0013	0.0001	0.0001	0.0010	0.0009	0.0001	0	7.724e-05	0.0013	0	0	5.865e-05	0.0001	0.0006	3.284e-05	3.283e-05	6.421e-05	0	0.0004	1.261e-05	7.98e-06	7.282e-05	3.026e-05	7.235e-05	0	0	0	0	0	0	0	0	0.0004	0.265	0.16305	T	0.134	0.34241	T	.	.	.	.	.	.	0.000285	0.46274	D	0.000000	1	0.81001	D	.	.	.	1.02	0.40749	T	-0.98	0.25986	N	0.474	0.50958	-0.8120	0.54429	T	0.181	0.52874	T	10	0.13129309	0.24987	T	0.029785	0.52230	D	0.178	0.44724	0.405	0.43738	0.557597400255	0.55419	0.6284365031234221	0.62776	0.478096384883	0.46899	0.68270534277	0.64657	T	.	.	.	-0.342247	0.05233	T	-0.349896	0.39218	T	0.191265766913982	0.19918	T	0.851815	0.53646	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31633	B	.	.	2.998526	0.40058	21.1	0.99262180517214349	0.57255	0.98240	0.80839	D	AEFDBI	0.747198	0.68933	D	0.358605523059313	0.59196	4.096976	0.340688412211882	0.57948	3.962779	0.99999789500014	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	5.19	4.33	0.51083	5.913000	0.69690	7.402000	0.58581	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0722:0.0:0.9278:0.0	14.113	0.64666	70	0.97015	.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.02632	1587.33	35	chr3	52381790	.	G	A	1587.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.83;DP=729;ExcessHet=0;FS=6.801;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=1.79;SOR=0.781	GT:AD:DP:GQ:PL	0/1:38,55:93:99:1601,0,834	18	0	1	0
chr3	58130751	58130751	C	G	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164317:exon25:c.C4233G:p.F1411L,FLNB:NM_001164318:exon25:c.C4233G:p.F1411L,FLNB:NM_001164319:exon25:c.C4233G:p.F1411L,FLNB:NM_001457:exon25:c.C4233G:p.F1411L	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	0	1504	18	0	0	18	0.00594845	.	.	.	367365	not_provided|FLNB-Related_Spectrum_Disorders|FLNB-related_disorder	MedGen:C3661900|MedGen:CN239400|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.820	0.332673060182	0.0004	0.000199681	0.0007	0	0.0005	0	0	0.0011	0	0.0002	0.000608	94	154602	rs143831841	0.0006	0.0006	0.0005	0.0006	0.0045	0.0005	0.0005	0.0032	0.0027	8.965e-05	0.0004	0.0005	0	0	0.0045	0.0006	0.0009	0.0001	0.0006	0.0006	0.0005	0.0007	0.0011	0.0005	0.0005	0.0009	0.0008	0.0001	0	0.0004	0.0012	0	0	0.0034	0.0011	0.0028	0.0004	0.003	0.78490	D	0.002	0.79402	D	0.995	0.67487	D	0.982	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.5	0.92762	M	-2.32	0.87830	D	-5.75	0.88224	D	0.868	0.90476	0.935	0.96181	D	0.857	0.95231	D	10	0.6121359	0.67503	D	0.332673	0.91795	D	0.820	0.94238	0.835	0.94294	0.951054475844	0.95053	0.8061838995509899	0.80573	0.975079256264	0.73533	0.809175550938	0.83366	D	0.844054	0.96389	D	0.105612	0.64894	D	0.338395	0.89852	D	0.115772243935204	0.14012	T	0.983368	0.94382	D	0.7385407	0.80209	0.77409256	0.86669	0.83847	0.86501	0.75830936	0.85719	-10.551	0.77139	D	0.7519093213558078	0.83397	0.987	0.93037	P	.;.;.;.;.	.;.;.;.;.	4.243811	0.64366	24.7	0.99904909905401584	0.97576	0.94613	0.61738	D	AEFBCI	0.643741	0.62025	D	0.849379135431809	0.89074	9.824005	0.775540825754157	0.88046	9.437694	0.999999999999914	0.74766	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.711	0.71501	0	.	.	5.51	5.51	0.81769	2.747000	0.47151	4.816000	0.45080	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.431	0.94764	424	0.81215	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005556	0.000000	0.009537	0.000000	0.000000	0.008621	0.012195	0.003817	0.05263	1576.83	34	chr3	58130751	.	C	G	1576.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.62;DP=737;ExcessHet=0.119;FS=0.706;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=0.395;SOR=0.811	GT:AD:DP:GQ:PL	0/1:32,32:64:99:906,0,788	17	0	2	0
chr3	58508985	58508985	C	G	exonic	ACOX2	.	nonsynonymous SNV	ACOX2:NM_003500:exon14:c.G1891C:p.D631H	Bile acid synthesis defect, congenital, 6, Autosomal recessive	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.869	0.176084945929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1383456151	4.104e-06	4.104e-06	5.445e-06	2.75e-06	3.478e-05	1.48e-06	9.7e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	2.698e-06	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000007	0.62929	D	0.000000	1	0.81001	D	3.745	0.94976	H	-1.92	0.84773	D	-6.53	0.91741	D	0.971	0.98167	0.873	0.95317	D	0.829	0.94260	D	10	0.9927707	0.99812	D	0.176085	0.85196	D	0.869	0.96059	0.964	0.99641	0.971999218585	0.97169	0.8208016460682747	0.82037	0.77212903692	0.64820	0.610770046711	0.54425	T	0.508316	0.82566	D	0.305527	0.83403	D	0.38262	0.91523	D	0.994656324386597	0.86077	D	0.933407	0.75038	D	0.88854957	0.90383	0.80887896	0.88829	0.88854957	0.90384	0.80887896	0.88830	-10.578	0.77294	D	0.7498283870452334	0.83191	0.918	0.84037	P	.;.	.;.	5.036345	0.83793	28.1	0.99546469917897762	0.70836	0.94398	0.61038	D	AEFBI	0.851880	0.76876	D	0.88083942576396	0.90790	10.56703	0.796853253063265	0.89574	10.031	0.999998726744868	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.43	5.43	0.79006	5.370000	0.65897	7.562000	0.60503	0.549000	0.26987	0.998000	0.41325	1.000000	0.68203	0.951000	0.49849	0.0:1.0:0.0:0.0	19.289	0.94076	646	0.63441	Acyl-CoA oxidase, C-terminal;Acyl-CoA oxidase, C-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	.	.	.	.	.	.	.	.	0.05263	2021.83	37	chr3	58508985	.	C	G	2021.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.78;DP=794;ExcessHet=0.119;FS=3.534;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.429;SOR=0.978	GT:AD:DP:GQ:PL	0/1:54,41:95:99:979,0,1275	17	0	2	0
chr3	66263371	66263371	T	G	exonic	SLC25A26	.	nonsynonymous SNV	SLC25A26:NM_001164796:exon4:c.T181G:p.L61V,SLC25A26:NM_001350992:exon4:c.T181G:p.L61V,SLC25A26:NM_001350991:exon5:c.T445G:p.L149V,SLC25A26:NM_001379210:exon5:c.T445G:p.L149V,SLC25A26:NM_001350993:exon6:c.T181G:p.L61V,SLC25A26:NM_173471:exon6:c.T445G:p.L149V	Combined oxidative phosphorylation deficiency 28, Autosomal recessive	436	1084	2	0	0	2	0.000921659	.	.	YES	734275	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.081	.	.	0.00359425	0.0016	0	0	0.0210	0	0	0	0.0005	0.001216	188	154602	rs141974918	0.0006	0.0006	0.0006	0.0006	0.0191	0.0005	0.0005	0.0180	0.0175	2.993e-05	2.244e-05	7.674e-05	0.0191	0	0	9.021e-06	0.0004	0.0004	0.0008	0.0008	0.0007	0.0010	0.0230	0.0007	0.0007	0.0197	0.0184	0	0	6.533e-05	0	0.0230	0	0	0	0.0009	0.0010	0.052	0.39097	T	0.227	0.39040	T	0.096	0.25489	B	0.241	0.38645	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.62	0.41497	L	-1.31	0.79666	T	-1.12	0.32185	N	0.738	0.74644	-0.4948	0.68836	T	0.270	0.64130	T	10	0.016282588	0.00343	T	.	.	.	0.495	0.78036	.	.	0.216624796971	0.21254	0.6720802852410893	0.67146	0.0399935858434	0.04279	0.750469923019	0.74516	T	0.204935	0.56385	T	-0.0936835	0.37468	T	0.108249	0.77456	D	0.0653749577919013	0.07986	T	.	.	.	0.18659294	0.40075	0.25934756	0.51681	0.25839332	0.48888	0.27548352	0.53485	-8.137	0.62000	D	.	.	0.136	0.37312	B	.;.;.	.;.;.	2.744923	0.35961	20.1	0.99304798748580225	0.58759	0.94335	0.60838	D	AEFBI	0.609562	0.59872	D	-0.0423241294099502	0.39945	2.364018	0.0803800624155984	0.43562	2.655462	0.25686601784904	0.18745	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.54	4.39	0.52211	2.781000	0.47437	2.824000	0.34981	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1483:0.0:0.8517	8.525	0.32462	.	.	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2040.33	35	chr3	66263371	.	T	G	2040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.047;DP=802;ExcessHet=0;FS=1.914;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.168;SOR=0.554	GT:AD:DP:GQ:PL	0/1:87,80:167:99:2054,0,2354	18	0	1	0
chr3	72888319	72888319	G	A	exonic	GXYLT2	.	nonsynonymous SNV	GXYLT2:NM_001080393:exon1:c.G86A:p.R29H	.	1008	510	3	1	0	5	0.00487805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0146721442035	.	.	0	.	.	.	.	.	.	.	0.0005379	14	26028	rs745383897	0.0009	0.0007	0.0009	0.0009	0.0060	0.0008	0.0008	0.0033	0.0025	0.0002	0.0017	0.0013	0	0	0.0060	0.0009	0.0011	0.0022	0.0010	0.0010	0.0009	0.0010	0.0018	0.0008	0.0008	0.0012	0.0011	0.0001	0.0198	0.0018	0.0006	0.0002	0.0005	0.0069	0.0011	0.0015	0.0017	0.26	0.16574	T	0.156	0.31833	T	0.131	0.27154	B	0.006	0.12133	B	0.000612	0.00648	U	408.164000	1	0.08975	N	0.695	0.17993	N	.	.	.	0.01	0.06868	N	0.113	0.10056	-1.0597	0.11830	T	0.051	0.21844	T	9	0.0050777197	0.00110	T	0.014672	0.34938	T	0.035	0.08770	.	.	0.119812018005	0.11559	0.3581853087134045	0.35732	0.189873462192	0.21310	0.828981459141	0.86406	D	2.81E-4	0.00069	T	-0.509578	0.00505	T	-0.550301	0.17298	T	0.696078777313232	0.40532	D	0.432057	0.11757	T	0.05838303	0.11738	0.06624707	0.13544	0.05838303	0.11737	0.06624707	0.13544	-5.827	0.44809	T	.	.	0.208	0.43503	B	.	.	1.830320	0.23256	15.95	0.99623093251909145	0.75533	0.07148	0.13173	N	ALL	0.036513	0.04877	N	-0.817076492993374	0.12874	0.6304017	-0.780354524399652	0.14977	0.7853767	0.99999999807978	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	2.04	1.07	0.19399	2.196000	0.42320	4.075000	0.41695	0.297000	0.18867	0.088000	0.22533	0.998000	0.33993	0.007000	0.07825	0.1984:0.0:0.8016:0.0	5.023	0.13710	849	0.35778	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.0625	118.04	1	chr3	72888319	.	G	A	118.04	.	AC=2;AF=0.063;AN=32;DP=63;ExcessHet=0;FS=0;InbreedingCoeff=0.3375;MLEAC=2;MLEAF=0.063;MQ=60;QD=23.61;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,5:5:15:139,15,0	15	1	0	3
chr3	75664401	75664401	C	A	exonic	FRG2C	.	nonsynonymous SNV	FRG2C:NM_001124759:exon1:c.C22A:p.P8T	.	444	1076	2	0	0	2	0.000928505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.198970959228	.	.	.	.	.	.	.	.	.	.	0.0001488	23	154602	rs77483733	0.0024	0.0024	0.0023	0.0024	0.0610	0.0023	0.0023	0.0590	0.0582	2.993e-05	4.473e-05	0	0.0610	0.0049	0	0.0002	0.0038	0.0038	0.0024	0.0025	0.0020	0.0028	0.0502	0.0022	0.0021	0.0452	0.0432	0.0002	0	0.0001	0	0.0502	0.0038	0	0.0004	0.0014	0.0052	0.562	0.06341	T	0.741	0.04982	T	0.004	0.12183	B	0.01	0.14941	B	0.905707	0.08588	U	0.930858	1	0.08975	N	0.345	0.11182	N	1.57	0.29342	T	-1.56	0.37759	N	0.069	0.04188	-0.9944	0.31459	T	0.035	0.14987	T	9	0.004037738	0.00078	T	0.198971	0.86625	D	0.045	0.12272	0.144	0.04746	0.0401082797425	0.02173	0.012025101400946616	0.01161	.	.	.	.	.	0.022065	0.17078	T	-0.634606	0.00090	T	-0.630891	0.10348	T	0.0230427016499927	0.01029	T	0.211579	0.02577	T	0.04899747	0.08630	0.06833749	0.14257	0.04899747	0.08629	0.06833749	0.14257	-3.339	0.14245	T	.	.	0.055	0.00375	B	.;.	.;.	-0.841626	0.01028	0.043	0.52915801883311298	0.04839	0.01611	0.05216	N	AEFI	0.032739	0.03752	N	-1.14039961821758	0.05940	0.272127	-1.17091985999595	0.06400	0.3079492	0.704577674711711	0.22743	0.582742	0.33608	0	0.547309	0.14657	0	0.61531	0.40942	0	0.613276	0.41899	0	.	.	0.517	0.517	0.16223	-1.177000	0.03206	.	.	-2.788000	0.00188	0.036000	0.20778	0.000000	0.08366	0.000000	0.00833	.	.	.	988	0.01987	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	1792.83	70	chr3	75664401	.	C	A	1792.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.22;DP=1377;ExcessHet=0.119;FS=12.877;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=53.41;MQRankSum=4.79;QD=7.79;ReadPosRankSum=-0.022;SOR=0.261	GT:AD:DP:GQ:PL	0/1:67,34:101:99:719,0,2163	17	0	2	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	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	47576.4	207	chr3	75730451	.	T	G	47576.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.127;DP=2663;ExcessHet=48.2876;FS=6.146;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.47;MQRankSum=-6.987;QD=18.24;ReadPosRankSum=0.373;SOR=0.4	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,79:145:99:0|1:75730450_C_T:3119,0,2534:75730450	0	0	19	0
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	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	.	.	.	.	.	.	.	.	0.2895	1826.72	112	chr3	75730611	.	G	T	1826.72	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.712;DP=1498;ExcessHet=8.9063;FS=32.245;InbreedingCoeff=-0.4111;MLEAC=11;MLEAF=0.289;MQ=56.36;MQRankSum=-6.363;QD=2.05;ReadPosRankSum=-2.834;SOR=8.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:70,7:77:63:.:.:63,0,2855:.	8	0	11	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10260.0	245	chr3	75736884	.	G	GA	10260.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.122;DP=2735;ExcessHet=25.4433;FS=3.097;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=56.86;MQRankSum=-7.226;QD=4.72;ReadPosRankSum=0.758;SOR=0.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:138,22:160:90:.:.:90,0,5238:.	3	0	16	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4737	27506.3	251	chr3	75736891	.	G	A	27506.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.556;DP=2799;ExcessHet=38.2876;FS=3.537;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=56.93;MQRankSum=-8.927;QD=10.38;ReadPosRankSum=0.96;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,55:164:99:0|1:75736891_G_A:1860,0,4328:75736891	1	0	18	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4737	25918.3	252	chr3	75736920	.	C	A	25918.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.21;DP=2877;ExcessHet=38.2876;FS=2.773;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=55.14;MQRankSum=-8.054;QD=9.41;ReadPosRankSum=0.484;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,56:174:99:0|1:75736920_C_A:1996,0,4766:75736920	1	0	18	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4737	25991.3	253	chr3	75736928	.	C	T	25991.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=2.3;DP=2931;ExcessHet=38.2876;FS=1.988;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.62;MQRankSum=-7.88;QD=9.33;ReadPosRankSum=-0.059;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,57:178:99:0|1:75736920_C_A:2029,0,4909:75736920	1	0	18	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4444	14961.5	225	chr3	75736981	.	T	C	14961.5	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-1.026;DP=2892;ExcessHet=25.4433;FS=1.222;InbreedingCoeff=-0.7673;MLEAC=17;MLEAF=0.472;MQ=52.48;MQRankSum=-7.191;QD=6.18;ReadPosRankSum=-1.421;SOR=0.789	GT:AD:DP:GQ:PL	0/1:113,48:161:99:1060,0,3451	2	0	16	1
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4722	20724.0	217	chr3	75737012	.	C	T	20724.0	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-0.958;DP=3072;ExcessHet=31.086;FS=0.559;InbreedingCoeff=-0.8551;MLEAC=18;MLEAF=0.5;MQ=53.49;MQRankSum=-5.15;QD=7.81;ReadPosRankSum=-0.189;SOR=0.705	GT:AD:DP:GQ:PL	0/1:109,41:150:99:962,0,3665	1	0	17	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	30914.3	256	chr3	75737060	.	A	G	30914.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.825;DP=3492;ExcessHet=48.2876;FS=0.535;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.88;MQRankSum=-5.378;QD=9.11;ReadPosRankSum=0.644;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,66:173:99:.:.:1554,0,3611:.	0	0	19	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	52412.4	280	chr3	75737092	.	C	T	52412.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.868;DP=3617;ExcessHet=48.2876;FS=2.51;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.44;MQRankSum=-8.725;QD=14.68;ReadPosRankSum=2.04;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,77:187:99:0|1:75737092_C_T:2882,0,4387:75737092	0	0	19	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	52218.4	279	chr3	75737094	.	T	A	52218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.675;DP=3606;ExcessHet=48.2876;FS=2.513;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.56;MQRankSum=-8.714;QD=14.56;ReadPosRankSum=1.95;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,76:187:99:0|1:75737092_C_T:2857,0,4432:75737092	0	0	19	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	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	51218.4	275	chr3	75737105	.	T	A	51218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.193;DP=3583;ExcessHet=48.2876;FS=3.337;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.97;MQRankSum=-9.931;QD=14.38;ReadPosRankSum=1.42;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,76:185:99:0|1:75737092_C_T:2863,0,4348:75737092	0	0	19	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	45019.4	258	chr3	75737127	.	A	C	45019.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.02;DP=3367;ExcessHet=48.2876;FS=6.221;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.5;MQRankSum=-10.9;QD=13.47;ReadPosRankSum=1.25;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,69:164:99:0|1:75737092_C_T:2611,0,3781:75737092	0	0	19	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	28213.3	184	chr3	75737163	.	CCTACATTCT	C	28213.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.052;DP=2750;ExcessHet=48.2876;FS=12.118;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.71;MQRankSum=-10.76;QD=10.38;ReadPosRankSum=-0.785;SOR=1.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,61:142:99:0|1:75737092_C_T:2318,0,3199:75737092	0	0	19	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A,ZNF717:NM_001290208:exon5:c.A2395G:p.T799A,ZNF717:NM_001290209:exon5:c.A2245G:p.T749A	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	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	.	.	.	.	.	.	.	.	0.3158	2269.04	121	chr3	75737228	.	T	C	2269.04	.	AC=12;AF=0.316;AN=38;BaseQRankSum=2.66;DP=2050;ExcessHet=11.1788;FS=19.091;InbreedingCoeff=-0.4377;MLEAC=11;MLEAF=0.289;MQ=57.49;MQRankSum=-8.916;QD=1.88;ReadPosRankSum=-2.183;SOR=2.321	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:73,17:90:99:.:.:454,0,2939:.	7	0	12	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	72208.4	197	chr3	75737519	.	G	A	72208.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.695;DP=3883;ExcessHet=48.2876;FS=4.051;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.16;MQRankSum=-6.49;QD=19.68;ReadPosRankSum=0.126;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,113:193:99:.:.:4386,0,2874:.	0	0	19	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	80980.4	254	chr3	75737590	.	A	G	80980.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.318;DP=4255;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.17;MQRankSum=-12.03;QD=19.35;ReadPosRankSum=0.753;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,121:231:99:0|1:75737590_A_G:4695,0,4255:75737590	0	0	19	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	87211.4	273	chr3	75737608	.	T	C	87211.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.532;DP=4453;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.93;MQRankSum=-13.33;QD=19.71;ReadPosRankSum=0.507;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,125:246:99:0|1:75737590_A_G:4884,0,4704:75737590	0	0	19	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	89860.4	289	chr3	75737622	.	T	A	89860.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.61;DP=4598;ExcessHet=48.2876;FS=0.515;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.36;MQRankSum=-13.02;QD=19.7;ReadPosRankSum=-0.634;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,128:250:99:0|1:75737590_A_G:5007,0,4737:75737590	0	0	19	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	88261.4	293	chr3	75737651	.	G	A	88261.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.6;DP=4568;ExcessHet=48.2876;FS=0.521;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.19;MQRankSum=-11.6;QD=19.54;ReadPosRankSum=-0.826;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,133:260:99:0|1:75737590_A_G:5202,0,4932:75737590	0	0	19	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	82829.4	287	chr3	75737676	.	A	T	82829.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.8;DP=4351;ExcessHet=48.2876;FS=2.445;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-9.984;QD=19.33;ReadPosRankSum=0.013;SOR=0.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,120:247:99:0|1:75737590_A_G:4656,0,4971:75737590	0	0	19	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	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	.	.	.	.	.	.	.	.	0.4722	46731.8	276	chr3	75737840	.	C	T	46731.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.149;DP=4419;ExcessHet=31.086;FS=11.167;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=58.89;MQRankSum=-4.862;QD=12.26;ReadPosRankSum=-0.338;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,90:237:99:0|1:75737814_C_T:3223,0,5617:75737814	1	0	17	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	22517.3	279	chr3	75737881	.	T	C	22517.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.903;DP=3953;ExcessHet=38.2876;FS=17.658;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.41;MQRankSum=-7.695;QD=6.2;ReadPosRankSum=-4.196;SOR=1.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,48:204:99:0|1:75737881_T_C:1390,0,6242:75737881	1	0	18	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	17868.3	263	chr3	75737891	.	G	GAAAT	17868.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.54;DP=3685;ExcessHet=38.2876;FS=22.758;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.24;MQRankSum=-9.11;QD=5.14;ReadPosRankSum=-4.094;SOR=1.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,38:191:99:0|1:75737881_T_C:1133,0,6310:75737881	1	0	18	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	16790.3	259	chr3	75737893	.	A	ACTT	16790.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.064;DP=3615;ExcessHet=38.2876;FS=25.647;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.16;MQRankSum=-9.235;QD=4.92;ReadPosRankSum=-3.238;SOR=2.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,37:190:99:0|1:75737881_T_C:1093,0,6313:75737881	1	0	18	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3889	5464.78	121	chr3	75739165	.	C	T	5464.78	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.906;DP=2470;ExcessHet=17.0548;FS=18.205;InbreedingCoeff=-0.6172;MLEAC=14;MLEAF=0.389;MQ=56.72;MQRankSum=-8.722;QD=3.04;ReadPosRankSum=-1.272;SOR=1.252	GT:AD:DP:GQ:PL	0/1:97,18:117:99:220,0,3022	4	0	14	1
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4737	11257.3	145	chr3	75739283	.	G	T	11257.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.77;DP=1751;ExcessHet=38.2876;FS=0.577;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.65;MQRankSum=-4.905;QD=6.85;ReadPosRankSum=0.657;SOR=0.786	GT:AD:DP:GQ:PL	0/1:58,33:91:99:599,0,1824	1	0	18	0
chr3	97876101	97876101	T	A	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.T4907A:p.V1636E	.	550	963	7	2	0	11	0.00567888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	0.0015368	40	26028	rs563227058	0.0019	0.0014	0.0020	0.0019	0.0058	0.0019	0.0019	0.0037	0.0031	0.0003	0.0010	0.0025	0	4.646e-05	0.0058	0.0021	0.0026	0.0008	0.0014	0.0014	0.0015	0.0013	0.0023	0.0012	0.0012	0.0020	0.0018	0.0005	0	0.0010	0.0032	0	0	0.0136	0.0023	0.0014	0.0006	.	.	.	0.518	0.10536	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	.	.	.	.	.	.	.	0.082324326	0.13574	T	.	.	.	.	.	.	.	0.511390160789	0.50780	0.018251165105256286	0.01779	.	.	.	.	.	0.006785	0.06218	T	-0.352112	0.04595	T	-0.283488	0.46446	T	.	.	.	0.283372	0.04986	T	0.2454906	0.47508	0.42236373	0.66140	0.2454906	0.47508	0.42236373	0.66140	-6.021	0.46455	T	.	.	0.155	0.34361	B	.	.	0.785365	0.11556	8.151	0.69355214578720015	0.08946	0.05428	0.11301	N	AEFBI	.	.	.	.	.	.	.	.	.	6.40570740953169E-5	0.04366	0.162113	0.03585	0	0.195528	0.04277	0	0.183335	0.04453	0	0.24566	0.04862	0	0.173009	0.29061	4.69	-0.601	0.11054	0.026000	0.13490	-0.205000	0.10907	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.082000	0.17360	0.0:0.3364:0.0:0.6636	8.498	0.32299	798	0.45050	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	3251.33	41	chr3	97876101	.	T	A	3251.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.03;DP=2547;ExcessHet=0;FS=2.35;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=0.39;SOR=0.881	GT:AD:DP:GQ:PL	0/1:104,110:214:99:3265,0,2943	18	0	1	0
chr3	99790960	99790960	T	C	exonic	COL8A1	.	nonsynonymous SNV	COL8A1:NM_020351:exon3:c.T278C:p.I93T,COL8A1:NM_001850:exon4:c.T278C:p.I93T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0464175628527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.534e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.024	0.56640	D	0.002	0.09854	B	0.007	0.12992	B	0.626423	0.05786	N	1.175870	0.998827	0.21877	N	1.5	0.37844	L	-2.79	0.91019	D	-4.27	0.76254	D	0.444	0.48227	-0.6140	0.64238	T	0.561	0.84031	D	10	0.18345827	0.33673	T	0.046418	0.62447	D	0.239	0.54358	0.357	0.35897	0.924347348687	0.92358	0.366193068856577	0.36533	0.285142599056	0.30925	0.492204546928	0.37745	T	0.095194	0.53627	T	0.0488784	0.58199	T	-0.167566	0.57666	T	0.802636981010437	0.46533	D	0.765923	0.40508	T	0.12284405	0.28857	0.0740384	0.16153	0.12284405	0.28857	0.0740384	0.16153	-4.304	0.28232	T	.	.	0.398	0.59970	A	.;.;.;.	.;.;.;.	3.398026	0.47076	22.4	0.99758335663458786	0.84851	0.91648	0.53968	D	AEBCI	0.380408	0.46306	N	-0.289187463698073	0.29565	1.640657	-0.0947472757979899	0.35606	2.062034	0.99999992535184	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.86	5.86	0.93936	5.505000	0.66698	5.012000	0.46677	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.197	0.65220	290	0.88477	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1765	676.44	33	chr3	99790960	.	T	C	676.44	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-2.432;DP=2376;ExcessHet=2.0135;FS=86.712;InbreedingCoeff=-0.2304;MLEAC=7;MLEAF=0.206;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=0.172;SOR=11.394	GT:AD:DP:GQ:PL	0/1:94,29:123:99:266,0,2027	11	0	6	2
chr3	101852898	101852898	C	G	exonic	NFKBIZ	.	nonsynonymous SNV	NFKBIZ:NM_031419:exon4:c.C473G:p.T158R,NFKBIZ:NM_001005474:exon5:c.C173G:p.T58R	.	431	1083	8	0	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.025466746736	0.0002	.	0.0006	0.0002	8.637e-05	0	0	0.0003	0.0011	0.0028	0.0004592	71	154602	rs200501545	0.0003	0.0003	0.0002	0.0004	0.0028	0.0003	0.0003	0.0025	0.0024	0	0.0002	0	5.038e-05	1.872e-05	0.0026	0.0002	0.0005	0.0028	0.0003	0.0003	0.0001	0.0004	0.0025	0.0002	0.0002	0.0014	0.0011	4.815e-05	0	0.0008	0	0.0002	0	0.0034	0.0002	0.0005	0.0025	0.014	0.56456	D	0.02	0.59732	D	0.045	0.31412	B	0.045	0.24526	B	0.222627	0.16102	N	0.627172	0.999906	0.19694	N	1.59	0.40313	L	0.55	0.55439	T	-0.57	0.62747	N	0.346	0.38746	-1.0344	0.19046	T	0.074	0.29865	T	10	0.005786538	0.00129	T	0.025467	0.48437	D	0.157	0.40909	.	.	0.387796008065	0.38391	0.40951504944090567	0.40867	0.30562062205	0.32864	0.29991799593	0.10389	T	0.188919	0.54297	T	-0.400702	0.02291	T	-0.352972	0.38864	T	0.0180281534868893	0.00527	T	0.760524	0.38496	T	0.10958825	0.25909	0.11487651	0.27730	0.10958825	0.25909	0.11487651	0.27730	-4.245	0.29598	T	.	.	0.177	0.46401	B	.;.;.;.;.	.;.;.;.;.	1.559149	0.19974	14.53	0.89784635165409099	0.19099	0.33219	0.24775	N	AEFDBCI	0.171200	0.29815	N	-0.695533902895842	0.16148	0.8201956	-0.666914051830135	0.17790	0.9475198	0.999999594075001	0.74766	0.489673	0.17934	0	0.516746	0.08562	0	0.575934	0.27490	0	0.662433	0.64102	0	.	.	5.62	2.48	0.29194	1.158000	0.31347	1.461000	0.26681	0.599000	0.40250	0.014000	0.18986	0.010000	0.20010	0.195000	0.21750	0.0:0.4331:0.0:0.5669	5.278	0.14971	875	0.30485	.;.;.;.;.	.	.	.	.	.	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	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.011364	0.02632	1196.33	39	chr3	101852898	.	C	G	1196.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.038;DP=812;ExcessHet=0;FS=1.564;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-1.105;SOR=0.542	GT:AD:DP:GQ:PL	0/1:59,46:105:99:1210,0,1708	18	0	1	0
chr3	113279968	113279968	A	G	exonic	BOC	.	nonsynonymous SNV	BOC:NM_001301861:exon13:c.A2168G:p.D723G,BOC:NM_001378073:exon13:c.A2168G:p.D723G,BOC:NM_001378074:exon13:c.A2168G:p.D723G,BOC:NM_001378075:exon13:c.A2165G:p.D722G,BOC:NM_033254:exon13:c.A2165G:p.D722G	.	.	.	.	.	.	.	.	.	.	.	2369691	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.379	0.0305066140432	0.0005	.	9.237e-05	0	0	0	0	0.0002	0	6.537e-05	9.06e-05	14	154602	rs202019169	0.0002	0.0002	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	8.971e-05	4.486e-05	0	0	3.755e-05	0	0.0003	0.0003	3.484e-05	0.0001	0.0001	0.0002	0.0001	0.0003	9.751e-05	8.264e-05	0.0002	0.0002	2.415e-05	0	6.547e-05	0	0	0	0	0.0003	0	0	0.007	0.59928	D	0.005	0.72224	D	0.987	0.61912	D	0.939	0.67449	D	0.000061	0.53742	D	0.164920	0.999996	0.58761	D	1.59	0.40313	L	0.38	0.57575	T	-3.9	0.72932	D	0.655	0.66529	-0.8141	0.54300	T	0.235	0.60173	T	10	0.56302756	0.64895	D	0.030507	0.52803	D	0.379	0.69696	.	.	0.837931633645	0.83639	0.6218958125947293	0.62122	0.816700282092	0.66967	0.608588218689	0.54115	T	0.480775	0.80962	T	-0.0908259	0.37940	T	-0.131573	0.60839	T	0.417275995016098	0.29590	T	0.922708	0.71908	D	0.7092764	0.78568	0.5404906	0.73443	0.7092764	0.78569	0.5404906	0.73444	-9.345	0.69959	D	.	.	0.705	0.73161	P	.;.;.	.;.;.	4.369789	0.67261	25.1	0.99758621096674738	0.84851	0.97885	0.77862	D	AEFDBHCI	0.881519	0.80896	D	0.35043465186598	0.58761	4.050578	0.330861768495641	0.57359	3.901561	0.999999999999077	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.177118	0.04338	0	0.542086	0.14980	0	.	.	5.53	5.53	0.82530	8.697000	0.91034	11.281000	0.91737	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	1.0:0.0:0.0:0.0	15.648	0.76822	555	0.71762	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1640.33	35	chr3	113279968	.	A	G	1640.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.504;DP=776;ExcessHet=0;FS=2.313;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-1.867;SOR=0.938	GT:AD:DP:GQ:PL	0/1:61,62:123:99:1654,0,1645	18	0	1	0
chr3	114350760	114350760	C	T	exonic	ZBTB20	.	nonsynonymous SNV	ZBTB20:NM_001164342:exon4:c.G1318A:p.E440K,ZBTB20:NM_001164346:exon5:c.G1099A:p.E367K,ZBTB20:NM_001164347:exon5:c.G1099A:p.E367K,ZBTB20:NM_001164345:exon6:c.G1099A:p.E367K,ZBTB20:NM_001164344:exon7:c.G1099A:p.E367K,ZBTB20:NM_001348804:exon9:c.G1099A:p.E367K,ZBTB20:NM_015642:exon9:c.G1099A:p.E367K,ZBTB20:NM_001348802:exon10:c.G1099A:p.E367K,ZBTB20:NM_001348805:exon10:c.G1099A:p.E367K,ZBTB20:NM_001164343:exon11:c.G1099A:p.E367K,ZBTB20:NM_001348800:exon11:c.G1318A:p.E440K,ZBTB20:NM_001348801:exon11:c.G1099A:p.E367K,ZBTB20:NM_001348803:exon13:c.G1318A:p.E440K	Primrose syndrome, Autosomal dominant	427	1046	47	2	0	51	0.0237984	.	.	.	697765	Primrose_syndrome|not_provided|not_specified	MONDO:MONDO:0009798,MedGen:C0796121,OMIM:259050,Orphanet:3042|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.085	.	0.0054	0.00479233	0.0061	0.0013	0.0034	0	0.0005	0.0077	0.0066	0.0099	0.0059249	916	154602	rs138924453	0.0062	0.0062	0.0061	0.0062	0.0192	0.0061	0.0060	0.0163	0.0153	0.0007	0.0052	0.0164	0	0.0009	0.0192	0.0062	0.0075	0.0094	0.0053	0.0053	0.0055	0.0052	0.0108	0.0050	0.0049	0.0094	0.0089	0.0010	0.0033	0.0108	0.0164	0.0002	0.0002	0.0238	0.0071	0.0095	0.0068	0.005	0.65419	D	0.908	0.03074	T	0.0	0.02946	B	0.0	0.01387	B	0.005851	0.32460	N	0.335736	0.999918	0.51042	D	0.805	0.20218	L	2.95	0.09822	T	-0.4	0.13805	N	0.462	0.50056	-1.0342	0.19109	T	0.013	0.04985	T	10	0.0055340827	0.00122	T	.	.	.	0.085	0.24743	.	.	0.273495378476	0.26946	0.35997643831087467	0.35911	1.32069806668	0.83445	0.627004861832	0.56721	T	0.106686	0.41824	T	-0.469568	0.00855	T	-0.440456	0.28757	T	0.0611467036723522	0.07347	T	0.878612	0.59406	D	0.38603228	0.59749	0.32534233	0.58450	0.3285269	0.55350	0.32534233	0.58449	-2.938	0.11102	T	.	.	0.352	0.56715	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.272020	0.44790	22.0	0.99728218537375035	0.82549	0.97136	0.72900	D	AEFBI	0.764290	0.70112	D	0.0161949265100816	0.42593	2.569172	0.22455800224508	0.51212	3.305839	0.999999922502221	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	5.41	5.41	0.78313	7.350000	0.78633	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.198	0.93686	846	0.36215	.;.;.;.;.;.;.	.	.	.	.	.	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	0	0	1	0	0.016113	0.010101	0.023098	0.002924	0.000000	0.008621	0.018293	0.007576	0.05263	5664.83	35	chr3	114350760	.	C	T	5664.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.48;DP=985;ExcessHet=0.119;FS=0.376;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=-0.387;SOR=0.717	GT:AD:DP:GQ:PL	0/1:95,101:196:99:3098,0,2647	17	0	2	0
chr3	121586134	121586134	C	T	exonic	ARGFX	.	nonsynonymous SNV	ARGFX:NM_001012659:exon5:c.C482T:p.T161I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0267640429904	0.0028	0.000599042	0.0019	0.0010	0.0003	0	0.0005	0.0031	0	0.0002	0.0022315	345	154602	rs146404354	0.0042	0.0042	0.0045	0.0039	0.0052	0.0041	0.0040	0.0051	0.0050	0.0005	0.0007	0	0	0.0003	0.0005	0.0052	0.0038	0.0001	0.0024	0.0024	0.0028	0.0019	0.0043	0.0022	0.0021	0.0039	0.0038	0.0008	0	0.0014	0	0	0.0008	0	0.0043	0.0009	0.0002	0.022	0.48642	D	0.026	0.55759	D	0.005	0.12996	B	0.001	0.04355	B	0.002443	0.00888	N	3.135170	1	0.08975	N	1.5	0.37844	L	-2.49	0.89145	D	-1.39	0.34397	N	0.081	0.05670	-0.6588	0.62329	T	0.432	0.77348	T	10	0.006714791	0.00152	T	0.026764	0.49648	D	0.134	0.36365	.	.	0.0611884634855	0.05136	.	.	0.103416740195	0.11694	0.269695729017	0.06102	T	0.012915	0.11266	T	-0.507279	0.00520	T	-0.496882	0.22672	T	0.0044591412858853	0.00048	T	0.444656	0.12411	T	0.040168952	0.05683	0.04170527	0.04802	0.040168952	0.05683	0.04170527	0.04802	-3.85	0.21553	T	.	.	0.099	0.16582	B	.	.	-0.691121	0.01341	0.074	0.94174593556714448	0.24390	0.00845	0.03380	N	AEFBI	0.018505	0.00566	N	-1.43407405907888	0.02345	0.1034406	-1.52516266837558	0.02152	0.09853252	0.00103176442059294	0.08148	0.497415	0.19182	0	0.547309	0.14657	0	0.536957	0.11973	0	0.542086	0.14980	0	.	.	3.56	-3.98	0.03810	-1.351000	0.02729	-3.057000	0.03100	-0.313000	0.06017	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3017:0.2618:0.0:0.4365	3.352	0.06738	355	0.85216	.	.	.	.	.	.	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	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1949.33	34	chr3	121586134	.	C	T	1949.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.441;DP=784;ExcessHet=0;FS=3.374;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=1.16;QD=15.72;ReadPosRankSum=0.381;SOR=0.432	GT:AD:DP:GQ:PL	0/1:54,70:124:99:1963,0,1618	18	0	1	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3824	984.38	130	chr3	121697608	.	C	T	984.38	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-3.025;DP=2253;ExcessHet=13.8672;FS=218.138;InbreedingCoeff=-0.6104;MLEAC=14;MLEAF=0.412;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=0.975;SOR=12.96	GT:AD:DP:GQ:PL	0/1:91,38:150:50:50,0,1741	4	0	13	2
chr3	121781793	121781793	G	A	exonic	IQCB1	.	nonsynonymous SNV	IQCB1:NM_001023571:exon10:c.C961T:p.R321C,IQCB1:NM_001023570:exon13:c.C1360T:p.R454C,IQCB1:NM_001319107:exon13:c.C1360T:p.R454C	Senior-Loken syndrome 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2134879	Nephronophthisis	Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.683	0.109962392981	7.7e-05	0.000199681	1.648e-05	0	0	0	0	1.499e-05	0	6.058e-05	1.94e-05	3	154602	rs374241434	1.574e-05	1.573e-05	1.634e-05	1.513e-05	6.957e-05	1.048e-05	8.75e-06	2.995e-05	2.038e-05	0	0	0	2.521e-05	0	0	1.349e-05	1.656e-05	6.957e-05	1.971e-05	1.969e-05	3.857e-05	0	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.544e-05	0	0	0	0	1.47e-05	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.982	0.75477	D	0.000118	0.50451	D	0.175225	0.999922	0.52396	D	2.505	0.72935	M	-1.32	0.79761	T	-4.79	0.85027	D	0.37	0.50598	0.173	0.85449	D	0.589	0.85277	D	10	0.371924	0.53541	T	0.109962	0.78715	D	0.683	0.88396	.	.	0.966308267856	0.96594	0.5174883186511613	0.51671	0.11491008491	0.12965	0.249932259321	0.03761	T	0.344934	0.71338	T	0.0398559	0.57029	T	0.00100174	0.70402	D	0.931224286556244	0.59645	D	0.787321	0.42620	T	0.52108824	0.68322	0.31201917	0.57206	0.52108824	0.68323	0.31201917	0.57205	-10.25	0.76496	D	0.4616532142091171	0.54376	0.115	0.25265	B	.;.	.;.	5.195058	0.87139	29.1	0.99919357980789159	0.98654	0.86362	0.45627	D	AEFDBI	0.335807	0.43413	N	0.504512873356407	0.67357	5.070735	0.436919973692919	0.63881	4.630968	0.209608178145255	0.18222	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.61	3.74	0.42108	4.428000	0.59641	4.319000	0.42992	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.1029:0.0:0.8971:0.0	8.760	0.33827	639	0.64210	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	129.33	44	chr3	121781793	.	G	A	129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.236;DP=901;ExcessHet=0;FS=84.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=1.12;SOR=6.592	GT:AD:DP:GQ:PL	0/1:97,26:123:99:143,0,2111	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	2855.05	66	chr3	128055734	.	T	C	2855.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.098;DP=1413;ExcessHet=25.4433;FS=109.351;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.13;SOR=11.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,25:76:99:.:.:297,0,1183:.	3	0	16	0
chr3	129034216	129034216	G	A	exonic	EFCC1	.	nonsynonymous SNV	EFCC1:NM_001377500:exon5:c.G1339A:p.G447S,EFCC1:NM_024768:exon5:c.G1336A:p.G446S	.	.	.	.	.	.	.	.	.	.	.	2211927	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.033	0.0111173278485	.	0.000199681	4.944e-05	0	0	0	0.0002	5.997e-05	0	6.056e-05	4.53e-05	7	154602	rs567338824	7.456e-05	7.456e-05	7.759e-05	7.15e-05	8.363e-05	6.315e-05	5.873e-05	6.959e-05	6.454e-05	0	0	0	0	7.488e-05	0	8.363e-05	8.279e-05	8.115e-05	5.251e-05	5.249e-05	3.854e-05	6.711e-05	0.0002	2.555e-05	1.828e-05	1.972e-05	1.124e-05	2.406e-05	0	6.53e-05	0	0	9.413e-05	0	5.88e-05	0	0.0002	.	.	.	1.0	0.01155	T	0.168	0.28654	B	0.032	0.22131	B	0.313955	0.04032	N	1.493250	1	0.08975	N	0.38	0.12130	N	.	.	.	.	.	.	0.09	0.06854	-1.0282	0.21038	T	0.054	0.22731	T	10	0.025031328	0.00710	T	0.011117	0.28415	T	0.033	0.08068	0.298	0.26362	0.0138822411134	0.00435	0.07400098099341103	0.07337	.	.	0.250974923372	0.03871	T	5.78E-4	0.00232	T	-0.448054	0.01159	T	-0.644706	0.09329	T	0.0299891568720341	0.01988	T	0.511749	0.16382	T	0.03150005	0.03000	0.046562962	0.06516	0.03150005	0.03000	0.046562962	0.06516	-3.505	0.16501	T	.	.	0.072	0.04198	B	.	.	0.190460	0.05766	2.210	0.47550955130232181	0.03897	0.00799	0.03256	N	AEFDBI	0.045842	0.07542	N	-1.38888845535807	0.02741	0.1214899	-1.49851322345166	0.02357	0.1082687	0.99972397590897	0.42220	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.47	-6.32	0.01820	0.116000	0.15393	-0.050000	0.12557	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3134:0.1346:0.552:0.0	7.257	0.25356	602	0.67834	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	159.33	33	chr3	129034216	.	G	A	159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.476;DP=737;ExcessHet=0;FS=79.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.45;ReadPosRankSum=-0.278;SOR=6.183	GT:AD:DP:GQ:PL	0/1:89,21:110:99:173,0,2152	18	0	1	0
chr3	130421334	130421334	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5011C:p.G1671R,COL6A5:NM_153264:exon27:c.G5011C:p.G1671R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.797	0.164375721412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.145e-06	2.052e-06	0	4.35e-06	2.783e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.783e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.745532	0.33870	D	.	.	.	-6.29	0.99632	D	-5.91	0.88904	D	0.939	0.94550	1.094	0.99422	D	0.984	0.99521	D	9	0.9844847	0.98645	D	0.164376	0.84350	D	0.797	0.93346	0.939	0.99156	0.586235444834	0.58297	0.9414209663944619	0.94123	0.243824273026	0.26889	0.697831511497	0.66831	T	0.415688	0.76886	T	0.521084	0.94919	D	0.510724	0.94844	D	0.997076034545898	0.90711	D	0.905809	0.66782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.80266	P	.	.	5.150285	0.86261	28.9	0.99794094919957821	0.87928	0.95070	0.63328	D	AEFBI	0.711476	0.66491	D	0.700525877457095	0.79667	7.126234	0.630267782049677	0.77149	6.623992	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	0.950000	0.49671	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1053	540.41	48	chr3	130421334	.	G	C	540.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-3.412;DP=894;ExcessHet=2.0135;FS=255.487;InbreedingCoeff=-0.1841;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=2.23;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,10:52:99:0|1:130421334_G_C:217,0,1655:130421334	15	0	4	0
chr3	130421335	130421335	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012C:p.G1671A,COL6A5:NM_153264:exon27:c.G5012C:p.G1671A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2188	5712.42	63	chr3	130421335	.	G	C	5712.42	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-0.729;DP=1224;ExcessHet=20.8569;FS=266.52;InbreedingCoeff=-0.7674;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=1.91;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,10:52:99:0|1:130421334_G_C:217,0,1655:130421334	9	0	7	3
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L,COL6A5:NM_153264:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4062	6329.56	63	chr3	130421337	.	T	C	6329.56	.	AC=13;AF=0.406;AN=32;BaseQRankSum=0.201;DP=1213;ExcessHet=25.4433;FS=261.259;InbreedingCoeff=-0.8537;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=6.15;ReadPosRankSum=1.66;SOR=10.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,10:52:99:0|1:130421334_G_C:217,0,1655:130421334	3	0	13	3
chr3	133811164	133811164	G	C	exonic	SRPRB	.	nonsynonymous SNV	SRPRB:NM_001379313:exon4:c.G375C:p.R125S,SRPRB:NM_021203:exon5:c.G375C:p.R125S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	0.0395363560954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	4.788e-06	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.059867	0.22291	N	0.419105	0.999998	0.58761	D	2.7	0.79018	M	1.67	0.27331	T	-5.99	0.89401	D	0.975	0.98563	-0.9814	0.34678	T	0.142	0.46386	T	10	0.9769599	0.97506	D	0.039536	0.58866	D	0.365	0.68495	0.885	0.97081	0.513448892127	0.50984	0.6556272041057072	0.65498	0.850424933985	0.68512	0.70716047287	0.68180	T	0.301519	0.67397	T	0.214912	0.75294	D	0.0709292	0.74972	D	0.98602956533432	0.76852	D	0.926607	0.72946	D	0.7467684	0.80681	0.6180993	0.77761	0.7467684	0.80682	0.6180993	0.77762	-14.899	0.95611	D	.	.	0.993	0.94496	P	.	.	4.289479	0.65400	24.8	0.99740139576912379	0.83409	0.92031	0.54792	D	AEFBI	0.540829	0.55723	D	0.357132536362098	0.59118	4.088559	0.289358020393427	0.54918	3.65547	0.877412702490473	0.25545	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	2.24	0.27264	0.441000	0.21325	2.252000	0.31695	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.2987:0.0:0.7013:0.0	7.683	0.27690	817	0.41665	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1071	99.18	152	chr3	133811164	.	G	C	99.18	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-3.731;DP=2066;ExcessHet=0.3672;FS=124.298;InbreedingCoeff=-0.1832;MLEAC=4;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=1.55;SOR=9.419	GT:AD:DP:GQ:PL	0/1:144,27:171:24:24,0,4933	11	0	3	5
chr3	138223423	138223423	A	G	exonic	ARMC8	.	nonsynonymous SNV	ARMC8:NM_001282342:exon3:c.A103G:p.T35A,ARMC8:NM_001267041:exon4:c.A229G:p.T77A,ARMC8:NM_001267042:exon4:c.A229G:p.T77A,ARMC8:NM_001363941:exon4:c.A229G:p.T77A,ARMC8:NM_001363942:exon4:c.A103G:p.T35A,ARMC8:NM_014154:exon5:c.A187G:p.T63A,ARMC8:NM_015396:exon5:c.A187G:p.T63A,ARMC8:NM_213654:exon5:c.A187G:p.T63A	.	437	1058	26	1	0	28	0.0130597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0020	0.00379393	0.0028	0.0003	0.0023	0	0.0003	0.0022	0.0011	0.0098	0.0026714	413	154602	rs146088572	0.0023	0.0023	0.0021	0.0026	0.0116	0.0023	0.0022	0.0094	0.0092	0.0004	0.0030	0.0009	0	0.0001	0.0116	0.0019	0.0029	0.0099	0.0019	0.0019	0.0017	0.0021	0.0116	0.0017	0.0017	0.0092	0.0083	0.0005	0.0022	0.0033	0.0003	0	0.0003	0.0136	0.0022	0.0028	0.0116	0.514	0.07449	T	0.614	0.22962	T	0.012	0.17989	B	0.014	0.20792	B	0.000295	0.46274	D	0.232973	0.988438	0.40763	D	0	0.06538	N	1.36	0.34452	T	-1.12	0.30555	N	0.258	0.30574	-1.0731	0.08745	T	0.038	0.16462	T	10	0.007252604	0.00165	T	.	.	.	0.019	0.03383	.	.	0.196089822672	0.19227	0.15376029250558546	0.15298	0.642605149853	0.57820	0.557981133461	0.46983	T	0.040801	0.25649	T	-0.530853	0.00380	T	-0.528061	0.19480	T	0.0257044843958931	0.01366	T	0.832517	0.50622	T	0.058245815	0.11693	0.07300166	0.15813	0.058245815	0.11693	0.07300166	0.15812	-4.419	0.38190	T	.	.	0.062	0.01762	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	2.555694	0.33087	19.24	0.94680712454225624	0.25314	0.90946	0.52562	D	AEFGBI	0.245310	0.36627	N	-0.201161614229716	0.33086	1.873	0.0454931421428507	0.41854	2.521533	0.999996554470424	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	2.417000	0.44307	11.243000	0.90488	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.268	0.65679	435	0.80441	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.010574	0.000000	0.012228	0.008772	0.000000	0.000000	0.012195	0.018939	0.05263	1840.83	36	chr3	138223423	.	A	G	1840.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.796;DP=761;ExcessHet=0.119;FS=8.863;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.811;SOR=0.293	GT:AD:DP:GQ:PL	0/1:50,46:96:99:1086,0,1389	17	0	2	0
chr3	149186675	149186675	G	A	exonic	CP	.	nonsynonymous SNV	CP:NM_000096:exon11:c.C1922T:p.S641L	Cerebellar ataxia, Autosomal recessive;Hemosiderosis, systemic, due to aceruloplasminemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1445641	Inborn_genetic_diseases|Deficiency_of_ferroxidase	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0025498,MONDO:MONDO:0011426,MedGen:C0878682,OMIM:604290,Orphanet:48818	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.343	0.158256372874	.	.	6.59e-05	0	0	0.0001	0	0.0001	0	0	5.17e-05	8	154602	rs758412535	1.094e-05	1.094e-05	5.445e-06	1.65e-05	0.0002	6.48e-06	5.24e-06	5.75e-06	4.55e-06	0	0	0	2.519e-05	0	0.0002	1.079e-05	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.226	0.29740	T	.	.	.	.	.	.	0.074327	0.21291	N	0.518405	1	0.08975	N	.	.	.	-6.59	0.99734	D	-2.49	0.54864	N	0.161	0.16864	0.880	0.95409	D	0.928	0.97635	D	10	0.20345509	0.36501	T	0.158256	0.83869	D	0.343	0.66488	.	.	0.851967921838	0.85054	0.7092465032520435	0.70866	0.0873131275209	0.09842	0.318350762129	0.13171	T	0.034671	0.23413	T	-0.0797004	0.39763	T	-0.160578	0.58300	T	0.0525412611679216	0.05941	T	0.806319	0.45525	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.08997	B	.;.	.;.	2.086341	0.26537	17.15	0.98920414240902499	0.48546	0.10358	0.15887	N	AEFGBCIJ	0.371043	0.45719	N	-0.612801685938015	0.18559	0.9644861	-0.537690453193134	0.21132	1.141814	0.980907037576806	0.30192	0.487112	0.14033	0	0.573888	0.26702	0	0.536957	0.11973	0	0.613276	0.41899	0	.	.	5.81	3.99	0.45527	1.265000	0.32629	0.976000	0.23092	0.618000	0.50648	0.008000	0.17931	0.000000	0.08366	0.948000	0.49324	0.1491:0.0:0.716:0.1349	7.648	0.27501	903	0.23940	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1914.33	34	chr3	149186675	.	G	A	1914.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=827;ExcessHet=0;FS=1.203;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-0.306;SOR=0.571	GT:AD:DP:GQ:PL	0/1:100,73:173:99:1928,0,2465	18	0	1	0
chr3	149527888	149527888	T	A	exonic	WWTR1	.	nonsynonymous SNV	WWTR1:NM_001168280:exon5:c.A853T:p.T285S,WWTR1:NM_015472:exon5:c.A853T:p.T285S,WWTR1:NM_001168278:exon6:c.A853T:p.T285S,WWTR1:NM_001348362:exon8:c.A853T:p.T285S	.	427	1016	74	5	0	84	0.0396975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	.	0.0048	0.0195687	0.0145	0.0044	0.0047	0.0013	0.0020	0.0079	0.0088	0.0668	0.0130529	2018	154602	rs28763914	0.0095	0.0095	0.0078	0.0113	0.0648	0.0094	0.0093	0.0633	0.0628	0.0043	0.0057	0.0320	0.0009	0.0018	0.0288	0.0055	0.0118	0.0648	0.0082	0.0083	0.0070	0.0095	0.0685	0.0079	0.0077	0.0624	0.0600	0.0045	0	0.0105	0.0334	0.0012	0.0009	0.0340	0.0061	0.0099	0.0685	1.0	0.00964	T	1.0	0.03945	T	0.0	0.02946	B	0.001	0.04355	B	0.189626	0.16881	N	0.622461	0.945773	0.26651	N	0.405	0.12330	N	1.05	0.39990	T	0.6	0.02853	N	0.277	0.32481	-1.0210	0.23389	T	0.025	0.10866	T	10	0.0015960932	0.00018	T	.	.	.	0.114	0.32008	0.065	0.00293	.	.	0.290718380610075	0.28984	0.42995996695	0.43261	0.481068134308	0.36204	T	0.214331	0.57588	T	-0.644689	0.00078	T	-0.650148	0.08944	T	0.0179148183194432	0.00518	T	0.476852	0.14330	T	0.07942054	0.18144	0.04499123	0.05953	0.07942054	0.18143	0.04499123	0.05953	-4.436	0.30042	T	0.1702844105836142	0.21400	0.074	0.10545	B	.;.;.;.	.;.;.;.	2.307038	0.29529	18.15	0.87434686040373133	0.17225	0.89995	0.50835	D	ALL	0.790365	0.71928	D	-0.400604213907978	0.25447	1.381	-0.180672069225818	0.32247	1.832765	0.999999999898381	0.74766	0.758104	0.99027	0	0.588066	0.40923	0	0.691618	0.62860	0	0.648885	0.59868	0	.	.	5.09	3.92	0.44525	2.685000	0.46626	3.438000	0.38361	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0762:0.1435:0.7804	7.488	0.26617	695	0.58372	.;.;.;.	.	.	.	.	.	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	0.019134	0.000000	0.012228	0.029240	0.000000	0.000000	0.015244	0.041667	0.05263	1029.83	34	chr3	149527888	.	T	A	1029.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.702;DP=701;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=1.21;SOR=0.638	GT:AD:DP:GQ:PL	0/1:37,26:63:99:580,0,872	17	0	2	0
chr3	160404347	160404347	T	C	exonic	SMC4	.	nonsynonymous SNV	SMC4:NM_005496:exon4:c.T530C:p.V177A,SMC4:NM_001002800:exon5:c.T530C:p.V177A,SMC4:NM_001288753:exon5:c.T455C:p.V152A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0229069441454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0054	0.0001	0.0001	0.0001	9.927e-05	9.386e-05	0.0001	0.0001	9.415e-05	0	3.915e-05	7.617e-05	0	0	0.0001	8.551e-05	2.42e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.032	0.54934	D	0.992	0.64738	D	0.91	0.64641	D	0.000001	0.62929	D	0.056395	1	0.81001	D	2.34	0.67151	M	2.91	0.55945	T	-3.7	0.71157	D	0.795	0.79214	-0.4533	0.70291	T	0.329	0.69682	T	9	0.70917594	0.72932	D	0.022907	0.45838	T	0.278	0.59497	0.521	0.62368	0.709883084589	0.70734	0.460518375338523	0.45969	0.58308373772	0.54039	0.600413441658	0.52963	T	0.47436	0.80584	T	0.112874	0.65647	D	-0.0756403	0.65220	T	0.978100121021271	0.72158	D	0.926107	0.81930	D	0.41292104	0.61618	0.4092579	0.65219	0.41292104	0.61618	0.4092579	0.65219	-9.197	0.69057	D	.	.	0.198	0.63267	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.808997	0.78220	26.9	0.99886819405452432	0.96204	0.99167	0.92217	D	AEFDGBIJ	0.937139	0.93449	D	0.746699790061011	0.82689	7.825052	0.770386729956323	0.87669	9.303158	0.999999999999999	0.74766	0.736574	0.97449	0	0.672317	0.65289	0	0.732669	0.93749	0	0.273489	0.05413	2	.	.	6.16	6.16	0.99302	7.982000	0.87742	7.911000	0.74030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.806	0.85530	744	0.52588	RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;.;.;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, 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	.	.	.	.	.	.	.	.	0.1053	225.45	46	chr3	160404347	.	T	C	225.45	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-3.497;DP=1041;ExcessHet=0.7564;FS=160.418;InbreedingCoeff=-0.1181;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=1.42;SOR=9	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,12:73:40:0|1:160404346_G_C:40,0,2177:160404346	15	0	4	0
chr3	161068925	161068925	T	C	exonic	PPM1L	.	nonsynonymous SNV	PPM1L:NM_001317911:exon4:c.T470C:p.I157T,PPM1L:NM_139245:exon4:c.T851C:p.I284T,PPM1L:NM_001317912:exon5:c.T314C:p.I105T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.0436217201411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.878	0.50336	P	0.608	0.51027	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.12	0.58754	M	2.25	0.17761	T	-4.15	0.79659	D	0.678	0.68516	-1.1273	0.01916	T	0.066	0.27191	T	10	0.6439785	0.69218	D	0.043622	0.61079	D	0.577	0.82912	0.704	0.84054	0.650668676097	0.64777	0.8388446482165836	0.83844	2.01238709721	0.93922	0.905140817165	0.96991	D	0.313357	0.68511	T	0.221	0.75880	D	0.0798186	0.75566	D	0.992237508296967	0.82666	D	0.891311	0.62583	D	0.6733357	0.76612	0.6091006	0.77266	0.6733357	0.76613	0.6091006	0.77267	-4.557	0.33730	T	.	.	0.585	0.74595	P	.;.;.	.;.;.	5.025566	0.83546	28.1	0.99815374877051022	0.89885	0.92371	0.55557	D	AEFGBCI	0.889530	0.82370	D	0.536545949963569	0.69268	5.332724	0.565857426673158	0.72508	5.820885	0.999999998598625	0.74766	0.615465	0.37627	0	0.491513	0.07743	0	0.658983	0.55881	0	0.52698	0.09003	0	.	.	5.19	5.19	0.71428	7.650000	0.82668	7.891000	0.73051	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	14.226	0.65405	643	0.63827	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase 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	.	.	.	.	.	.	.	.	0.02632	1620.33	35	chr3	161068925	.	T	C	1620.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.068;DP=801;ExcessHet=0;FS=1.254;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-1.565;SOR=0.689	GT:AD:DP:GQ:PL	0/1:87,70:157:99:1634,0,2348	18	0	1	0
chr3	169143748	169143748	C	A	exonic	MECOM	.	nonsynonymous SNV	MECOM:NM_001105077:exon3:c.G88T:p.A30S,MECOM:NM_001366466:exon3:c.G460T:p.A154S,MECOM:NM_001366473:exon3:c.G460T:p.A154S,MECOM:NM_004991:exon3:c.G460T:p.A154S	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Autosomal dominant	436	1039	45	2	0	49	0.0230371	.	.	.	3221779	MECOM-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.161	.	0.0032	0.00678914	0.0047	0.0037	0.0029	0	0.0003	0.0032	0.0168	0.0159	0.0043725	676	154602	rs116535717	0.0030	0.0030	0.0025	0.0035	0.0203	0.0029	0.0029	0.0173	0.0162	0.0041	0.0026	0.0066	5.06e-05	7.505e-05	0.0203	0.0020	0.0041	0.0157	0.0040	0.0040	0.0037	0.0044	0.0170	0.0038	0.0037	0.0140	0.0129	0.0035	0.0581	0.0051	0.0104	0.0004	9.427e-05	0.0136	0.0029	0.0057	0.0170	0.003	0.68238	D	0.133	0.37449	T	0.548	0.38076	P	0.089	0.29769	B	.	.	.	.	0.529527	0.81001	D	.	.	.	2.93	0.76948	T	-1.11	0.31778	N	0.623	0.63798	-0.4302	0.71060	T	0.301	0.67195	T	9	0.007782936	0.00177	T	.	.	.	0.161	0.41658	.	.	0.597383033342	0.59418	0.343292361843405	0.34242	0.922736141103	0.71521	0.65283703804	0.60388	T	.	.	.	-0.282396	0.10415	T	-0.165445	0.57859	T	0.0180087818442308	0.00525	T	0.817418	0.47426	T	0.17458437	0.38271	0.17883569	0.40579	0.18525617	0.39879	0.21110153	0.45524	-7.376	0.56735	T	.	.	0.138	0.30264	B	.;.	.;.	4.257225	0.64674	24.7	0.99621839617057428	0.75473	0.97359	0.74250	D	AEFDBI	0.833764	0.75192	D	0.30786349462989	0.56551	3.820003	0.420312686123832	0.62833	4.505449	0.999999999992753	0.74766	0.627647	0.40530	0	0.59043	0.45803	0	0.563428	0.18855	0	0.657601	0.63696	0	.	.	6.07	6.07	0.98675	5.602000	0.67298	7.728000	0.67649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:1.0:0.0:0.0	20.659	0.99629	714	0.56256	.;SET domain|SET domain	.	.	.	.	.	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	0	0	1	0	0.019637	0.010101	0.023098	0.014620	0.000000	0.008621	0.018293	0.018939	0.05263	1919.83	33	chr3	169143748	.	C	A	1919.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.11;DP=804;ExcessHet=0.119;FS=1.125;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=0.839;SOR=0.815	GT:AD:DP:GQ:PL	0/1:77,41:118:99:1064,0,1889	17	0	2	0
chr3	171688875	171688875	A	C	exonic	PLD1	.	nonsynonymous SNV	PLD1:NM_001130081:exon14:c.T1340G:p.V447G,PLD1:NM_002662:exon14:c.T1340G:p.V447G	.	.	.	.	.	.	.	.	0.7886	0.434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.779	0.0790179036906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	1.368e-06	1.364e-06	1.378e-06	1.161e-05	2.3e-07	9e-08	.	.	0	0	0	0	1.873e-05	0	0	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.73	0.94857	H	1.91	0.23283	T	-6.47	0.91479	D	0.773	0.78356	-0.3950	0.72184	T	0.238	0.60511	T	10	0.8661579	0.85861	D	0.079018	0.73138	D	0.779	0.92623	0.621	0.75576	0.772778510145	0.77069	0.9420857630831782	0.94189	0.598596633043	0.55023	0.648828148842	0.59819	T	0.654551	0.89558	D	0.30126	0.83070	D	0.194963	0.82851	D	0.996987760066986	0.90511	D	0.961804	0.85620	D	0.96209884	0.97490	0.8412763	0.90922	0.96209884	0.97491	0.8412763	0.90923	-16.825	0.98779	D	0.8342700792830291	0.90436	0.941	0.86333	P	.;.	.;.	6.230435	0.94839	34	0.99657499661393489	0.77694	0.97381	0.74389	D	AEFDBHCI	0.949159	0.96151	D	0.899346975589142	0.91727	11.03265	0.805928425759139	0.90203	10.30137	0.999999998604055	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.653264	0.51672	0	0.711	0.71501	0	.	.	5.3	5.3	0.74745	9.287000	0.95066	11.149000	0.87296	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	1.0:0.0:0.0:0.0	15.540	0.75769	958	0.09170	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1571.33	35	chr3	171688875	.	A	C	1571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.569;SOR=0.646	GT:AD:DP:GQ:PL	0/1:67,58:125:99:1585,0,1842	18	0	1	0
chr3	185527573	185527573	G	C	exonic	LIPH	.	nonsynonymous SNV	LIPH:NM_139248:exon4:c.C539G:p.A180G	Hypotrichosis 7, Autosomal recessive;Woolly hair, autosomal recessive 2 with or without hypotrichosis, Autosomal recessive	1	1516	5	0	0	5	0.00164636	.	.	.	2379318	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.938	0.415042497366	7.7e-05	.	0.0002	0	0.0002	0	0	7.493e-05	0.0011	0.0010	0.0001682	26	154602	rs138900382	0.0001	0.0001	0.0001	0.0002	0.0014	0.0001	0.0001	0.0009	0.0008	5.979e-05	0.0002	0	0	0	0.0014	7.298e-05	0.0002	0.0011	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	9.332e-05	0.0007	0.0005	2.433e-05	0	0.0007	0	0	0	0	8.851e-05	0	0.0016	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	4.23	0.97958	H	-3.16	0.92996	D	-3.82	0.71997	D	0.877	0.87481	1.088	0.99168	D	0.941	0.98074	D	10	0.86513126	0.85753	D	0.415042	0.93677	D	0.938	0.98636	.	.	0.997387421742	0.99736	0.9462759170524324	0.94609	0.578496217759	0.53757	0.559158325195	0.47149	T	0.953027	0.99337	D	0.212016	0.75021	D	0.475422	0.94107	D	0.80437034368515	0.46653	D	0.945105	0.79107	D	0.94940066	0.96204	0.91132766	0.95783	0.94940066	0.96205	0.91132766	0.95784	-15.705	0.97285	D	0.8421534748498323	0.91041	0.766	0.75749	P	.	.	5.455530	0.91101	32	0.99815528232338246	0.89885	0.95372	0.64463	D	AEFDBHCI	0.942127	0.94631	D	1.11008586591157	0.98317	17.95384	1.02402831731378	0.99040	20.39454	0.999999999999997	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.565031	0.19037	0	0.542086	0.14980	0	.	.	5.8	5.8	0.92081	9.306000	0.95285	11.835000	0.97647	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	19.030	0.92933	743	0.52768	Lipase/vitellogenin|Lipase, 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	0.002518	0.000000	0.001359	0.000000	0.000000	0.017241	0.003049	0.003788	0.02632	1057.33	38	chr3	185527573	.	G	C	1057.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.964;DP=755;ExcessHet=0;FS=5.931;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=-2.194;SOR=1.263	GT:AD:DP:GQ:PL	0/1:76,45:121:99:1071,0,2087	18	0	1	0
chr3	186671788	186671788	T	C	exonic	HRG	.	nonsynonymous SNV	HRG:NM_000412:exon4:c.T557C:p.V186A	Thrombophilia due to HRG deficiency, Autosomal dominant;Thrombophilia due to elevated HRG, Autosomal dominant	.	.	.	.	.	.	.	0	0.002	.	3971964	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.046	0.00231536100543	.	.	5.776e-05	0	0	0	0	9.001e-05	0	6.07e-05	4.53e-05	7	154602	rs201250387	3.148e-05	3.147e-05	3.268e-05	3.026e-05	0.0007	2.413e-05	2.158e-05	0.0002	0.0001	0	0	0	0	0	0.0007	3.328e-05	3.313e-05	3.478e-05	2.643e-05	2.631e-05	2.58e-05	2.708e-05	5.895e-05	8.17e-06	5.16e-06	1.976e-05	1.127e-05	0	0	0	0	0	0	0	5.895e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.406237	0.04565	N	1.475760	1	0.08975	N	-0.515	0.02571	N	2.29	0.17113	T	1.62	0.00637	N	0.047	0.01911	-1.0629	0.11045	T	0.011	0.03996	T	10	0.037033558	0.02033	T	0.002315	0.04452	T	0.046	0.12618	.	.	0.0482279557977	0.04254	0.11375319271105756	0.11303	0.0922650661797	0.10416	0.335345059633	0.15740	T	0.055856	0.30123	T	-0.518719	0.00448	T	-0.791198	0.02132	T	0.0273150534337971	0.01589	T	0.256474	0.04006	T	0.015798967	0.00158	0.027912755	0.00981	0.015798967	0.00158	0.027912755	0.00980	-3.256	0.13176	T	0.07181482645762964	0.02892	0.125	0.26357	B	.	.	-3.744263	0.00002	0.001	0.18381620489875325	0.00576	0.00268	0.01460	N	AEFBI	0.369639	0.45629	N	-2.71213166213678	0.00005	0.0002203021	-2.75429339701056	0.00006	0.0002608193	0.99999999995993	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.22	-10.4	0.00257	-5.285000	0.00160	-20.000000	0.00162	-5.186000	0.00013	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.137:0.0892:0.2042:0.5696	5.612	0.16690	940	0.13648	Cystatin domain	.	.	.	.	.	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	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	527.33	37	chr3	186671788	.	T	C	527.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.837;DP=723;ExcessHet=0;FS=0.907;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.51;ReadPosRankSum=0.954;SOR=0.551	GT:AD:DP:GQ:PL	0/1:53,28:81:99:541,0,1401	18	0	1	0
chr3	189995368	189995368	C	A	exonic	P3H2	.	nonsynonymous SNV	P3H2:NM_001134418:exon2:c.G12T:p.Q4H,P3H2:NM_018192:exon2:c.G555T:p.Q185H	Myopia, high, with cataract and vitreoretinal degeneration, Autosomal recessive	1	1507	14	0	0	14	0.00462351	.	.	YES	538358	not_provided|Myopia,_high,_with_cataract_and_vitreoretinal_degeneration	MedGen:C3661900|MONDO:MONDO:0013670,MedGen:C3280346,OMIM:614292	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.145	.	0.0002	0.00359425	0.0012	9.61e-05	0.0006	0	0	0.0006	0.0022	0.0061	0.0011902	184	154602	rs117688924	0.0009	0.0009	0.0007	0.0010	0.0062	0.0008	0.0008	0.0058	0.0056	0.0003	0.0006	0.0029	2.519e-05	0	0.0059	0.0004	0.0015	0.0062	0.0008	0.0008	0.0007	0.0009	0.0093	0.0007	0.0006	0.0072	0.0064	7.224e-05	0	0.0009	0.0020	0.0002	0	0.0068	0.0007	0.0019	0.0093	0.011	0.63226	D	0.029	0.58089	D	0.994	0.66517	D	0.885	0.62825	P	0.000254	0.46924	D	0.197028	0.916514	0.36554	D	1.775	0.45938	L	1.58	0.40218	T	-1.58	0.42001	N	0.415	0.45520	-0.8560	0.51548	T	0.102	0.37618	T	9	0.00795579	0.00181	T	.	.	.	0.145	0.38592	0.358	0.36060	0.324161360171	0.32030	0.532962182838961	0.53221	0.283057473856	0.30755	0.451816797256	0.32192	T	0.111784	0.42754	T	-0.464984	0.00914	T	-0.43822	0.29007	T	0.0554225582295242	0.06428	T	0.929107	0.73907	D	0.083130576	0.19182	0.10408253	0.24988	0.083130576	0.19182	0.10408253	0.24988	-8.052	0.61424	D	0.27357052326696946	0.36761	0.308	0.59274	B	.;.;.;.	.;.;.;.	3.415466	0.47403	22.5	0.99700674420012203	0.80591	0.66466	0.33088	D	ALL	0.169292	0.29612	N	0.213103086037382	0.51834	3.361646	0.18438217101127	0.48991	3.107842	0.999999996362235	0.74766	0.75658	0.98901	0	0.693117	0.66813	0	0.858454	0.99976	0	0.613276	0.41899	0	.	.	5.34	2.39	0.28492	-0.085000	0.11215	0.840000	0.22034	0.599000	0.40250	0.711000	0.28732	0.999000	0.35428	0.998000	0.85391	0.1356:0.7138:0.0:0.1505	8.420	0.31856	810	0.42761	.;.;.;.	.	.	.	.	.	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	0.003525	0.000000	0.004076	0.005848	0.000000	0.017241	0.003049	0.003788	0.02632	1358.33	33	chr3	189995368	.	C	A	1358.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.96;DP=719;ExcessHet=0;FS=3.827;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=-0.458;SOR=0.949	GT:AD:DP:GQ:PL	0/1:46,49:95:99:1372,0,1166	18	0	1	0
chr3	194617104	194617104	G	C	exonic	TMEM44	.	nonsynonymous SNV	TMEM44:NM_001011655:exon6:c.C778G:p.L260V,TMEM44:NM_001166306:exon6:c.C778G:p.L260V,TMEM44:NM_138399:exon6:c.C778G:p.L260V,TMEM44:NM_001166305:exon7:c.C919G:p.L307V	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0003	0.00419329	0.0096	0.0004	0.0022	0	0	0.0003	0.0091	0.0496	0.0015524	240	154602	rs149267668	0.0012	0.0013	0.0007	0.0017	0.0184	0.0012	0.0011	0.0176	0.0173	6.408e-05	9.105e-05	0	2.786e-05	0	0.0007	0.0002	0.0013	0.0184	0.0007	0.0007	0.0004	0.0011	0.0207	0.0006	0.0006	0.0174	0.0162	0.0001	0	0.0001	0	0	0	0	5.881e-05	0.0005	0.0207	0.153	0.24372	T	0.111	0.37173	T	0.096	0.25489	B	0.103	0.30945	B	0.000276	0.46590	D	0.000000	0.75692	0.33993	D	1.34	0.33385	L	1.03	0.40469	T	-1.21	0.39119	N	0.121	0.27197	-1.0309	0.20163	T	0.078	0.31224	T	10	0.005316913	0.00117	T	.	.	.	0.037	0.09474	.	.	0.0846915920261	0.08053	0.2164425022267074	0.21560	0.156764246655	0.17697	0.478634595871	0.35869	T	0.003862	0.21780	T	-0.51579	0.00465	T	-0.498736	0.22479	T	0.0207705687942124	0.00777	T	0.654634	0.28809	T	0.11683522	0.27551	0.0691593	0.14534	0.11683522	0.27551	0.0691593	0.14534	-5.448	0.51908	T	.	.	0.192	0.41125	B	.;.;.;.;.	.;.;.;.;.	2.057945	0.26162	17.02	0.93008608150202865	0.22601	0.38953	0.26104	N	AEFDBI	0.085837	0.17403	N	-0.37070691152692	0.26517	1.447868	-0.276241546557587	0.28883	1.613864	0.446392230801974	0.20500	0.67177	0.52595	0	0.633656	0.55848	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.02	2.18	0.26813	0.378000	0.20298	6.060000	0.53164	0.676000	0.76740	0.972000	0.34453	1.000000	0.68203	0.814000	0.38357	0.0963:0.1766:0.5443:0.1828	3.163	0.06135	967	0.07127	.;.;.;.;.	.	.	.	.	.	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	0.002583	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003846	0.02632	603.33	36	chr3	194617104	.	G	C	603.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.958;DP=1048;ExcessHet=0;FS=5.656;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.473;SOR=0.255	GT:AD:DP:GQ:PL	0/1:35,25:60:99:617,0,1042	18	0	1	0
chr3	195725634	195725634	C	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.C1031T:p.A344V	.	1184	322	10	4	2	20	0.0271903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0125858967358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1352280116	0.0075	0.0019	0.0071	0.0079	0.0191	0.0071	0.0070	0.0166	0.0157	0.0121	0.0024	0.0088	0.0191	0.0083	0.0073	0.0063	0.0087	0.0081	0.0047	0.0010	0	0.0083	.	0	0	.	.	0	0	0	0.2500	0	0	0	0	.	0	0.436	0.17410	T	0.04	0.50809	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.93	0.14408	T	0.08	0.06026	N	0.039	0.04188	-0.9799	0.35025	T	0.027	0.11663	T	4	0.0044902265	0.00092	T	0.012586	0.31297	T	0.053	0.14996	0.12	0.02719	.	.	0.021717678755532547	0.02123	.	.	.	.	.	0.002308	0.09270	T	-0.635626	0.00088	T	-0.679412	0.07019	T	0.00417808576458406	0.00045	T	.	.	.	0.05312774	0.10008	0.09751601	0.23215	0.05312774	0.10008	0.09751601	0.23214	-10.072	0.74342	D	.	.	0.497	0.70345	A	.;.;.	.;.;.	1.040089	0.14208	10.78	0.97137123168121464	0.32525	0.01279	0.04467	N	AEFI	0.056585	0.10471	N	-0.642813956337898	0.17670	0.9112259	-0.84890743290659	0.13314	0.6899907	1.15960121852374E-5	0.02871	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	.	.	.	1.317000	0.33237	-1.745000	0.04804	0.184000	0.17816	0.052000	0.21487	0.000000	0.08366	0.002000	0.04165	.	.	.	851	0.35303	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.03846	762.52	15	chr3	195725634	.	C	T	762.52	.	AC=1;AF=0.038;AN=26;DP=248;ExcessHet=0.1773;FS=13.512;InbreedingCoeff=-0.112;MLEAC=2;MLEAF=0.077;MQ=36.88;QD=10.17;SOR=0.019	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,20:36:99:0|1:195725634_C_T:772,0,123:195725634	12	0	1	6
chr3	195725660	195725660	G	A	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.G1057A:p.G353S	.	1007	500	13	0	2	15	0.0128332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0187149916559	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1182495100	0.0028	0.0008	0.0028	0.0029	0.0088	0.0026	0.0025	0.0073	0.0068	0.0047	0.0008	0.0025	0.0088	0.0019	0.0029	0.0024	0.0035	0.0025	0.0023	0.0014	0.0047	0	0.0082	0.0004	0.0002	.	.	0	0	0.0082	0	0	0	0	0.0023	0	0	0.167	0.25768	T	1.0	0.04947	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.95	0.13673	T	0.02	0.06739	N	0.082	0.05799	-0.9398	0.42648	T	0.013	0.05273	T	4	0.0047961473	0.00101	T	0.018715	0.40875	T	0.015	0.02232	0.117	0.02508	0.0138822411134	0.00435	0.041023980521367506	0.04047	.	.	.	.	.	0.003266	0.09328	T	-0.697398	0.00038	T	-0.768426	0.02820	T	0.00219954852904153	0.00023	T	.	.	.	0.07301397	0.16286	0.10828989	0.26083	0.07301397	0.16286	0.10828989	0.26082	-7.132	0.54991	T	.	.	0.142	0.37024	B	.;.;.	.;.;.	1.179202	0.15696	12.04	0.82410166005133978	0.14177	0.01010	0.03813	N	AEFI	0.062499	0.12017	N	-0.860753912406302	0.11787	0.5707371	-1.08065924404146	0.08081	0.3958111	1.15960121852374E-5	0.02871	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	.	.	.	0.004000	0.13007	0.512000	0.19089	0.205000	0.17943	0.165000	0.23867	0.001000	0.17328	0.039000	0.14166	.	.	.	851	0.35303	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02778	781.42	21	chr3	195725660	.	G	A	781.42	.	AC=1;AF=0.028;AN=36;DP=457;ExcessHet=0.119;FS=19.155;InbreedingCoeff=-0.0808;MLEAC=1;MLEAF=0.028;MQ=36.09;QD=12.02;SOR=0.07	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,21:37:99:0|1:195725634_C_T:794,0,120:195725634	17	0	1	1
chr3	195725664	195725664	T	C	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.T1061C:p.L354P	.	1209	279	4	0	30	34	0.00711744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0256055254813	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs1380180343	0.0152	0.0017	0.0153	0.0151	0.0420	0.0142	0.0139	0.0355	0.0331	0.0297	0.0137	0.0186	0.0420	0.0129	0.0115	0.0134	0.0205	0.0102	0.0034	0.0052	0.0025	0.0046	0.0060	0.0013	0.0009	.	.	0	0	0.0060	0	0	0.0405	0	0.0012	0	0	0.349	0.15823	T	0.347	0.21947	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	0	0.06538	N	2.88	0.14907	T	0.38	0.11366	N	0.019	0.01004	-0.9800	0.35002	T	0.012	0.04558	T	3	0.003928691	0.00075	T	0.025606	0.48570	D	0.056	0.15993	0.344	0.33788	.	.	0.015491436027774854	0.01505	.	.	.	.	.	0.001288	0.04008	T	-0.783148	0.00010	T	-0.830907	0.01246	T	0.00181852192895544	0.00019	T	.	.	.	0.06442869	0.13669	0.16039895	0.37361	0.06442869	0.13668	0.16039895	0.37360	4.303	0.00008	T	.	.	0.036	0.00005	B	.;.;.	.;.;.	0.474922	0.08445	5.202	0.15675441487521538	0.00392	0.00023	0.00238	N	AEFI	0.041883	0.06426	N	-1.57874941594194	0.01374	0.05988492	-1.79679866405169	0.00769	0.034314	2.48845846791929E-4	0.06141	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	.	.	.	-0.966000	0.03935	-0.877000	0.07079	-1.065000	0.01608	0.024000	0.20007	0.000000	0.08366	0.022000	0.11911	.	.	.	851	0.35303	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3333	1111.39	29	chr3	195725664	.	T	C	1111.39	.	AC=2;AF=0.333;AN=6;BaseQRankSum=0.337;DP=581;ExcessHet=1.7609;FS=9.149;InbreedingCoeff=0.0852;MLEAC=6;MLEAF=1;MQ=36.16;MQRankSum=0.621;QD=11.95;ReadPosRankSum=-0.803;SOR=0.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,21:39:99:0|1:195725634_C_T:787,0,199:195725634	1	0	2	16
chr3	195725686	195725686	-	TGGTCCC	exonic	MUC20	.	frameshift insertion	MUC20:NM_001282506:exon2:c.1083_1084insTGGTCCC:p.R362Wfs*46,MUC20:NM_001291833:exon4:c.570_571insTGGTCCC:p.R191Wfs*46,MUC20:NM_020790:exon4:c.627_628insTGGTCCC:p.S210Wfs*47	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1364976666	5.991e-05	9.133e-05	5.433e-05	6.474e-05	0.0011	3.828e-05	3.183e-05	0.0002	8.487e-05	0	0	9.529e-05	8.052e-05	0.0004	0.0011	1.72e-05	5.623e-05	2.662e-05	5.491e-05	8.747e-05	0.0001	0	0.0001	0	0	.	.	0	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	601.68	35	chr3	195725686	.	A	ATGGTCCC	601.68	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-3.228;DP=1055;ExcessHet=0.1336;FS=14.301;InbreedingCoeff=-0.0577;MLEAC=1;MLEAF=0.042;MQ=38.33;MQRankSum=-1.555;QD=4.89;ReadPosRankSum=5.76;SOR=0.161	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,20:95:99:0|1:195725634_C_T:612,0,2530:195725634	11	0	1	7
chr3	195774204	195774204	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_138297:exon2:c.C184T:p.P62S,MUC4:NM_004532:exon3:c.C337T:p.P113S,MUC4:NM_018406:exon4:c.C13045T:p.P4349S,MUC4:NM_001322468:exon21:c.C10885T:p.P3629S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0504353458662	.	.	2.573e-05	0	0	0.0001	0	1.564e-05	0	6.461e-05	1.94e-05	3	154602	rs760330404	1.579e-05	1.642e-05	8.198e-06	2.346e-05	0.0001	1.052e-05	8.78e-06	7.142e-05	5.495e-05	0	9.052e-05	0	0	0	0	6.308e-06	1.664e-05	0.0001	1.314e-05	1.313e-05	2.569e-05	0	6.541e-05	2.18e-06	8.2e-07	.	.	0	0	6.541e-05	0	0	0	0	1.47e-05	0	0	0.007	0.61437	D	0.012	0.63918	D	1.0	0.90584	D	0.984	0.76113	D	0.005267	0.32945	N	0.138494	0.769642	0.29451	N	.	.	.	0.83	0.58613	T	-6.67	0.92605	D	0.515	0.57690	-0.3570	0.73351	T	0.376	0.73370	T	9	0.30866247	0.48360	T	0.050435	0.64240	D	0.205	0.49236	.	.	0.178374595973	0.17440	0.4696296360153093	0.46881	.	.	0.450902462006	0.32067	T	.	.	.	-0.115521	0.33859	T	-0.221567	0.52587	T	0.406915614618134	0.29202	T	0.878612	0.60417	D	.	.	.	.	.	.	.	.	-7.633	0.58541	D	.	.	0.574	0.77135	P	.;.;.;.	.;.;.;.	3.364311	0.46465	22.3	0.9990056015930725	0.97275	0.86383	0.45652	D	AEFGBI	0.512277	0.54056	D	0.510463571945516	0.67705	5.11767	0.44031705635494	0.64096	4.657286	0.875224398135558	0.25501	0.533608	0.22052	0	0.547309	0.14657	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	5.27	5.27	0.73797	5.945000	0.69938	9.594000	0.81053	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.0:1.0:0.0	16.427	0.83656	794	0.45591	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	625.33	34	chr3	195774204	.	G	A	625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.073;DP=703;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-0.224;SOR=0.711	GT:AD:DP:GQ:PL	0/1:34,26:60:99:639,0,937	18	0	1	0
chr3	195779036	195779084	TGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	0	exonic	MUC4	.	.	.	.	533	777	11	0	201	212	0.00702875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1615.83	395	chr3	195779036	.	TGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	*	1615.83	.	AC=7;AF=0.318;AN=22;BaseQRankSum=1.48;DP=6040;ExcessHet=0.0735;FS=0;InbreedingCoeff=0.1383;MLEAC=10;MLEAF=0.455;MQ=54.58;MQRankSum=1.44;QD=0.81;ReadPosRankSum=-1.513;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:12,219:237:39:.:.:7490,0,39:.	5	1	5	8
chr3	195779966	195779966	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C11614T:p.P3872S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00593011867297	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751870830	9.79e-06	1.987e-05	5.944e-06	1.374e-05	8.004e-05	5.46e-06	4.21e-06	3.47e-05	2.284e-05	4.507e-05	2.926e-05	0	0	0	0	4.849e-06	0	8.004e-05	2.536e-05	0.0004	1.657e-05	3.449e-05	8.877e-05	6.74e-06	2.87e-06	1.568e-05	6.49e-06	8.877e-05	0	0	0	0	0	0	1.676e-05	0	0	0.276	0.15717	T	0.965	0.02516	T	.	.	.	.	.	.	.	.	.	.	0.99999	0.58761	D	.	.	.	1.57	0.30669	T	0.47	0.03639	N	0.159	0.16586	-1.0463	0.15447	T	0.036	0.15378	T	7	0.08696544	0.14835	T	0.00593	0.15460	T	0.047	0.12962	0.122	0.02867	0.0138822411134	0.00435	0.006639965916138862	0.00631	.	.	0.466674238443	0.34224	T	.	.	.	-0.354092	0.04475	T	-0.746405	0.03628	T	0.136093737497614	0.15934	T	0.648535	0.25952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.06159	B	.;.	.;.	0.745573	0.11150	7.792	0.88340590134953767	0.17900	0.00155	0.00932	N	AEFBI	0.050577	0.08853	N	-0.975544654075224	0.09128	0.4307401	-1.18753841709483	0.06117	0.2934697	4.06979251931331E-5	0.03775	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-1.611000	0.02165	-5.082000	0.01857	0.093000	0.17603	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	9.0E-4:0.0:0.9991:0.0	5.844	0.17905	601	0.67921	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	3732.43	268	chr3	195779966	.	G	A	3732.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.006;DP=4033;ExcessHet=0.119;FS=1.74;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=54.49;MQRankSum=0.225;QD=7.73;ReadPosRankSum=-0.853;SOR=0.646	GT:AD:DP:GQ:PL	0/1:110,146:256:99:3746,0,2901	18	0	1	0
chr3	195780062	195780062	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1471	4631.74	396	chr3	195780062	.	G	*	4631.74	.	AC=5;AF=0.147;AN=34;BaseQRankSum=1.81;DP=4944;ExcessHet=0.0107;FS=4.271;InbreedingCoeff=0.3667;MLEAC=5;MLEAF=0.147;MQ=56.06;MQRankSum=1.96;QD=3.14;ReadPosRankSum=1.27;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,169:214:99:.:.:6931,0,1286:.	13	1	3	2
chr3	195780103	195780103	G	0	exonic	MUC4	.	.	.	.	460	608	62	9	383	463	0.0617284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	6505.95	396	chr3	195780103	.	G	*	6505.95	.	AC=3;AF=0.15;AN=20;BaseQRankSum=4.79;DP=4985;ExcessHet=0.0101;FS=13.569;InbreedingCoeff=0.015;MLEAC=5;MLEAF=0.25;MQ=51.06;MQRankSum=1.46;QD=8.97;ReadPosRankSum=-1.24;SOR=0.586	GT:AD:DP:GQ:PL	0/1:45,169:214:99:6931,0,1286	7	0	3	9
chr3	195780371	195780371	-	TGAGGAAGGGCTGGTGACATGAAGAGGGGTGACGTGACCTGTAGATACTGAGGAAGTGCTAGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGA	exonic;splicing	MUC4;MUC4	NM_001322468:exon15:c.9770-1->TCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACTAGCACTTCCTCAGTATCTACAGGTCACGTCACCCCTCTTCATGTCACCAGCCCTTCCTCA	nonframeshift insertion	MUC4:NM_018406:exon2:c.11208_11209insTCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACTAGCACTTCCTCAGTATCTACAGGTCACGTCACCCCTCTTCATGTCACCAGCCCTTCCTCA:p.S3736_A3737insSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.904e-06	3.685e-06	0	3.728e-06	2.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	2.18e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	66797.9	40	chr3	195780371	.	C	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGACGTGACCTGTAGATACTGAGGAAGTGCTAGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGA	66797.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.348;DP=9675;ExcessHet=6.1876;FS=1.117;InbreedingCoeff=-0.2527;MLEAC=1;MLEAF=0.026;MQ=57.79;MQRankSum=4.54;QD=20.79;ReadPosRankSum=-16.11;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,119:159:99:.:.:6856,1132,3683:.	18	0	1	0
chr3	195780499	195780499	G	0	exonic	MUC4	.	.	.	.	0	114	53	2	57	114	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1471	45874.5	680	chr3	195780499	.	G	*	45874.5	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-0.721;DP=7497;ExcessHet=0.0925;FS=0;InbreedingCoeff=0.2762;MLEAC=5;MLEAF=0.147;MQ=54.24;MQRankSum=1.72;QD=9.76;ReadPosRankSum=-1.183;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,526:573:99:0|1:195780452_T_C:23467,2737,1315:195780452	12	0	5	2
chr3	195780501	195780501	C	0	exonic	MUC4	.	.	.	.	741	294	218	40	229	527	0.336343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	60340.5	679	chr3	195780501	.	C	*	60340.5	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-0.813;DP=7450;ExcessHet=0.6568;FS=0;InbreedingCoeff=0.0695;MLEAC=6;MLEAF=0.176;MQ=54.57;MQRankSum=-0.334;QD=10.7;ReadPosRankSum=-3.277;SOR=0.676	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,526:567:99:1|0:195780492_AGGGGTGGCCT_A:23975,2560,1135:195780492	11	0	6	2
chr3	195780510	195780510	G	0	exonic	MUC4	.	.	.	.	1	126	41	1	57	100	0.145763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	23279.0	579	chr3	195780510	.	G	*	23279.0	.	AC=6;AF=0.176;AN=34;BaseQRankSum=0.143;DP=7106;ExcessHet=0.0393;FS=0.542;InbreedingCoeff=0.3968;MLEAC=7;MLEAF=0.206;MQ=53.57;MQRankSum=2.52;QD=5.85;ReadPosRankSum=0.034;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,530:551:99:0|1:195780452_T_C:22687,1586,160:195780452	11	0	6	2
chr3	195780514	195780514	G	0	exonic	MUC4	.	.	.	.	30	98	40	1	57	99	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	22646.6	579	chr3	195780514	.	G	*	22646.6	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-0.885;DP=7531;ExcessHet=0.061;FS=0;InbreedingCoeff=0.3667;MLEAC=7;MLEAF=0.219;MQ=54.02;MQRankSum=1.88;QD=5.61;ReadPosRankSum=-1.292;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,530:548:33:0|1:195780452_T_C:22704,1501,33:195780452	10	0	6	3
chr3	195780525	195780527	GTC	0	exonic	MUC4	.	.	.	.	583	681	21	3	234	261	0.0194384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3077	5023.55	579	chr3	195780525	.	GTC	*	5023.55	.	AC=8;AF=0.308;AN=26;BaseQRankSum=-0.824;DP=7018;ExcessHet=0;FS=1.575;InbreedingCoeff=0.6608;MLEAC=11;MLEAF=0.423;MQ=53.01;MQRankSum=3.61;QD=2.26;ReadPosRankSum=0.247;SOR=0.539	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:7,530:537:99:1|1:195780452_T_C:22576,1382,0:195780452	8	3	2	6
chr3	195780528	195780528	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	946.81	579	chr3	195780528	.	C	*	946.81	.	AC=11;AF=0.5;AN=22;BaseQRankSum=2.37;DP=6994;ExcessHet=0.0015;FS=0.606;InbreedingCoeff=0.4909;MLEAC=16;MLEAF=0.727;MQ=53.39;MQRankSum=3.61;QD=0.39;ReadPosRankSum=0.587;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:8,530:538:99:1|1:195780452_T_C:22531,1340,0:195780452	4	4	3	8
chr3	195780541	195780541	C	0	exonic	MUC4	.	.	.	.	810	420	40	3	249	295	0.0519187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	949.18	579	chr3	195780541	.	C	*	949.18	.	AC=8;AF=0.444;AN=18;BaseQRankSum=0.261;DP=6540;ExcessHet=0;FS=0;InbreedingCoeff=0.5074;MLEAC=13;MLEAF=0.722;MQ=52.42;MQRankSum=5.65;QD=0.46;ReadPosRankSum=1.99;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:15,530:545:99:1|1:195780452_T_C:22115,1001,0:195780452	4	3	2	10
chr3	195780551	195780551	C	0	exonic	MUC4	.	.	.	.	581	671	22	0	248	270	0.016129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	948.16	579	chr3	195780551	.	C	*	948.16	.	AC=8;AF=0.364;AN=22;BaseQRankSum=-1;DP=6344;ExcessHet=0;FS=0;InbreedingCoeff=0.5634;MLEAC=12;MLEAF=0.545;MQ=52.17;MQRankSum=6.12;QD=0.45;ReadPosRankSum=2.54;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:18,530:548:99:1|1:195780452_T_C:21893,837,0:195780452	6	3	2	8
chr3	195780557	195780557	T	0	exonic	MUC4	.	.	.	.	578	675	22	0	247	269	0.016035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	948.49	579	chr3	195780557	.	T	*	948.49	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.826;DP=6338;ExcessHet=0;FS=0.682;InbreedingCoeff=0.518;MLEAC=12;MLEAF=0.6;MQ=52.04;MQRankSum=6.88;QD=0.45;ReadPosRankSum=2.14;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:22,530:552:99:1|1:195780452_T_C:21713,669,0:195780452	5	3	2	9
chr3	195780563	195780563	C	0	exonic	MUC4	.	.	.	.	632	621	22	0	247	269	0.0174051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	942.2	579	chr3	195780563	.	C	*	942.2	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.968;DP=6348;ExcessHet=0.0029;FS=0.656;InbreedingCoeff=0.4242;MLEAC=11;MLEAF=0.55;MQ=51.75;MQRankSum=8.81;QD=0.44;ReadPosRankSum=3.83;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:28,530:558:99:1|1:195780452_T_C:21443,417,0:195780452	5	2	3	9
chr3	195780572	195780572	T	0	exonic	MUC4	.	.	.	.	812	434	22	0	254	276	0.0247191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	69.59	579	chr3	195780572	.	T	*	69.59	.	AC=5;AF=0.278;AN=18;BaseQRankSum=1.13;DP=6411;ExcessHet=0.4981;FS=0;InbreedingCoeff=0.1556;MLEAC=8;MLEAF=0.444;MQ=51.42;MQRankSum=9.47;QD=0.03;ReadPosRankSum=4.84;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,530:575:99:0|1:195780452_T_C:20974,0,297:195780452	4	0	5	10
chr3	195780590	195780590	G	0	exonic	MUC4	.	.	.	.	755	498	22	0	247	269	0.021611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	301.13	579	chr3	195780590	.	G	*	301.13	.	AC=4;AF=0.222;AN=18;BaseQRankSum=2.87;DP=6561;ExcessHet=2.5072;FS=1.283;InbreedingCoeff=0.0198;MLEAC=7;MLEAF=0.389;MQ=50.81;MQRankSum=11.14;QD=0.13;ReadPosRankSum=2.14;SOR=0.573	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,532:591:99:0|1:195780452_T_C:20976,0,837:195780452	5	0	4	10
chr3	195781344	195781344	A	0	exonic	MUC4	.	.	.	.	429	1063	17	3	10	33	0.0107027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	1174.26	863	chr3	195781344	.	A	*	1174.26	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-0.112;DP=10473;ExcessHet=0;FS=4.608;InbreedingCoeff=0.3697;MLEAC=1;MLEAF=0.031;MQ=58.36;MQRankSum=1.2;QD=1.13;ReadPosRankSum=-1.628;SOR=1.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:858,116:1004:99:0|1:195781344_A_*:1542,0,36191:195781344	15	0	1	3
chr3	195781351	195781351	G	0	exonic	MUC4	.	.	.	.	421	1076	13	2	10	27	0.00783771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	922.91	863	chr3	195781351	.	G	*	922.91	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.563;DP=10507;ExcessHet=0;FS=4.834;InbreedingCoeff=0.6381;MLEAC=1;MLEAF=0.026;MQ=58.56;MQRankSum=1.16;QD=0.9;ReadPosRankSum=-1.583;SOR=1.22	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:858,116:998:99:0|1:195781344_A_*:1597,0,35679:195781344	18	0	1	0
chr3	195781535	195781582	CGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.9998_10045del:p.S3333_D3349delinsN,MUC4:NM_001322468:exon12:c.8819_8845del:p.V2940_A4615delinsGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	432	1084	3	0	3	6	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0005	0	0.0037	0	0.0017	0	0.0003	.	.	.	rs773375978	4.072e-05	0.0059	4.243e-05	3.896e-05	0.0003	3.176e-05	2.88e-05	2.611e-05	2.317e-05	0	3.061e-05	0.0002	9.239e-05	0.0001	0.0003	3.566e-05	5.609e-05	0	0.0005	0.0035	0.0005	0.0005	0.0015	0.0004	0.0004	0.0007	0.0005	0.0002	0	0.0008	0.0009	0.0015	0.0006	0	0.0005	0.0016	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	3437.39	679	chr3	195781534	.	TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	T	3437.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=5.22;DP=9158;ExcessHet=0.7564;FS=3.274;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=56.05;MQRankSum=-9.668;QD=1.05;ReadPosRankSum=-3.2;SOR=1.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:657,72:729:99:0|1:195781522_A_G:800,0,26819:195781522	15	0	4	0
chr3	195781535	195781535	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	354.08	679	chr3	195781535	.	C	*	354.08	.	AC=4;AF=0.111;AN=36;BaseQRankSum=0.668;DP=9232;ExcessHet=1.3;FS=3.311;InbreedingCoeff=-0.1692;MLEAC=4;MLEAF=0.111;MQ=58.31;MQRankSum=-16.18;QD=0.09;ReadPosRankSum=-5.596;SOR=1.191	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:657,72:729:99:0|1:195781522_A_G:800,0,26819:195781522	14	0	4	1
chr3	195781555	195781555	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	109.65	679	chr3	195781555	.	G	*	109.65	.	AC=2;AF=0.063;AN=32;DP=8430;ExcessHet=0.3672;FS=3.271;InbreedingCoeff=-0.1343;MLEAC=2;MLEAF=0.063;MQ=56.05;QD=0.06;SOR=1.1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:657,72:729:99:0|1:195781522_A_G:800,0,26819:195781522	14	0	2	3
chr3	195781557	195781559	GTC	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	30.65	679	chr3	195781557	.	GTC	*	30.65	.	AC=2;AF=0.063;AN=32;DP=8414;ExcessHet=0.3672;FS=3.271;InbreedingCoeff=-0.1343;MLEAC=2;MLEAF=0.063;MQ=55.86;QD=0.02;SOR=1.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:657,72:729:99:0|1:195781522_A_G:800,0,26819:195781522	14	0	2	3
chr3	195781583	195781583	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	7231.06	732	chr3	195781583	.	T	*	7231.06	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.763;DP=9189;ExcessHet=8.9063;FS=5.102;InbreedingCoeff=-0.4615;MLEAC=11;MLEAF=0.324;MQ=57.68;MQRankSum=-7.567;QD=1.27;ReadPosRankSum=-4.714;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:308,124:498:99:.:.:4238,0,12380:.	7	0	10	2
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	58698.1	630	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*	58698.1	.	AC=7;AF=0.206;AN=34;BaseQRankSum=0.997;DP=7467;ExcessHet=0.0541;FS=0;InbreedingCoeff=0.2599;MLEAC=7;MLEAF=0.206;MQ=54.21;MQRankSum=-0.328;QD=11.66;ReadPosRankSum=0.523;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:12,124:323:99:.:.:12406,7121,8558:.	11	1	5	2
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	69413.1	655	chr3	195781628	.	C	*	69413.1	.	AC=18;AF=0.5;AN=36;BaseQRankSum=1.32;DP=6779;ExcessHet=0.0128;FS=0.963;InbreedingCoeff=0.468;MLEAC=19;MLEAF=0.528;MQ=55.59;MQRankSum=1.83;QD=11.34;ReadPosRankSum=1.72;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,321:327:99:1|1:195781522_A_G:13969,968,0:195781522	5	5	8	1
chr3	195781829	195781829	C	0	exonic	MUC4	.	.	.	.	519	603	37	10	353	410	0.0451306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	658.06	322	chr3	195781829	.	C	*	658.06	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-3.153;DP=3409;ExcessHet=2.1068;FS=0;InbreedingCoeff=-0.0836;MLEAC=13;MLEAF=0.361;MQ=36.34;MQRankSum=-1.172;QD=0.24;ReadPosRankSum=-0.678;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:110,98:208:99:.:.:2494,0,4305:.	7	1	10	1
chr3	195783018	195783020	AGC	0	exonic	MUC4	.	.	.	.	441	1022	49	0	10	59	0.0234114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	6698.88	493	chr3	195783018	.	AGC	*	6698.88	.	AC=2;AF=0.056;AN=36;BaseQRankSum=2;DP=8800;ExcessHet=0.3892;FS=0;InbreedingCoeff=0.0686;MLEAC=2;MLEAF=0.056;MQ=54.08;MQRankSum=9.63;QD=5.25;ReadPosRankSum=-1.705;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:288,195:570:99:.:.:5679,0,13023:.	16	0	2	1
chr3	195783022	195783116	TCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	0	exonic	MUC4	.	.	.	.	440	1025	47	0	10	57	0.022413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	6522.88	493	chr3	195783022	.	TCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	*	6522.88	.	AC=2;AF=0.056;AN=36;BaseQRankSum=2.02;DP=8396;ExcessHet=0.3892;FS=0.53;InbreedingCoeff=0.0686;MLEAC=2;MLEAF=0.056;MQ=55.23;MQRankSum=6.95;QD=4.46;ReadPosRankSum=-1.243;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:296,310:606:99:0|1:195783010_A_*:6084,0,11413:195783010	16	0	2	1
chr3	195783068	195783068	G	0	exonic	MUC4	.	.	.	.	442	900	103	29	48	209	0.082101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	10805.8	355	chr3	195783068	.	G	*	10805.8	.	AC=4;AF=0.167;AN=24;BaseQRankSum=2.51;DP=7610;ExcessHet=1.4758;FS=5.085;InbreedingCoeff=-0.1681;MLEAC=5;MLEAF=0.208;MQ=56.22;MQRankSum=-10.42;QD=3.69;ReadPosRankSum=-2.88;SOR=1.03	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:353,310:663:99:0|1:195783010_A_*:5903,0,14338:195783010	8	0	4	7
chr3	195783070	195783070	A	0	exonic	MUC4	.	.	.	.	2	173	30	8	13	59	0.117347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	10736.8	358	chr3	195783070	.	A	*	10736.8	.	AC=4;AF=0.167;AN=24;BaseQRankSum=3.79;DP=7581;ExcessHet=1.4758;FS=7.09;InbreedingCoeff=-0.1681;MLEAC=5;MLEAF=0.208;MQ=56.3;MQRankSum=-10.39;QD=3.64;ReadPosRankSum=-2.999;SOR=1.026	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:355,310:665:99:0|1:195783010_A_*:5896,0,14518:195783010	8	0	4	7
chr3	195783084	195783084	A	0	exonic	MUC4	.	.	.	.	29	112	61	14	10	99	0.284345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	92777.8	319	chr3	195783084	.	A	*	92777.8	.	AC=4;AF=0.125;AN=32;BaseQRankSum=0.675;DP=7548;ExcessHet=0.007;FS=2.736;InbreedingCoeff=0.437;MLEAC=4;MLEAF=0.125;MQ=57.31;MQRankSum=7.15;QD=22.91;ReadPosRankSum=3.08;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:27,310:668:99:0|1:195783084_A_*:18979,11997,13094:195783084	12	0	4	3
chr3	195783086	195783086	A	0	exonic	MUC4	.	.	.	.	490	879	93	33	27	186	0.0829421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	6977.18	326	chr3	195783086	.	A	*	6977.18	.	AC=6;AF=0.214;AN=28;BaseQRankSum=0.104;DP=7530;ExcessHet=3.5988;FS=4.05;InbreedingCoeff=-0.2453;MLEAC=7;MLEAF=0.25;MQ=57.15;MQRankSum=-9.801;QD=1.64;ReadPosRankSum=-1.832;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:366,310:676:99:0|1:195783086_A_*:5904,0,14192:195783086	8	0	6	5
chr3	195783093	195783093	A	0	exonic	MUC4	.	.	.	.	83	60	55	21	7	104	0.447005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	108773.0	320	chr3	195783093	.	A	*	108773.0	.	AC=4;AF=0.143;AN=28;BaseQRankSum=-2.349;DP=7624;ExcessHet=0.0275;FS=3.375;InbreedingCoeff=0.3644;MLEAC=5;MLEAF=0.179;MQ=57.42;MQRankSum=4.92;QD=23.07;ReadPosRankSum=3.47;SOR=0.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,308:660:99:0|1:195783084_A_*:20225,12766,13319:195783084	10	0	4	5
chr3	195783103	195783103	A	0	exonic	MUC4	.	.	.	.	690	605	177	26	24	253	0.159138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2273	412.43	329	chr3	195783103	.	A	*	412.43	.	AC=5;AF=0.227;AN=22;BaseQRankSum=2.67;DP=7574;ExcessHet=5.3327;FS=6.335;InbreedingCoeff=-0.0965;MLEAC=7;MLEAF=0.318;MQ=57.66;MQRankSum=-9.084;QD=0.15;ReadPosRankSum=-0.959;SOR=0.985	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:346,300:646:99:.:.:5952,0,13143:.	6	0	5	8
chr3	195783415	195783415	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8165A:p.P2722H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000511194972926	.	.	0.0003	0	0	0.0029	0	0.0004	0	0	.	.	.	rs757915947	0.0003	0.0003	0.0003	0.0003	0.0033	0.0003	0.0003	0.0027	0.0025	0	0	0.0010	0.0033	0.0008	0.0006	7.44e-05	0.0006	0.0002	3.194e-05	0.0004	0	6.51e-05	0.0006	0	0	.	.	0	0	0	0	0.0006	0	0	0	0	0	0.189	0.23997	T	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.20292	N	.	.	.	1.48	0.31987	T	-0.42	0.20358	N	0.096	0.07673	-1.0016	0.29459	T	0.032	0.13898	T	6	0.010089844	0.00226	T	5.11E-4	0.00163	T	0.014	0.01968	0.19	0.10039	0.0297737177859	0.01360	8.704670884257128E-5	0.00007	.	.	0.542042016983	0.44734	T	.	.	.	-0.341949	0.05253	T	-0.728962	0.04374	T	0.0409642838981407	0.03865	T	0.587141	0.21465	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.33319	B	.;.	.;.	1.363002	0.17722	13.33	0.3891870080358984	0.02654	0.00088	0.00587	N	AEFBI	0.034961	0.04420	N	-0.933277390823719	0.10070	0.4795295	-1.12522507782047	0.07221	0.3504127	1.81192519909741E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.02	-1.38	0.08554	-3.524000	0.00493	-1.108000	0.06307	0.061000	0.17545	0.000000	0.06391	0.001000	0.17328	0.013000	0.09966	0.2797:0.0:0.3924:0.3279	1.629	0.02564	601	0.67921	.;.	.	.	.	.	.	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	0.003623	0.000000	0.020000	0.000000	0.000000	0.000000	0.000000	0.000000	0.0625	888.95	36	chr3	195783415	.	G	T	888.95	.	AC=2;AF=0.063;AN=32;BaseQRankSum=1.35;DP=720;ExcessHet=0.1424;FS=3.319;InbreedingCoeff=0.2166;MLEAC=2;MLEAF=0.063;MQ=43.34;MQRankSum=1.06;QD=15.6;ReadPosRankSum=1.16;SOR=0.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,23:44:99:.:.:406,0,422:.	14	0	2	3
chr3	195783889	195783889	-	T	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.7690dupA:p.T2564Nfs*26,MUC4:NM_001322468:exon7:c.7642dupA:p.T2548Nfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	0	0	0.0017	0.0001	0	0	3.88e-05	6	154602	rs775414158	0.0001	0.0002	0.0001	0.0001	0.0016	0.0001	0.0001	0.0012	0.0011	0	2.937e-05	0	0.0016	0.0010	0.0005	6.342e-05	0.0002	0.0002	0.0001	0.0001	6.709e-05	0.0002	8.849e-05	6.771e-05	5.533e-05	3.772e-05	2.582e-05	0	0	0	0	0	0.0009	0	8.849e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3618.29	531	chr3	195783889	.	G	GT	3618.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.234;DP=8572;ExcessHet=0;FS=1.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.73;MQRankSum=0.957;QD=5.34;ReadPosRankSum=1;SOR=0.86	GT:AD:DP:GQ:PL	0/1:525,153:678:99:3632,0,20179	18	0	1	0
chr3	195785132	195785132	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A6448G:p.T2150A,MUC4:NM_001322468:exon6:c.A6448G:p.T2150A	.	2	217	1	0	6	7	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00595102262378	.	.	0.0005	0.0038	0	0	0	0	0	0	1.29e-05	2	154602	rs753715454	0.0016	0.0017	0.0014	0.0018	0.0092	0.0015	0.0015	0.0078	0.0073	0.0042	0.0045	0.0028	0.0092	0.0036	0.0003	0.0011	0.0029	0.0036	0.0006	0.0024	0.0008	0.0005	0.0010	0.0005	0.0004	0.0006	0.0005	0.0010	0	0.0005	0	0	0.0010	0	0.0005	0	0.0006	0.123	0.27544	T	0.131	0.34959	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.62	0.28604	T	-0.23	0.13805	N	0.028	0.00717	-1.0253	0.21985	T	0.042	0.17910	T	7	0.009046972	0.00205	T	0.005951	0.15520	T	0.017	0.02790	.	.	0.0138822411134	0.00435	0.0018691287366703617	0.00172	.	.	0.461126625538	0.33465	T	.	.	.	-0.343244	0.05167	T	-0.730823	0.04290	T	0.00568317456085818	0.00062	T	0.473453	0.14099	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04356	B	.;.	.;.	-0.492305	0.01892	0.156	0.65482961675126961	0.07785	0.00739	0.03088	N	AEFBCI	0.041769	0.06394	N	-1.12060933506001	0.06277	0.2885292	-1.29165129709036	0.04543	0.2145078	2.25352818074072E-5	0.03498	0.615465	0.37627	0	0.54472	0.11627	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-2.679000	0.00910	-4.137000	0.02321	-2.017000	0.00438	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:2.0E-4:0.0:0.9998	5.200	0.14580	604	0.67577	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02941	544.14	1556	chr3	195785132	.	T	C	544.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.868;DP=18621;ExcessHet=0;FS=3.086;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=52.29;MQRankSum=3.32;QD=12.96;ReadPosRankSum=2.29;SOR=0.418	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,31:42:99:0|1:195785132_T_C:557,0,145:195785132	16	0	1	2
chr3	195785855	195785855	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G5725A:p.D1909N,MUC4:NM_001322468:exon6:c.G5725A:p.D1909N	.	408	1105	7	0	2	9	0.00315742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00134860183168	.	.	0.0041	0.0030	0.0019	0.0012	0	0.0063	0.0038	0.0029	0.0009444	146	154602	rs3103962	0.0022	0.0047	0.0022	0.0022	0.0042	0.0021	0.0021	0.0027	0.0023	0.0007	0.0012	0.0025	8.935e-05	0.0002	0.0042	0.0025	0.0021	0.0014	0.0019	0.0035	0.0020	0.0018	0.0030	0.0017	0.0016	0.0026	0.0025	0.0008	0.0011	0.0015	0.0023	0.0004	0.0002	0.0036	0.0030	0.0019	0.0017	0.1	0.30515	T	0.36	0.17064	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.36	0.34452	T	-0.33	0.12472	N	0.037	0.02366	-1.0345	0.19014	T	0.031	0.13461	T	8	0.0053756535	0.00118	T	0.001349	0.01936	T	0.055	0.15663	.	.	0.0138822411134	0.00435	3.717077622336155E-4	0.00034	.	.	0.584268033504	0.50686	T	.	.	.	-0.359028	0.04185	T	-0.753495	0.03352	T	0.00180360728884325	0.00018	T	0.712229	0.32360	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27493	B	.;.	.;.	2.061221	0.26211	17.04	0.97409865315967703	0.33820	0.02871	0.07644	N	AEFDGBCI	0.055460	0.10173	N	-0.949747703426852	0.09699	0.4601384	-1.13421185370058	0.07055	0.3417515	5.15302862961625E-5	0.04171	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.13	-0.522	0.11332	0.646000	0.24486	-2.628000	0.03532	0.055000	0.17525	0.020000	0.19661	0.000000	0.08366	0.004000	0.06068	0.2848:0.4686:0.0:0.2466	2.296	0.03896	604	0.67577	.;.	.	.	.	.	.	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	0.003628	0.010417	0.001661	0.000000	0.000000	0.000000	0.006897	0.000000	0.02941	2336.14	877	chr3	195785855	.	C	T	2336.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.79;DP=12886;ExcessHet=0;FS=0;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=59.39;MQRankSum=1.29;QD=1.98;ReadPosRankSum=-0.202;SOR=0.717	GT:AD:DP:GQ:PL	0/1:988,191:1179:99:2349,0,26796	16	0	1	2
chr3	195787599	195787601	CAT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3979_3981del:p.M1327del,MUC4:NM_001322468:exon4:c.3979_3981del:p.A1327_A4615delinsSSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASTGDTTPLPVTDTSSASTGQDTPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSASTGQATPLPVTGPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHTTSLHVTSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355836000	0.0028	0.0097	0.0026	0.0030	0.0064	0.0027	0.0026	0.0058	0.0056	0.0041	0.0014	0.0050	0.0059	0.0033	0.0007	0.0022	0.0031	0.0064	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	725.76	4	chr3	195787598	.	GCAT	G	725.76	.	AC=6;AF=0.188;AN=32;DP=718;ExcessHet=0;FS=3.908;InbreedingCoeff=0.7404;MLEAC=6;MLEAF=0.188;MQ=42.8;QD=1.26;SOR=1.062	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,9:9:27:1|1:195787508_T_C:405,27,0:195787508	13	3	0	3
chr3	195787599	195787599	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6538	31.65	4	chr3	195787599	.	C	*	31.65	.	AC=17;AF=0.654;AN=26;DP=716;ExcessHet=0;FS=3.908;InbreedingCoeff=0.6864;MLEAC=23;MLEAF=0.885;MQ=39;QD=0.06;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,9:9:27:1|1:195787508_T_C:405,27,0:195787508	4	8	1	6
chr3	195787600	195787600	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6538	31.65	4	chr3	195787600	.	A	*	31.65	.	AC=17;AF=0.654;AN=26;DP=716;ExcessHet=0;FS=3.908;InbreedingCoeff=0.6864;MLEAC=23;MLEAF=0.885;MQ=39;QD=0.06;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,9:9:27:1|1:195787508_T_C:405,27,0:195787508	4	8	1	6
chr3	195787606	195787606	T	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A3974T:p.D1325V,MUC4:NM_001322468:exon4:c.A3974T:p.D1325V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000655979915957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.629e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.38	0.34253	T	-0.3	0.11913	N	0.123	0.17966	-1.0518	0.13899	T	0.035	0.14900	T	8	0.093527794	0.16559	T	6.56E-4	0.00350	T	0.013	0.01715	0.28	0.23483	0.0297737177859	0.01360	0.001541378116443626	0.00142	.	.	0.48179396987	0.36304	T	.	.	.	-0.289584	0.09678	T	-0.653744	0.08694	T	0.0826538188049675	0.10323	T	0.857114	0.54640	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.46881	B	.;.	.;.	1.459843	0.18824	13.94	0.59291013908831258	0.06190	0.00314	0.01657	N	AEFI	0.054323	0.09869	N	-1.11385691208119	0.06395	0.2942896	-1.29352653674177	0.04517	0.2132571	1.2593949137403E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.312	-0.624	0.10972	-1.272000	0.02933	-8.260000	0.01000	0.060000	0.17535	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.0:0.3267:0.3426:0.3306	2.146	0.03555	604	0.67577	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.06667	248.93	3	chr3	195787606	.	T	A	248.93	.	AC=2;AF=0.067;AN=30;DP=197;ExcessHet=0;FS=0;InbreedingCoeff=0.4408;MLEAC=2;MLEAF=0.067;MQ=35.9;QD=28.22;SOR=3.912	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,6:6:18:1|1:195787508_T_C:270,18,0:195787508	14	1	0	4
chr3	196886088	196886088	C	T	exonic	SENP5	.	nonsynonymous SNV	SENP5:NM_001308045:exon2:c.C907T:p.H303Y,SENP5:NM_152699:exon2:c.C907T:p.H303Y	.	430	1072	20	0	0	20	0.00924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0055	0.00239617	0.0057	0.0011	0.0029	0	0.0014	0.0086	0.0055	0.0036	0.005595	865	154602	rs151102982	0.0057	0.0057	0.0057	0.0058	0.0144	0.0056	0.0056	0.0119	0.0110	0.0010	0.0046	0.0344	2.519e-05	0.0021	0.0144	0.0057	0.0063	0.0035	0.0053	0.0053	0.0055	0.0050	0.0062	0.0050	0.0048	0.0058	0.0056	0.0011	0.0713	0.0053	0.0360	0	0.0018	0.0136	0.0062	0.0085	0.0041	0.042	0.44358	D	0.398	0.15746	T	0.167	0.28604	B	0.04	0.23831	B	0.068702	0.21654	N	0.432451	1	0.81001	D	1.61	0.41143	L	1.37	0.34253	T	-0.92	0.25551	N	0.309	0.34874	-1.0706	0.09282	T	0.029	0.12673	T	10	0.0035499334	0.00064	T	.	.	.	0.055	0.15663	.	.	0.147330786459	0.14319	0.07654943486015639	0.07590	0.21552537	0.24085	0.307926267385	0.11594	T	0.008107	0.07462	T	-0.476606	0.00775	T	-0.453663	0.27293	T	0.0100612664167618	0.00135	T	0.716128	0.32863	T	0.07624217	0.17231	0.07669731	0.17011	0.07624217	0.17231	0.07669731	0.17011	-4.136	0.25819	T	.	.	0.09	0.12607	B	.;.	.;.	2.062754	0.26225	17.04	0.99077901006632374	0.51882	0.51476	0.28904	D	AEFBCI	0.103206	0.20683	N	-0.368203577258762	0.26609	1.453498	-0.238555164470753	0.30168	1.696263	0.999997713252263	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.37	4.49	0.54177	2.051000	0.40932	3.367000	0.37903	0.599000	0.40250	0.505000	0.26994	0.263000	0.23997	0.910000	0.44547	0.0:0.9096:0.0:0.0904	11.261	0.48315	600	0.68026	.;.	.	.	.	.	.	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	0.009063	0.005051	0.012228	0.005848	0.000000	0.008621	0.009146	0.011364	0.02632	2389.33	35	chr3	196886088	.	C	T	2389.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.087;DP=795;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.93;ReadPosRankSum=0.258;SOR=0.733	GT:AD:DP:GQ:PL	0/1:65,85:150:99:2403,0,1716	18	0	1	0
chr4	1406109	1406109	C	A	exonic	NKX1-1	.	nonsynonymous SNV	NKX1-1:NM_001290079:exon1:c.G334T:p.A112S	.	418	1097	7	0	0	7	0.00318037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	.	.	0.00199681	0.0018	0.0139	0	0	.	0.0037	0	0.0010	0.0003687	57	154602	rs141872547	0.0039	0.0032	0.0040	0.0038	0.0064	0.0037	0.0037	0.0055	0.0054	0.0018	0.0014	0.0013	0	0.0006	0.0064	0.0057	0.0035	0.0002	0.0032	0.0033	0.0032	0.0033	0.0058	0.0030	0.0029	0.0053	0.0051	0.0009	0	0.0025	0.0003	0	0.0006	0.0068	0.0058	0.0071	0.0002	0.0	0.91255	D	0.543	0.09655	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.34	0.87989	D	0.08	0.06026	N	0.148	0.15046	-0.0312	0.81605	T	0.407	0.75692	T	5	0.0048724115	0.00104	T	.	.	.	0.136	0.36778	.	.	0.665122462611	0.66230	0.20310305198347928	0.20227	1.00729817364	0.74630	.	.	.	0.014147	0.12098	T	-0.343621	0.05142	T	-0.263613	0.48462	T	0.0600492014267297	0.07177	T	0.375462	0.08961	T	0.21282241	0.43645	0.41939667	0.65935	0.21282241	0.43645	0.41939667	0.65935	-6.085	0.46985	T	.	.	0.091	0.12985	B	.	.	1.719234	0.21888	15.39	0.96390636734718016	0.29651	0.27750	0.23364	N	AEFDBHCI	0.025106	0.01662	N	-0.479994027849614	0.22738	1.216186	-0.62902872728102	0.18748	1.002939	0.999881672522875	0.44867	0.59774	0.34471	0	0.547309	0.14657	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	2.38	2.38	0.28415	-0.304000	0.08238	0.491000	0.18902	0.437000	0.21030	0.008000	0.17931	0.999000	0.35428	0.007000	0.07825	0.0:1.0:0.0:0.0	10.131	0.41850	871	0.31377	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1238.33	33	chr4	1406109	.	C	A	1238.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=708;ExcessHet=0;FS=0.817;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=-1.118;SOR=0.823	GT:AD:DP:GQ:PL	0/1:38,48:86:99:1252,0,866	18	0	1	0
chr4	1737293	1737293	G	A	exonic	TACC3	.	nonsynonymous SNV	TACC3:NM_006342:exon9:c.G1801A:p.V601M	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.012362974314	.	.	8.287e-06	0	8.67e-05	0	0	0	0	0	6.5e-06	1	154602	rs761464132	6.157e-06	6.156e-06	5.445e-06	6.876e-06	0.0009	2.9e-06	2.1e-06	0.0003	0.0002	0	2.236e-05	0	2.519e-05	0	0.0009	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.31235	T	0.114	0.36765	T	0.999	0.77913	D	0.915	0.65091	D	0.834767	0.09079	N	0.894418	1	0.08975	N	1.625	0.41611	L	2.84	0.10674	T	-1.21	0.30762	N	0.351	0.39254	-1.0411	0.16981	T	0.055	0.23186	T	10	0.21548584	0.38102	T	0.012363	0.30863	T	0.074	0.21613	0.174	0.08014	0.270889551736	0.26708	0.12797299764545608	0.12722	0.33828758877	0.35804	0.538798868656	0.44276	T	0.104869	0.41482	T	-0.26886	0.11884	T	-0.527121	0.19576	T	0.125419646501541	0.14953	T	0.771423	0.40183	T	0.04516151	0.07345	0.040789634	0.04489	0.04516151	0.07345	0.040789634	0.04489	-4.816	0.34777	T	.	.	0.225	0.45690	B	.	.	2.469455	0.31825	18.86	0.99333801204231231	0.59895	0.44909	0.27422	N	AEFDBCI	0.038984	0.05599	N	-0.409006094837244	0.25153	1.363301	-0.582944636572218	0.19938	1.071969	0.999911772277787	0.45857	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.54	0.354	0.15300	0.404000	0.20722	3.061000	0.36160	0.671000	0.69459	0.514000	0.27064	0.999000	0.35428	0.025000	0.12405	0.0:0.334:0.3517:0.3143	6.943	0.23684	799	0.44747	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1735.33	43	chr4	1737293	.	G	A	1735.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.365;DP=794;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.522;SOR=0.72	GT:AD:DP:GQ:PL	0/1:70,71:141:99:1749,0,1666	18	0	1	0
chr4	2662992	2662992	G	C	splicing	FAM193A	NM_001366316:exon11:c.1728+1G>C;NM_001366318:exon11:c.1899+1G>C;NM_001256666:exon9:c.1026+1G>C;NM_001256667:exon10:c.1092+1G>C;NM_003704:exon9:c.1026+1G>C;NM_001256668:exon9:c.1026+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192e-06	0.0001	4.102e-06	8.307e-06	8.147e-06	2.91e-06	2.11e-06	3.83e-06	2.78e-06	0	0	0	0	0	0	8.147e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278694	0.81204	D	0.162548	0.80963	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.228451	0.87761	29.4	0.99446033122521582	0.65021	0.97690	0.76437	D	AEFBCI	.	.	.	1.17962989754767	0.99342	22.03292	1.0229923532359	0.99025	20.32474	0.999999999999954	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.128073	0.03558	0	0.087121	0.02386	0	0.975606	0.78585	5.94	5.94	0.96165	8.898000	0.92168	11.640000	0.93781	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.585000	0.31016	0.0:0.0:1.0:0.0	19.362	0.94432	624	0.65661	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	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	.	.	.	.	.	.	.	.	0.07692	217.39	102	chr4	2662992	.	G	C	217.39	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-3.219;DP=1811;ExcessHet=0.119;FS=199.457;InbreedingCoeff=-0.1563;MLEAC=3;MLEAF=0.115;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=1.45;SOR=10.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,35:113:99:.:.:182,0,1598:.	11	0	2	6
chr4	2931463	2931463	G	A	exonic	MFSD10	.	nonsynonymous SNV	MFSD10:NM_001363679:exon9:c.C917T:p.P306L	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00941737385725	0.0002	.	0.0009	0	0.0013	0	0	0.0008	0	0.0015	0.0002652	41	154602	rs376864708	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0003	0.0008	0.0008	6.195e-05	0.0002	0	0	0	0.0016	0.0003	0.0005	0.0010	0.0001	0.0001	0.0001	0.0001	0.0002	7.086e-05	5.743e-05	0.0001	9.9e-05	0	0	0	0	0	0	0.0034	0.0002	0.0005	0.0002	0.244	0.17468	T	0.255	0.23365	T	0.012	0.16265	B	0.027	0.21085	B	.	.	.	.	0.616782	0.81001	D	.	.	.	0.69	0.51714	T	2.06	0.00379	N	0.348	0.38950	-1.0158	0.25078	T	0.069	0.28180	T	8	0.025450379	0.00739	T	0.009417	0.24693	T	0.030	0.07022	.	.	0.378322506985	0.37446	.	.	.	.	.	.	.	0.104746	0.41459	T	-0.332062	0.05957	T	-0.300201	0.44703	T	0.0234668268359589	0.01079	T	0.509649	0.16214	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.22098	B	.	.	1.060873	0.14425	11.00	0.94479724319400959	0.24934	0.67338	0.33397	D	AEFDBCI	0.090740	0.18385	N	-0.093152188924336	0.37692	2.196594	-0.168484838900721	0.32704	1.863232	0.999995433595738	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	3.99	3.09	0.34677	0.550000	0.23052	2.065000	0.30414	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.686000	0.33718	0.1783:0.0:0.4843:0.3374	4.180	0.09830	609	0.67094	Major facilitator superfamily 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	0.000510	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	845.33	36	chr4	2931463	.	G	A	845.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.281;DP=829;ExcessHet=0;FS=8.183;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.678;SOR=1.43	GT:AD:DP:GQ:PL	0/1:38,32:70:99:859,0,1209	18	0	1	0
chr4	3074909	3074910	GC	-	exonic	HTT	.	frameshift deletion	HTT:NM_002111:exon1:c.84_85del:p.Q29Afs*53	Huntington disease, Autosomal dominant	3	1504	11	3	1	18	0.00561983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0003	0.0003074	8	26028	rs767553699	0.0013	0.0019	0.0012	0.0015	0.0037	0.0013	0.0013	0.0026	0.0025	0.0006	0.0015	0.0065	0	0.0008	0.0037	0.0011	0.0028	0.0029	0.0037	0.0039	0.0041	0.0034	0.0051	0.0035	0.0034	0.0046	0.0045	0.0015	0	0.0043	0.0109	0.0012	0.0011	0.0035	0.0051	0.0069	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	616.29	40	chr4	3074908	.	AGC	A	616.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.514;DP=954;ExcessHet=0;FS=1.399;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.66;ReadPosRankSum=2.03;SOR=0.996	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,17:37:99:0|1:3074908_AGC_A:630,0,782:3074908	18	0	1	0
chr4	3074912	3074927	GCAGCAGCAGCAGCAG	-	exonic	HTT	.	frameshift deletion	HTT:NM_002111:exon1:c.87_102del:p.Q29Hfs*67	Huntington disease, Autosomal dominant	3	1503	11	3	2	19	0.00562355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0003	0.0003074	8	26028	rs760691860	0.0013	0.0019	0.0012	0.0014	0.0034	0.0013	0.0012	0.0026	0.0025	0.0005	0.0015	0.0064	0	0.0008	0.0034	0.0011	0.0025	0.0030	0.0036	0.0039	0.0040	0.0032	0.0050	0.0034	0.0033	0.0046	0.0044	0.0015	0	0.0041	0.0109	0.0010	0.0009	0.0035	0.0050	0.0064	0.0032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	610.29	40	chr4	3074911	.	AGCAGCAGCAGCAGCAG	A	610.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.519;DP=947;ExcessHet=0;FS=1.399;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=1.84;SOR=1.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,17:39:99:0|1:3074908_AGC_A:624,0,865:3074908	18	0	1	0
chr4	3074923	3074925	AGC	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3013.79	40	chr4	3074923	.	AGC	*	3013.79	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.533;DP=945;ExcessHet=1.3;FS=0.552;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=3.34;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,17:35:99:1|0:3074908_AGC_A:799,0,776:3074908	18	0	1	0
chr4	3074926	3074930	AGCAG	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	0	201	8	1	16	26	0.0242718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2705.75	40	chr4	3074926	.	AGCAG	*	2705.75	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.745;DP=933;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=3.4;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,17:35:99:1|0:3074908_AGC_A:799,0,776:3074908	18	0	1	0
chr4	3074927	3074927	G	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	4	1369	54	4	91	153	0.0221429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	153.78	40	chr4	3074927	.	G	*	153.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.204;DP=935;ExcessHet=2.0135;FS=2.431;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=2.19;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,17:35:99:1|0:3074908_AGC_A:799,0,776:3074908	14	0	5	0
chr4	3130311	3130311	A	G	exonic	HTT	.	nonsynonymous SNV	HTT:NM_002111:exon14:c.A1874G:p.Q625R	Huntington disease, Autosomal dominant	1	1492	26	3	0	32	0.0106101	.	.	.	1582210	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.079	0.00307469766437	0.0060	0.00279553	0.0059	0.0009	0.0029	0	0.0006	0.0078	0.0080	0.0090	0.0056597	875	154602	rs151106561	0.0059	0.0059	0.0058	0.0060	0.0080	0.0058	0.0058	0.0071	0.0069	0.0010	0.0035	0.0182	2.569e-05	0.0010	0.0080	0.0061	0.0074	0.0076	0.0039	0.0039	0.0042	0.0036	0.0057	0.0036	0.0035	0.0053	0.0051	0.0010	0	0.0048	0.0118	0.0002	0.0010	0.0068	0.0057	0.0061	0.0044	0.327	0.13262	T	0.026	0.55759	D	0.002	0.09854	B	0.003	0.08700	B	0.000050	0.53742	D	0.167936	0.571816	0.31172	N	1.1	0.28011	L	3.5	0.05014	T	-1.11	0.28703	N	0.159	0.16586	-1.1266	0.01952	T	0.015	0.06282	T	10	0.0044893026	0.00092	T	0.003075	0.06636	T	0.079	0.23065	.	.	0.302481332339	0.29867	0.14526518922379095	0.14449	0.176767326265	0.19889	0.343192756176	0.16915	T	0.156359	0.49850	T	-0.569926	0.00222	T	-0.584897	0.14111	T	0.0155558761070371	0.00353	T	0.761424	0.52631	T	0.13567653	0.31481	0.16072819	0.37421	0.14039071	0.32392	0.16072819	0.37421	-3.741	0.19925	T	0.09116276268044496	0.05754	0.093	0.16582	B	.;.	.;.	1.891908	0.24027	16.24	0.99241762718833137	0.56565	0.91378	0.53413	D	AEFDBI	0.228202	0.35191	N	-0.0599764683322441	0.39158	2.304722	0.0926252157069326	0.44176	2.704542	0.999986357448469	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.617000	0.53923	2.734000	0.34411	0.756000	0.94297	0.998000	0.41325	0.929000	0.28499	0.997000	0.79791	1.0:0.0:0.0:0.0	14.974	0.70906	456	0.79013	.;.	.	.	.	.	.	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	0.005035	0.005051	0.005435	0.005848	0.000000	0.000000	0.003049	0.007576	0.02632	688.33	38	chr4	3130311	.	A	G	688.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.25;DP=733;ExcessHet=0;FS=6.522;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=-1.006;SOR=1.503	GT:AD:DP:GQ:PL	0/1:37,33:70:99:702,0,991	18	0	1	0
chr4	4274759	4274759	T	C	exonic	LYAR	.	nonsynonymous SNV	LYAR:NM_001145725:exon7:c.A440G:p.N147S,LYAR:NM_017816:exon7:c.A440G:p.N147S	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00202592799949	.	.	8.256e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs374749432	5.542e-06	6.156e-06	2.755e-06	8.361e-06	0.0004	2.38e-06	1.72e-06	6.19e-05	2.557e-05	0	0	0	0	0	0.0004	3.613e-06	1.679e-05	1.222e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.881	0.03214	T	.	.	.	.	.	.	0.178578	0.03165	N	1.469460	1	0.08975	N	.	.	.	1.57	0.29342	T	-0.09	0.08340	N	0.008	0.00068	-1.0288	0.20843	T	0.040	0.17106	T	10	0.03801143	0.02192	T	0.002026	0.03668	T	0.009	0.00846	0.093	0.01151	0.0846915920261	0.08053	0.09667588435448814	0.09599	0.0455527235742	0.04945	0.213899493217	0.00988	T	.	.	.	-0.490696	0.00644	T	-0.830137	0.01259	T	0.00829098585402879	0.00100	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00405	B	.;.	.;.	0.151214	0.05432	1.906	0.19429939123042647	0.00655	0.00401	0.02002	N	AEFBI	0.018713	0.00589	N	-1.51072284233344	0.01779	0.0779315	-1.52601426131607	0.02146	0.09823521	0.00798574097650565	0.11586	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.77	-2.75	0.05564	0.024000	0.13447	-0.505000	0.08779	-0.875000	0.02511	0.018000	0.19461	0.000000	0.08366	0.117000	0.19042	0.0:0.2135:0.1891:0.5974	7.494	0.26646	912	0.21483	.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	972.33	41	chr4	4274759	.	T	C	972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.767;DP=751;ExcessHet=0;FS=3.255;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.473;SOR=1.17	GT:AD:DP:GQ:PL	0/1:43,36:79:99:986,0,1087	18	0	1	0
chr4	5640522	5640522	C	T	exonic	EVC2	.	nonsynonymous SNV	EVC2:NM_001166136:exon10:c.G1222A:p.G408S,EVC2:NM_147127:exon10:c.G1462A:p.G488S	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	4	1512	5	1	0	7	0.00230947	.	.	YES	265941	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome|EVC2-related_disorder|not_specified|not_provided	MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.101	0.00795651746499	0.0016	0.00139776	0.0020	0.0007	0.0016	0	0.0006	0.0029	0.0055	0.0013	0.0019534	302	154602	rs145277501	0.0028	0.0028	0.0028	0.0028	0.0033	0.0027	0.0027	0.0032	0.0031	0.0003	0.0023	0.0020	0.0001	0.0009	0.0021	0.0033	0.0026	0.0011	0.0020	0.0020	0.0023	0.0017	0.0037	0.0018	0.0018	0.0030	0.0027	0.0005	0	0.0037	0.0014	0.0002	0.0008	0.0068	0.0030	0.0019	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.003776	0.34511	N	0.254820	1	0.08975	N	-2.3	0.00097	N	-0.95	0.75438	T	1.72	0.00961	N	0.082	0.06720	-0.9852	0.33784	T	0.075	0.30210	T	10	0.00306651	0.00051	T	0.007957	0.21110	T	0.101	0.28911	.	.	0.458917189328	0.45515	0.041656732012887596	0.04110	0.0202767068331	0.01990	0.460519611835	0.33382	T	0.101759	0.40883	T	-0.540997	0.00330	T	-0.552932	0.17046	T	0.0026800264057817	0.00028	T	0.294271	0.05429	T	0.029580375	0.02476	0.0580257	0.10653	0.030638702	0.02760	0.06479058	0.13036	-3.188	0.13227	T	.	.	0.054	0.00297	B	.;.	.;.	1.455194	0.18768	13.91	0.3130098391141154	0.01757	0.00049	0.00384	N	AEFDGBI	0.027724	0.02318	N	-1.27132772250513	0.04025	0.1809046	-1.12782673027727	0.07172	0.3478884	0.999987188644489	0.51787	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.82	3.82	0.43153	1.585000	0.36210	1.634000	0.27755	-0.162000	0.11565	0.035000	0.20724	0.033000	0.21346	0.610000	0.31640	0.0:0.1985:0.0:0.8015	6.521	0.21474	958	0.09170	.;.	.	.	.	.	.	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	1	0	0.003525	0.000000	0.006793	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	2418.33	45	chr4	5640522	.	C	T	2418.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.603;DP=1262;ExcessHet=0;FS=2.413;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.751;SOR=0.875	GT:AD:DP:GQ:PL	0/1:114,97:211:99:2432,0,3222	18	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4737	6195.3	135	chr4	6862306	.	T	C	6195.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.635;DP=2656;ExcessHet=38.2876;FS=246.725;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.43;ReadPosRankSum=1.38;SOR=13.192	GT:AD:DP:GQ:PL	0/1:101,53:154:99:710,0,2497	1	0	18	0
chr4	15510201	15510201	G	T	exonic	CC2D2A	.	nonsynonymous SNV	CC2D2A:NM_001378617:exon5:c.G354T:p.K118N,CC2D2A:NM_001378615:exon7:c.G501T:p.K167N,CC2D2A:NM_001080522:exon8:c.G501T:p.K167N	COACH syndrome, Autosomal recessive;Joubert syndrome 9, Autosomal recessive;Meckel syndrome 6, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	195923	not_provided|CC2D2A-related_disorder|Joubert_syndrome|Meckel-Gruber_syndrome|not_specified	MedGen:C3661900|MedGen:CN239313|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.116	.	.	0.00139776	0.0009	0	0	0.0125	0	0	0.0011	0	0.0007956	123	154602	rs190694237	0.0003	0.0003	0.0003	0.0003	0.0092	0.0002	0.0002	0.0084	0.0081	0	0	0	0.0092	0	0	4.498e-06	0.0003	9.306e-05	0.0004	0.0004	0.0003	0.0004	0.0110	0.0003	0.0003	0.0087	0.0079	0	0	0	0	0.0110	0	0	0	0	0	0.007	0.61437	D	0.006	0.70582	D	0.982	0.60036	D	0.837	0.59984	P	0.000002	0.62929	D	0.057506	0.953426	0.37830	D	2.65	0.77586	M	1.87	0.24085	T	-2.22	0.61722	N	0.275	0.31140	-1.0237	0.22508	T	0.088	0.34133	T	10	0.007771224	0.00177	T	.	.	.	0.116	0.32463	0.361	0.36548	0.552861300566	0.54945	0.3420056652383258	0.34113	0.288172231167	0.31226	0.520102024078	0.41641	T	0.246445	0.61591	T	-0.508504	0.00512	T	-0.490883	0.23298	T	0.0908614156206934	0.11320	T	0.70423	0.31438	T	0.3368929	0.56031	0.24696079	0.50217	0.3368929	0.56031	0.24696079	0.50216	-3.92	0.22602	T	0.5437223398693306	0.61307	0.383	0.61197	A	.;.;.	.;.;.	2.686749	0.35059	19.80	0.9975007066947934	0.84152	0.91238	0.53132	D	AEFBI	0.142943	0.26552	N	0.266551058013345	0.54462	3.611699	0.180358414877625	0.48771	3.08867	0.895705655406555	0.25960	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.34	3.21	0.35933	0.892000	0.27957	2.211000	0.31368	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.051000	0.15275	0.2984:0.0:0.7016:0.0	7.764	0.28137	639	0.64210	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	899.33	33	chr4	15510201	.	G	T	899.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.079;DP=687;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=1.98;SOR=0.693	GT:AD:DP:GQ:PL	0/1:34,34:68:99:913,0,961	18	0	1	0
chr4	20712899	20712899	A	C	exonic	PACRGL	.	nonsynonymous SNV	PACRGL:NM_001258346:exon4:c.A319C:p.I107L,PACRGL:NM_001317849:exon4:c.A319C:p.I107L,PACRGL:NM_001330745:exon4:c.A319C:p.I107L,PACRGL:NM_001330746:exon4:c.A319C:p.I107L,PACRGL:NM_001330747:exon4:c.A319C:p.I107L,PACRGL:NM_001330748:exon4:c.A319C:p.I107L,PACRGL:NM_001258345:exon6:c.A478C:p.I160L,PACRGL:NM_145048:exon6:c.A478C:p.I160L	.	434	1084	4	0	0	4	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	7.7e-05	0.00638978	0.0027	0	0	0.0325	0.0003	0.0006	0.0011	0.0002	0.0024515	379	154602	rs76245024	0.0014	0.0014	0.0014	0.0014	0.0451	0.0014	0.0013	0.0434	0.0427	0	6.971e-05	0	0.0451	0.0003	0.0002	0.0002	0.0012	0.0002	0.0012	0.0012	0.0011	0.0014	0.0338	0.0011	0.0010	0.0297	0.0282	0	0	0.0001	0	0.0338	0.0002	0	2.94e-05	0.0009	0.0004	0.003	0.68238	D	0.048	0.51737	D	0.507	0.37264	P	0.338	0.42306	B	0.173230	0.17314	N	0.600262	1	0.81001	D	2.85	0.82803	M	3.68	0.67874	T	-1.34	0.34198	N	0.464	0.51137	-0.7747	0.56598	T	0.120	0.42015	T	10	0.0054970086	0.00121	T	.	.	.	0.095	0.27398	.	.	0.0806252709748	0.07271	0.45239145443413953	0.45157	0.127017458091	0.14312	0.353507250547	0.18437	T	0.170616	0.53932	T	-0.34106	0.05315	T	-0.214791	0.53236	T	0.108027340294904	0.13218	T	0.842916	0.52235	T	0.09614588	0.22641	0.11053737	0.26654	0.09614588	0.22641	0.11053737	0.26654	-5.215	0.46163	T	.	.	0.229	0.52945	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.897332	0.24095	16.27	0.9702644763828292	0.32047	0.79918	0.39699	D	AEFBI	0.324427	0.42632	N	-0.107188052808728	0.37079	2.152145	-0.0661613318646397	0.36799	2.146199	6.69839905457147E-5	0.04366	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.9	0.791	0.17762	1.561000	0.35950	0.678000	0.20656	0.756000	0.94297	1.000000	0.71638	0.360000	0.24516	0.996000	0.76049	0.5829:0.0:0.4171:0.0	10.013	0.41171	702	0.57624	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1352.33	41	chr4	20712899	.	A	C	1352.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.658;DP=769;ExcessHet=0;FS=1.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-1.322;SOR=0.868	GT:AD:DP:GQ:PL	0/1:54,57:111:99:1366,0,1308	18	0	1	0
chr4	25256588	25256588	C	T	exonic	PI4K2B	.	nonsynonymous SNV	PI4K2B:NM_018323:exon4:c.C670T:p.R224C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.608	0.0930875685575	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs767555392	1.711e-05	1.71e-05	1.771e-05	1.651e-05	2.522e-05	1.175e-05	9.93e-06	1.093e-05	8.81e-06	0	0	0	2.522e-05	1.872e-05	0	1.71e-05	3.313e-05	2.32e-05	6.607e-06	6.577e-06	1.291e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.36	0.91202	M	-1.04	0.76561	T	-7.57	0.95246	D	0.87	0.89353	0.698	0.93145	D	0.766	0.92040	D	10	0.88256377	0.87571	D	0.093088	0.76009	D	0.608	0.84613	0.679	0.81691	0.928852889575	0.92813	0.8557512646009803	0.85538	1.17749172799	0.79913	0.663878202438	0.61963	T	0.287571	0.66037	T	0.403217	0.90100	D	0.341417	0.89975	D	0.99896252155304	0.95727	D	0.976002	0.91601	D	0.90420645	0.91761	0.8627055	0.92364	0.90420645	0.91763	0.8627055	0.92364	-10.709	0.78038	D	.	.	0.406	0.68545	A	.;.	.;.	5.585281	0.92335	32	0.99938779684388324	0.99734	0.95219	0.63879	D	AEFBI	0.643378	0.62001	D	0.954676401284307	0.94169	12.553	0.886106993295576	0.94939	13.16984	0.999773483282119	0.42865	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	6.07	6.07	0.98675	4.047000	0.57095	7.615000	0.62066	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.659	0.99629	659	0.61982	.;Phosphatidylinositol 3-/4-kinase, catalytic 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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1192.33	34	chr4	25256588	.	C	T	1192.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.397;SOR=0.743	GT:AD:DP:GQ:PL	0/1:61,48:109:99:1206,0,1462	18	0	1	0
chr4	37837537	37837537	G	A	exonic	PGM2	.	nonsynonymous SNV	PGM2:NM_018290:exon4:c.G365A:p.R122Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.0118951956306	7.7e-05	.	8.237e-06	9.61e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs139183829	4.114e-06	4.788e-06	5.459e-06	2.756e-06	5.411e-06	1.48e-06	9.7e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.411e-06	0	0	6.573e-06	6.567e-06	0	1.346e-05	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.853	0.02718	T	0.503	0.22828	T	0.018	0.17786	B	0.015	0.17295	B	0.000113	0.50451	N	0.205916	1	0.81001	D	0.265	0.09922	N	-0.02	0.62918	T	-0.06	0.07882	N	0.228	0.26717	-1.0008	0.29688	T	0.132	0.44347	T	10	0.18860602	0.34423	T	0.011895	0.29959	T	0.048	0.13305	.	.	0.74166409102	0.73934	0.6395563242608198	0.63890	0.0597761031305	0.06645	0.240844249725	0.02866	T	0.403664	0.76035	T	-0.116399	0.33715	T	-0.404975	0.32807	T	0.824876606464386	0.48137	D	0.891311	0.68490	D	0.06708044	0.14493	0.054589015	0.09418	0.06708044	0.14492	0.054589015	0.09418	-3.003	0.10213	T	.	.	0.095	0.14888	B	.;.	.;.	2.637999	0.34320	19.59	0.99624370380736971	0.75655	0.90820	0.52322	D	ALL	0.540066	0.55678	D	-0.25599308787287	0.30865	1.725088	-0.059725258739778	0.37072	2.16576	0.999999999997695	0.74766	0.730579	0.87903	0	0.696144	0.67643	0	0.743671	0.96076	0	0.648885	0.59868	0	.	.	5.6	3.54	0.39650	4.046000	0.57088	2.525000	0.33139	0.674000	0.70861	1.000000	0.71638	0.996000	0.32793	0.991000	0.66497	0.153:0.0:0.847:0.0	12.994	0.58037	818	0.41518	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I;Alpha-D-phosphohexomutase, alpha/beta/alpha domain I	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	3271.33	35	chr4	37837537	.	G	A	3271.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.116;DP=844;ExcessHet=0;FS=0.507;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=0.884;SOR=0.624	GT:AD:DP:GQ:PL	0/1:88,128:216:99:3285,0,1963	18	0	1	0
chr4	38797454	38797454	T	C	exonic	TLR1	.	nonsynonymous SNV	TLR1:NM_003263:exon4:c.A1378G:p.I460V	.	422	1099	1	0	0	1	0.000454752	.	.	.	116943	not_provided	MedGen:C3661900	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.066	.	.	0.000599042	0.0008	0	8.664e-05	0.0101	0	5.995e-05	0	0.0004	4.53e-05	7	154602	rs137853171	0.0004	0.0004	0.0003	0.0004	0.0098	0.0003	0.0003	0.0090	0.0087	5.974e-05	0	0	0.0098	1.872e-05	0	7.194e-05	0.0002	0.0004	0.0002	0.0002	0.0002	0.0003	0.0058	0.0002	0.0001	0.0042	0.0036	0	0	0	0	0.0058	0	0	7.349e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.043	0.21573	B	0.058	0.26451	B	0.011604	0.29466	N	0.232673	0.997036	0.22815	N	1.21	0.30464	L	0.03	0.62183	T	-0.17	0.09627	N	0.134	0.13055	-1.0061	0.28126	T	0.084	0.32872	T	10	0.006364435	0.00144	T	.	.	.	0.066	0.19193	.	.	0.0666544352282	0.05500	0.06386684918979359	0.06325	0.363663983973	0.37991	0.406907081604	0.26028	T	0.059532	0.31141	T	-0.481523	0.00724	T	-0.45876	0.26736	T	0.0143200174121759	0.00286	T	0.751425	0.37327	T	0.023515496	0.01098	0.026480597	0.00740	0.023515496	0.01097	0.026480597	0.00740	-3.02	0.10398	T	.	.	0.127	0.27343	B	.;.	.;.	0.075755	0.04829	1.431	0.18509252235534873	0.00585	0.11861	0.16908	N	AEFDGBI	0.130846	0.24956	N	-1.06599598278043	0.07277	0.3375783	-1.00437864360051	0.09689	0.4834777	0.99938546512648	0.39415	0.732398	0.92422	0	0.743671	0.97443	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	4.85	3.66	0.41111	0.564000	0.23265	0.283000	0.16788	-0.671000	0.04298	0.095000	0.22689	0.071000	0.22219	0.006000	0.07323	0.0:0.2525:0.0:0.7475	7.253	0.25337	645	0.63593	.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1898.33	112	chr4	38797454	.	T	C	1898.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.065;DP=1742;ExcessHet=0;FS=24.077;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.54;MQRankSum=0.085;QD=11.94;ReadPosRankSum=1.75;SOR=1.238	GT:AD:DP:GQ:PL	0/1:90,69:159:99:1912,0,2578	18	0	1	0
chr4	47554735	47554735	G	A	exonic	ATP10D	.	nonsynonymous SNV	ATP10D:NM_020453:exon11:c.G1645A:p.V549M	.	433	1087	1	1	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0438153168538	0.0002	0.00119808	0.0008	9.651e-05	8.643e-05	0.0002	0	0.0002	0.0011	0.0048	0.0006727	104	154602	rs187144508	0.0005	0.0005	0.0004	0.0005	0.0041	0.0004	0.0004	0.0037	0.0036	3.002e-05	0.0003	3.857e-05	0.0001	1.877e-05	0.0014	0.0002	0.0005	0.0041	0.0005	0.0005	0.0004	0.0007	0.0054	0.0005	0.0004	0.0038	0.0032	4.814e-05	0	0.0024	0.0003	0.0002	0	0	0.0002	0.0005	0.0054	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.62929	D	0.000000	0.945594	0.37494	D	2.855	0.82945	M	-0.22	0.66474	T	-2.59	0.55821	D	0.499	0.53181	-0.0619	0.80952	T	0.465	0.79312	T	10	0.011291802	0.00248	T	0.043815	0.61176	D	0.200	0.48430	.	.	0.824951134962	0.82329	0.526525312139087	0.52576	0.607774058687	0.55580	0.745488882065	0.73780	T	0.047249	0.27667	T	-0.237286	0.15696	T	-0.114142	0.62280	T	0.105769948738912	0.12980	T	0.921408	0.71494	D	0.40112737	0.60811	0.34021607	0.59777	0.40112737	0.60811	0.34021607	0.59776	-5.549	0.42324	T	.	.	0.741	0.74689	P	.	.	5.405432	0.90499	31	0.99875598868682602	0.95244	0.97733	0.76740	D	AEFBI	0.704288	0.66005	D	0.688522795572477	0.78882	6.961541	0.638022707842697	0.77720	6.734275	0.999999995484228	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.19	5.19	0.71428	5.762000	0.68459	11.693000	0.94385	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.413000	0.27073	0.0:0.0:1.0:0.0	18.088	0.89391	494	0.76445	.	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	1789.33	36	chr4	47554735	.	G	A	1789.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.262;DP=771;ExcessHet=0;FS=2.086;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.496;SOR=0.873	GT:AD:DP:GQ:PL	0/1:71,76:147:99:1803,0,1551	18	0	1	0
chr4	55896772	55896772	G	A	exonic	EXOC1	.	nonsynonymous SNV	EXOC1:NM_178237:exon15:c.G1964A:p.G655E,EXOC1:NM_001024924:exon16:c.G2009A:p.G670E,EXOC1:NM_018261:exon16:c.G2009A:p.G670E	.	435	1081	6	0	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.936	0.0272040999366	0.0062	0.00159744	0.0057	0.0013	0.0061	0	0.0027	0.0086	0.0078	0.0003	0.0056856	879	154602	rs35001804	0.0069	0.0069	0.0072	0.0066	0.0080	0.0068	0.0067	0.0078	0.0078	0.0011	0.0049	0.0117	2.534e-05	0.0023	0.0044	0.0080	0.0078	0.0002	0.0052	0.0052	0.0055	0.0048	0.0077	0.0049	0.0047	0.0072	0.0070	0.0015	0	0.0067	0.0118	0	0.0029	0.0136	0.0077	0.0076	0.0002	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.87	0.83286	M	.	.	.	-7.3	0.94484	D	0.903	0.97095	-0.0214	0.81810	T	0.460	0.79049	T	9	0.03697914	0.02025	T	0.027204	0.50045	D	0.936	0.98563	.	.	0.793516779621	0.79159	0.9374666276193575	0.93726	2.54581013605	0.97839	0.909251272678	0.97399	D	0.628712	0.88464	D	0.158454	0.70056	D	0.464227	0.93887	D	0.05916575930949	0.07036	T	0.906409	0.83962	D	0.90463	0.91800	0.9355433	0.97472	0.90463	0.91801	0.9355433	0.97473	-11.906	0.84389	D	.	.	0.992	0.95199	P	.;.;.	.;.;.	5.517226	0.91744	32	0.99789337086928076	0.87484	0.96623	0.70072	D	AEFDBHCI	0.906969	0.86041	D	0.965219935920319	0.94570	12.86222	0.94562689678313	0.97272	15.85492	0.99999998891459	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.93	5.93	0.95888	9.602000	0.97623	11.832000	0.97554	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.805000	0.37950	0.0:0.0:1.0:0.0	20.336	0.98740	898	0.25240	Exocyst complex component Sec3, C-terminal;Exocyst complex component Sec3, C-terminal;Exocyst complex component Sec3, C-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	0.005040	0.005051	0.008152	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	703.33	33	chr4	55896772	.	G	A	703.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=691;ExcessHet=0;FS=2.114;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=-1.595;SOR=0.977	GT:AD:DP:GQ:PL	0/1:43,28:71:99:717,0,1160	18	0	1	0
chr4	55965813	55965815	AAG	-	exonic	CEP135	.	nonframeshift deletion	CEP135:NM_025009:exon8:c.998_1000del:p.E335del	.	3	1480	38	1	0	40	0.0133333	.	.	.	207124	CEP135-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0018	0.000998403	0.0026	0.0003	0.0012	0	0.0065	0.0033	0.0057	0.0015	0.0002689	7	26028	rs1269311613	0.0021	0.0021	0.0021	0.0021	0.0168	0.0020	0.0020	0.0141	0.0131	0.0010	0.0018	0.0074	0	0.0073	0.0168	0.0017	0.0035	0.0014	0.0021	0.0021	0.0018	0.0024	0.0024	0.0019	0.0018	0.0021	0.0020	0.0004	0	0.0018	0.0092	0	0.0063	0.0034	0.0024	0.0057	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022796	0.036082	0.024523	0.017544	0.000000	0.025862	0.033742	0.007576	0.02632	2145.29	37	chr4	55965812	.	AAAG	A	2145.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.091;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.5;ReadPosRankSum=-0.969;SOR=0.669	GT:AD:DP:GQ:PL	0/1:54,56:110:99:2159,0,2098	18	0	1	0
chr4	56601061	56601061	A	C	exonic	THEGL	.	nonsynonymous SNV	THEGL:NM_001256475:exon8:c.A1235C:p.H412P	.	422	1042	53	5	0	63	0.0293433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0170	0	0.0109	0	.	0.0181	0	0.0176	0.0020569	318	154602	rs189562677	0.0058	0.0055	0.0052	0.0065	0.0194	0.0057	0.0057	0.0186	0.0183	0.0009	0.0022	0.0198	2.799e-05	0.0008	0.0183	0.0050	0.0073	0.0194	0.0040	0.0040	0.0040	0.0039	0.0164	0.0037	0.0036	0.0135	0.0124	0.0006	0.0011	0.0014	0.0196	0	0.0012	0.0136	0.0056	0.0057	0.0164	0.036	0.43393	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	2.015	0.55033	M	1.54	0.30133	T	-4.5	0.78135	D	0.172	0.18376	.	.	.	.	.	.	.	0.005950302	0.00133	T	.	.	.	.	.	.	.	.	.	0.4504680127375459	0.44964	.	.	0.425163269043	0.28547	T	0.043975	0.26670	T	-0.446262	0.01188	T	-0.398205	0.33593	T	.	.	.	0.419858	0.11135	T	0.41277054	0.61608	0.3506432	0.60670	0.41277054	0.61608	0.3506432	0.60669	-6.935	0.53558	T	.	.	0.371	0.57902	A	.	.	2.684197	0.35026	19.79	0.84540003119271534	0.15351	0.51585	0.28930	D	AEFBI	0.193064	0.32019	N	.	.	.	.	.	.	0.0167546444620353	0.12869	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	5.14	5.14	0.70008	2.789000	0.47504	4.571000	0.43881	0.750000	0.87069	0.767000	0.29322	0.995000	0.32472	0.005000	0.06747	1.0:0.0:0.0:0.0	11.264	0.48329	864	0.32732	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	5855.79	34	chr4	56601061	.	A	C	5855.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.229;DP=1051;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.616;SOR=0.665	GT:AD:DP:GQ:PL	0/1:84,87:171:99:2274,0,2268	16	0	3	0
chr4	61947046	61947046	C	T	exonic	ADGRL3	.	nonsynonymous SNV	ADGRL3:NM_001371342:exon12:c.C2294T:p.T765M,ADGRL3:NM_001371346:exon13:c.C2333T:p.T778M,ADGRL3:NM_001371345:exon14:c.C2513T:p.T838M,ADGRL3:NM_001322246:exon15:c.C2348T:p.T783M,ADGRL3:NM_001371343:exon15:c.C2498T:p.T833M,ADGRL3:NM_001371344:exon15:c.C2552T:p.T851M,ADGRL3:NM_015236:exon15:c.C2348T:p.T783M,ADGRL3:NM_001322402:exon16:c.C2552T:p.T851M	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0151955851281	0.0024	.	0.0012	0.0006	0.0006	0	0.0005	0.0017	0	0.0009	0.0012936	200	154602	rs201709145	0.0022	0.0022	0.0023	0.0021	0.0026	0.0022	0.0021	0.0025	0.0025	0.0003	0.0017	7.654e-05	0	0.0003	0.0010	0.0026	0.0017	0.0016	0.0017	0.0017	0.0019	0.0016	0.0029	0.0016	0.0015	0.0024	0.0022	0.0007	0.0011	0.0029	0	0	0.0004	0	0.0027	0.0009	0.0008	0.008	0.59928	D	0.211	0.27767	T	0.669	0.41149	P	0.031	0.21939	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.8	0.11082	T	-2.81	0.63669	D	0.913	0.91621	-1.0626	0.11118	T	0.022	0.09467	T	10	0.13009226	0.24757	T	0.015196	0.35793	T	0.359	0.67962	.	.	0.260580752073	0.25663	0.7468800826306136	0.74634	0.415912789628	0.42235	0.769560575485	0.77358	T	0.034013	0.23270	T	-0.146312	0.28890	T	0.0136912	0.71221	D	0.0440117641560366	0.04423	T	0.941706	0.78221	D	.	.	.	.	.	.	.	.	-11.836	0.84042	D	.	.	0.166	0.44566	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.532658	0.71174	25.6	0.99597885592600088	0.74042	0.98628	0.84879	D	AEFI	0.939014	0.93903	D	0.279841582863251	0.55126	3.677089	0.419349033023371	0.62771	4.498267	0.999999979043345	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.51	5.51	0.81769	7.905000	0.86479	7.696000	0.66036	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.602000	0.31438	0.0:1.0:0.0:0.0	19.428	0.94743	933	0.16026	.;.;GAIN domain, N-terminal;GAIN domain, N-terminal;GAIN domain, N-terminal;GAIN domain, N-terminal;GAIN domain, N-terminal;GAIN domain, N-terminal;GAIN domain, N-terminal;GAIN domain, N-terminal;GAIN domain, N-terminal;GAIN domain, N-terminal;GAIN domain, N-terminal;GAIN domain, 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	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1940.33	35	chr4	61947046	.	C	T	1940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=814;ExcessHet=0;FS=3.309;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=0.33;SOR=0.928	GT:AD:DP:GQ:PL	0/1:109,81:190:99:1954,0,2567	18	0	1	0
chr4	68064747	68064747	G	A	exonic	TMPRSS11F	.	nonsynonymous SNV	TMPRSS11F:NM_207407:exon8:c.C953T:p.S318F	.	433	1072	17	0	0	17	0.00786673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	.	0.0082	0.00259585	0.0086	0.0013	0.0022	0	0.0089	0.0136	0.0055	0.0024	0.0085445	1321	154602	rs143544573	0.0088	0.0088	0.0088	0.0088	0.0104	0.0087	0.0086	0.0102	0.0102	0.0012	0.0028	0.0039	5.04e-05	0.0076	0.0071	0.0104	0.0072	0.0018	0.0069	0.0069	0.0071	0.0067	0.0113	0.0065	0.0064	0.0107	0.0104	0.0016	0	0.0056	0.0035	0.0002	0.0076	0	0.0113	0.0104	0.0014	0.001	0.78490	D	0.002	0.79402	D	0.919	0.50927	P	0.407	0.44712	B	0.003800	0.34487	N	0.207319	0.992056	0.41543	D	1.565	0.39561	L	-2.55	0.89561	D	-4.65	0.79399	D	0.247	0.27910	-0.0072	0.82107	T	0.429	0.77120	T	10	0.0052728355	0.00115	T	.	.	.	0.374	0.69273	.	.	0.860412130432	0.85906	0.6030460757054907	0.60235	0.0744376115572	0.08353	0.428454965353	0.28998	T	0.344002	0.71257	T	-0.38425	0.02928	T	-0.311099	0.43541	T	0.059439575268213	0.07080	T	0.727827	0.34232	T	0.44317266	0.63607	0.4944546	0.70761	0.44317266	0.63607	0.4944546	0.70762	-7.215	0.55589	T	.	.	0.120	0.24666	B	.	.	1.890388	0.24013	16.24	0.99747241083990501	0.84002	0.76726	0.37653	D	AEFI	0.169536	0.29637	N	0.156847973713837	0.49137	3.117465	0.204558714955639	0.50100	3.205632	1.28248467279848E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	4.0	0.45673	1.089000	0.30501	.	.	0.676000	0.76740	0.308000	0.25396	0.972000	0.29809	0.913000	0.44837	0.0:0.0:0.6819:0.3181	12.357	0.54509	931	0.16308	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	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.012228	0.008772	0.000000	0.034483	0.006098	0.003788	0.02632	1132.33	38	chr4	68064747	.	G	A	1132.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.246;DP=747;ExcessHet=0;FS=0.694;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=-1.72;SOR=0.773	GT:AD:DP:GQ:PL	0/1:70,49:119:99:1146,0,1869	18	0	1	0
chr4	68647289	68647289	G	A	exonic	UGT2B15	.	nonsynonymous SNV	UGT2B15:NM_001076:exon6:c.C1408T:p.R470C	.	0	1509	9	4	0	17	0.00560132	.	.	.	709423	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.505	0.0122118754644	0.0047	0.00139776	0.0028	0.0006	0.0012	0	0.0008	0.0044	0.0077	0.0008	0.0028525	441	154602	rs147164238	0.0039	0.0039	0.0040	0.0039	0.0047	0.0038	0.0038	0.0046	0.0046	0.0005	0.0019	0.0006	2.519e-05	0.0010	0.0031	0.0047	0.0035	0.0007	0.0032	0.0032	0.0037	0.0027	0.0058	0.0030	0.0029	0.0053	0.0051	0.0005	0	0.0036	0.0006	0.0002	0.0008	0	0.0058	0.0038	0.0004	0.03	0.45393	D	0.025	0.56192	D	0.862	0.47435	P	0.55	0.49239	P	0.000003	0.62929	U	0.000000	0.963413	0.38347	D	4.48	0.98915	H	-0.7	0.72785	T	-6.94	0.93440	D	0.49	0.52386	0.111	0.84383	D	0.401	0.75195	T	10	0.023572743	0.00621	T	0.012212	0.30578	T	0.505	0.78662	.	.	0.605904737968	0.60274	0.2782567925007794	0.27738	0.0254598531286	0.02602	0.453642308712	0.32441	T	0.283506	0.65626	T	-0.250176	0.14076	T	-0.125598	0.61340	T	0.138474470337985	0.16142	T	0.827917	0.49191	T	0.6658283	0.76210	0.46342343	0.68851	0.6658283	0.76211	0.46342343	0.68851	-11.382	0.81711	D	.	.	0.504	0.64776	A	.	.	4.512375	0.70673	25.6	0.99855290282612064	0.93458	0.69941	0.34388	D	AEFGI	0.701595	0.65824	D	0.369993610773644	0.59804	4.162812	0.248155732730505	0.52545	3.428636	8.24818300950698E-4	0.07872	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.96	2.96	0.33383	0.478000	0.21922	.	.	0.659000	0.54702	0.711000	0.28732	0.000000	0.08366	0.023000	0.12082	0.0:0.0:1.0:0.0	11.445	0.49361	828	0.39726	.	.	.	.	.	.	Likely benign	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	1	0	0.002726	0.000000	0.004076	0.005319	0.000000	0.000000	0.009146	0.000000	0.02632	3885.33	45	chr4	68647289	.	G	A	3885.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=1015;ExcessHet=0;FS=0.907;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.91;MQRankSum=1.05;QD=13.83;ReadPosRankSum=0.871;SOR=0.623	GT:AD:DP:GQ:PL	0/1:135,146:281:99:3899,0,3242	18	0	1	0
chr4	69294741	69294741	G	A	exonic	UGT2B28	.	nonsynonymous SNV	UGT2B28:NM_053039:exon6:c.G1522A:p.V508I	.	101	1415	5	1	0	7	0.0024674	.	.	.	2822553	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	0.0017600498591	0.0044	0.00179712	0.0035	0.0005	0.0027	0	0.0071	0.0049	0.0023	0.0008	0.0003458	9	26028	rs150330705	0.0041	0.0041	0.0042	0.0040	0.0045	0.0040	0.0040	0.0044	0.0044	0.0008	0.0032	0.0028	0	0.0084	0.0038	0.0045	0.0040	0.0005	0.0042	0.0044	0.0044	0.0040	0.0061	0.0039	0.0038	0.0056	0.0054	0.0010	0	0.0049	0.0033	0	0.0065	0.0036	0.0061	0.0046	0.0010	0.885	0.02513	T	0.75	0.04807	T	0.0	0.02946	B	0.002	0.06944	B	0.703346	0.10075	N	0.817300	1	0.08975	N	-0.02	0.05091	N	0.29	0.58897	T	0.08	0.06026	N	0.042	0.01498	-1.0327	0.19586	T	0.054	0.22997	T	10	0.005805224	0.00129	T	0.00176	0.02986	T	0.019	0.03383	.	.	0.0482279557977	0.04254	0.017179241553666836	0.01672	0.028384968943	0.02914	0.304297208786	0.11045	T	0.003124	0.02525	T	-0.671577	0.00054	T	-0.729488	0.04350	T	0.00101740650106362	0.00010	T	0.370863	0.08760	T	0.036586255	0.04528	0.02687563	0.00803	0.036586255	0.04528	0.02687563	0.00803	-2.311	0.04615	T	.	.	0.077	0.06387	B	.	.	-0.471660	0.01959	0.169	0.096437337050818625	0.00103	0.00419	0.02071	N	AEFI	0.016100	0.00343	N	-1.76282846215195	0.00643	0.02771795	-1.798323242707	0.00764	0.03409481	1.17512467519987E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.85	-0.744	0.10542	-0.620000	0.05661	.	.	-1.042000	0.01662	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5249:0.0:0.4751:0.0	6.666	0.22229	906	0.23090	.	.	.	.	.	.	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	0.000560	0.000000	0.001408	0.000000	0.000000	0.000000	0.006667	0.000000	0.07895	11212.8	37	chr4	69294741	.	G	A	11212.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.15;DP=1242;ExcessHet=0;FS=2.073;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=53.67;MQRankSum=-9.841;QD=22.47;ReadPosRankSum=-0.82;SOR=0.933	GT:AD:DP:GQ:PL	0/1:127,117:244:99:3226,0,3217	17	1	1	0
chr4	84794627	84794627	G	A	exonic	WDFY3	.	nonsynonymous SNV	WDFY3:NM_014991:exon21:c.C3379T:p.R1127C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384	0.0490390820226	.	.	8.254e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs770544282	1.231e-05	1.231e-05	1.633e-05	8.251e-06	2.987e-05	7.7e-06	6.35e-06	8.52e-06	6.89e-06	2.987e-05	0	0	0	0	0	1.439e-05	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.976	0.73562	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.515	0.73286	M	0.3	0.58755	T	-7.01	0.93764	D	0.888	0.88687	-0.3467	0.73649	T	0.368	0.72773	T	10	0.8781092	0.87111	D	0.049039	0.63636	D	0.384	0.70112	0.631	0.76699	0.317526407968	0.31361	0.7698951030008654	0.76938	1.45497841777	0.86231	0.669026196003	0.62699	T	0.583861	0.86415	D	0.265431	0.80028	D	0.207143	0.83516	D	0.990239858627319	0.80451	D	0.981202	0.93547	D	0.7299209	0.79719	0.45159498	0.68094	0.7299209	0.79720	0.45159498	0.68094	-12.613	0.87708	D	0.8795832900416963	0.93776	0.698	0.72873	P	.	.	5.265848	0.88415	29.6	0.99939677000685501	0.99734	0.96967	0.71926	D	AEFBI	0.785761	0.71605	D	0.660870337124776	0.77075	6.605206	0.588699524476991	0.74128	6.084659	0.998104227974561	0.36433	0.706548	0.73137	0	0.588015	0.36545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.16	5.16	0.70563	5.983000	0.70222	7.454000	0.58989	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.433000	0.27516	0.0:0.0:0.7124:0.2876	12.698	0.56384	936	0.14734	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	61.33	34	chr4	84794627	.	G	A	61.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.57;DP=742;ExcessHet=0;FS=61.393;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=-0.729;SOR=6.183	GT:AD:DP:GQ:PL	0/1:85,21:106:75:75,0,1943	18	0	1	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2637.11	51	chr4	87615398	.	T	*	2637.11	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.46;DP=671;ExcessHet=1.8686;FS=3.681;InbreedingCoeff=-0.0857;MLEAC=4;MLEAF=0.105;MQ=59.87;MQRankSum=0;QD=8.43;ReadPosRankSum=-0.604;SOR=0.614	GT:AD:DP:GQ:PL	0/1:19,18:37:99:672,0,708	15	0	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	5164.61	38	chr4	87615730	.	ATAG	*	5164.61	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.227;DP=777;ExcessHet=1.1637;FS=2.579;InbreedingCoeff=-0.1366;MLEAC=16;MLEAF=0.444;MQ=58.46;MQRankSum=-3.184;QD=9.56;ReadPosRankSum=1.92;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,30:30:92:.:.:1251,92,0:.	5	3	10	1
chr4	87615731	87615731	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	147	40	1	11	27	50	0.223301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7632	118.42	38	chr4	87615731	.	T	*	118.42	.	AC=29;AF=0.763;AN=38;DP=779;ExcessHet=4.0268;FS=1.141;InbreedingCoeff=-0.2667;MLEAC=29;MLEAF=0.763;MQ=58.33;QD=0.23;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,30:30:92:.:.:1251,92,0:.	1	11	7	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	4778.36	38	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	4778.36	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.944;DP=851;ExcessHet=1.1637;FS=2.579;InbreedingCoeff=-0.1366;MLEAC=16;MLEAF=0.444;MQ=58.45;MQRankSum=-3.184;QD=9.26;ReadPosRankSum=2.06;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,30:30:92:.:.:1251,92,0:.	5	3	10	1
chr4	87615936	87615936	A	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	1110	191	63	131	27	352	0.459689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	4363.69	55	chr4	87615936	.	A	*	4363.69	.	AC=7;AF=0.25;AN=28;BaseQRankSum=-0.285;DP=451;ExcessHet=1.1125;FS=2.305;InbreedingCoeff=0.0232;MLEAC=9;MLEAF=0.321;MQ=55.7;MQRankSum=-2.72;QD=12.22;ReadPosRankSum=-1.255;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,29:29:85:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1262,85,0:87615920	9	2	3	5
chr4	87615956	87615956	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2692	2510.01	55	chr4	87615956	.	T	*	2510.01	.	AC=7;AF=0.269;AN=26;BaseQRankSum=3.63;DP=394;ExcessHet=0.6653;FS=4.584;InbreedingCoeff=0.1064;MLEAC=9;MLEAF=0.346;MQ=53.66;MQRankSum=-2.052;QD=8.34;ReadPosRankSum=-0.124;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,29:29:85:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1262,85,0:87615920	8	2	3	6
chr4	87615962	87615962	C	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	1185	208	24	81	24	210	0.30897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2692	2047.43	55	chr4	87615962	.	C	*	2047.43	.	AC=7;AF=0.269;AN=26;BaseQRankSum=1.18;DP=371;ExcessHet=0.2598;FS=7.159;InbreedingCoeff=0.1738;MLEAC=9;MLEAF=0.346;MQ=53.6;MQRankSum=-2.771;QD=7.45;ReadPosRankSum=-1.016;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,29:29:85:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1262,85,0:87615920	8	2	3	6
chr4	87615971	87615971	C	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	1193	243	20	43	23	129	0.179054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	981.28	55	chr4	87615971	.	C	*	981.28	.	AC=7;AF=0.318;AN=22;BaseQRankSum=1.61;DP=354;ExcessHet=0.0418;FS=2.739;InbreedingCoeff=0.2051;MLEAC=10;MLEAF=0.455;MQ=55.08;MQRankSum=1.04;QD=4.34;ReadPosRankSum=-1.15;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,29:29:85:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1262,85,0:87615920	6	2	3	8
chr4	87615974	87615974	C	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2188	63.98	55	chr4	87615974	.	C	*	63.98	.	AC=7;AF=0.219;AN=32;BaseQRankSum=0;DP=340;ExcessHet=0.0735;FS=0.516;InbreedingCoeff=0.248;MLEAC=9;MLEAF=0.281;MQ=50.01;MQRankSum=1.65;QD=0.31;ReadPosRankSum=0;SOR=0.763	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,29:29:85:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1262,85,0:87615920	11	2	3	3
chr4	87616019	87616028	CAGCAGCAAT	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1786	877.71	61	chr4	87616019	.	CAGCAGCAAT	*	877.71	.	AC=5;AF=0.179;AN=28;DP=392;ExcessHet=0.0295;FS=0.482;InbreedingCoeff=0.3156;MLEAC=6;MLEAF=0.214;MQ=50.45;QD=3.82;SOR=0.76	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,31:31:95:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1388,95,0:87615920	10	1	3	5
chr4	87616046	87616046	C	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	1014	481	12	14	1	41	0.0399202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	839.57	61	chr4	87616046	.	C	*	839.57	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-0.517;DP=479;ExcessHet=0.0154;FS=1.009;InbreedingCoeff=0.3193;MLEAC=6;MLEAF=0.2;MQ=53.38;MQRankSum=-0.366;QD=3.62;ReadPosRankSum=-0.171;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,31:31:95:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1388,95,0:87615920	11	1	3	4
chr4	87616061	87616061	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	848.5	61	chr4	87616061	.	T	*	848.5	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.914;DP=485;ExcessHet=0.0678;FS=0;InbreedingCoeff=0.1824;MLEAC=9;MLEAF=0.563;MQ=54.94;MQRankSum=0;QD=3.66;ReadPosRankSum=1.32;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,31:31:95:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1388,95,0:87615920	4	1	3	11
chr4	87616064	87616109	TAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAA	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	802.61	61	chr4	87616064	.	TAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAA	*	802.61	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.732;DP=494;ExcessHet=0.0234;FS=0;InbreedingCoeff=0.1263;MLEAC=8;MLEAF=0.5;MQ=55.85;MQRankSum=0.137;QD=3.47;ReadPosRankSum=1.8;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,31:31:95:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1388,95,0:87615920	4	1	3	11
chr4	88131846	88131846	G	T	exonic	ABCG2	.	nonsynonymous SNV	ABCG2:NM_001257386:exon4:c.C335A:p.P112Q,ABCG2:NM_001348986:exon4:c.C335A:p.P112Q,ABCG2:NM_001348987:exon4:c.C335A:p.P112Q,ABCG2:NM_001348989:exon4:c.C335A:p.P112Q,ABCG2:NM_004827:exon4:c.C335A:p.P112Q,ABCG2:NM_001348985:exon5:c.C335A:p.P112Q,ABCG2:NM_001348988:exon5:c.C335A:p.P112Q	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	0.0457920311462	0.0004	0.000199681	0.0004	0	0	0	0.0002	0.0006	0	0.0002	0.0004075	63	154602	rs199473672	0.0006	0.0006	0.0006	0.0006	0.0007	0.0005	0.0005	0.0006	0.0006	8.965e-05	0.0003	0	0	0.0007	0.0004	0.0007	0.0007	0.0001	0.0004	0.0004	0.0004	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0001	0	0.0004	0	0	0.0002	0	0.0006	0.0005	0.0002	0.042	0.41637	D	0.266	0.26798	T	0.99	0.67487	D	0.94	0.74104	D	0.003489	0.34874	N	0.337453	0.981	0.39673	D	1.085	0.27262	L	-3.3	0.93787	D	-5.31	0.85994	D	0.475	0.52475	0.497	0.90502	D	0.774	0.92318	D	10	0.23077849	0.40037	T	0.045792	0.62152	D	0.425	0.73299	.	.	0.859353189731	0.85799	.	.	0.0498133257388	0.05466	0.319958329201	0.13414	T	0.542	0.84325	D	-0.156062	0.27366	T	-0.0955068	0.63744	T	0.184478706836679	0.19513	T	0.820618	0.92599	T	0.37096688	0.58656	0.36388996	0.61767	0.37096688	0.58657	0.36388996	0.61767	-6.271	0.51728	T	.	.	0.123	0.30555	B	.;.;.;.	.;.;.;.	2.326467	0.29799	18.24	0.97735557092085101	0.35646	0.92372	0.55559	D	AEFI	0.352784	0.44543	N	-0.220439474644554	0.32296	1.819842	-0.278842559776506	0.28795	1.60835	0.937026500810224	0.27279	0.638212	0.43195	0	0.573888	0.26702	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.42	2.7	0.31007	1.930000	0.39753	4.338000	0.43048	-0.746000	0.03629	0.996000	0.39380	1.000000	0.68203	0.064000	0.16252	0.0782:0.1318:0.79:0.0	11.006	0.46848	599	0.68140	.;ABC transporter-like|ABC transporter-like|AAA+ ATPase 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	.	.	.	.	.	.	.	.	0.02632	1495.33	34	chr4	88131846	.	G	T	1495.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.38;DP=749;ExcessHet=0;FS=1.533;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.003;SOR=0.507	GT:AD:DP:GQ:PL	0/1:56,54:110:99:1509,0,1341	18	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P,ADH1B:NM_001286650:exon4:c.G88C:p.A30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	4800.47	119	chr4	99318097	.	C	G	4800.47	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-2.037;DP=2929;ExcessHet=25.4433;FS=292.214;InbreedingCoeff=-0.7674;MLEAC=17;MLEAF=0.472;MQ=59.96;MQRankSum=0;QD=2.15;ReadPosRankSum=0.505;SOR=13.638	GT:AD:DP:GQ:PL	0/1:82,45:145:99:225,0,1331	2	0	16	1
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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4767.86	165	chr4	99347057	.	C	G	4767.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.37;DP=2499;ExcessHet=31.086;FS=313.504;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=59.98;MQRankSum=0;QD=2.44;ReadPosRankSum=-0.377;SOR=11.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:73,34:107:99:.:.:134,0,1214:.	2	0	17	0
chr4	106171171	106171171	G	A	exonic	TBCK	.	nonsynonymous SNV	TBCK:NM_033115:exon21:c.C1970T:p.S657F,TBCK:NM_001163435:exon23:c.C2159T:p.S720F,TBCK:NM_001163436:exon23:c.C2159T:p.S720F,TBCK:NM_001163437:exon23:c.C2042T:p.S681F,TBCK:NM_001290768:exon24:c.C1643T:p.S548F	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, Autosomal recessive	428	1089	5	0	0	5	0.00229043	.	.	YES	903530	Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_3|not_provided	MONDO:MONDO:0014823,MedGen:C5567480,OMIM:616900,Orphanet:488632|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.111	0.0240659459662	7.7e-05	0.000199681	5.777e-05	9.61e-05	8.732e-05	0	0	1.5e-05	0	0.0002	5.17e-05	8	154602	rs370050799	2.807e-05	2.805e-05	2.18e-05	3.441e-05	0.0005	2.088e-05	1.88e-05	0.0002	0.0002	0	2.245e-05	0	0	0	0.0005	8.997e-06	4.973e-05	0.0003	4.599e-05	4.594e-05	6.429e-05	2.687e-05	0.0010	2.109e-05	1.527e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.942e-05	0	0.0010	0.053	0.39097	T	0.158	0.31936	T	0.006	0.32870	B	0.024	0.30579	B	0.712252	0.10003	N	0.886538	1	0.08975	N	0.55	0.14455	N	-0.21	0.67011	T	-0.71	0.22294	N	0.234	0.26354	-0.9590	0.39368	T	0.139	0.45734	T	10	0.040279508	0.02584	T	0.024066	0.47052	T	0.111	0.31313	.	.	0.732106347842	0.72972	0.2166218010954197	0.21578	0.088428659937	0.09995	0.338088333607	0.16151	T	0.004825	0.04238	T	-0.3287	0.06211	T	-0.409607	0.32270	T	0.0208902675658464	0.00790	T	0.368563	0.08641	T	0.045918338	0.07598	0.07246291	0.15636	0.045918338	0.07597	0.07246291	0.15636	-6.146	0.49657	T	0.21341008423495667	0.28655	0.082	0.08802	B	.;.;.;.;.	.;.;.;.;.	2.581986	0.33479	19.35	0.95179950509414413	0.26348	0.43406	0.27091	N	AEFBI	0.170887	0.29782	N	-0.516965887911949	0.21532	1.143365	-0.440169544942217	0.23829	1.301541	0.0174988504366685	0.12957	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.99	3.16	0.35406	2.815000	0.47717	2.470000	0.32893	0.618000	0.50648	0.522000	0.27127	0.064000	0.22093	0.987000	0.62547	0.0829:0.1533:0.605:0.1588	4.683	0.12129	517	0.74620	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	3004.83	33	chr4	106171171	.	G	A	3004.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.67;DP=811;ExcessHet=0.119;FS=0.502;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.495;SOR=0.641	GT:AD:DP:GQ:PL	0/1:59,65:124:99:1752,0,1570	17	0	2	0
chr4	122240180	122240180	A	C	exonic	KIAA1109	.	nonsynonymous SNV	KIAA1109:NM_015312:exon27:c.A4498C:p.M1500L,KIAA1109:NM_001384125:exon29:c.A4498C:p.M1500L	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0143146056806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.021	0.58089	D	0.0	0.02946	B	0.0	0.01387	B	0.000061	0.52346	U	0.000000	0.997899	0.44295	D	0.805	0.20218	L	1.96	0.22270	T	-1.75	0.41428	N	0.269	0.32481	-0.9044	0.47515	T	0.164	0.50061	T	10	0.13613877	0.25903	T	0.014315	0.34357	T	0.087	0.25287	0.517	0.61763	0.489243007833	0.48558	0.5213087478871447	0.52053	0.489373666093	0.47703	0.50916326046	0.40104	T	0.035855	0.23881	T	-0.117204	0.33583	T	-0.406132	0.32672	T	0.562545746316954	0.34951	D	0.726327	0.34071	T	0.7148839	0.78877	0.63379616	0.78627	0.7148839	0.78878	0.63379616	0.78628	-1.941	0.02966	T	0.5143618247767036	0.58761	0.165	0.36315	B	.;.	.;.	2.023672	0.25718	16.86	0.97365808001498055	0.33598	0.96224	0.68106	D	AEFBI	0.424405	0.48959	N	0.163425408999101	0.49450	3.145213	0.267043543763254	0.53624	3.530538	0.819777504831937	0.24503	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.91	4.72	0.59248	5.048000	0.64050	5.173000	0.47836	-0.053000	0.16966	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.8334:0.1666:0.0:0.0	12.784	0.56870	841	0.37094	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1859.33	33	chr4	122240180	.	A	C	1859.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.278;DP=762;ExcessHet=0;FS=2.128;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.914;SOR=0.516	GT:AD:DP:GQ:PL	0/1:75,67:142:99:1873,0,2191	18	0	1	0
chr4	127704251	127704251	G	C	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon10:c.G1527C:p.R509S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1471	332.36	30	chr4	127704251	.	G	C	332.36	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-2.31;DP=979;ExcessHet=1.3;FS=250.412;InbreedingCoeff=-0.1783;MLEAC=5;MLEAF=0.147;MQ=60;MQRankSum=0;QD=1.02;ReadPosRankSum=-0.241;SOR=10.112	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,27:73:99:.:.:187,0,809:.	12	0	5	2
chr4	127886682	127886682	T	C	exonic	PLK4	.	nonsynonymous SNV	PLK4:NM_001190799:exon4:c.T1216C:p.S406P,PLK4:NM_001190801:exon5:c.T1189C:p.S397P,PLK4:NM_014264:exon5:c.T1312C:p.S438P	Microcephaly and chorioretinopathy, autosomal recessive, 2, Autosomal recessive	436	1084	2	0	0	2	0.000921659	.	.	.	989915	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.024	0.0102757050728	.	.	1.711e-05	0	0	0	0	3.093e-05	0	0	1.94e-05	3	154602	rs751170471	7.537e-06	7.525e-06	5.454e-06	9.641e-06	0.0003	4.05e-06	2.96e-06	6.105e-05	2.526e-05	0	0	0	0	0	0.0003	3.601e-06	3.317e-05	3.492e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.25979	T	0.294	0.25135	T	0.016	0.22967	B	0.007	0.24676	B	0.010693	0.29823	N	0.380726	1	0.08975	N	1.87	0.49600	L	0.73	0.50721	T	-0.13	0.22078	N	0.331	0.40264	-1.0191	0.24008	T	0.098	0.36780	T	10	0.07208517	0.10714	T	0.010276	0.26632	T	0.024	0.04979	0.198	0.11110	0.223474106383	0.21959	0.13405710952651795	0.13329	0.120451408447	0.13563	0.307452023029	0.11522	T	0.065182	0.32625	T	-0.304681	0.08224	T	-0.5748	0.15011	T	0.0508592299645482	0.05651	T	0.666133	0.27528	T	0.06974134	0.15305	0.069883205	0.14781	0.06974134	0.15304	0.069883205	0.14780	-4.171	0.26795	T	.	.	0.064	0.12181	B	.;.;.;.	.;.;.;.	1.208990	0.16017	12.26	0.80098439835172708	0.13044	0.23117	0.21971	N	AEFDBCI	0.090214	0.18281	N	-0.950658467266538	0.09678	0.4590869	-1.00529940486476	0.09668	0.4823516	0.999911848867231	0.45857	0.744818	0.98587	0	0.732433	0.95613	0	0.702456	0.68683	0	0.631177	0.49321	0	.	.	4.99	-0.372	0.11897	0.808000	0.26813	0.411000	0.18111	-0.194000	0.09177	0.004000	0.16614	0.000000	0.08366	0.104000	0.18471	0.0:0.2324:0.2945:0.4731	4.919	0.13213	839	0.37672	.;.;.;.	.	.	.	.	.	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	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1440.33	42	chr4	127886682	.	T	C	1440.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.901;DP=847;ExcessHet=0;FS=5.062;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.445;SOR=0.338	GT:AD:DP:GQ:PL	0/1:53,51:104:99:1454,0,1556	18	0	1	0
chr4	133152591	133152591	G	T	exonic	PCDH10	.	nonsynonymous SNV	PCDH10:NM_020815:exon1:c.G2451T:p.Q817H,PCDH10:NM_032961:exon1:c.G2451T:p.Q817H	.	421	1100	1	0	0	1	0.000454339	.	.	.	3374955	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.132	0.0170323834744	7.7e-05	0.000199681	9.894e-05	0	0	0	0	0.0002	0	6.059e-05	9.06e-05	14	154602	rs201300041	5.336e-05	5.336e-05	4.356e-05	6.325e-05	0.0003	4.344e-05	4.017e-05	6.092e-05	3.49e-05	0	2.236e-05	3.826e-05	0	9.362e-05	0.0003	4.946e-05	0.0001	6.956e-05	4.597e-05	4.593e-05	6.425e-05	2.687e-05	0.0002	2.108e-05	1.526e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.82e-05	0	0.0002	0.015	0.52492	D	0.023	0.57104	D	0.996	0.68779	D	0.986	0.76916	D	0.000640	0.42799	D	0.000000	0.999987	0.54805	D	2.485	0.72352	M	0.66	0.52416	T	-2.48	0.54059	N	0.332	0.46368	-0.7195	0.59488	T	0.196	0.55013	T	10	0.167294	0.31216	T	0.017032	0.38558	T	0.132	0.35948	0.46	0.52753	0.665728406546	0.66292	0.7006729739289805	0.70008	.	.	0.691704034805	0.65951	T	0.294959	0.66763	T	-0.200137	0.20785	T	-0.288591	0.45920	T	0.244012707860866	0.22602	T	0.837416	0.50983	T	0.28563133	0.51584	0.22452395	0.47368	0.28563133	0.51583	0.22452395	0.47367	-5.906	0.47403	T	.	.	0.480	0.63651	A	.;.	.;.	3.811237	0.54975	23.6	0.99300653447301923	0.58613	0.92215	0.55202	D	AEFDBHCI	0.823431	0.74354	D	0.335579680346145	0.57983	3.968088	0.416539213403462	0.62594	4.477574	0.999999993626258	0.74766	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.56214	0.19341	0	.	.	5.01	4.1	0.47196	6.317000	0.72825	9.827000	0.81838	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.1478:0.8522:0.0	14.476	0.67125	970	0.06235	.;Cadherin, cytoplasmic 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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	6855.81	53	chr4	133152591	.	G	T	6855.81	.	AC=2;AF=0.053;AN=38;DP=1000;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.19;SOR=0.954	GT:AD:DP:GQ:PL	1/1:0,213:213:99:6883,639,0	18	1	0	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4474	7878.87	96	chr4	140563137	.	C	G	7878.87	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.322;DP=1983;ExcessHet=31.086;FS=206.252;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.69;ReadPosRankSum=0;SOR=12.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,29:99:34:0|1:140563137_C_G:34,0,1904:140563137	2	0	17	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4737	9144.3	96	chr4	140563138	.	C	G	9144.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.858;DP=1991;ExcessHet=38.2876;FS=239.142;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=-0.093;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,41:96:99:0|1:140563137_C_G:385,0,949:140563137	1	0	18	0
chr4	151174946	151174946	G	C	exonic	SH3D19	.	nonsynonymous SNV	SH3D19:NM_001128924:exon1:c.C418G:p.P140A,SH3D19:NM_001378128:exon6:c.C418G:p.P140A,SH3D19:NM_001378131:exon6:c.C418G:p.P140A,SH3D19:NM_001009555:exon7:c.C418G:p.P140A,SH3D19:NM_001128923:exon7:c.C418G:p.P140A,SH3D19:NM_001243349:exon7:c.C418G:p.P140A,SH3D19:NM_001378121:exon7:c.C1258G:p.P420A,SH3D19:NM_001378122:exon7:c.C1258G:p.P420A,SH3D19:NM_001378126:exon7:c.C418G:p.P140A,SH3D19:NM_001378127:exon7:c.C418G:p.P140A,SH3D19:NM_001378130:exon7:c.C418G:p.P140A,SH3D19:NM_001378124:exon8:c.C1081G:p.P361A,SH3D19:NM_001378129:exon8:c.C418G:p.P140A,SH3D19:NM_001378123:exon9:c.C1081G:p.P361A	.	428	1086	8	0	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	0.016207777088	7.7e-05	.	0.0003	0	0.0003	0	0	0.0003	0.0022	0.0008	0.0002975	46	154602	rs371516037	0.0003	0.0003	0.0002	0.0003	0.0031	0.0002	0.0002	0.0020	0.0017	8.961e-05	8.944e-05	3.827e-05	0	1.872e-05	0.0031	0.0001	0.0004	0.0018	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0003	0.0002	2.413e-05	0	0.0005	0	0	0	0.0032	0.0002	0.0005	0.0006	0.0	0.91255	D	0.006	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.001841	0.37892	N	0.189775	0.999511	0.47363	D	2.51	0.73131	M	3.43	0.05440	T	-2.5	0.64478	D	0.481	0.65245	-1.2279	0.00034	T	0.061	0.25419	T	10	0.095012814	0.16939	T	0.016208	0.37354	T	0.270	0.58507	.	.	0.62732496935	0.62428	0.20923431588654354	0.20839	0.501798849962	0.48557	0.438127875328	0.30322	T	0.174194	0.52333	T	-0.359645	0.04150	T	-0.295858	0.45159	T	0.112191508850573	0.13649	T	0.90031	0.65351	D	0.11249227	0.26575	0.18727976	0.41951	0.11249227	0.26575	0.18727976	0.41950	-8.044	0.62330	D	.	.	0.141	0.57230	B	.;.;.;.;.;.	.;.;.;.;.;.	4.459472	0.69394	25.4	0.99124700893051321	0.53089	0.98921	0.88653	D	AEFDBI	0.699642	0.65692	D	0.61308048670061	0.74000	6.059056	0.550264342014769	0.71414	5.651501	0.999999973650614	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	6.887000	0.75425	11.906000	0.99484	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.522000	0.29520	0.0:0.0:1.0:0.0	20.305	0.98628	602	0.67834	.;.;.;.;.;.	.	.	.	.	.	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	0.004028	0.000000	0.002717	0.005848	0.000000	0.008621	0.006098	0.003788	0.05263	3716.83	35	chr4	151174946	.	G	C	3716.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.27;DP=918;ExcessHet=0.119;FS=1.325;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.418;SOR=0.615	GT:AD:DP:GQ:PL	0/1:87,76:163:99:1858,0,2489	17	0	2	0
chr4	165495613	165495613	C	T	exonic	CPE	.	nonsynonymous SNV	CPE:NM_001873:exon8:c.C1268T:p.A423V	.	424	1087	11	0	0	11	0.00503432	.	.	.	720827	not_provided|CPE-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.212	.	0.0035	0.000798722	0.0040	0.0007	0.0005	0	0.0171	0.0049	0.0088	0.0013	0.0038292	592	154602	rs142920534	0.0047	0.0048	0.0049	0.0046	0.0048	0.0046	0.0046	0.0047	0.0047	0.0007	0.0004	0.0143	0	0.0148	0.0012	0.0048	0.0046	0.0011	0.0045	0.0045	0.0039	0.0052	0.0049	0.0043	0.0041	0.0045	0.0043	0.0006	0.0110	0.0012	0.0161	0	0.0224	0	0.0049	0.0019	0.0008	0.077	0.34095	T	0.169	0.30534	T	0.045	0.21781	B	0.096	0.30313	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.865	0.21413	L	1.15	0.38236	T	-2.63	0.56466	D	0.824	0.81957	-1.0745	0.08452	T	0.053	0.22346	T	10	0.009472847	0.00214	T	.	.	.	0.212	0.50341	.	.	0.591414415077	0.58818	0.8741792497887454	0.87383	0.601913386964	0.55219	0.631652057171	0.57380	T	0.404034	0.76062	T	-0.264307	0.12400	T	-0.14871	0.59359	T	0.0359554029836692	0.02972	T	0.943806	0.78763	D	0.33953655	0.56243	0.30031005	0.56065	0.33953655	0.56243	0.30031005	0.56064	-5.486	0.41737	T	.	.	0.109	0.20780	B	.	.	3.084502	0.41504	21.4	0.9966392022967725	0.78138	0.94382	0.60987	D	AEFDBHCI	0.943691	0.94987	D	0.0628825825756097	0.44737	2.742347	0.284898424449954	0.54658	3.630052	0.99999999999753	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.65	5.65	0.86881	7.520000	0.80737	4.003000	0.41092	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	19.717	0.96122	982	0.03397	Peptidase M14, carboxypeptidase A	.	.	.	.	.	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	1	0	0.001511	0.005051	0.001359	0.000000	0.050000	0.000000	0.003049	0.000000	0.02632	858.33	35	chr4	165495613	.	C	T	858.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.244;DP=723;ExcessHet=0;FS=4.198;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=0.265;SOR=0.549	GT:AD:DP:GQ:PL	0/1:46,38:84:99:872,0,1200	18	0	1	0
chr4	176096560	176096560	A	G	exonic	WDR17	.	nonsynonymous SNV	WDR17:NM_001378103:exon2:c.A41G:p.D14G,WDR17:NM_170710:exon2:c.A41G:p.D14G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0325420795069	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1480602777	2.759e-06	3.42e-06	0	5.545e-06	3.616e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.616e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.0	0.92824	D	0.536	0.37827	P	0.091	0.29943	B	0.000111	0.50451	D	0.000000	1	0.81001	D	0	0.06538	N	0.29	0.58897	T	-0.1	0.08495	N	0.833	0.83781	-0.9723	0.36712	T	0.103	0.37919	T	10	0.68421155	0.71462	D	0.032542	0.54336	D	0.142	0.37995	0.387	0.40788	0.795510299367	0.79361	0.4742024181771265	0.47339	0.588328660276	0.54380	0.692150592804	0.66015	T	0.008938	0.08170	T	0.0784552	0.61859	D	-0.125081	0.61383	T	0.819668412208557	0.47748	D	0.79582	0.43907	T	0.16452813	0.36666	0.23964126	0.49318	0.16452813	0.36666	0.23964126	0.49317	-3.286	0.13558	T	.	.	0.108	0.27939	B	.;.	.;.	3.634752	0.51511	23.1	0.9979588408164658	0.88106	0.94880	0.62650	D	AEFI	0.590100	0.58672	D	0.0824078791410881	0.45644	2.817444	0.249417302056684	0.52616	3.435309	0.355103760932194	0.19722	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	5.671000	0.67765	9.186000	0.79105	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	1.0:0.0:0.0:0.0	14.359	0.66316	970	0.06235	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2144.33	37	chr4	176096560	.	A	G	2144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.529;DP=796;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.119;SOR=0.716	GT:AD:DP:GQ:PL	0/1:74,92:166:99:2158,0,1858	18	0	1	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF 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	.	.	.	.	.	.	.	.	0.2632	1776.23	84	chr4	176711629	.	G	C	1776.23	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-5.364;DP=1305;ExcessHet=6.9875;FS=98.024;InbreedingCoeff=-0.3577;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=0.755;SOR=10.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,15:89:99:0|1:176711629_G_C:157,0,2881:176711629	9	0	10	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1678376	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF 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	1	0	.	.	.	.	.	.	.	.	0.3889	2940.87	84	chr4	176711631	.	G	C	2940.87	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-1.406;DP=1611;ExcessHet=17.0548;FS=119.901;InbreedingCoeff=-0.6179;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=1.04;SOR=11.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,15:90:99:0|1:176711629_G_C:154,0,2902:176711629	4	0	14	1
chr4	184009557	184009557	G	A	exonic	STOX2	.	nonsynonymous SNV	STOX2:NM_020225:exon3:c.G719A:p.S240N	.	430	1051	40	1	0	42	0.0195896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	.	0.0012	0.00419329	0.0043	0.0002	0.0010	0.0001	0	0.0021	0.0034	0.0220	0.0037257	576	154602	rs200837182	0.0024	0.0024	0.0017	0.0031	0.0214	0.0023	0.0023	0.0206	0.0203	0.0002	0.0004	0.0147	2.519e-05	1.873e-05	0.0085	0.0009	0.0030	0.0214	0.0016	0.0016	0.0014	0.0019	0.0228	0.0015	0.0014	0.0193	0.0180	0.0001	0	0.0006	0.0121	0	0	0.0068	0.0011	0.0019	0.0228	0.046	0.40573	D	0.06	0.45744	T	0.987	0.61912	D	0.914	0.64984	D	0.000000	0.84330	D	0.120721	0.999848	0.49770	D	0.77	0.19370	N	-0.26	0.67187	T	-0.26	0.11185	N	0.696	0.70088	0.009	0.82435	D	0.496	0.80922	T	10	0.008596331	0.00195	T	.	.	.	0.261	0.57352	.	.	0.043077524339	0.03247	0.4272749328916834	0.42644	0.249684338131	0.27551	0.714204072952	0.69203	T	0.031042	0.21860	T	-0.385948	0.02856	T	-0.310908	0.43562	T	0.0377309019268772	0.03285	T	0.864214	0.56114	D	0.23295368	0.46092	0.23893042	0.49229	0.23295368	0.46092	0.23893042	0.49228	-6.718	0.51946	T	.	.	0.144	0.31808	B	.	.	3.812763	0.55007	23.6	0.99475083901262606	0.66579	0.99082	0.90959	D	AEFDBI	0.775595	0.70896	D	0.684559070834123	0.78620	6.908547	0.726427081052459	0.84383	8.277275	0.999999136482115	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	6.678000	0.74342	11.604000	0.93497	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.698	0.96034	858	0.34001	.	.	.	.	.	.	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	0.007049	0.000000	0.002717	0.002924	0.000000	0.008621	0.009146	0.022727	0.05263	5288.83	68	chr4	184009557	.	G	A	5288.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.2;DP=1859;ExcessHet=0.119;FS=1.665;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.534;SOR=0.606	GT:AD:DP:GQ:PL	0/1:90,101:191:99:2601,0,2479	17	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1944	1715.13	137	chr4	189957425	.	A	G	1715.13	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-0.209;DP=2042;ExcessHet=2.9153;FS=2.505;InbreedingCoeff=-0.2471;MLEAC=7;MLEAF=0.194;MQ=46.97;MQRankSum=-1.588;QD=2.23;ReadPosRankSum=-0.709;SOR=0.94	GT:AD:DP:GQ:PL	0/1:103,14:117:42:42,0,3147	11	0	7	1
chr5	139502	139502	T	C	exonic	PLEKHG4B	.	nonsynonymous SNV	PLEKHG4B:NM_052909:exon3:c.T263C:p.V88A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.181e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222002	0.38941	T	.	.	.	.	.	.	.	.	.	0.22354196624978348	0.22269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.775622	0.40735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.56838	A	.	.	2.509845	0.32413	19.03	0.7804946733693835	0.12134	0.86937	0.46332	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999992211393794	0.74766	0.252514	0.04256	0	0.063388	0.01293	0	0.295636	0.05589	0	0.062806	0.01542	0	0.653908	0.41844	2.55	2.55	0.29757	3.427000	0.52552	0.731000	0.21087	0.502000	0.22824	0.452000	0.26581	0.072000	0.22236	0.010000	0.09038	0.0:0.0:0.0:1.0	8.558	0.32657	964	0.07719	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	34.17	4	chr5	139502	.	T	C	34.17	.	AC=2;AF=0.071;AN=28;DP=34;ExcessHet=0;FS=0;InbreedingCoeff=0.2892;MLEAC=2;MLEAF=0.071;MQ=60;QD=17.09;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	13	1	0	5
chr5	434019	434019	C	T	exonic	AHRR	.	nonsynonymous SNV	AHRR:NM_001377236:exon11:c.C1279T:p.R427C,AHRR:NM_001377239:exon11:c.C1279T:p.R427C	.	400	1120	1	1	0	3	0.00133749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00857920226826	7.9e-05	0.000199681	4.617e-05	0	8.828e-05	0.0001	0	3.205e-05	0	9.779e-05	5.82e-05	9	154602	rs369824795	5.771e-05	6.43e-05	7.866e-05	3.643e-05	0.0011	4.753e-05	4.371e-05	0.0005	0.0003	3.04e-05	7.207e-05	0	7.58e-05	0	0.0011	5.536e-05	0.0001	3.674e-05	7.881e-05	7.874e-05	6.425e-05	9.403e-05	0.0002	4.495e-05	3.511e-05	5.845e-05	4.241e-05	4.813e-05	0	0	0	0.0002	0	0	0.0001	0	0.0002	0.282	0.19927	T	0.075	0.92824	T	0.004	0.13644	B	0.001	0.08700	B	0.845613	0.07026	N	1.073180	1	0.08975	N	0.805	0.20218	L	2.28	0.42122	T	-0.09	0.08340	N	0.044	0.01658	-0.9965	0.30892	T	0.080	0.31615	T	10	0.030716091	0.01200	T	0.008579	0.22680	T	0.018	0.03083	.	.	0.319402600006	0.31557	0.20328936030873337	0.20245	0.111945420288	0.12630	0.181391596794	0.00107	T	0.063603	0.32217	T	-0.401093	0.02277	T	-0.544619	0.17846	T	0.016882856506323	0.00440	T	0.576842	0.21689	T	0.05234639	0.09748	0.029687785	0.01334	0.05234639	0.09748	0.029687785	0.01334	-3.298	0.13997	T	.	.	0.071	0.13315	B	.;.;.;.;.	.;.;.;.;.	0.835173	0.12065	8.621	0.74973763792539894	0.10897	0.04394	0.09977	N	AEFDGBCI	0.051485	0.09100	N	-1.22708723316794	0.04611	0.2084477	-1.26577505119734	0.04901	0.2323106	0.999991303186654	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	4.92	-0.614	0.11009	0.801000	0.26716	-0.813000	0.07327	-0.231000	0.07715	0.007000	0.17678	0.000000	0.08366	0.002000	0.04165	0.0:0.4997:0.0:0.5003	8.274	0.31018	851	0.35303	.;.;.;.;.	.	.	.	.	.	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	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1038.33	37	chr5	434019	.	C	T	1038.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.13;DP=839;ExcessHet=0;FS=2.102;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=-1.576;SOR=0.441	GT:AD:DP:GQ:PL	0/1:29,38:67:99:1052,0,685	18	0	1	0
chr5	456900	456900	T	C	exonic	EXOC3	.	nonsynonymous SNV	EXOC3:NM_007277:exon5:c.T1058C:p.M353T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.0327483992177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.087	0.40747	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.95	0.09635	T	-5.07	0.82830	D	0.959	0.96871	-1.1558	0.00862	T	0.046	0.19720	T	10	0.85332453	0.84519	D	0.032748	0.54489	D	0.416	0.72631	.	.	0.448695639987	0.44491	0.7972939807111323	0.79682	1.36097439738	0.84334	0.697127759457	0.66729	T	.	.	.	0.231947	0.76904	D	0.0953997	0.76603	D	0.976268410682678	0.71301	D	0.693931	0.30359	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.85879	P	.;.	.;.	3.781491	0.54376	23.5	0.8777285513150509	0.17471	0.99768	0.99325	D	AEFGBI	0.864947	0.78389	D	0.409402838030544	0.61938	4.401956	0.419333730679179	0.62771	4.49814	0.999999999997734	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	7.273000	0.77921	7.758000	0.68250	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.346000	0.25568	0.0:0.0:0.0:1.0	13.968	0.63733	809	0.43032	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	210.33	46	chr5	456900	.	T	C	210.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.947;DP=874;ExcessHet=0;FS=103.352;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.45;ReadPosRankSum=0.701;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,26:145:99:0|1:456900_T_C:224,0,4759:456900	18	0	1	0
chr5	456901	456901	G	C	exonic	EXOC3	.	nonsynonymous SNV	EXOC3:NM_007277:exon5:c.G1059C:p.M353I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366	0.0271099031779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.03	0.54159	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	3.06	0.08634	T	-2.89	0.60665	D	0.888	0.88687	-1.2277	0.00034	T	0.062	0.25851	T	10	0.81497514	0.80745	D	0.02711	0.49956	D	0.366	0.68582	.	.	0.51149840189	0.50791	0.7405449523333545	0.73999	1.17867541497	0.79965	0.611596047878	0.54542	T	.	.	.	0.185596	0.72557	D	0.0288195	0.72202	D	0.964093804359436	0.66854	D	0.891311	0.62583	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.914	0.83884	P	.;.	.;.	4.212237	0.63645	24.6	0.99379336117839967	0.61803	0.99869	0.99902	D	AEFGBI	0.889648	0.82393	D	0.684126686693678	0.78592	6.902855	0.65103417915733	0.78689	6.926664	0.999999999999998	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	9.041000	0.93262	11.630000	0.93694	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.318000	0.24924	0.0:0.0:1.0:0.0	17.396	0.87335	809	0.43032	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	207.33	46	chr5	456901	.	G	C	207.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.367;DP=875;ExcessHet=0;FS=104.204;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=0.709;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,26:146:99:0|1:456900_T_C:221,0,4801:456900	18	0	1	0
chr5	456903	456903	G	C	exonic	EXOC3	.	nonsynonymous SNV	EXOC3:NM_007277:exon5:c.G1061C:p.R354T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00491174706199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.17584	T	0.414	0.14369	T	.	.	.	.	.	.	0.000000	0.84330	D	0.048576	0.96765	0.38608	D	.	.	.	3.34	0.06063	T	-0.64	0.18670	N	0.385	0.42639	-0.9437	0.42025	T	0.018	0.07282	T	10	0.22769243	0.39655	T	0.004912	0.12349	T	0.149	0.39377	.	.	0.043077524339	0.03247	0.5104654353507357	0.50968	0.755530937146	0.63995	0.412903040648	0.26859	T	.	.	.	-0.149893	0.28329	T	-0.453088	0.27356	T	0.73859828710556	0.42662	D	0.893211	0.63049	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27009	B	.;.	.;.	3.629771	0.51407	23.1	0.92190280456007834	0.21558	0.99424	0.95853	D	AEFGBI	0.790738	0.71954	D	-0.0571632889066456	0.39282	2.31405	0.1163447328848	0.45383	2.80254	0.999999999999998	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	7.081000	0.76522	11.630000	0.93694	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.246000	0.23158	0.0:0.0:1.0:0.0	17.396	0.87335	809	0.43032	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	204.33	46	chr5	456903	.	G	C	204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.9;DP=874;ExcessHet=0;FS=102.917;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.39;ReadPosRankSum=0.875;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,26:147:99:0|1:456900_T_C:218,0,4823:456900	18	0	1	0
chr5	456904	456904	G	C	exonic	EXOC3	.	nonsynonymous SNV	EXOC3:NM_007277:exon5:c.G1062C:p.R354S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00487546295081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.05772	T	0.605	0.07816	T	.	.	.	.	.	.	0.000000	0.84330	D	0.048576	0.978213	0.25263	N	.	.	.	3.47	0.05188	T	0.8	0.01866	N	0.356	0.39760	-0.9435	0.42057	T	0.009	0.03011	T	10	0.103606105	0.19055	T	0.004875	0.12224	T	0.180	0.45073	.	.	0.0675242888579	0.06100	0.49945505262421797	0.49866	0.56158804593	0.52659	0.390961647034	0.23806	T	.	.	.	-0.206441	0.19882	T	-0.534314	0.18859	T	0.1545639783144	0.17460	T	0.887111	0.61484	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26855	B	.;.	.;.	1.480195	0.19053	14.07	0.77944614042596394	0.12089	0.80637	0.40223	D	AEFGBI	0.224929	0.34909	N	-0.933739883060225	0.10060	0.4789768	-0.815091575412386	0.14129	0.7367127	0.999881363924076	0.44867	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.57	-0.641	0.10913	0.133000	0.15736	0.860000	0.22220	-0.106000	0.15538	0.965000	0.33920	0.998000	0.33993	0.204000	0.22012	0.5515:0.0:0.4485:0.0	9.801	0.39932	809	0.43032	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	204.33	46	chr5	456904	.	G	C	204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.224;DP=875;ExcessHet=0;FS=102.917;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.39;ReadPosRankSum=0.904;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,26:147:99:0|1:456900_T_C:218,0,4823:456900	18	0	1	0
chr5	1225604	1225604	C	G	exonic	SLC6A18	.	nonsynonymous SNV	SLC6A18:NM_182632:exon1:c.C127G:p.R43G	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.713	0.262667102352	0.0006	0.000599042	0.0014	0	0	0.0016	0.0068	0.0014	0.0059	8.049e-05	0.0010867	168	154602	rs149753564	0.0007	0.0007	0.0007	0.0007	0.0019	0.0007	0.0007	0.0015	0.0014	3.013e-05	0	0.0004	0.0019	0.0062	0.0002	0.0005	0.0008	0.0002	0.0009	0.0009	0.0007	0.0011	0.0023	0.0008	0.0007	0.0013	0.0010	4.81e-05	0	0	0.0006	0.0023	0.0075	0	0.0006	0.0005	0.0002	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	0.999139	0.46149	D	4.49	0.98946	H	-1.82	0.84047	D	-6.5	0.91609	D	0.89	0.88909	0.724	0.93470	D	0.823	0.94047	D	10	0.11447504	0.21539	T	0.262667	0.89570	D	0.713	0.89786	.	.	0.7960818893	0.79418	0.9169428837807593	0.91669	0.779189367419	0.65192	0.582666516304	0.50460	T	0.520737	0.83235	D	0.0687772	0.60701	T	0.285484	0.87419	D	0.237438497913003	0.22301	T	0.997467	0.98967	D	0.9197621	0.93225	0.8764369	0.93313	0.9197621	0.93226	0.8764369	0.93313	-14.199	0.93685	D	.	.	0.281	0.51367	B	.	.	2.642305	0.34385	19.61	0.99403457747795665	0.62934	0.67976	0.33629	D	AEFGBI	0.411190	0.48176	N	0.0675868305603666	0.44955	2.76029	-0.239950897909068	0.30119	1.693133	0.945171374086937	0.27648	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.12	-5.13	0.02665	-0.149000	0.10189	0.516000	0.19122	-0.316000	0.05924	0.728000	0.28902	0.934000	0.28616	0.100000	0.18284	0.253:0.747:0.0:0.0	18.904	0.92425	929	0.16858	.	.	.	.	.	.	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	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	1755.33	72	chr5	1225604	.	C	G	1755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=1190;ExcessHet=0;FS=0.619;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-1.963;SOR=0.613	GT:AD:DP:GQ:PL	0/1:76,70:146:99:1769,0,1744	18	0	1	0
chr5	14751196	14751196	C	T	exonic	ANKH	.	nonsynonymous SNV	ANKH:NM_054027:exon5:c.G560A:p.R187Q	Chondrocalcinosis 2, Autosomal dominant;Craniometaphyseal dysplasia, Autosomal dominant	0	1513	8	1	0	10	0.00329381	.	.	.	301621	ANKH-related_disorder|not_provided|Chondrocalcinosis_2|not_specified|Craniometaphyseal_dysplasia,_autosomal_dominant	.|MedGen:C3661900|MONDO:MONDO:0007319,MedGen:C0856830,OMIM:118600,Orphanet:1416|MedGen:CN169374|MONDO:MONDO:0007397,MedGen:C1852502,OMIM:123000,Orphanet:1522	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.308	0.108883188274	0.0056	0.00179712	0.0031	0.0009	0.0007	0	0.0005	0.0048	0.0044	0.0022	0.0033958	525	154602	rs146886108	0.0054	0.0054	0.0055	0.0053	0.0065	0.0053	0.0052	0.0064	0.0064	0.0008	0.0013	7.652e-05	7.557e-05	0.0005	0.0028	0.0065	0.0047	0.0021	0.0033	0.0033	0.0037	0.0029	0.0059	0.0031	0.0030	0.0054	0.0052	0.0011	0.0022	0.0028	0	0	0.0002	0	0.0059	0.0019	0.0019	0.796	0.03150	T	0.627	0.07267	T	0.811	0.45403	P	0.238	0.38539	B	0.000033	0.55875	D	0.159419	0.938045	0.81001	D	0	0.06538	N	-3.45	0.94469	D	0.38	0.03579	N	0.335	0.37613	-0.0804	0.80545	T	0.421	0.76603	T	10	0.013764143	0.00291	T	0.108883	0.78561	D	0.308	0.62947	.	.	0.852315435993	0.85089	0.2346333226589455	0.23378	1.02054565552	0.75098	0.462013542652	0.33587	T	0.40559	0.76172	T	-0.284642	0.10181	T	-0.173683	0.57105	T	0.0222127914652502	0.00933	T	0.857914	0.54791	D	0.047855694	0.08248	0.04917899	0.07460	0.047855694	0.08247	0.04917899	0.07460	-3.772	0.20387	T	0.08777392143704406	0.05193	0.071	0.04002	B	.	.	2.796443	0.36774	20.3	0.92613854909939697	0.22080	0.77807	0.38300	D	AEFDBI	0.159931	0.28580	N	-0.354397850382536	0.27111	1.484849	-0.196141527609113	0.31677	1.795026	0.999990766592323	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.51	4.65	0.57626	2.163000	0.42004	4.798000	0.44948	-0.172000	0.11096	0.888000	0.31154	1.000000	0.68203	0.989000	0.64315	0.0:0.9266:0.0:0.0734	13.739	0.62322	883	0.28872	.	.	.	.	.	.	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	0.002022	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.003817	0.05263	3067.83	33	chr5	14751196	.	C	T	3067.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.91;DP=840;ExcessHet=0.119;FS=5.31;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.746;SOR=0.759	GT:AD:DP:GQ:PL	0/1:66,52:118:99:1425,0,1728	17	0	2	0
chr5	32710699	32710699	C	T	exonic	NPR3	.	nonsynonymous SNV	NPR3:NM_001204376:exon1:c.C37T:p.P13S,NPR3:NM_001363652:exon1:c.C37T:p.P13S,NPR3:NM_001364460:exon1:c.C37T:p.P13S	.	401	1119	2	0	0	2	0.000892857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0430064151345	.	.	7.472e-05	0	0	0	0	0.0002	0	0	6.5e-06	1	154602	rs749396325	6.026e-05	5.746e-05	5.803e-05	6.256e-05	0.0037	4.974e-05	4.579e-05	0.0025	0.0021	9.569e-05	5.705e-05	0	0	6.235e-05	0.0037	4.271e-05	0.0001	3.84e-05	3.939e-05	3.937e-05	1.285e-05	6.713e-05	0.0002	1.714e-05	1.129e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0.0002	0.288	0.15098	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.54	0.81640	D	0.88	0.01664	N	0.025	0.02861	-0.9685	0.37510	T	0.189	0.53945	T	9	0.047358423	0.04044	T	0.043006	0.60760	D	0.109	0.30843	0.346	0.34112	0.337621943819	0.33374	.	.	.	.	.	.	.	0.001987	0.01394	T	-0.386612	0.02828	T	-0.567416	0.15687	T	0.0216425377875566	0.00869	T	0.476552	0.14308	T	.	.	.	.	.	.	.	.	-3.286	0.13558	T	.	.	0.093	0.15115	B	.;.	.;.	0.546253	0.09146	5.931	0.91558685825796726	0.20837	0.01434	0.04823	N	ALL	0.063553	0.12288	N	-1.31892207533836	0.03459	0.154541	-1.30599138393156	0.04352	0.2050969	0.999999729916434	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.608004	0.38603	0	0.603991	0.37454	0	.	.	3.57	0.804	0.17840	-0.437000	0.06984	-0.433000	0.09209	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	0.0:0.4979:0.2488:0.2533	3.871	0.08542	854	0.34840	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1371.33	34	chr5	32710699	.	C	T	1371.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=714;ExcessHet=0;FS=6.583;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.31;ReadPosRankSum=-0.163;SOR=0.259	GT:AD:DP:GQ:PL	0/1:25,46:71:99:1385,0,652	18	0	1	0
chr5	35646682	35646682	A	G	exonic	SPEF2	.	nonsynonymous SNV	SPEF2:NM_024867:exon5:c.A601G:p.R201G,SPEF2:NM_144722:exon5:c.A601G:p.R201G	.	436	1032	52	2	0	56	0.0264151	.	.	.	3185083	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.128	.	0.0058	0.00878594	0.0089	0.0011	0.0049	0.0003	0.0018	0.0066	0.0122	0.0331	0.0081694	1263	154602	rs80010329	0.0081	0.0082	0.0073	0.0090	0.0339	0.0080	0.0080	0.0328	0.0324	0.0011	0.0066	0.0021	2.524e-05	0.0020	0.0295	0.0071	0.0077	0.0339	0.0059	0.0059	0.0057	0.0061	0.0312	0.0055	0.0054	0.0272	0.0256	0.0012	0.0033	0.0092	0.0023	0.0008	0.0011	0.0102	0.0075	0.0071	0.0312	0.007	0.61437	D	0.011	0.69154	D	0.999	0.77913	D	0.936	0.79672	D	0.000010	0.62929	D	0.106914	0.975574	0.39200	D	2.585	0.75554	M	2.44	0.23082	T	-4.01	0.76576	D	0.669	0.69125	-0.9723	0.36712	T	0.104	0.38144	T	10	0.0059509277	0.00133	T	.	.	.	0.128	0.35103	.	.	0.280181792013	0.27631	0.34883728264109054	0.34797	0.0598001417922	0.06652	0.390581935644	0.23751	T	0.126954	0.67848	T	-0.279306	0.10741	T	-0.149605	0.59278	T	0.0231520665780728	0.01041	T	0.890711	0.64723	D	0.26254478	0.49316	0.36515856	0.61870	0.26254478	0.49316	0.36515856	0.61870	-7.081	0.55796	T	.	.	0.324	0.58942	B	.;.;.;.;.;.	.;.;.;.;.;.	4.926798	0.81191	27.5	0.99854414740950403	0.93368	0.93860	0.59400	D	AEFI	0.746136	0.68860	D	0.686472731394631	0.78746	6.934124	0.683200252497875	0.81105	7.449289	0.988114933324361	0.31422	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.76	5.76	0.90726	5.017000	0.63813	11.264000	0.91177	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8504:0.1496:0.0:0.0	11.533	0.49870	581	0.69614	.;.;.;.;.;.	.	.	.	.	.	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	1	0	0.024673	0.010101	0.025815	0.017544	0.000000	0.051724	0.012195	0.060606	0.05263	1435.83	33	chr5	35646682	.	A	G	1435.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.476;DP=736;ExcessHet=0.119;FS=4.795;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=0.174;SOR=1.068	GT:AD:DP:GQ:PL	0/1:55,21:76:99:403,0,1488	17	0	2	0
chr5	35771734	35771734	A	C	exonic	SPEF2	.	nonsynonymous SNV	SPEF2:NM_024867:exon27:c.A3927C:p.K1309N	.	.	.	.	.	.	.	.	.	.	.	2427631	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.00550760798978	0.0002	.	6.771e-05	0	0	0	0	0.0001	0	0	6.47e-05	10	154602	rs377531929	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0	5.244e-05	0	0	0	0	0.0002	0.0002	6.182e-05	6.57e-05	6.567e-05	0.0001	2.69e-05	0.0002	3.516e-05	2.616e-05	5.285e-05	2.835e-05	0	0	0.0002	0	0	0	0	8.82e-05	0.0005	0	0.311	0.14207	T	0.299	0.20811	T	0.001	0.09854	B	0.001	0.08700	B	0.844690	0.07021	N	1.063200	0.94721	0.26607	N	2.085	0.57729	M	2.96	0.09542	T	-1.58	0.38151	N	0.207	0.22998	-1.0550	0.13040	T	0.030	0.12760	T	10	0.05512169	0.05975	T	0.005508	0.14197	T	0.038	0.09825	0.211	0.12923	0.0482279557977	0.04254	0.130610935694144	0.12986	0.03212426349	0.03340	0.363018095493	0.19825	T	0.018456	0.29991	T	-0.48896	0.00658	T	-0.703465	0.05639	T	0.0431703074204647	0.04269	T	0.576842	0.20728	T	0.12744206	0.29821	0.10016269	0.23940	0.12744206	0.29821	0.10016269	0.23940	-5.249	0.39435	T	.	.	0.201	0.42477	B	.;.;.	.;.;.	0.683071	0.10515	7.229	0.95929661006846367	0.28211	0.09240	0.15036	N	AEFGBHCI	0.119732	0.23355	N	-0.63926144592434	0.17774	0.9174506	-0.610987182495193	0.19210	1.029703	0.999998070924034	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.68	3.31	0.37025	0.089000	0.14843	0.481000	0.18806	0.691000	0.84096	0.031000	0.20493	0.002000	0.18203	0.165000	0.20815	0.8199:0.0:0.1801:0.0	6.775	0.22802	518	0.74548	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1867.33	35	chr5	35771734	.	A	C	1867.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.882;DP=784;ExcessHet=0;FS=1.999;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-1.336;SOR=0.513	GT:AD:DP:GQ:PL	0/1:79,79:158:99:1881,0,2100	18	0	1	0
chr5	38933380	38933380	C	G	exonic	OSMR	.	nonsynonymous SNV	OSMR:NM_001323505:exon18:c.C2876G:p.P959R,OSMR:NM_001323506:exon18:c.C2879G:p.P960R,OSMR:NM_003999:exon18:c.C2876G:p.P959R	Amyloidosis, primary localized cutaneous, 1, Autosomal dominant	1	1361	149	11	0	171	0.0591082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.029204	0.030303	0.021739	0.029240	0.000000	0.017241	0.048780	0.041667	0.1053	7115.43	33	chr5	38933380	.	C	G	7115.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.67;DP=1141;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.513;SOR=0.681	GT:AD:DP:GQ:PL	0/1:80,77:157:99:2063,0,2074	15	0	4	0
chr5	39389886	39389886	T	C	exonic	DAB2	.	nonsynonymous SNV	DAB2:NM_001244871:exon6:c.A509G:p.Y170C,DAB2:NM_001343:exon6:c.A509G:p.Y170C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.615	0.0210536932037	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1194308245	7.622e-06	8.893e-06	6.899e-06	8.352e-06	8.281e-05	4.09e-06	2.99e-06	3.834e-05	2.706e-05	0	0	0	0	0	0	2.728e-06	1.675e-05	8.281e-05	6.565e-06	6.562e-06	0	1.343e-05	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.024	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.978	0.75793	D	0.000000	0.84330	D	0.049791	0.999988	0.54805	D	1.83	0.48079	L	1.43	0.32958	T	-7.72	0.95696	D	0.96	0.97961	-0.9161	0.46076	T	0.148	0.47398	T	10	0.9416495	0.93490	D	0.021054	0.43768	T	0.615	0.84986	0.833	0.94168	0.817131274076	0.81540	0.47423420172466785	0.47342	0.439492444205	0.43977	0.773605883121	0.77965	T	0.52817	0.83623	D	0.239534	0.77617	D	0.106297	0.77326	D	0.98533684015274	0.76359	D	0.966353	0.88511	D	0.8618442	0.88227	0.8423418	0.90993	0.8618442	0.88228	0.8423418	0.90994	-10.902	0.79118	D	.	.	0.577	0.67928	P	.;.;.;.	.;.;.;.	5.158949	0.86435	28.9	0.99390582528480731	0.62337	0.96444	0.69170	D	AEFBI	0.892429	0.82936	D	0.65341177604512	0.76589	6.514632	0.678302601495437	0.80736	7.365343	0.999999990364593	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	5.94	5.94	0.96165	4.994000	0.63640	6.109000	0.53642	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.407	0.83529	596	0.68392	.;.;PTB/PI domain|PTB/PI domain|PTB/PI 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	.	.	.	.	.	.	.	.	0.02632	940.33	35	chr5	39389886	.	T	C	940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.682;DP=696;ExcessHet=0;FS=5.106;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=-0.273;SOR=0.405	GT:AD:DP:GQ:PL	0/1:24,37:61:99:954,0,600	18	0	1	0
chr5	40852608	40852608	G	C	exonic	CARD6	.	nonsynonymous SNV	CARD6:NM_032587:exon3:c.G1276C:p.D426H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.00775411271985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.029	0.54541	D	0.995	0.67487	D	0.819	0.59018	P	0.380602	0.13394	N	0.699309	1	0.81001	D	3.06	0.86941	M	2.43	0.15261	T	-4.87	0.81269	D	0.231	0.25989	-1.0235	0.22573	T	0.097	0.36315	T	10	0.3064858	0.48158	T	0.007754	0.20563	T	0.197	0.47942	0.268	0.21576	0.479518371956	0.47582	0.461977430210945	0.46115	0.0586957381805	0.06515	0.310545355082	0.11989	T	0.230079	0.59606	T	-0.110033	0.34761	T	-0.395831	0.33870	T	0.929695188999176	0.59392	D	0.690331	0.29972	T	0.21736588	0.44218	0.33417308	0.59245	0.21736588	0.44218	0.33417308	0.59245	-6.33	0.48959	T	.	.	0.228	0.45978	B	.	.	3.324145	0.45731	22.2	0.99432273443457886	0.64325	0.91241	0.53137	D	AEFBI	0.418192	0.48593	N	0.561099383594073	0.70760	5.549131	0.507770818156445	0.68511	5.23033	0.99995613665939	0.48110	0.706548	0.73137	0	0.670034	0.63936	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.49	3.57	0.40014	3.143000	0.50304	4.085000	0.41766	0.676000	0.76740	1.000000	0.71638	0.782000	0.26788	0.969000	0.54022	0.181:0.0:0.819:0.0	9.575	0.38615	480	0.77422	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1808.33	34	chr5	40852608	.	G	C	1808.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.92;DP=790;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=1.34;SOR=0.657	GT:AD:DP:GQ:PL	0/1:86,67:153:99:1822,0,2645	18	0	1	0
chr5	43292541	43292541	C	T	exonic	HMGCS1	.	nonsynonymous SNV	HMGCS1:NM_001324223:exon8:c.G1280A:p.R427H,HMGCS1:NM_001324219:exon9:c.G1406A:p.R469H,HMGCS1:NM_001324222:exon9:c.G1280A:p.R427H,HMGCS1:NM_001324224:exon9:c.G1280A:p.R427H,HMGCS1:NM_002130:exon9:c.G1406A:p.R469H,HMGCS1:NM_001098272:exon10:c.G1406A:p.R469H,HMGCS1:NM_001324220:exon10:c.G1406A:p.R469H,HMGCS1:NM_001330663:exon10:c.G1406A:p.R469H,HMGCS1:NM_001364188:exon10:c.G1406A:p.R469H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.0325827302029	.	.	1.652e-05	0	0	0	0	3.003e-05	0	0	1.29e-05	2	154602	rs758162734	5.473e-06	5.472e-06	4.084e-06	6.876e-06	5.04e-05	2.35e-06	1.7e-06	8.35e-06	3.12e-06	0	2.237e-05	0	5.04e-05	0	0	4.497e-06	0	0	1.313e-05	1.312e-05	1.285e-05	1.343e-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	0.036	0.43393	D	0.034	0.52727	D	0.008	0.14655	B	0.005	0.11217	B	0.000000	0.84330	D	0.049773	0.999999	0.58761	D	1.5	0.37844	L	-1.1	0.77336	T	-1.62	0.38924	N	0.242	0.27435	-0.5718	0.65943	T	0.340	0.70600	T	10	0.23952329	0.41094	T	0.032583	0.54372	D	0.293	0.61272	0.525	0.62967	0.639948015698	0.63697	0.5886589527023631	0.58795	0.104041796668	0.11770	0.514060258865	0.40790	T	0.472447	0.80472	T	-0.0730037	0.40846	T	-0.173513	0.57121	T	0.511849939823151	0.33066	D	0.893211	0.63049	D	0.22183475	0.44770	0.11716234	0.28283	0.22183475	0.44770	0.11716234	0.28282	-6.95	0.53668	T	.	.	0.105	0.19438	B	.;.	.;.	3.796241	0.54670	23.5	0.99853049601348254	0.93191	0.98984	0.89542	D	AEFGBI	0.779736	0.71185	D	0.0487683615259996	0.44085	2.689131	0.244715176172131	0.52349	3.410366	0.999999999999724	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.48	5.48	0.80675	5.290000	0.65464	5.843000	0.50266	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	19.338	0.94312	363	0.84772	Hydroxymethylglutaryl-coenzyme A synthase C-terminal domain;Hydroxymethylglutaryl-coenzyme A synthase 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	.	.	.	.	.	.	.	.	0.02632	70.33	33	chr5	43292541	.	C	T	70.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.628;DP=737;ExcessHet=0;FS=88.013;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.27;SOR=6.592	GT:AD:DP:GQ:PL	0/1:87,26:113:84:84,0,1953	18	0	1	0
chr5	71055434	71055434	A	T	exonic	GTF2H2;GTF2H2C_2	.	nonsynonymous SNV	GTF2H2C_2:NM_001354439:exon7:c.T217A:p.S73T,GTF2H2:NM_001364572:exon7:c.T217A:p.S73T,GTF2H2C_2:NM_001354437:exon8:c.T388A:p.S130T,GTF2H2C_2:NM_001354438:exon8:c.T388A:p.S130T,GTF2H2:NM_001364568:exon8:c.T388A:p.S130T,GTF2H2:NM_001364569:exon8:c.T388A:p.S130T,GTF2H2:NM_001364570:exon8:c.T388A:p.S130T,GTF2H2:NM_001515:exon8:c.T388A:p.S130T,GTF2H2C_2:NM_001042490:exon9:c.T388A:p.S130T,GTF2H2:NM_001364567:exon9:c.T388A:p.S130T,GTF2H2:NM_001364571:exon9:c.T388A:p.S130T,GTF2H2:NM_001364573:exon9:c.T220A:p.S74T	.	613	904	4	1	0	6	0.00330761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00614605245563	0.0022	0.000599042	0.0034	0.0018	0.0019	0	0.0038	0.0050	0.0014	0.0007	0.0022898	354	154602	rs201330591	0.0045	0.0045	0.0046	0.0044	0.0055	0.0044	0.0044	0.0051	0.0050	0.0006	0.0021	0.0068	0	0.0026	0.0055	0.0052	0.0044	0.0005	0.0032	0.0032	0.0031	0.0033	0.0060	0.0030	0.0029	0.0050	0.0046	0.0009	0.0011	0.0060	0.0045	0	0.0012	0	0.0046	0.0047	0.0002	0.076	0.34269	T	0.114	0.36765	T	0.004	0.12183	B	0.007	0.12992	B	0.000000	0.84330	D	0.052093	0.972266	0.81001	D	0	0.06538	N	1.46	0.32238	T	-0.65	0.18877	N	0.317	0.35727	-1.0784	0.07661	T	0.034	0.14552	T	10	0.014356405	0.00302	T	0.006146	0.16082	T	0.070	0.20419	.	.	0.355073828461	0.35122	0.41569285944045586	0.41485	1.55511015912	0.87952	0.649873197079	0.59968	T	0.08144	0.36599	T	-0.507903	0.00516	T	-0.506647	0.21661	T	0.0116420732163634	0.00178	T	0.853215	0.53849	D	0.39439574	0.60342	0.14320989	0.34043	0.39439574	0.60343	0.14320989	0.34042	-6.57	0.50823	T	.	.	0.073	0.04847	B	.;.	.;.	1.985071	0.25217	16.68	0.95065374630709787	0.26098	0.81841	0.41166	D	AEFI	0.502631	0.53496	D	-0.487274450955029	0.22498	1.201676	-0.375540651516153	0.25729	1.416678	4.22632434225209E-5	0.03989	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	2.36	2.36	0.28258	4.874000	0.62758	6.853000	0.56743	0.359000	0.20063	1.000000	0.71638	1.000000	0.68203	0.333000	0.25271	0.5684:0.4316:0.0:0.0	6.547	0.21611	958	0.09170	Ssl1-like|von Willebrand factor, type A|von Willebrand factor, type A|Ssl1-like;Ssl1-like|von Willebrand factor, type A|von Willebrand factor, type A|Ssl1-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	0.003812	0.000000	0.001408	0.004545	0.000000	0.008929	0.012295	0.000000	0.02632	1531.33	34	chr5	71055434	.	A	T	1531.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.224;DP=763;ExcessHet=0;FS=4.276;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.83;MQRankSum=-4.13;QD=16.12;ReadPosRankSum=0.646;SOR=0.336	GT:AD:DP:GQ:PL	0/1:32,63:95:99:1545,0,778	18	0	1	0
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T,ANKRD31:NM_001372053:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0320185438598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.067e-06	5.908e-05	3.014e-06	3.121e-06	3.869e-06	7.2e-07	4.8e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.08	0.76473	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.705	0.44259	L	0.06	0.61798	T	0.5	0.02945	N	0.144	0.33904	-0.9725	0.36670	T	0.133	0.44622	T	7	0.07310486	0.11001	T	0.032019	0.53954	D	0.208	0.49714	0.399	0.42753	0.0666544352282	0.05500	0.1179940654002401	0.11726	.	.	0.431646108627	0.29434	T	6.79E-4	0.00299	T	-0.0895452	0.38151	T	-0.366402	0.37308	T	0.0622141301128149	0.07513	T	0.622038	0.23930	T	0.046649564	0.07844	0.065477386	0.13277	0.046649564	0.07844	0.065477386	0.13277	-3.908	0.22423	T	.	.	0.159	0.35204	B	.;.	.;.	-0.613964	0.01534	0.099	0.95776924258942753	0.27794	0.03341	0.08421	N	AEFI	0.072667	0.14510	N	-0.919827703521214	0.10379	0.4956785	-1.06350639893966	0.08427	0.4143377	9.32791732047118E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-2.42	0.06164	-1.019000	0.03733	-0.266000	0.10387	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.406:0.1456:0.1685:0.28	0.344	0.00315	845	0.36510	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2632	680.05	58	chr5	75146001	.	A	G	680.05	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.908;DP=1586;ExcessHet=6.9875;FS=78.135;InbreedingCoeff=-0.3633;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=1.52;SOR=10.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,20:98:99:.:.:179,0,1777:.	9	0	10	0
chr5	79737121	79737121	T	C	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.T8356C:p.F2786L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00429156060246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.027e-05	0.0012	1.322e-05	7.332e-06	6.329e-05	5.96e-06	4.66e-06	1.048e-05	4.22e-06	6.329e-05	0	0	0	0	0	1.076e-05	0	1.189e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.535	0.09931	T	0.307	0.32716	B	0.06	0.26717	B	0.477143	0.12208	N	0.730444	1	0.08975	N	0.55	0.14455	N	1.34	0.34841	T	-0.47	0.15178	N	0.068	0.04072	-1.0516	0.13954	T	0.048	0.20553	T	10	0.045761734	0.03686	T	0.004292	0.10404	T	0.022	0.04323	0.101	0.01536	0.0611884634855	0.05136	0.02498130375506089	0.02449	0.0683822844331	0.07654	0.305985629559	0.11300	T	0.019747	0.15676	T	-0.330161	0.06099	T	-0.71203	0.05191	T	0.0498282739417066	0.05471	T	0.564244	0.19889	T	0.05796542	0.11602	0.06227273	0.12156	0.05796542	0.11601	0.06227273	0.12155	-3.668	0.18847	T	.	.	0.511	0.65065	A	.	.	0.546264	0.09146	5.931	0.91598307684938896	0.20881	0.01020	0.03837	N	AEFBI	0.024890	0.01614	N	-0.86627449370109	0.11652	0.56346	-0.947118491995255	0.10990	0.5571424	0.997221251754495	0.35393	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.75	-1.25	0.08920	0.156000	0.16200	0.233000	0.16214	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.174000	0.21107	0.0:0.3042:0.3133:0.3826	4.559	0.11546	419	0.81524	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1176	66.34	86	chr5	79737121	.	T	C	66.34	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-3.622;DP=1483;ExcessHet=0.7564;FS=179.988;InbreedingCoeff=-0.1331;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=0.17;ReadPosRankSum=0.685;SOR=9.967	GT:AD:DP:GQ:PL	0/1:93,23:116:8:8,0,2218	13	0	4	2
chr5	90779004	90779004	G	A	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon64:c.G12989A:p.R4330K	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	1	1519	2	0	0	2	0.000657895	.	.	.	654407	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.00556402836181	.	0.000599042	0.0006	0	0	0	0	0	0	0.0046	0.000511	79	154602	rs532605331	0.0003	0.0003	0.0001	0.0004	0.0046	0.0003	0.0003	0.0042	0.0040	2.99e-05	0	0	0	0	0	1.17e-05	0.0002	0.0046	9.2e-05	9.188e-05	3.857e-05	0.0001	0.0029	5.528e-05	4.365e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0	0.0029	0.909	0.02372	T	0.924	0.02835	T	0.011	0.15914	B	0.016	0.17743	B	0.822170	0.09170	N	0.930810	1	0.08975	N	.	.	.	1.31	0.35405	T	-0.16	0.09460	N	0.124	0.11626	-1.0259	0.21788	T	0.034	0.14464	T	10	0.00812155	0.00184	T	0.005564	0.14349	T	0.021	0.04004	0.57	0.69299	0.12205267543	0.11705	0.28335879551702153	0.28248	0.0485524178802	0.05306	0.253803789616	0.04179	T	0.072559	0.34484	T	-0.642866	0.00080	T	-0.695531	0.06073	T	0.0125205970084323	0.00207	T	0.305069	0.05837	T	0.04470809	0.07193	0.037301484	0.03355	0.04470809	0.07192	0.037301484	0.03355	-3.152	0.11903	T	.	.	0.078	0.11317	B	.;.;.	.;.;.	-0.969799	0.00815	0.027	0.58317433659733053	0.05966	0.07169	0.13194	N	AEFBI	0.087862	0.17815	N	-1.4265910955155	0.02407	0.1062583	-1.44011872056272	0.02861	0.1323857	0.00229091767094435	0.09294	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.6	-5.25	0.02567	-1.678000	0.02044	-6.004000	0.01526	-0.105000	0.15698	0.000000	0.06391	0.000000	0.08366	0.467000	0.28274	0.1534:0.4379:0.1749:0.2338	2.799	0.05076	657	0.62240	.;.;Na-Ca exchanger/integrin-beta4|Na-Ca exchanger/integrin-beta4	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2800.33	42	chr5	90779004	.	G	A	2800.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.432;DP=807;ExcessHet=0;FS=1.241;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.77;ReadPosRankSum=0.732;SOR=0.825	GT:AD:DP:GQ:PL	0/1:65,102:167:99:2814,0,1686	18	0	1	0
chr5	95436867	95436867	-	C	exonic	FAM81B	.	frameshift insertion	FAM81B:NM_152548:exon7:c.854_855insC:p.Q285Hfs*21	.	439	1068	14	1	0	16	0.00743494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0065	.	0.0048	0.0014	0.0016	0	0.0005	0.0063	0.0045	0.0073	0.0012294	32	26028	rs373017124	0.0059	0.0060	0.0060	0.0058	0.0075	0.0058	0.0058	0.0062	0.0062	0.0009	0.0020	0.0168	0	0.0010	0.0075	0.0063	0.0064	0.0066	0.0044	0.0044	0.0043	0.0045	0.0065	0.0041	0.0040	0.0060	0.0058	0.0011	0	0.0031	0.0248	0	0.0006	0	0.0065	0.0038	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006546	0.000000	0.002717	0.005848	0.050000	0.000000	0.015244	0.011364	0.02632	1915.29	33	chr5	95436867	.	A	AC	1915.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.318;DP=741;ExcessHet=0;FS=2.388;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.37;ReadPosRankSum=-0.153;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,53:117:99:0|1:95436867_A_AC:1929,0,2525:95436867	18	0	1	0
chr5	95436872	95436872	G	A	exonic	FAM81B	.	nonsynonymous SNV	FAM81B:NM_152548:exon7:c.G859A:p.D287N	.	439	1068	14	1	0	16	0.00743494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00538752560431	.	.	0.0048	0.0016	0.0016	0	0.0005	0.0063	0.0045	0.0073	0.0044631	690	154602	rs201688877	0.0059	0.0060	0.0060	0.0058	0.0075	0.0058	0.0058	0.0062	0.0062	0.0010	0.0020	0.0168	5.04e-05	0.0010	0.0075	0.0063	0.0064	0.0066	0.0044	0.0044	0.0043	0.0045	0.0065	0.0041	0.0040	0.0060	0.0058	0.0012	0	0.0031	0.0248	0	0.0006	0	0.0065	0.0038	0.0060	0.083	0.33091	T	0.107	0.37730	T	.	.	.	.	.	.	0.000069	0.52346	D	0.122706	0.986949	0.24567	N	.	.	.	1.95	0.22474	T	-1.92	0.44657	N	0.219	0.24510	-1.0032	0.28992	T	0.097	0.36315	T	10	0.0063349307	0.00143	T	0.005388	0.13832	T	0.137	0.36984	.	.	0.278143212241	0.27437	0.21449996010531316	0.21365	0.109081632923	0.12296	0.457668781281	0.32991	T	.	.	.	-0.614857	0.00118	T	-0.651831	0.08826	T	0.0325736749937369	0.02400	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27463	B	.	.	2.568296	0.33279	19.29	0.9989743163314726	0.96971	0.83926	0.43016	D	AEFDI	0.299339	0.40842	N	0.596596665877726	0.72961	5.888983	0.59403733528744	0.74510	6.149495	0.508603302744433	0.21001	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.47	5.47	0.80345	1.685000	0.37277	5.830000	0.50156	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0822:0.0:0.9178:0.0	12.256	0.53939	629	0.65079	.	.	.	.	.	.	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	0.006546	0.000000	0.002717	0.005848	0.050000	0.000000	0.015244	0.011364	0.02632	1865.33	33	chr5	95436872	.	G	A	1865.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=737;ExcessHet=0;FS=2.43;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.22;ReadPosRankSum=0.151;SOR=0.96	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,51:115:99:0|1:95436867_A_AC:1879,0,2531:95436867	18	0	1	0
chr5	98881277	98881277	A	C	splicing	CHD1	NM_001376194:exon21:c.2964+2T>G;NM_001270:exon21:c.2964+2T>G;NM_001364113:exon21:c.2964+2T>G	.	.	.	.	.	.	.	.	.	.	0.9999	0.926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs771067213	1.372e-06	2.067e-05	0	2.761e-06	3.269e-05	0	0	.	.	0	0	0	0	0	0	0	0	3.269e-05	2.547e-05	9.518e-05	0	5.171e-05	5.328e-05	0	0	.	.	0	0	0	0	0	0	0	5.328e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161339	0.70325	D	-0.00602411	0.69943	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.316065	0.89230	29.9	0.97980786696476108	0.37327	0.98909	0.88484	D	AEFBI	.	.	.	0.946481265018365	0.93844	12.31655	0.742202107142468	0.85572	8.621144	0.999998975339752	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.125526	0.03468	0	0.117559	0.03655	0	0.816777	0.48665	5.23	4.05	0.46415	9.325000	0.96006	11.234000	0.90205	-0.093000	0.16093	1.000000	0.71638	1.000000	0.68203	0.087000	0.17632	0.8678:0.0:0.0:0.1322	11.746	0.51087	905	0.23532	.;.	.	.	.	.	.	Uncertain significance	1	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	.	.	.	.	.	.	.	.	0.125	51.19	12	chr5	98881277	.	A	C	51.19	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-0.892;DP=647;ExcessHet=0.119;FS=9.148;InbreedingCoeff=-0.2433;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=1.45;SOR=2.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,3:36:11:.:.:11,0,819:.	6	0	2	11
chr5	102270770	102270770	G	A	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.C656T:p.T219I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0115028280006	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175652348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.32e-05	1.315e-05	1.289e-05	1.352e-05	1.472e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.472e-05	0.0005	0	0.142	0.25457	T	0.256	0.23298	T	0.038	0.21002	B	0.103	0.30945	B	0.114133	0.02666	N	1.718550	1	0.08975	N	1.27	0.32069	L	1.09	0.39223	T	-2.68	0.57275	D	0.157	0.16308	-1.0216	0.23195	T	0.093	0.35336	T	10	0.06457871	0.08585	T	0.011503	0.29187	T	0.013	0.01715	0.505	0.59924	0.104622674875	0.10061	0.2586394306084872	0.25777	0.0495080261756	0.05423	0.311373412609	0.12114	T	0.040704	0.25615	T	-0.240781	0.15248	T	-0.583642	0.14221	T	0.113470774417171	0.13780	T	0.229177	0.03066	T	0.07753631	0.17604	0.073808745	0.16079	0.07753631	0.17604	0.073808745	0.16078	-4.183	0.26505	T	.	.	0.078	0.06663	B	.	.	0.696501	0.10651	7.351	0.97305176174551633	0.33299	0.03945	0.09343	N	AEFBI	0.071942	0.14339	N	-1.05011044505534	0.07585	0.3528671	-1.09197903977378	0.07857	0.3839092	0.0203658458362758	0.13251	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	-1.11	0.09336	-0.445000	0.06918	-0.879000	0.07072	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.1348:0.1105:0.3048:0.4499	2.952	0.05506	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily 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	.	.	.	.	.	.	.	.	0.02941	340.2	63	chr5	102270770	.	G	A	340.2	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.79;DP=1035;ExcessHet=2.0135;FS=96.392;InbreedingCoeff=-0.2208;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.944;SOR=7.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,16:64:99:0|1:102270769_T_C:183,0,1573:102270769	16	0	1	2
chr5	119148942	119148942	A	T	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon18:c.A3115T:p.S1039C,DMXL1:NM_001290322:exon18:c.A2596T:p.S866C,DMXL1:NM_005509:exon18:c.A3115T:p.S1039C,DMXL1:NM_001349239:exon19:c.A3115T:p.S1039C,DMXL1:NM_001349240:exon19:c.A3115T:p.S1039C	.	423	1081	18	0	0	18	0.00825688	.	.	.	3199238	DMXL1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.061	0.0208012841409	0.0015	0.00159744	0.0020	0.0005	0.0009	0	0.0005	0.0022	0.0011	0.0046	0.0019599	303	154602	rs149431940	0.0021	0.0021	0.0019	0.0022	0.0056	0.0020	0.0020	0.0051	0.0050	0.0005	0.0008	0.0078	2.52e-05	0.0003	0.0052	0.0019	0.0023	0.0056	0.0017	0.0017	0.0019	0.0016	0.0052	0.0015	0.0015	0.0036	0.0031	0.0006	0	0.0007	0.0075	0	9.406e-05	0.0136	0.0024	0.0028	0.0052	0.009	0.57480	D	.	.	.	0.895	0.49247	P	0.716	0.54713	P	0.000029	0.55875	D	0.189059	0.579853	0.32365	D	0.695	0.17993	N	1.38	0.34050	T	-1.23	0.31170	N	0.363	0.40465	-0.8849	0.49365	T	0.089	0.34188	T	10	0.0051154494	0.00111	T	0.020801	0.43464	T	0.061	0.17616	.	.	0.151262610727	0.14761	0.45893462374903576	0.45811	0.235143820594	0.26041	0.435257196426	0.29929	T	0.024995	0.21180	T	-0.444269	0.01221	T	-0.409847	0.32243	T	0.0382965835248343	0.03384	T	0.857714	0.54741	D	0.09775555	0.23047	0.098359466	0.23446	0.09775555	0.23047	0.098359466	0.23445	-6.176	0.47728	T	.	.	0.072	0.04238	B	.;.	.;.	4.114259	0.61441	24.3	0.99038541941784364	0.50962	0.91893	0.54491	D	AEFBI	0.271313	0.38719	N	0.333491220154494	0.57874	3.956687	0.389902152134229	0.60942	4.287613	0.828160635944893	0.24645	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.5	4.2	0.48814	2.484000	0.44900	8.081000	0.76481	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.6798:0.0:0.3202:0.0	3.541	0.07368	875	0.30485	.;.	.	.	.	.	.	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	0.003021	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.007576	0.05263	5329.83	36	chr5	119148942	.	A	T	5329.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.399;DP=993;ExcessHet=0.119;FS=0.757;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.26;SOR=0.742	GT:AD:DP:GQ:PL	0/1:96,106:202:99:2973,0,2675	17	0	2	0
chr5	119634637	119634637	A	G	exonic	FAM170A	.	nonsynonymous SNV	FAM170A:NM_001163991:exon2:c.A748G:p.K250E,FAM170A:NM_001367956:exon3:c.A889G:p.K297E,FAM170A:NM_182761:exon3:c.A889G:p.K297E	.	.	.	.	.	.	.	.	.	.	.	2284009	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	0.00351520923649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	9.42e-05	0.0034	0	0	0	1.0	0.00964	T	0.65	0.06812	T	0.0	0.02946	B	0.001	0.04355	B	0.558608	0.05411	N	1.239830	1	0.08975	N	0.385	0.12166	N	1.37	0.34253	T	-0.22	0.10480	N	0.118	0.16028	-1.0205	0.23551	T	0.061	0.25346	T	9	0.044412255	0.03395	T	0.003515	0.07969	T	0.023	0.04649	0.092	0.01108	0.0138822411134	0.00435	0.01008998186712808	0.00970	.	.	0.246334731579	0.03392	T	0.003044	0.02443	T	-0.365166	0.03846	T	-0.762312	0.03030	T	0.0311851204323327	0.02175	T	0.330567	0.06924	T	0.045461673	0.07445	0.04170721	0.04802	0.045461673	0.07445	0.04170721	0.04802	-2.271	0.04479	T	.	.	0.068	0.02702	B	.;.;.	.;.;.	-0.266738	0.02767	0.373	0.15905969846632681	0.00406	0.00180	0.01055	N	AEFDBI	0.020637	0.00835	N	-1.23003652722952	0.04570	0.2065075	-1.28005156504183	0.04700	0.2223331	0.310888204654878	0.19285	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.96	-0.436	0.11663	-0.251000	0.08837	-0.004000	0.13159	-0.214000	0.08267	0.000000	0.06391	0.000000	0.08366	0.044000	0.14658	0.5622:0.0:0.4378:0.0	6.682	0.22316	950	0.11238	.;.;.	.	.	.	.	.	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	1	0	0.000512	0.000000	0.001359	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	1135.33	36	chr5	119634637	.	A	G	1135.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.005;DP=805;ExcessHet=0;FS=1.716;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.163;SOR=0.896	GT:AD:DP:GQ:PL	0/1:45,43:88:99:1149,0,1176	18	0	1	0
chr5	122020682	122020682	A	G	exonic	SRFBP1	.	nonsynonymous SNV	SRFBP1:NM_152546:exon6:c.A947G:p.K316R	.	427	1094	1	0	0	1	0.00045683	.	.	.	3330546	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.0050722624373	8.4e-05	.	9.199e-05	0	8.682e-05	0	0	0.0002	0	0	7.12e-05	11	154602	rs371416189	5.2e-05	5.199e-05	4.901e-05	5.501e-05	0.0003	4.259e-05	3.889e-05	6.092e-05	3.658e-05	0	2.237e-05	0	2.52e-05	0	0.0003	5.127e-05	0.0001	9.279e-05	9.847e-05	9.843e-05	0.0001	5.37e-05	0.0002	6.001e-05	4.875e-05	0.0001	7.894e-05	0	0	0.0001	0	0	0	0	0.0002	0.0005	0	0.135	0.26192	T	0.33	0.18560	T	0.001	0.07471	B	0.002	0.06944	B	0.001140	0.40136	N	0.290858	1	0.08975	N	1.21	0.30464	L	.	.	.	-0.81	0.22294	N	0.083	0.05929	-1.0520	0.13845	T	0.058	0.24279	T	9	0.056292832	0.06286	T	0.005072	0.12846	T	0.019	0.03383	.	.	0.110078149338	0.10416	0.032443386657624786	0.03192	0.00578835925109	0.00504	0.196809589863	0.00370	T	0.080278	0.36325	T	-0.387002	0.02812	T	-0.601995	0.12643	T	0.0249620897678173	0.01268	T	0.407359	0.10471	T	0.037836257	0.04926	0.04783227	0.06976	0.037836257	0.04925	0.04783227	0.06976	-4.953	0.36325	T	.	.	0.073	0.04764	B	.	.	0.348416	0.07216	3.810	0.93223990533780343	0.22902	0.61612	0.31536	D	AEFDGBI	0.090412	0.18320	N	-0.793985775409907	0.13466	0.6635571	-0.770632434786595	0.15217	0.7991507	0.998194597088223	0.36560	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.08	2.61	0.30255	1.559000	0.35928	1.427000	0.26414	0.752000	0.88150	0.157000	0.23755	0.994000	0.32194	0.069000	0.16583	0.6635:0.1619:0.1746:0.0	4.660	0.12023	797	0.45241	.	.	.	.	.	.	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	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05263	3896.83	34	chr5	122020682	.	A	G	3896.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.346;DP=917;ExcessHet=0.119;FS=3.89;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.246;SOR=0.933	GT:AD:DP:GQ:PL	0/1:80,69:149:99:1916,0,2228	17	0	2	0
chr5	128288438	128288438	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6757C:p.D2253H	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.879	0.430626382782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.694607	0.10146	N	0.852832	1	0.81001	D	3.835	0.95663	H	-5.39	0.99055	D	-5.33	0.84601	D	0.946	0.95374	1.101	0.99694	D	0.983	0.99482	D	9	0.98123467	0.98137	D	0.430626	0.93974	D	0.879	0.96428	0.905	0.97985	0.931387637819	0.93068	0.9248113223682665	0.92458	0.944348631935	0.72353	0.844889104366	0.88841	D	0.843142	0.96360	D	0.584583	0.97082	D	0.601936	0.97034	D	0.999141216278076	0.96328	D	0.989326	0.96464	D	0.6636905	0.76096	0.6756067	0.80952	0.6636905	0.76098	0.6756067	0.80952	-14.719	0.95159	D	.	.	0.995	0.95383	P	.;.;.	.;.;.	6.541209	0.95375	34	0.99491875384234207	0.67516	0.99662	0.98450	D	AEFBI	0.955192	0.97285	D	0.930340387445476	0.93165	11.86249	0.848877612808232	0.92950	11.73124	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding 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	.	.	.	.	.	.	.	.	0.2857	1727.26	102	chr5	128288438	.	C	G	1727.26	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-1.028;DP=1798;ExcessHet=4.0268;FS=185.259;InbreedingCoeff=-0.3823;MLEAC=10;MLEAF=0.357;MQ=60;MQRankSum=0;QD=2.11;ReadPosRankSum=1.46;SOR=11.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,25:110:99:.:.:234,0,2892:.	6	0	8	5
chr5	128288443	128288443	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6752C:p.C2251S	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.817	0.114977268281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	.	.	.	0.991	0.64070	D	0.991	0.79672	D	0.171149	0.03111	N	1.846500	0.999998	0.58761	D	3.35	0.91085	M	-2.76	0.90848	D	-7.23	0.94300	D	0.94	0.94668	0.407	0.89195	D	0.906	0.96872	D	10	0.9754184	0.97290	D	0.114977	0.79401	D	0.817	0.94123	0.906	0.98027	0.933244731319	0.93255	0.9847937345538913	0.98472	0.753181062294	0.63881	0.828525781631	0.86336	D	0.925487	0.98698	D	0.484054	0.93833	D	0.457534	0.93755	D	0.9776571393013	0.71947	D	0.957071	0.83814	D	0.7416861	0.80389	0.7407168	0.84674	0.7416861	0.80390	0.7407168	0.84675	-13.457	0.91158	D	0.8639128091276882	0.92661	0.998	0.97755	P	.;.;.	.;.;.	5.034829	0.83769	28.1	0.99492420662632319	0.67516	0.99662	0.98450	D	AEFBI	0.954903	0.97235	D	0.897885656281263	0.91654	10.99508	0.829146643970687	0.91743	11.04352	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	7.674000	0.64943	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	786.67	107	chr5	128288443	.	C	G	786.67	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.456;DP=1582;ExcessHet=0.3672;FS=130.34;InbreedingCoeff=-0.1015;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=2.33;ReadPosRankSum=2.02;SOR=8.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:93,12:115:78:.:.:78,0,3378:.	17	0	1	1
chr5	129461465	129461465	C	A	exonic	ADAMTS19	.	nonsynonymous SNV	ADAMTS19:NM_133638:exon2:c.C455A:p.P152Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.289397826331	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs971813871	4.962e-05	4.927e-05	4.513e-05	5.425e-05	0.0002	3.989e-05	3.635e-05	5.761e-05	3.612e-05	3.814e-05	0.0002	0.0002	0	0	0	5.149e-05	1.84e-05	0	1.973e-05	1.971e-05	1.286e-05	2.693e-05	2.942e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.942e-05	0	0	0.018	0.50676	D	.	.	.	0.005	0.12996	B	0.01	0.14941	B	0.855826	0.07086	N	1.094290	1	0.08975	N	1.1	0.28011	L	-0.04	0.63240	T	-1.06	0.27669	N	.	.	-1.0246	0.22214	T	0.108	0.39295	T	9	0.11099854	0.20767	T	0.289398	0.90510	D	0.051	0.14325	.	.	0.314436011497	0.31061	0.36929192342875183	0.36843	2.58226240517	0.98069	0.808486104012	0.83260	D	0.007236	0.06655	T	-0.152222	0.27964	T	-0.456433	0.26988	T	0.0881401149458989	0.10995	T	0.423058	0.11286	T	0.09813141	0.23142	0.10861399	0.26165	0.09813141	0.23142	0.10861399	0.26165	-5.475	0.41633	T	.	.	0.084	0.09578	B	.;.	.;.	2.534043	0.32768	19.14	0.85316528903930511	0.15817	0.32333	0.24559	N	AEFDBHCI	0.067033	0.13156	N	-1.06542100692859	0.07289	0.3381236	-1.04814091207931	0.08746	0.4315069	0.999999891637578	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.239995	0.05000	1	0.554799	0.18163	0	.	.	2.64	0.677	0.17130	1.210000	0.31975	2.491000	0.32984	0.445000	0.21165	0.502000	0.26971	0.967000	0.29559	0.979000	0.57723	0.3941:0.6059:0.0:0.0	9.120	0.35945	721	0.55360	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	748.33	36	chr5	129461465	.	C	A	748.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.996;DP=653;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=-0.492;SOR=0.627	GT:AD:DP:GQ:PL	0/1:21,29:50:99:762,0,464	18	0	1	0
chr5	134661554	134661554	A	G	exonic	SEC24A	.	nonsynonymous SNV	SEC24A:NM_001252231:exon2:c.A533G:p.Y178C,SEC24A:NM_021982:exon2:c.A533G:p.Y178C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0569797869563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.43708	T	0.195	0.28032	T	0.102	0.25827	B	0.078	0.28627	B	0.758996	0.09639	N	0.891913	0.997006	0.22826	N	0.895	0.22405	L	-4.25	0.97054	D	-0.28	0.12661	N	0.288	0.32591	0.121	0.84561	D	0.761	0.91865	D	10	0.1919544	0.34903	T	0.05698	0.66802	D	0.239	0.54358	0.175	0.08135	0.898003812781	0.89699	0.3301089787337495	0.32923	0.17378015562	0.19568	0.344787716866	0.17151	T	0.014884	0.12588	T	0.0559007	0.59095	T	-0.157479	0.58578	T	0.215899216169104	0.21257	T	0.855114	0.54939	D	0.055575803	0.10820	0.047134727	0.06722	0.055575803	0.10820	0.047134727	0.06722	-7.031	0.54260	T	.	.	0.084	0.15206	B	.;.	.;.	2.807997	0.36954	20.4	0.96583914501814194	0.30344	0.61876	0.31613	D	AEFBI	0.098639	0.19872	N	-0.181788419235287	0.33894	1.928165	-0.0301127284919635	0.38361	2.259012	0.999088010153687	0.38397	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.55	3.15	0.35301	2.211000	0.42465	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.3462:0.4452:0.2087:0.0	4.13	0.09613	840	0.37365	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	177.93	38	chr5	134661554	.	A	G	177.93	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.806;DP=1220;ExcessHet=0.119;FS=109.059;InbreedingCoeff=-0.0589;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=1.06;SOR=8.379	GT:AD:DP:GQ:PL	0/1:126,19:145:99:140,0,3536	17	0	2	0
chr5	138386226	138386226	G	A	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon7:c.G985A:p.A329T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0050907779686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.448	0.13030	T	0.001	0.07471	B	0.001	0.04355	B	0.000815	0.41658	N	0.203233	1	0.81001	D	0.55	0.14455	N	0.11	0.61208	T	-0.27	0.11366	N	0.175	0.18784	-1.0628	0.11069	T	0.090	0.34463	T	10	0.06675702	0.09204	T	0.005091	0.12908	T	0.091	0.26358	0.132	0.03662	0.147330786459	0.14319	0.1916634261127402	0.19084	0.550695722903	0.51928	0.434996545315	0.29892	T	0.010045	0.09105	T	-0.219422	0.18073	T	-0.552961	0.17042	T	0.100532970980296	0.12416	T	0.712529	0.32403	T	0.026300933	0.01671	0.050727747	0.08021	0.026300933	0.01671	0.050727747	0.08020	-3.985	0.23578	T	.	.	0.065	0.01884	B	.	.	2.111299	0.26865	17.27	0.98544586678743984	0.42770	0.79100	0.39133	D	AEFBI	0.192396	0.31955	N	-0.380122664428079	0.26178	1.426746	-0.197696092152855	0.31621	1.79126	0.999871070192208	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.35	3.57	0.40014	0.730000	0.25711	2.928000	0.35601	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.1636:0.1348:0.5444:0.1572	2.629	0.04638	367	0.84523	.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.1053	747.99	33	chr5	138386226	.	G	A	747.99	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-4.753;DP=1527;ExcessHet=1.3;FS=220.18;InbreedingCoeff=-0.1468;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=1.38;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:103,40:146:99:.:.:253,0,2614:.	15	0	4	0
chr5	139848493	139848493	T	0	exonic	NRG2	.	.	.	.	438	849	203	25	7	260	0.129677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	153.63	7	chr5	139848493	.	T	*	153.63	.	AC=3;AF=0.1;AN=30;BaseQRankSum=1.99;DP=329;ExcessHet=1.4774;FS=1.101;InbreedingCoeff=-0.1876;MLEAC=4;MLEAF=0.133;MQ=60;MQRankSum=0;QD=2.65;ReadPosRankSum=-0.705;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,10:15:99:.:.:301,0,171:.	12	0	3	4
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N,NRG2:NM_004883:exon2:c.G731A:p.S244N,NRG2:NM_013981:exon2:c.G731A:p.S244N,NRG2:NM_013982:exon2:c.G731A:p.S244N,NRG2:NM_013983:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2059	985.91	191	chr5	139887481	.	C	T	985.91	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-4.303;DP=2082;ExcessHet=2.9153;FS=241.35;InbreedingCoeff=-0.3001;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=0.942;SOR=11.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,27:131:9:0|1:139887481_C_T:9,0,3170:139887481	10	0	7	2
chr5	139887483	139887483	C	G	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G729C:p.K243N,NRG2:NM_004883:exon2:c.G729C:p.K243N,NRG2:NM_013981:exon2:c.G729C:p.K243N,NRG2:NM_013982:exon2:c.G729C:p.K243N,NRG2:NM_013983:exon2:c.G729C:p.K243N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2059	1237.29	191	chr5	139887483	.	C	G	1237.29	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-4.683;DP=1976;ExcessHet=5.3738;FS=248.454;InbreedingCoeff=-0.3809;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.756;SOR=11.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,27:131:9:0|1:139887481_C_T:9,0,3170:139887481	10	0	7	2
chr5	141180333	141180333	C	A	exonic	PCDHB8	.	nonsynonymous SNV	PCDHB8:NM_019120:exon1:c.C2299A:p.L767I	.	433	126	416	533	14	1496	0.854671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0157502002775	.	0.00139776	0.0021	0.0002	0.0035	0	0	0.0028	0.0022	0.0012	0.0019793	306	154602	rs2740583	0.0024	0.0024	0.0023	0.0024	0.0044	0.0023	0.0023	0.0031	0.0029	0.0002	0.0036	0.0037	0	0.0002	0.0044	0.0026	0.0024	0.0015	0.0017	0.0017	0.0016	0.0017	0.0042	0.0015	0.0014	0.0034	0.0031	0.0003	0	0.0042	0.0014	0.0002	9.484e-05	0.0136	0.0022	0.0019	0.0021	.	.	.	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	0.20793	.	.	.	.	.	.	.	0.08658171	0.14730	T	.	.	.	.	.	.	.	.	.	0.04216645308251248	0.04161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01960	B	.	.	1.975943	0.25099	16.64	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.368000	0.43875	.	.	-0.108000	0.15293	0.359000	0.25834	0.992000	0.31684	0.001000	0.02609	.	.	.	666	0.61362	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	42270.7	106	chr5	141180333	.	C	A	42270.7	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.159;DP=2074;ExcessHet=2.8258;FS=0.614;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=21.48;ReadPosRankSum=-0.017;SOR=0.752	GT:AD:DP:GQ:PL	0/1:71,64:135:99:1639,0,1882	17	0	2	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4706	14014.1	269	chr5	141303079	.	C	G	14014.1	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-5.32;DP=3969;ExcessHet=25.4433;FS=253.579;InbreedingCoeff=-0.8095;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=4.49;ReadPosRankSum=1.54;SOR=13.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:156,40:209:99:.:.:234,0,5897:.	1	0	16	2
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4737	19266.3	284	chr5	141303081	.	A	G	19266.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.62;DP=4066;ExcessHet=38.2876;FS=254.572;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=1.37;SOR=14.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:147,80:227:99:.:.:1606,0,3366:.	1	0	18	0
chr5	141389722	141389722	G	C	exonic	PCDHGB4	.	nonsynonymous SNV	PCDHGB4:NM_003736:exon1:c.G1838C:p.G613A,PCDHGB4:NM_032098:exon1:c.G1838C:p.G613A	.	196	1282	41	3	0	47	0.0180008	.	.	.	2825345	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.280	.	0.0072	0.00399361	0.0081	0.0020	0.0078	0	0.0103	0.0093	0.0101	0.0101	0.0078395	1212	154602	rs141134077	0.0097	0.0097	0.0095	0.0099	0.0282	0.0096	0.0095	0.0246	0.0232	0.0019	0.0078	0.0094	2.519e-05	0.0099	0.0282	0.0103	0.0090	0.0099	0.0079	0.0079	0.0080	0.0077	0.0120	0.0075	0.0073	0.0106	0.0101	0.0020	0	0.0120	0.0069	0	0.0122	0.0204	0.0105	0.0061	0.0079	0.134	0.26300	T	0.129	0.34837	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	2.075	0.57047	M	0.6	0.53731	T	-4.97	0.82063	D	0.076	0.17828	-0.7849	0.56025	T	0.234	0.60087	T	9	0.009389728	0.00212	T	.	.	.	0.280	0.59740	.	.	0.698464051262	0.69585	0.35404861389993686	0.35318	.	.	.	.	.	0.181704	0.53346	T	-0.349946	0.04730	T	-0.261824	0.48642	T	0.0558360295277478	0.06496	T	0.914509	0.69499	D	0.36165914	0.57963	0.4088886	0.65193	0.36165914	0.57963	0.4088886	0.65193	-7.983	0.62439	D	.	.	0.157	0.34645	B	.;.	.;.	3.812229	0.54996	23.6	0.99596222077700636	0.73925	0.13787	0.18052	N	AEFBI	0.164576	0.29098	N	0.351618076349019	0.58824	4.057204	0.281579482210236	0.54466	3.611339	0.967080787852265	0.28951	0.625279	0.40028	0	0.588066	0.40923	0	0.667671	0.60360	0	0.59522	0.37078	0	.	.	5.05	5.05	0.67566	0.287000	0.18678	.	.	0.504000	0.22967	0.001000	0.13787	1.000000	0.68203	0.991000	0.66497	0.0:0.2654:0.7346:0.0	13.932	0.63510	759	0.50631	.;Cadherin-like|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	0	0	1	0	0.029738	0.015152	0.019022	0.052632	0.150000	0.034483	0.018405	0.018939	0.02632	3388.33	34	chr5	141389722	.	G	C	3388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.252;DP=947;ExcessHet=0;FS=6.069;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.97;MQRankSum=-0.942;QD=13.29;ReadPosRankSum=-0.06;SOR=0.437	GT:AD:DP:GQ:PL	0/1:121,134:255:99:3402,0,3386	18	0	1	0
chr5	141490981	141490981	C	T	exonic	PCDHGC5	.	nonsynonymous SNV	PCDHGC5:NM_018929:exon1:c.C1741T:p.R581C,PCDHGC5:NM_032407:exon1:c.C1741T:p.R581C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.032263979169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.3e-05	1.368e-05	1.906e-05	6.876e-06	1.619e-05	8.31e-06	6.7e-06	1.012e-05	8.35e-06	0	0	0	0	0	0	1.619e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.002	0.79402	D	0.997	0.90584	D	0.917	0.65306	D	0.000033	0.55875	D	0.000000	1	0.81001	D	3.39	0.91563	M	0.7	0.51474	T	-5.55	0.86222	D	0.356	0.39760	-0.2633	0.75997	T	0.337	0.70379	T	10	0.48610663	0.60717	T	0.032264	0.54139	D	0.272	0.58758	0.635	0.77142	0.78846018172	0.78650	0.43016415100622335	0.42933	1.20945217804	0.80786	0.630709171295	0.57246	T	0.322179	0.69321	T	0.0828118	0.62368	D	-0.118823	0.61899	T	0.977789759635925	0.72009	D	0.859714	0.71494	D	0.3264657	0.55180	0.4777061	0.69742	0.3264657	0.55180	0.4777061	0.69743	-8.837	0.66642	D	.	.	0.231	0.46619	B	.;.	.;.	5.146238	0.86174	28.8	0.999202350520911	0.98721	0.47184	0.27926	N	AEFGBCI	0.462715	0.51193	N	0.550199815949778	0.70095	5.451332	0.4514214383909	0.64806	4.744711	0.999999984648982	0.74766	0.59774	0.34471	0	0.550933	0.16991	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	5.45	5.45	0.79688	0.626000	0.24185	.	.	0.599000	0.40250	0.013000	0.18845	1.000000	0.68203	1.000000	0.97212	0.1516:0.8484:0.0:0.0	13.978	0.63795	727	0.54702	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	.	.	.	.	.	.	.	.	0.05263	3723.83	33	chr5	141490981	.	C	T	3723.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.63;DP=1126;ExcessHet=0.119;FS=0.447;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=-0.243;SOR=0.727	GT:AD:DP:GQ:PL	0/1:65,55:120:99:1564,0,1617	17	0	2	0
chr5	142315084	142315084	C	T	exonic	SPRY4	.	nonsynonymous SNV	SPRY4:NM_001127496:exon2:c.G25A:p.A9T,SPRY4:NM_001293290:exon2:c.G25A:p.A9T,SPRY4:NM_001293289:exon3:c.G25A:p.A9T,SPRY4:NM_030964:exon3:c.G94A:p.A32T	Hypogonadotropic hypogonadism 17 with or without anosmia, Autosomal dominant	421	1088	11	2	0	15	0.00684619	.	.	.	734890	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.105	0.0182715778717	0.0004	0.00159744	0.0015	0.0003	8.859e-05	0	0	0.0004	0.0048	0.0083	0.0012096	187	154602	rs77566564	0.0007	0.0007	0.0004	0.0009	0.0072	0.0006	0.0006	0.0067	0.0066	0.0001	0.0001	0	0	0	0.0042	0.0003	0.0007	0.0072	0.0004	0.0004	0.0004	0.0005	0.0053	0.0004	0.0003	0.0037	0.0031	0.0001	0	0.0003	0	0.0002	9.595e-05	0.0102	0.0004	0.0010	0.0053	0.205	0.41364	T	0.464	0.12456	T	0.012	0.16265	B	0.004	0.10090	B	0.000977	0.40836	D	0.237265	0.999806	0.20292	N	0	0.06538	N	-0.04	0.63240	T	-0.39	0.25118	N	0.017	0.01658	-1.0677	0.09926	T	0.085	0.33043	T	10	0.005420089	0.00119	T	0.018272	0.40277	T	0.105	0.29889	.	.	0.449860987313	0.44609	0.23363481249207993	0.23278	0.333227569698	0.35360	0.317415773869	0.13029	T	0.007488	0.37643	T	-0.487173	0.00673	T	-0.467158	0.25823	T	0.00975373414029486	0.00128	T	0.522448	0.17034	T	0.052368324	0.09758	0.043977812	0.05596	0.05321057	0.10034	0.04214595	0.04952	-3.54	0.16996	T	.	.	0.066	0.02091	B	.;.;.	.;.;.	1.920549	0.24395	16.38	0.75652680651852433	0.11158	0.67658	0.33513	D	AEFDBCI	0.140622	0.26257	N	-0.840794360252147	0.12277	0.5974489	-0.652796878832132	0.18146	0.9680756	0.999963679529259	0.48965	0.722319	0.85440	0	0.54472	0.11627	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.5	1.03	0.19161	1.882000	0.39283	0.275000	0.16702	-1.025000	0.01715	1.000000	0.71638	0.000000	0.08366	0.959000	0.51448	0.0:0.2663:0.3201:0.4135	4.234	0.10070	793	0.45818	.;.;.	.	.	.	.	.	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	1	0	0.006048	0.000000	0.004076	0.011696	0.000000	0.008621	0.006098	0.007576	0.05263	3648.83	35	chr5	142315084	.	C	T	3648.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.53;DP=884;ExcessHet=0.119;FS=5.711;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-0.449;SOR=0.909	GT:AD:DP:GQ:PL	0/1:63,75:138:99:1929,0,1406	17	0	2	0
chr5	142614066	142614066	C	T	exonic	FGF1	.	nonsynonymous SNV	FGF1:NM_000800:exon2:c.G62A:p.G21E,FGF1:NM_001144892:exon2:c.G62A:p.G21E,FGF1:NM_001144935:exon2:c.G62A:p.G21E,FGF1:NM_001257205:exon2:c.G62A:p.G21E,FGF1:NM_001257206:exon2:c.G62A:p.G21E,FGF1:NM_001257208:exon2:c.G62A:p.G21E,FGF1:NM_001257209:exon2:c.G62A:p.G21E,FGF1:NM_001257210:exon2:c.G62A:p.G21E,FGF1:NM_001257211:exon2:c.G62A:p.G21E,FGF1:NM_001257212:exon2:c.G62A:p.G21E,FGF1:NM_001354959:exon2:c.G62A:p.G21E,FGF1:NM_001354962:exon2:c.G62A:p.G21E,FGF1:NM_033136:exon2:c.G62A:p.G21E,FGF1:NM_033137:exon2:c.G62A:p.G21E,FGF1:NM_001144934:exon3:c.G62A:p.G21E,FGF1:NM_001257207:exon3:c.G62A:p.G21E,FGF1:NM_001354952:exon3:c.G62A:p.G21E,FGF1:NM_001354954:exon3:c.G62A:p.G21E,FGF1:NM_001354955:exon3:c.G62A:p.G21E,FGF1:NM_001354956:exon3:c.G62A:p.G21E,FGF1:NM_001354958:exon3:c.G62A:p.G21E,FGF1:NM_001354963:exon3:c.G62A:p.G21E,FGF1:NM_001354964:exon3:c.G62A:p.G21E,FGF1:NM_001354951:exon4:c.G62A:p.G21E,FGF1:NM_001354953:exon4:c.G62A:p.G21E,FGF1:NM_001354957:exon4:c.G62A:p.G21E,FGF1:NM_001354961:exon4:c.G62A:p.G21E	.	423	1057	41	1	0	43	0.0199351	.	.	.	709694	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.037	.	0.0027	0.00219649	0.0044	0.0008	0.0017	0	0.0012	0.0049	0.0033	0.0102	0.0042561	658	154602	rs17223632	0.0040	0.0040	0.0036	0.0043	0.0182	0.0039	0.0039	0.0154	0.0143	0.0006	0.0028	0.0095	2.519e-05	0.0019	0.0182	0.0036	0.0050	0.0110	0.0035	0.0035	0.0034	0.0036	0.0108	0.0032	0.0031	0.0085	0.0076	0.0007	0	0.0070	0.0104	0	0.0014	0.0306	0.0040	0.0028	0.0108	0.066	0.45039	T	0.417	0.14241	T	0.066	0.23586	B	0.195	0.36592	B	0.000161	0.48594	N	0.142158	0.999805	0.49283	D	0.895	0.22405	L	0.91	0.44856	T	-1.25	0.96142	N	0.175	0.31478	-1.0436	0.16236	T	0.076	0.30584	T	10	0.007540971	0.00171	T	.	.	.	0.037	0.09474	.	.	0.486282253068	0.48261	0.7046674965826489	0.70408	0.253986170498	0.27969	0.528090119362	0.42765	T	0.577861	0.86129	D	-0.529468	0.00387	T	-0.523926	0.19898	T	0.00817586214006582	0.00098	T	0.764624	0.39577	T	0.19090758	0.40695	0.12095103	0.29186	0.19090758	0.40695	0.12095103	0.29185	-4.583	0.31957	T	.	.	0.130	0.37274	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.609642	0.20572	14.81	0.95369283689386941	0.26779	0.56805	0.30212	D	AEFDBHCIJ	0.235189	0.35783	N	-0.622317181569709	0.18275	0.9474823	-0.593728052747317	0.19655	1.055565	0.999984498088826	0.51787	0.490419	0.18000	1	0.59043	0.45803	0	0.667716	0.60424	0	0.542086	0.14980	0	.	.	5.61	1.9	0.24770	2.074000	0.41154	1.418000	0.26339	-0.174000	0.10959	0.874000	0.30870	0.550000	0.25463	0.791000	0.37352	0.0:0.6238:0.1166:0.2596	6.815	0.23010	775	0.48401	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1	0	0.015106	0.005051	0.016304	0.023392	0.000000	0.008621	0.009146	0.015152	0.02632	1016.33	33	chr5	142614066	.	C	T	1016.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.567;DP=738;ExcessHet=0;FS=0.785;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-0.299;SOR=0.821	GT:AD:DP:GQ:PL	0/1:51,41:92:99:1030,0,1337	18	0	1	0
chr5	151030643	151030643	T	C	exonic	TNIP1	.	stoploss	TNIP1:NM_001364486:exon17:c.A1748G:p.X583W,TNIP1:NM_001252392:exon18:c.A1907G:p.X636W,TNIP1:NM_001252393:exon18:c.A1907G:p.X636W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.26e-05	0	0	0	0	0	0	8.147e-05	6.5e-06	1	154602	rs755178311	1.37e-06	1.368e-06	0	2.755e-06	2.33e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.33e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.25750	N	.	.	.	.	.	.	.	.	.	0.092	0.08646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.43722	0.01343	T	-0.765182	0.02929	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	0.730934	0.11002	7.661	0.73832945076873802	0.10472	0.17490	0.19860	N	AEFDBCIJ	.	.	.	-0.514185192026367	0.21620	1.148755	-0.623761908656701	0.18883	1.010739	0.981168104466304	0.30226	0.295142	0.05270	0	0.271743	0.05004	0	0.292756	0.05521	0	0.322829	0.05601	0	0.203978	0.30641	5.62	3.09	0.34677	0.059000	0.14199	-0.114000	0.11796	-0.169000	0.11342	0.015000	0.19116	0.028000	0.21151	0.006000	0.07323	0.1748:0.0882:0.0:0.7369	4.962	0.13421	824	0.40336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	885.83	34	chr5	151030643	.	T	C	885.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.526;DP=696;ExcessHet=0.119;FS=0.851;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=2.38;SOR=0.804	GT:AD:DP:GQ:PL	0/1:22,18:40:99:519,0,623	17	0	2	0
chr5	151507207	151507207	G	C	exonic	FAT2	.	nonsynonymous SNV	FAT2:NM_001447:exon23:c.C12464G:p.S4155C	.	427	1073	21	1	0	23	0.010604	.	.	.	721325	FAT2-related_disorder|Spinocerebellar_ataxia_45|not_specified|not_provided	.|MONDO:MONDO:0033480,MedGen:C4540400,OMIM:617769,Orphanet:589527|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.275	0.0583599827964	0.0003	.	0.0010	0	0.0005	0	0	0.0009	0	0.0035	0.0007956	123	154602	rs145466001	0.0005	0.0005	0.0004	0.0006	0.0036	0.0004	0.0004	0.0024	0.0022	2.989e-05	0.0006	0.0057	0	1.877e-05	0.0036	0.0002	0.0008	0.0026	0.0004	0.0004	0.0004	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	2.405e-05	0	0.0001	0.0058	0	0	0.0068	0.0003	0.0024	0.0014	0.407	0.10245	T	0.035	0.52389	D	0.979	0.59044	D	0.635	0.51908	P	0.006493	0.31997	N	0.220530	0.999862	0.50061	D	1.365	0.34158	L	-1.03	0.76430	T	-1.49	0.36385	N	0.485	0.51940	-0.2370	0.76704	T	0.453	0.78656	T	10	0.009769082	0.00220	T	0.05836	0.67292	D	0.334	0.65620	.	.	0.885439632602	0.88431	0.3802229436836575	0.37937	0.502997777248	0.48648	0.476963639259	0.35639	T	0.094933	0.39518	T	-0.302035	0.08469	T	-0.210307	0.53666	T	0.108110176004173	0.13227	T	0.756024	0.37907	T	0.14777388	0.33767	0.086507246	0.20045	0.14777388	0.33766	0.086507246	0.20045	-5.171	0.38646	T	.	.	0.097	0.15966	B	.	.	3.465181	0.48318	22.6	0.87594490723490837	0.17340	0.96518	0.69540	D	AEFDBCI	0.627449	0.60990	D	0.252113336460178	0.53742	3.541934	0.16496362234461	0.47940	3.016867	0.999999996729769	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.75	4.75	0.59954	7.094000	0.76602	6.571000	0.55968	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.0:0.0:1.0:0.0	16.133	0.81269	892	0.26670	.	.	.	.	.	.	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	0.003021	0.000000	0.008152	0.000000	0.000000	0.000000	0.000000	0.003788	0.07895	3840.79	101	chr5	151507207	.	G	C	3840.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.408;DP=1568;ExcessHet=0.3672;FS=0.446;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=1.67;SOR=0.639	GT:AD:DP:GQ:PL	0/1:46,54:100:99:1525,0,1215	16	0	3	0
chr5	154386374	154386374	G	A	exonic	GALNT10	.	nonsynonymous SNV	GALNT10:NM_198321:exon7:c.G1000A:p.G334R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.768	0.706363876528	7.7e-05	0.000199681	0.0001	0.0005	0.0007	0.0001	0	0	0	0	9.7e-05	15	154602	rs374511506	1.368e-05	1.368e-05	1.77e-05	9.626e-06	0.0002	8.94e-06	7.26e-06	0.0001	7.817e-05	8.961e-05	0.0002	0	0	0	0	5.396e-06	3.312e-05	0	5.911e-05	5.906e-05	5.141e-05	6.716e-05	0.0002	3.076e-05	2.209e-05	0.0001	8.433e-05	0.0002	0	0	0	0	0	0	0	0	0	0.001	0.91255	D	0.017	0.72224	D	1.0	0.90584	D	0.997	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.18	0.88827	M	-0.36	0.99727	T	-7.05	0.94145	D	0.707	0.90025	1.027	0.97666	D	0.990	0.99712	D	10	0.8300146	0.82167	D	0.706364	0.97605	D	0.768	0.92170	0.652	0.78963	0.965351690687	0.96498	0.8868677845459964	0.88655	1.36254029236	0.84369	0.887280344963	0.94918	D	0.650564	0.89391	D	0.314215	0.84055	D	0.529727	0.95230	D	0.885003387928009	0.53529	D	0.915408	0.89778	D	0.9462755	0.95887	0.8507629	0.91555	0.9462755	0.95887	0.8507629	0.91556	-10.444	0.94911	D	.	.	0.924	0.86294	P	.;.;.	.;.;.	7.107532	0.96150	35	0.99936914285014777	0.99661	0.96995	0.72085	D	AEFDGBI	0.700986	0.65783	D	0.853315841873933	0.89295	9.913917	0.803102095461449	0.90009	10.21619	0.999999999985823	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	6.460000	0.73433	11.640000	0.93781	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.501	0.95085	642	0.63909	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	142.33	33	chr5	154386374	.	G	A	142.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.693;DP=701;ExcessHet=0;FS=71.836;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.69;ReadPosRankSum=-1.059;SOR=6.183	GT:AD:DP:GQ:PL	0/1:63,21:84:99:156,0,1296	18	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	2926.77	122	chr5	154834880	.	G	C	2926.77	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-3.509;DP=2450;ExcessHet=17.0548;FS=265.035;InbreedingCoeff=-0.631;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.04;SOR=12.969	GT:AD:DP:GQ:PL	0/1:73,44:127:99:382,0,1285	4	0	14	1
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	128065.0	769	chr5	157052557	.	C	*	128065.0	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0.778;DP=10426;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.0434;MLEAC=21;MLEAF=0.583;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.521;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:266,194:460:99:.:.:7303,0,10495:.	5	7	6	1
chr5	168430220	168430220	A	G	exonic	WWC1	.	nonsynonymous SNV	WWC1:NM_001161661:exon14:c.A2084G:p.K695R,WWC1:NM_001161662:exon14:c.A2084G:p.K695R,WWC1:NM_015238:exon14:c.A2084G:p.K695R	.	419	1096	6	1	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0163418596336	0.0011	0.000798722	0.0015	0	0.0014	0	0.0003	0.0021	0.0025	0.0012	0.0012613	195	154602	rs61740510	0.0015	0.0015	0.0015	0.0015	0.0023	0.0015	0.0014	0.0017	0.0016	5.975e-05	0.0008	0.0016	0	0.0003	0.0023	0.0017	0.0013	0.0011	0.0010	0.0010	0.0010	0.0010	0.0017	0.0008	0.0008	0.0014	0.0013	0.0002	0	0.0005	0.0023	0	0	0	0.0017	0.0019	0.0015	0.035	0.46910	D	0.038	0.51421	D	0.96	0.64070	D	0.519	0.73362	P	0.000005	0.62929	N	0.104682	0.999994	0.58761	D	2.885	0.83555	M	1.1	0.39050	T	-1.69	0.46673	N	0.244	0.27554	-0.8772	0.49981	T	0.158	0.49178	T	10	0.015007794	0.00315	T	0.016342	0.37549	T	0.166	0.42578	.	.	0.542543016418	0.53907	0.28136465332949323	0.28049	0.241955391217	0.26711	0.446965426207	0.31530	T	0.096653	0.39868	T	-0.426478	0.01557	T	-0.392646	0.34241	T	0.0793158652097816	0.09898	T	0.771723	0.40231	T	0.2853584	0.51557	0.2527979	0.50915	0.2853584	0.51557	0.2527979	0.50914	-5.906	0.45486	T	.	.	0.080	0.11461	B	.;.;.	.;.;.	4.102456	0.61177	24.3	0.99875310549484575	0.95244	0.97318	0.73996	D	AEFDBI	0.607897	0.59769	D	0.396468839924531	0.61230	4.321345	0.355705417135825	0.58852	4.058503	0.999923850039824	0.46280	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.27	2.9	0.32809	4.974000	0.63486	6.952000	0.57027	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8542:0.0:0.1458:0.0	9.257	0.36751	955	0.09969	WWC, C2 domain;.;WWC, C2 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	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1458.33	38	chr5	168430220	.	A	G	1458.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.833;DP=720;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.7;ReadPosRankSum=-0.37;SOR=0.806	GT:AD:DP:GQ:PL	0/1:25,53:78:99:1472,0,688	18	0	1	0
chr5	180318888	180318888	C	T	exonic	GFPT2	.	nonsynonymous SNV	GFPT2:NM_005110:exon10:c.G863A:p.G288E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.840	0.167131555664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.018	0.83351	D	0.998	0.73220	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.34	0.90961	M	-1.12	0.77593	T	-7.46	0.95246	D	0.872	0.86941	0.604	0.91950	D	0.709	0.90010	D	9	0.83765197	0.82920	D	0.167132	0.84557	D	0.840	0.94989	0.45	0.51121	0.961455814952	0.96104	0.8357538083864663	0.83535	0.776520448853	0.65064	0.794817447662	0.81175	T	0.708811	0.91678	D	0.368276	0.87902	D	0.291227	0.87747	D	0.996980845928192	0.90511	D	0.989101	0.96368	D	0.8535245	0.87597	0.8492102	0.91451	0.8535245	0.87598	0.8492102	0.91452	-10.84	0.78773	D	.	.	0.986	0.92504	P	.;.	.;.	5.022038	0.83472	28.1	0.99823225120250259	0.90590	0.98757	0.86462	D	AEFBI	0.955271	0.97299	D	0.8565013757474	0.89477	9.987167	0.789975972188339	0.89089	9.833379	0.999999999991644	0.74766	0.67177	0.52595	0	0.627178	0.54094	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	5.21	5.21	0.72005	7.798000	0.84489	7.703000	0.66393	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.723000	0.34869	0.0:1.0:0.0:0.0	18.750	0.91774	970	0.06235	Glutamine amidotransferase type 2 domain;Glutamine amidotransferase type 2 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	.	.	.	.	.	.	.	.	0.02632	1374.33	34	chr5	180318888	.	C	T	1374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.63;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-1.058;SOR=0.683	GT:AD:DP:GQ:PL	0/1:69,52:121:99:1388,0,1777	18	0	1	0
chr6	4037422	4037422	A	G	exonic	PRPF4B	.	nonsynonymous SNV	PRPF4B:NM_003913:exon3:c.A1264G:p.S422G	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0069713136517	0.0020	0.00239617	0.0006	0.0057	0.0006	0	0	6.014e-05	0	0	0.0006015	93	154602	rs61733048	0.0003	0.0003	0.0003	0.0003	0.0073	0.0003	0.0002	0.0065	0.0063	0.0073	0.0006	0	0	0	0.0023	5.847e-05	0.0008	4.642e-05	0.0019	0.0019	0.0019	0.0019	0.0066	0.0017	0.0016	0.0060	0.0057	0.0066	0	0.0004	0	0	0	0	7.35e-05	0.0005	0.0002	0.775	0.03335	T	0.439	0.13365	T	0.075	0.24198	B	0.037	0.23121	B	0.006891	0.31732	N	0.302300	0.993948	0.23618	N	0.345	0.11182	N	-0.29	0.67712	T	-0.34	0.12661	N	0.273	0.30914	-1.0528	0.13628	T	0.053	0.22307	T	10	0.0077193677	0.00175	T	0.006971	0.18458	T	0.035	0.08770	.	.	0.429154209284	0.42533	0.09609080818428002	0.09541	0.196112893007	0.21964	0.632108926773	0.57445	T	0.042845	0.26312	T	-0.502225	0.00556	T	-0.49102	0.23284	T	0.00278617213428532	0.00029	T	0.680832	0.28956	T	0.023531973	0.01101	0.025981518	0.00665	0.023531973	0.01101	0.025981518	0.00665	-4.352	0.28900	T	.	.	0.065	0.02012	B	.	.	1.572951	0.20139	14.61	0.9777549562762512	0.35900	0.85103	0.44209	D	AEFBI	0.180904	0.30822	N	-0.37801164143053	0.26254	1.431451	-0.200566870363906	0.31516	1.784364	0.999940616104235	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.06	3.9	0.44240	1.486000	0.35138	3.004000	0.35933	0.750000	0.87069	0.952000	0.33172	0.970000	0.29701	1.000000	0.97212	0.606:0.0:0.1828:0.2112	3.546	0.07384	490	0.76723	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1203.33	34	chr6	4037422	.	A	G	1203.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.078;DP=790;ExcessHet=0;FS=0.761;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=1.97;SOR=0.593	GT:AD:DP:GQ:PL	0/1:52,54:106:99:1217,0,1347	18	0	1	0
chr6	4069381	4069381	G	A	exonic	FAM217A	.	nonsynonymous SNV	FAM217A:NM_173563:exon7:c.C842T:p.T281I	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	.	0.0022	0.00499201	0.0009	0.0086	0.0003	0	0	0.0002	0.0022	0	0.0009444	146	154602	rs142918785	0.0004	0.0004	0.0004	0.0004	0.0105	0.0004	0.0004	0.0096	0.0093	0.0105	0.0005	3.827e-05	0	0	0.0036	8.903e-05	0.0012	4.637e-05	0.0025	0.0025	0.0029	0.0020	0.0082	0.0023	0.0022	0.0075	0.0072	0.0082	0	0.0009	0	0	0	0.0102	0.0002	0.0033	0	0.004	0.65419	D	0.004	0.74150	D	0.202	0.29746	B	0.064	0.27215	B	0.000568	0.43250	D	0.235841	0.999963	0.18878	N	0	0.06538	N	1.96	0.22270	T	-2.5	0.54382	D	0.178	0.19190	-1.0086	0.27354	T	0.010	0.03673	T	10	0.005345732	0.00117	T	.	.	.	0.152	0.39956	.	.	0.101711395817	0.09552	0.13148578197152905	0.13073	0.0421290730492	0.04534	0.322853773832	0.13853	T	0.02034	0.16033	T	-0.488878	0.00659	T	-0.469043	0.25620	T	0.0254730268723136	0.01335	T	0.637636	0.25136	T	0.11077683	0.26181	0.17467298	0.39880	0.11077683	0.26181	0.17467298	0.39880	-3.295	0.13673	T	.	.	0.187	0.40360	B	.;.	.;.	1.693159	0.21574	15.26	0.96026800925595757	0.28491	0.19554	0.20706	N	AEFDHI	0.087252	0.17691	N	-0.878246630375717	0.11361	0.5478677	-0.788896783181168	0.14768	0.7733314	0.999421350458261	0.39630	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.43	3.67	0.41236	0.288000	0.18695	1.643000	0.27803	-0.818000	0.02990	0.598000	0.27730	1.000000	0.68203	0.434000	0.27538	0.0:0.7454:0.1676:0.087	7.535	0.26877	634	0.64659	.;.	.	.	.	.	.	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	0.010574	0.015152	0.019022	0.005848	0.000000	0.017241	0.000000	0.000000	0.02632	1698.33	37	chr6	4069381	.	G	A	1698.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.806;DP=991;ExcessHet=0;FS=4.142;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.056;SOR=1.025	GT:AD:DP:GQ:PL	0/1:69,64:133:99:1712,0,2058	18	0	1	0
chr6	17115049	17115049	G	A	exonic	STMND1	.	nonsynonymous SNV	STMND1:NM_001190766:exon2:c.G169A:p.G57S	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00514281330706	.	0.00119808	0.0002	0.0054	0	0	0	0	0	0	0.0001423	22	154602	rs61731426	0.0002	0.0002	0.0002	0.0002	0.0057	0.0002	0.0002	0.0050	0.0047	0.0057	0.0005	0	0	0	0.0016	5.284e-05	0.0003	2.525e-05	0.0016	0.0016	0.0015	0.0017	0.0055	0.0014	0.0014	0.0049	0.0047	0.0055	0	0.0006	0	0	0	0	4.411e-05	0.0014	0	0.398	0.13392	T	0.124	0.35455	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.955	0.23872	L	.	.	.	-2.14	0.48523	N	0.075	0.04913	.	.	.	.	.	.	.	0.004187256	0.00083	T	0.005143	0.13063	T	.	.	.	.	0.15556083564	0.15200	0.15973708671507478	0.15894	.	.	0.224567577243	0.01590	T	0.099018	0.40342	T	-0.520048	0.00440	T	-0.517871	0.20511	T	.	.	.	0.468553	0.13811	T	0.035736814	0.04264	0.052497867	0.08661	0.035736814	0.04264	0.052497867	0.08660	-3.213	0.12640	T	.	.	0.093	0.14979	B	.;.	.;.	0.201683	0.05865	2.304	0.74546494833473953	0.10736	0.02012	0.06052	N	AEFBI	0.042622	0.06635	N	.	.	.	.	.	.	0.997272232825637	0.35446	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.18	1.32	0.20897	-0.146000	0.10233	0.770000	0.21388	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.121000	0.19209	0.2862:0.0:0.5387:0.175	3.542	0.07370	882	0.29131	.;.	.	.	.	.	.	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	0.003115	0.006329	0.010000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	685.33	33	chr6	17115049	.	G	A	685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.7;DP=737;ExcessHet=0;FS=2.811;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.79;ReadPosRankSum=0.379;SOR=0.57	GT:AD:DP:GQ:PL	0/1:70,31:101:99:699,0,1855	18	0	1	0
chr6	24847657	24847657	C	T	exonic	RIPOR2	.	nonsynonymous SNV	RIPOR2:NM_014722:exon13:c.G1112A:p.R371Q	.	428	1020	72	2	0	76	0.0359168	.	.	.	1259819	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.050	.	0.0015	0.00559105	0.0152	0.0005	0.0182	0.0069	0	0.0056	0.0084	0.0335	0.0026584	411	154602	rs150142878	0.0040	0.0038	0.0031	0.0049	0.0293	0.0039	0.0039	0.0283	0.0279	0.0002	0.0017	0.0093	0.0214	0.0005	0.0133	0.0017	0.0037	0.0293	0.0026	0.0026	0.0022	0.0029	0.0224	0.0023	0.0023	0.0190	0.0177	0.0004	0	0.0016	0.0078	0.0085	0.0007	0.0136	0.0022	0.0047	0.0224	0.213	0.19430	T	0.617	0.07518	T	0.196	0.29532	B	0.011	0.15521	B	0.000106	0.50451	N	0.172465	0.597976	0.81001	D	.	.	.	3.01	0.09075	T	-0.37	0.13226	N	0.061	0.04188	-1.0266	0.21560	T	0.011	0.04227	T	10	0.0034193397	0.00060	T	.	.	.	0.050	0.13987	.	.	.	.	0.49750029559525477	0.49671	0.351907675512	0.37028	0.343460798264	0.16956	T	0.007796	0.07183	T	-0.586794	0.00175	T	-0.593353	0.13376	T	0.0158213447003142	0.00370	T	0.580242	0.20999	T	0.043653242	0.06841	0.056604296	0.10144	0.039717603	0.05537	0.056604296	0.10144	-4.878	0.35487	T	.	.	0.086	0.10883	B	.;.;.;.	.;.;.;.	2.191586	0.27940	17.63	0.99829388644124484	0.91112	0.92555	0.55987	D	AEFDGBIJ	0.661606	0.63177	D	-0.140728635558484	0.35630	2.049042	-0.0174606200207295	0.38927	2.300441	0.999999968527192	0.74766	0.487112	0.14033	0	0.379588	0.06130	0	8.03E-4	0.00125	3	0.564101	0.26826	0	.	.	4.92	4.05	0.46415	2.561000	0.45567	1.628000	0.27724	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.9092:0.0:0.0908	11.175	0.47821	793	0.45818	.;.;.;.	.	.	.	.	.	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	1	0	0.010181	0.000000	0.000000	0.004348	0.000000	0.000000	0.016854	0.085106	0.05263	4710.83	33	chr6	24847657	.	C	T	4710.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.92;DP=935;ExcessHet=0.119;FS=4.85;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.656;SOR=0.945	GT:AD:DP:GQ:PL	0/1:79,89:168:99:2507,0,1992	17	0	2	0
chr6	26108071	26108071	G	A	exonic	H1-6	.	nonsynonymous SNV	H1-6:NM_005323:exon1:c.C23T:p.A8V	.	429	1087	6	0	0	6	0.00275229	.	.	.	3273252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.00307608869733	0.0002	.	0.0002	0	0.0003	0.0001	0	0.0002	0	0.0004	0.000194	30	154602	rs375287545	0.0001	0.0001	0.0001	0.0001	0.0033	0.0001	0.0001	0.0022	0.0018	0.0001	0.0004	0	0	1.872e-05	0.0033	8.903e-05	0.0004	0.0003	0.0001	0.0001	0.0001	0.0001	0.0004	8.161e-05	6.718e-05	0.0002	0.0001	4.813e-05	0	0.0004	0	0.0002	0	0	0.0001	0	0.0004	0.101	0.30375	T	0.095	0.39492	T	0.051	0.22415	B	0.01	0.14941	B	0.122586	0.18950	N	0.371629	1	0.08975	N	0	0.06538	N	2.86	0.10482	T	-1.94	0.45042	N	0.136	0.13341	-0.9393	0.42727	T	0.004	0.01125	T	10	0.026951075	0.00851	T	0.003076	0.06636	T	0.092	0.26621	.	.	0.0482279557977	0.04254	0.5516159165946831	0.55087	.	.	0.275006175041	0.06806	T	0.176248	0.52612	T	-0.481025	0.00729	T	-0.618217	0.11324	T	0.0233574884094234	0.01065	T	0.340666	0.07366	T	0.04103882	0.05971	0.038455956	0.03719	0.04103882	0.05971	0.038455956	0.03719	-4.17	0.26316	T	.	.	0.092	0.13690	B	.	.	0.238820	0.06193	2.642	0.98150615864813973	0.38688	0.29246	0.23771	N	AEFBHI	0.137749	0.25883	N	-1.05405934216212	0.07508	0.3490085	-1.07420564124523	0.08211	0.4026964	0.376307866395745	0.19918	0.487112	0.14033	0	0.573888	0.26702	0	0.514364	0.09456	0	0.542086	0.14980	0	.	.	5.35	-1.94	0.07158	2.043000	0.40854	0.142000	0.15184	0.676000	0.76740	0.053000	0.21524	0.000000	0.08366	0.001000	0.02609	0.3403:0.1143:0.4281:0.1174	2.232	0.03753	498	0.76166	.	.	.	.	.	.	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	0.002518	0.005051	0.000000	0.008772	0.000000	0.000000	0.003049	0.000000	0.05263	2673.83	41	chr6	26108071	.	G	A	2673.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.424;DP=886;ExcessHet=0.119;FS=7.323;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.269;SOR=1.271	GT:AD:DP:GQ:PL	0/1:50,51:101:99:1392,0,1437	17	0	2	0
chr6	27309586	27309586	G	A	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.C2585T:p.T862I	.	433	1052	37	0	0	37	0.0172816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0026	0.0165735	0.0172	0.0055	0.0171	0.0689	0	0.004	0.0081	0.0351	0.0036675	567	154602	rs61736085	0.0049	0.0047	0.0039	0.0059	0.0380	0.0048	0.0048	0.0368	0.0364	0.0077	0.0034	0.0067	0.0277	0.0003	0.0181	0.0016	0.0079	0.0380	0.0068	0.0068	0.0059	0.0078	0.0493	0.0065	0.0063	0.0443	0.0424	0.0075	0	0.0049	0.0052	0.0493	9.413e-05	0.0204	0.0022	0.0095	0.0410	0.08	0.33585	T	0.157	0.31730	T	.	.	.	.	.	.	0.750715	0.06482	N	1.192050	1	0.08975	N	2.31	0.66127	M	1.94	0.22678	T	-3.96	0.73579	D	0.021	0.00339	-0.9927	0.31906	T	0.025	0.10821	T	10	0.0025785863	0.00039	T	.	.	.	0.053	0.14996	.	.	.	.	0.09442524287904627	0.09374	.	.	0.286457151175	0.08408	T	0.060114	0.31298	T	-0.617389	0.00114	T	-0.60616	0.12300	T	0.0144042638989973	0.00290	T	0.264874	0.04312	T	0.15821517	0.35606	0.138636	0.33103	0.15821517	0.35606	0.138636	0.33102	-5.234	0.39285	T	.	.	0.182	0.39579	B	.	.	0.693605	0.10624	7.325	0.9853379159390856	0.42632	0.08827	0.14698	N	AEFDBI	0.060227	0.11432	N	-0.512844785655832	0.21664	1.151367	-0.55143704410757	0.20768	1.120442	5.05736796047831E-4	0.07176	0.497415	0.19182	0	0.563428	0.19063	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	3.85	2.96	0.33383	1.653000	0.36940	1.215000	0.24935	0.526000	0.24426	0.035000	0.20724	0.001000	0.17328	0.043000	0.14563	0.1165:0.0:0.8835:0.0	7.758	0.28103	624	0.65661	.	.	.	.	.	rs61736085	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	0.019512	0.005319	0.031250	0.052632	0.083333	0.000000	0.000000	0.034884	0.02632	1894.33	34	chr6	27309586	.	G	A	1894.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.674;DP=1013;ExcessHet=0;FS=0.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=-0.821;SOR=0.695	GT:AD:DP:GQ:PL	0/1:62,68:130:99:1908,0,1834	18	0	1	0
chr6	27838197	27838197	G	T	exonic	H2AC15	.	nonsynonymous SNV	H2AC15:NM_003510:exon1:c.C143A:p.A48E	.	421	1064	37	0	0	37	0.0170901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.610	.	0.0043	0.0197684	0.0132	0.0089	0.0019	0.0841	0.0027	0.0021	0.0055	0.0363	0.0117463	1816	154602	rs149494377	0.0063	0.0063	0.0053	0.0073	0.0739	0.0062	0.0061	0.0717	0.0707	0.0073	0.0025	0.0054	0.0739	0.0022	0.0191	0.0016	0.0079	0.0376	0.0075	0.0075	0.0064	0.0086	0.0637	0.0071	0.0070	0.0580	0.0558	0.0075	0	0.0039	0.0046	0.0637	0.0031	0.0204	0.0024	0.0080	0.0420	.	.	.	0.013	0.63109	D	.	.	.	.	.	.	0.008597	0.30766	U	0.000000	0.998695	0.45291	D	.	.	.	.	.	.	.	.	.	0.365	0.40665	-0.1896	0.77938	T	0.378	0.73513	T	7	0.0067465603	0.00153	T	.	.	.	.	.	.	.	.	.	0.5921012568740528	0.59140	.	.	0.816349625587	0.84469	D	.	.	.	0.252424	0.78829	D	0.651502	0.98081	D	0.0943258828371965	0.11720	T	0.840716	0.51609	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.883783	0.56469	23.7	0.98174350039147362	0.38890	0.96938	0.71764	D	AEFGBHCIJ	0.945340	0.95353	D	0.376379719291116	0.60143	4.200257	0.385374392414292	0.60660	4.256337	1.0	0.98316	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	4.42	4.42	0.52775	9.467000	0.96833	5.411000	0.48538	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.078000	0.17132	0.0:0.0:1.0:0.0	16.887	0.85945	464	0.78488	Histone H2A/H2B/H3	.	.	.	.	.	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	0.023162	0.010101	0.023098	0.038012	0.050000	0.017241	0.006098	0.045455	0.02632	2669.33	36	chr6	27838197	.	G	T	2669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.52;DP=829;ExcessHet=0;FS=2.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=1.18;SOR=0.927	GT:AD:DP:GQ:PL	0/1:93,92:185:99:2683,0,2440	18	0	1	0
chr6	28272748	28272748	C	T	exonic	ZSCAN26	.	nonsynonymous SNV	ZSCAN26:NM_001023560:exon3:c.C499T:p.R167W,ZSCAN26:NM_001111039:exon3:c.C496T:p.R166W,ZSCAN26:NM_001287421:exon3:c.C94T:p.R32W,ZSCAN26:NM_152736:exon3:c.C94T:p.R32W	.	423	1062	35	2	0	39	0.0180305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.00439297	0.0063	0.0001	0.0005	0.0010	0.0002	0.0022	0.0063	0.0377	0.005097	788	154602	rs187327081	0.0037	0.0037	0.0029	0.0046	0.0317	0.0036	0.0036	0.0307	0.0303	0.0002	0.0008	0.0031	0.0003	0.0007	0.0083	0.0021	0.0031	0.0317	0.0021	0.0021	0.0016	0.0026	0.0263	0.0019	0.0018	0.0226	0.0212	0.0003	0	0.0010	0.0023	0.0008	0.0004	0	0.0020	0.0024	0.0263	.	.	.	0.012	0.69154	D	0.733	0.42736	P	0.12	0.32230	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	0.24385	.	.	.	.	.	.	.	0.0033355355	0.00058	T	.	.	.	.	.	.	.	0.176091768786	0.17195	0.1230217323724493	0.12228	.	.	0.178530722857	0.00081	T	0.031673	0.22488	T	-0.357918	0.04248	T	-0.263216	0.48501	T	.	.	.	0.663034	0.31953	T	0.1252649	0.29369	0.122121446	0.29459	0.1252649	0.29369	0.122121446	0.29459	-4.383	0.29326	T	.	.	0.090	0.34449	B	.;.;.;.;.;.	.;.;.;.;.;.	2.663748	0.34712	19.70	0.78118967839709064	0.12163	0.31810	0.24431	N	AEFBI	.	.	.	.	.	.	.	.	.	0.382626342035467	0.19974	0.322412	0.05557	0	0.156173	0.03658	0	0.331037	0.05861	0	0.221052	0.04502	0	0.0967074	0.21669	4.04	3.17	0.35510	3.580000	0.53652	0.371000	0.17677	-0.202000	0.08738	0.018000	0.19461	0.000000	0.08366	0.477000	0.28498	0.0:0.8847:0.0:0.1153	7.767	0.28149	509	0.75304	.;.;.;.;.;.	.	.	.	.	.	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	0.003528	0.000000	0.004076	0.000000	0.000000	0.008621	0.003067	0.007576	0.07895	1438.79	33	chr6	28272748	.	C	T	1438.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.245;DP=739;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=7.61;ReadPosRankSum=-0.14;SOR=0.716	GT:AD:DP:GQ:PL	0/1:45,23:68:99:465,0,1129	16	0	3	0
chr6	28329502	28329502	C	T	exonic	ZSCAN31	.	nonsynonymous SNV	ZSCAN31:NM_001135216:exon2:c.G182A:p.R61Q,ZSCAN31:NM_001243241:exon2:c.G182A:p.R61Q,ZSCAN31:NM_030899:exon2:c.G182A:p.R61Q,ZSCAN31:NM_001135215:exon6:c.G182A:p.R61Q,ZSCAN31:NM_145909:exon6:c.G182A:p.R61Q	.	427	1062	31	2	0	35	0.0162112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	0.0025	0.00419329	0.0057	0.0002	0.0011	0.0012	0.0015	0.0030	0.0066	0.0274	0.0051616	798	154602	rs148156232	0.0043	0.0043	0.0035	0.0050	0.0273	0.0042	0.0042	0.0264	0.0260	0.0004	0.0017	0.0031	0.0004	0.0017	0.0087	0.0030	0.0034	0.0273	0.0028	0.0028	0.0025	0.0031	0.0220	0.0026	0.0025	0.0186	0.0174	0.0006	0	0.0014	0.0023	0.0010	0.0012	0.0034	0.0035	0.0033	0.0220	0.521	0.20988	T	0.194	0.28120	T	0.05	0.22331	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.455	0.36767	L	3.51	0.04959	T	-1.73	0.60188	N	0.141	0.15328	-0.9214	0.45362	T	0.005	0.01725	T	9	0.005136043	0.00111	T	.	.	.	0.066	0.19193	.	.	0.0297737177859	0.01360	0.1074141927531143	0.10670	0.521147091014	0.49897	0.332464814186	0.15307	T	0.001524	0.18905	T	-0.601051	0.00144	T	-0.615873	0.11513	T	0.0278578650942649	0.01668	T	0.372463	0.12997	T	0.03518133	0.04092	0.046788376	0.06597	0.03518133	0.04092	0.046788376	0.06597	-5.33	0.40239	T	.	.	0.142	0.33435	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.916082	0.12909	9.417	0.99814016910868308	0.89797	0.03359	0.08450	N	AEFBHCI	0.098848	0.19910	N	-0.859570190243696	0.11815	0.5722949	-0.925333904878234	0.11497	0.5860615	8.10275566706425E-4	0.07842	0.706298	0.61202	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.62	-1.16	0.09181	-0.221000	0.09208	-2.684000	0.03470	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.716000	0.34643	0.1307:0.2942:0.2577:0.3174	1.156	0.01685	576	0.70006	SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN 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	0.003525	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.007576	0.07895	4780.79	33	chr6	28329502	.	C	T	4780.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.2;DP=999;ExcessHet=0.3672;FS=0.523;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.557;SOR=0.633	GT:AD:DP:GQ:PL	0/1:87,82:169:99:2053,0,2024	16	0	3	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018692	0.005882	0.021739	0.035714	0.083333	0.093750	0.025316	0.000000	0.05263	817.83	33	chr6	30647826	.	A	G	817.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.587;DP=711;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-0.046;SOR=0.753	GT:AD:DP:GQ:PL	0/1:27,20:47:99:510,0,777	17	0	2	0
chr6	30685364	30685364	C	G	exonic	PPP1R18	.	nonsynonymous SNV	PPP1R18:NM_133471:exon1:c.G655C:p.V219L,PPP1R18:NM_001134870:exon2:c.G655C:p.V219L	.	419	1043	54	6	0	66	0.0306691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.	.	.	.	.	.	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	0.014161	0.010101	0.006793	0.015957	0.000000	0.052632	0.027439	0.015152	0.05263	4428.83	37	chr6	30685364	.	C	G	4428.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.22;DP=979;ExcessHet=0.119;FS=1.338;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=0.794;SOR=0.779	GT:AD:DP:GQ:PL	0/1:78,73:151:99:2158,0,2152	17	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	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	0.028867	0.010101	0.035326	0.031915	0.150000	0.068966	0.030488	0.018939	0.05263	4592.83	39	chr6	30703983	.	C	T	4592.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.21;DP=1435;ExcessHet=0.119;FS=1.198;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-0.278;SOR=0.758	GT:AD:DP:GQ:PL	0/1:108,91:199:99:2481,0,2723	17	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	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	0.027778	0.015152	0.035326	0.031915	0.100000	0.051724	0.027439	0.018939	0.05263	5334.83	39	chr6	30704192	.	G	C	5334.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.24;DP=1493;ExcessHet=0.119;FS=1.757;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=1.31;SOR=0.848	GT:AD:DP:GQ:PL	0/1:125,96:221:99:2711,0,3568	17	0	2	0
chr6	31029812	31029812	T	0	exonic	MUC22	.	.	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	13885.3	539	chr6	31029812	.	T	*	13885.3	.	AC=3;AF=0.083;AN=36;BaseQRankSum=0.639;DP=12766;ExcessHet=3.116;FS=0;InbreedingCoeff=-0.1611;MLEAC=3;MLEAF=0.083;MQ=59.61;MQRankSum=-5.406;QD=2.42;ReadPosRankSum=-4.882;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:363,295:658:99:1|0:31029782_GCAGGCTCTGAGACCACCACAGCCTCCACTT_G:9890,0,12644:31029782	15	0	3	1
chr6	31270002	31270002	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G979A:p.V327M,HLA-C:NM_002117:exon5:c.G979A:p.V327M	.	42	1035	385	60	0	505	0.196117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	.	0.141573	0.1174	0.1904	0.1851	0.0488	0.1727	0.1036	0.1330	0.0921	0.102534	15852	154602	rs146911342	1.427e-05	0.0053	1.28e-05	1.579e-05	0.0002	7.66e-06	5.6e-06	8.98e-05	6.321e-05	0.0002	0	0	0	0	0	3.189e-06	0	0.0002	3.138e-05	0.0086	0	6.583e-05	0.0002	5.21e-06	1.95e-06	2.84e-05	1.186e-05	0.0002	0	0	0	0	0	0	0	0	0	0.047	0.40319	D	0.062	0.46406	T	0.023	0.18885	B	0.021	0.22741	B	.	.	.	.	1	0.08975	P	.	.	.	5.37	0.01042	T	-1.48	0.36980	N	0.17	0.18103	-0.9653	0.38151	T	0.002	0.00585	T	8	0.0033346713	0.00058	T	.	.	.	0.084	0.24469	.	.	.	.	0.14371634720666823	0.14294	0.510872535537	0.49183	0.311629235744	0.12153	T	0.095	0.39449	T	-0.600027	0.00146	T	-0.490854	0.23302	T	0.00723602823328332	0.00083	T	0.783822	0.42110	T	.	.	.	.	.	.	.	.	-7.182	0.55352	T	.	.	0.119	0.26388	B	.;.;.	.;.;.	1.630154	0.20816	14.92	0.35910209056378567	0.02280	0.09829	0.15495	N	AEFDBHCI	0.041671	0.06366	N	-0.93655345300227	0.09997	0.4756529	-1.07653106513011	0.08164	0.4002044	0.999999182371296	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	-1.63	0.07900	0.654000	0.24603	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.34:0.3867:0.2733	3.715	0.07965	934	0.15400	.;.;.	.	.	.	.	chr6:31237779	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	0.069628	0.045455	0.089552	0.028090	0.000000	0.046296	0.069930	0.077236	0.2368	18619.8	199	chr6	31270002	.	C	T	18619.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.347;DP=3202;ExcessHet=5.3738;FS=0.521;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=59.06;MQRankSum=-0.866;QD=12.62;ReadPosRankSum=-0.528;SOR=0.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:90,71:161:99:.:.:2696,0,3499:.	10	0	9	0
chr6	31270250	31270250	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon4:c.G855T:p.M285I,HLA-C:NM_002117:exon4:c.G855T:p.M285I	.	42	1114	319	47	0	413	0.15638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	.	0.147564	0.0652	0.1246	0.0907	0.0399	0.0897	0.0532	0.0972	0.0679	0.0598505	9253	154602	rs41540117	0.0001	0.0045	5.08e-05	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0005	0.0002	0.0001	0.0002	3.795e-05	0	7.457e-05	0.0001	0.0011	1.561e-05	0.0024	2.991e-05	0	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.001	0.78490	D	0.017	0.60337	D	0.0	0.07471	B	0.0	0.11217	B	0.002056	0.37364	U	0.000000	1	0.08975	P	.	.	.	4.31	0.02412	T	1.0	0.01408	N	0.102	0.08506	-1.1114	0.02952	T	0.009	0.03448	T	9	0.0022325218	0.00032	T	.	.	.	0.144	0.38394	0.415	0.45380	.	.	0.40286916197994754	0.40202	0.54758036057	0.51724	0.374997138977	0.21546	T	0.020473	0.16112	T	-0.107029	0.35259	T	-0.391516	0.34375	T	0.0737698282644503	0.09171	T	0.523848	0.17660	T	.	.	.	.	.	.	.	.	-3.499	0.16417	T	.	.	0.17	0.38135	B	.;.;.	.;.;.	1.839496	0.23369	15.99	0.41265010250660528	0.02966	0.31228	0.24284	N	AEFBCI	0.105352	0.21052	N	-0.385752648738085	0.25975	1.414194	-0.472263407324781	0.22921	1.247408	0.999999560978343	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	1.360000	0.33729	.	.	0.539000	0.25131	0.893000	0.31264	0.000000	0.08366	0.008000	0.08271	0.0:1.0:0.0:0.0	9.019	0.35351	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs115240290	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	0	0	0	0	0.091557	0.090909	0.091281	0.080645	0.150000	0.025862	0.129630	0.109848	0.2368	7474.82	61	chr6	31270250	.	C	A	7474.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.055;DP=1875;ExcessHet=5.3738;FS=5.544;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=52.1;MQRankSum=-2.734;QD=9.82;ReadPosRankSum=-1.702;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,28:87:99:0|1:31270188_G_C:910,0,2321:31270188	10	0	9	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8684	754.83	150	chr6	31356748	.	CCT	*	754.83	.	AC=33;AF=0.868;AN=38;DP=2092;ExcessHet=0.7564;FS=0.797;InbreedingCoeff=-0.1176;MLEAC=33;MLEAF=0.868;MQ=52.89;QD=0.36;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,112:112:99:1|1:31356739_C_A:4979,337,0:31356739	0	14	5	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6053	15267.6	189	chr6	31356827	.	T	*	15267.6	.	AC=23;AF=0.605;AN=38;BaseQRankSum=-0.098;DP=3185;ExcessHet=5.3738;FS=1.261;InbreedingCoeff=-0.3103;MLEAC=23;MLEAF=0.605;MQ=55.28;MQRankSum=-11.08;QD=4.9;ReadPosRankSum=-1.284;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,173:173:99:1|1:31356818_C_G:7764,521,0:31356818	3	7	9	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	11117.1	61	chr6	31412383	.	TG	*	11117.1	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.569;DP=1342;ExcessHet=0.0541;FS=0;InbreedingCoeff=0.3667;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.358;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,31:54:99:.:.:2291,830,843:.	12	0	7	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	15088.7	61	chr6	31412384	.	G	*	15088.7	.	AC=13;AF=0.342;AN=38;BaseQRankSum=1.42;DP=1354;ExcessHet=5.6906;FS=0;InbreedingCoeff=-0.2828;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=0.242;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,31:54:13:.:.:1461,0,13:.	7	1	11	0
chr6	31996544	31996544	T	C	exonic	C4A;C4B;C4B_2;LOC110384692	.	nonsynonymous SNV	C4B:NM_001002029:exon28:c.T3620C:p.V1207A,C4B_2:NM_001242823:exon28:c.T3620C:p.V1207A,C4A:NM_001252204:exon28:c.T3620C:p.V1207A,LOC110384692:NM_001352000:exon28:c.T3620C:p.V1207A,C4A:NM_007293:exon28:c.T3620C:p.V1207A	.	2	1450	69	1	0	71	0.0238977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	.	0.0083	0.0048	0.0319	0.0050	0.0011	0.0069	0.0033	0.0043	0.0078912	1220	154602	rs28357075	0.0025	0.0039	0.0027	0.0024	0.0191	0.0025	0.0025	0.0180	0.0176	0.0008	0.0191	0.0001	0.0007	0.0009	0.0012	0.0023	0.0014	0.0019	0.0020	0.0044	0.0022	0.0018	0.0061	0.0018	0.0017	0.0051	0.0047	0.0010	0	0.0061	0	0.0008	0.0010	0	0.0022	0.0005	0.0006	0.535	0.07093	T	0.115	0.38305	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.32	0.03561	N	1.54	0.30133	T	1.14	0.01166	N	0.023	0.01135	-0.9411	0.42442	T	0.007	0.02439	T	9	0.0054062605	0.00119	T	.	.	.	0.030	0.07022	.	.	.	.	0.06825879012703862	0.06763	.	.	.	.	.	0.002407	0.01797	T	-0.367044	0.03746	T	-0.76501	0.02935	T	0.000179680987386715	0.00001	T	0.0366963	0.00254	T	0.07769611	0.17650	0.060217388	0.11430	0.07769611	0.17650	0.060217388	0.11430	-0.219	0.00436	T	.	.	0.053	0.00291	B	.;.	.;.	-0.419880	0.02138	0.205	0.28795004747559966	0.01496	0.00543	0.02498	N	AEFDI	0.134378	0.25437	N	-2.06399544725606	0.00153	0.006570574	-1.98774875783834	0.00325	0.01435129	6.12064341257709E-4	0.07460	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.53	0.944	0.18661	-0.039000	0.12076	.	.	-2.930000	0.00155	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5083:0.1961:0.1121:0.1835	1.09	0.01558	923	0.18507	Alpha-macroglobulin complement component;.	.	.	.	.	.	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	0.007659	0.020408	0.002725	0.000000	0.000000	0.000000	0.009202	0.011364	0.02632	231.34	34	chr6	31996544	.	T	C	231.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.78;DP=815;ExcessHet=0;FS=28.197;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=57.59;MQRankSum=-10.56;QD=2.05;ReadPosRankSum=-0.376;SOR=4.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,13:113:99:0|1:31996539_G_C:245,0,4160:31996539	18	0	1	0
chr6	31996553	31996553	T	G	exonic	C4A;C4B;C4B_2;LOC110384692	.	nonsynonymous SNV	C4B:NM_001002029:exon28:c.T3629G:p.L1210R,C4B_2:NM_001242823:exon28:c.T3629G:p.L1210R,C4A:NM_001252204:exon28:c.T3629G:p.L1210R,LOC110384692:NM_001352000:exon28:c.T3629G:p.L1210R,C4A:NM_007293:exon28:c.T3629G:p.L1210R	.	2	1448	71	1	0	73	0.0245874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0058	0.0056	0.0100	0.0069	0.0007	0.0063	0.0040	0.0036	3.23e-05	5	154602	rs28357076	0.0007	0.0025	0.0006	0.0007	0.0021	0.0006	0.0006	0.0017	0.0016	0.0015	0.0009	0.0002	0.0021	0.0007	0.0014	0.0005	0.0007	0.0012	0.0014	0.0042	0.0014	0.0015	0.0024	0.0013	0.0012	0.0020	0.0019	0.0024	0	0.0017	0.0006	0.0023	0.0001	0	0.0010	0.0010	0.0011	0.917	0.02327	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	-1.88	0.00248	N	1.55	0.29866	T	1.17	0.01121	N	0.065	0.06587	-0.9386	0.42837	T	0.004	0.01365	T	8	0.005549848	0.00123	T	.	.	.	0.061	0.17616	.	.	.	.	0.3103683523119763	0.30949	.	.	.	.	.	0.003124	0.02525	T	-0.653859	0.00069	T	-0.682724	0.06818	T	0.000517572450278177	0.00004	T	0.369963	0.08710	T	0.0992703	0.23427	0.069453366	0.14635	0.0992703	0.23426	0.069453366	0.14634	1.17	0.00123	T	.	.	0.045	0.00043	B	.;.	.;.	-1.765232	0.00169	0.002	0.49284754452001944	0.04184	0.00039	0.00329	N	AEFDI	0.125283	0.24172	N	-2.27395090326263	0.00052	0.002238132	-2.26176583485372	0.00081	0.003562557	0.126218125399761	0.16995	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.53	-6.54	0.01692	-0.915000	0.04142	.	.	-3.027000	0.00136	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3386:0.0:0.5066:0.1548	5.704	0.17166	923	0.18507	Alpha-macroglobulin complement component;.	.	.	.	.	.	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	0.058470	0.061224	0.043597	0.026596	0.100000	0.051724	0.100610	0.056818	0.05263	2232.83	34	chr6	31996553	.	T	G	2232.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.624;DP=961;ExcessHet=0.119;FS=8.928;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.41;MQRankSum=-3.984;QD=10.95;ReadPosRankSum=0.495;SOR=1.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,17:119:99:0|1:31996539_G_C:396,0,4232:31996539	17	0	2	0
chr6	32084509	32084509	T	C	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon8:c.A3349G:p.I1117V,TNXB:NM_019105:exon8:c.A3349G:p.I1117V	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00404409277271	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206170488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.08042	T	0.223	0.25670	T	.	.	.	.	.	.	0.011090	0.29665	N	0.157455	1	0.08975	N	.	.	.	0.6	0.53731	T	-0.55	0.16799	N	0.161	0.16864	-0.9398	0.42648	T	0.022	0.09375	T	10	0.10542533	0.19487	T	0.004044	0.09618	T	0.083	0.24192	0.628	0.76366	0.082315109003	0.07666	.	.	.	.	0.376017332077	0.21691	T	0.049554	0.28342	T	-0.363473	0.03937	T	-0.590752	0.13601	T	0.178008481860161	0.19109	T	0.579042	0.20891	T	0.03490001	0.04007	0.03757916	0.03441	0.03490001	0.04007	0.03757916	0.03440	-2.443	0.05403	T	0.1244784940056053	0.12220	0.096	0.33527	B	.;.;.;.	.;.;.;.	0.203901	0.05883	2.323	0.40594767169986945	0.02875	0.01905	0.05835	N	AEFBI	0.067491	0.13270	N	-0.954541453763761	0.09591	0.4545985	-0.991296341291336	0.09980	0.4997959	0.999587630504933	0.40607	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	4.23	0.376	0.15424	0.055000	0.14112	.	.	-0.122000	0.13826	0.025000	0.20085	0.000000	0.08366	0.135000	0.19760	0.0:0.3643:0.0:0.6357	7.727	0.27930	911	0.21964	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	.	.	.	.	.	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	245.84	202	chr6	32084509	.	T	C	245.84	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.312;DP=1216;ExcessHet=0.119;FS=93.345;InbreedingCoeff=-0.056;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=0.943;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,18:118:99:0|1:32084509_T_C:143,0,3852:32084509	17	0	2	0
chr6	32089024	32089024	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon6:c.G2540A:p.R847Q,TNXB:NM_019105:exon6:c.G2540A:p.R847Q	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	1209225	not_provided|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.289	0.0347974571579	0.0002	.	0.0001	0	0	0	0	0.0002	0	0.0003	9.7e-05	15	154602	rs200283439	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	5.977e-05	4.479e-05	0	0	0	0	0.0002	0.0001	0.0002	9.859e-05	9.85e-05	8.994e-05	0.0001	0.0004	6.008e-05	4.881e-05	0.0001	8.878e-05	0	0	0	0	0	0	0	0.0002	0	0.0004	0.107	0.29554	T	0.003	0.76473	D	.	.	.	.	.	.	0.008835	0.30645	N	0.151669	0.998795	0.21902	N	.	.	.	0.43	0.56772	T	-1.96	0.45404	N	0.169	0.17966	-0.9846	0.33927	T	0.111	0.39794	T	10	0.23756093	0.40860	T	0.034797	0.55917	D	0.289	0.60808	.	.	0.292174397486	0.28832	.	.	.	.	0.599798202515	0.52876	T	0.045179	0.27044	T	-0.422756	0.01643	T	-0.575736	0.14927	T	0.620719909667969	0.37235	D	0.89481	0.63428	D	0.22476026	0.45124	0.15259004	0.35893	0.22476026	0.45124	0.15259004	0.35892	-7.164	0.55222	T	0.12595731451978873	0.12627	0.115	0.32251	B	.;.;.;.	.;.;.;.	4.898637	0.80495	27.3	0.99952181649395178	0.99951	0.60459	0.31201	D	AEFDBI	0.113700	0.22423	N	0.274130873158944	0.54840	3.648836	0.296675928653363	0.55345	3.697657	0.999998269273507	0.74766	0.608966	0.35542	0	0.627178	0.54094	0	0.769059	0.98459	0	0.530356	0.10902	0	.	.	5.55	4.68	0.58319	1.669000	0.37108	.	.	0.599000	0.40250	0.965000	0.33920	1.000000	0.68203	0.999000	0.91618	0.0:0.9178:0.0:0.0822	12.574	0.55705	911	0.21964	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1774.33	38	chr6	32089024	.	C	T	1774.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=769;ExcessHet=0;FS=3.492;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=0.567;SOR=1.033	GT:AD:DP:GQ:PL	0/1:52,66:118:99:1788,0,1191	18	0	1	0
chr6	32521967	32521967	G	0	exonic	HLA-DRB5	.	.	.	.	374	1006	44	2	96	144	0.023301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1660.37	9	chr6	32521967	.	G	*	1660.37	.	AC=4;AF=0.125;AN=32;BaseQRankSum=3.04;DP=3811;ExcessHet=0.0018;FS=12.393;InbreedingCoeff=0.4623;MLEAC=5;MLEAF=0.156;MQ=41.52;MQRankSum=-0.926;QD=3.71;ReadPosRankSum=-2.144;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:180,48:285:99:.:.:1745,0,7349:.	13	1	2	3
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	1395.66	11	chr6	32521970	.	G	*	1395.66	.	AC=11;AF=0.344;AN=32;BaseQRankSum=3.94;DP=3885;ExcessHet=12.1646;FS=6.428;InbreedingCoeff=-0.5081;MLEAC=12;MLEAF=0.375;MQ=54.99;MQRankSum=-8.845;QD=0.55;ReadPosRankSum=-4.685;SOR=1.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:230,57:287:99:0|1:32521968_CGG_C:1456,0,9178:32521968	5	0	11	3
chr6	32521972	32521972	G	0	exonic	HLA-DRB5	.	.	.	.	32	45	61	74	14	223	0.698997	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	57856.4	11	chr6	32521972	.	G	*	57856.4	.	AC=2;AF=0.063;AN=32;BaseQRankSum=1.71;DP=3814;ExcessHet=0.0858;FS=5.068;InbreedingCoeff=0.2648;MLEAC=2;MLEAF=0.063;MQ=52.1;MQRankSum=-6.836;QD=22.11;ReadPosRankSum=-1.14;SOR=0.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,47:279:99:.:.:11598,9476,9417:.	14	0	2	3
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	10871.8	10	chr6	32521978	.	GT	*	10871.8	.	AC=11;AF=0.344;AN=32;BaseQRankSum=3.86;DP=3693;ExcessHet=2.6076;FS=6.987;InbreedingCoeff=-0.1963;MLEAC=12;MLEAF=0.375;MQ=51.5;MQRankSum=-8.353;QD=4.27;ReadPosRankSum=-5.004;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,55:273:99:0|1:32521971_CGCG_C:2030,0,6957:32521971	5	0	11	3
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	44319.5	174	chr6	32522156	.	T	*	44319.5	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.806;DP=2448;ExcessHet=0.2833;FS=5.16;InbreedingCoeff=0.1857;MLEAC=7;MLEAF=0.184;MQ=51.87;MQRankSum=-12.7;QD=19.52;ReadPosRankSum=2.12;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,41:83:99:.:.:2687,966,842:.	11	0	8	0
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	10272.1	171	chr6	32522157	.	C	*	10272.1	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.368;DP=2422;ExcessHet=1.0106;FS=0.579;InbreedingCoeff=0.0526;MLEAC=7;MLEAF=0.184;MQ=52.84;MQRankSum=-11.54;QD=6.02;ReadPosRankSum=1.85;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,41:83:99:.:.:3485,1764,1640:.	12	0	7	0
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	10338.1	171	chr6	32522159	.	T	*	10338.1	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.296;DP=2407;ExcessHet=1.0106;FS=1.216;InbreedingCoeff=0.0526;MLEAC=7;MLEAF=0.184;MQ=52.76;MQRankSum=-11.38;QD=6.16;ReadPosRankSum=2.19;SOR=0.579	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,42:85:99:.:.:3614,1809,1679:.	12	0	7	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	36204.6	117	chr6	32530184	.	T	*	36204.6	.	AC=24;AF=0.632;AN=38;BaseQRankSum=-1.048;DP=1952;ExcessHet=0.0506;FS=1.466;InbreedingCoeff=0.3091;MLEAC=24;MLEAF=0.632;MQ=55.76;MQRankSum=-11;QD=20.24;ReadPosRankSum=-1.33;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,49:49:99:.:.:2250,151,0:.	1	6	12	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	40557.0	113	chr6	32530185	.	T	*	40557.0	.	AC=21;AF=0.583;AN=36;DP=1897;ExcessHet=0.0015;FS=0.786;InbreedingCoeff=0.4685;MLEAC=22;MLEAF=0.611;MQ=55.19;QD=24.54;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,44:44:99:.:.:1980,132,0:.	2	5	11	1
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	26525.4	396	chr6	32584171	.	G	*	26525.4	.	AC=8;AF=0.25;AN=32;BaseQRankSum=2.71;DP=4029;ExcessHet=3.0446;FS=0;InbreedingCoeff=-0.0795;MLEAC=9;MLEAF=0.281;MQ=53.9;MQRankSum=3.91;QD=8.9;ReadPosRankSum=-0.971;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,73:146:99:0|1:32584161_G_A:2846,0,2846:32584161	8	0	8	3
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	36894.9	402	chr6	32584177	.	CG	*	36894.9	.	AC=11;AF=0.289;AN=38;BaseQRankSum=3.25;DP=4323;ExcessHet=5.5644;FS=1.8;InbreedingCoeff=-0.2667;MLEAC=11;MLEAF=0.289;MQ=53.78;MQRankSum=2.42;QD=9.69;ReadPosRankSum=0.473;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,44:150:99:0|1:32584161_G_A:4040,2333,3246:32584161	10	2	7	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	8530.17	402	chr6	32584178	.	G	*	8530.17	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.31;DP=4315;ExcessHet=3.6106;FS=1.159;InbreedingCoeff=-0.1709;MLEAC=18;MLEAF=0.474;MQ=53.54;MQRankSum=-3.51;QD=2.37;ReadPosRankSum=0.706;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,81:150:99:0|1:32584161_G_A:3289,0,1150:32584161	3	2	14	0
chr6	32584179	32584179	-	TT	exonic	HLA-DRB1	.	frameshift insertion	HLA-DRB1:NM_002124:exon2:c.299_300insAA:p.R101Sfs*29	.	348	1167	5	0	2	7	0.00213767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0002	0.0004	0	0	0.0003	0	0	7.68e-05	2	26028	rs746231220	0.0018	0.0036	0.0018	0.0018	0.0070	0.0017	0.0017	0.0062	0.0059	0.0070	0.0039	0.0017	0	0.0005	0.0051	0.0018	0.0021	0.0007	0.0006	0.0037	0.0007	0.0005	0.0009	0.0005	0.0004	0.0006	0.0005	0.0009	0	0.0004	0	0	0.0003	0	0.0006	0.0008	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	637.29	391	chr6	32584179	.	C	CTT	637.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.03;DP=4149;ExcessHet=0;FS=17.728;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=45.98;MQRankSum=1.25;QD=4.09;ReadPosRankSum=-2.93;SOR=2.967	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,25:156:99:0|1:32584179_C_CTT:651,0,5360:32584179	18	0	1	0
chr6	32584280	32584280	C	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon2:c.G199C:p.V67L	.	1	1389	105	1	26	133	0.0370884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	.	.	.	0.0204	0.0214	0.0272	0.0104	0.0245	0.0234	0.0154	0.0068	0.0077993	203	26028	rs17878614	0.0002	0.0028	0.0002	0.0003	0.0003	0.0002	0.0002	0.0003	0.0002	0.0002	4.679e-05	0	5.842e-05	0.0003	0	0.0003	0.0002	1.237e-05	0.0003	0.0034	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0003	0.0003	0	0.0004	0	0.0005	0.0004	0	0.0004	0	0	0.226	0.18562	T	0.298	0.20486	T	0.0	0.02946	B	0.0	0.01387	B	0.839475	0.06991	N	1.086700	1	0.08975	N	.	.	.	7.94	0.00325	T	-1.68	0.40082	N	0.034	0.00942	-0.9628	0.38645	T	0.000	0.00039	T	10	0.0073911548	0.00168	T	.	.	.	0.344	0.66582	0.357	0.35897	.	.	0.2725535461198692	0.27168	0.70435521742	0.61311	.	.	.	0.017737	0.14423	T	-0.487391	0.00672	T	-0.472202	0.25279	T	0.01040418298686	0.00143	T	0.0464954	0.00331	T	0.43241236	0.62909	0.15221174	0.35821	0.43241236	0.62910	0.15221174	0.35820	-5.471	0.41596	T	.	.	0.165	0.36375	B	.	.	-0.978415	0.00802	0.026	0.41590716082416673	0.03011	0.01461	0.04883	N	AEFDGBCIJ	0.181378	0.30869	N	-2.69307713427383	0.00005	0.0002449113	-2.79087809953605	0.00004	0.0002126685	0.999999999857912	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.616125	0.45549	0	.	.	3.52	-7.04	0.01423	-2.303000	0.01216	.	.	-4.118000	0.00042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1964:0.2042:0.3874:0.212	2.062	0.03376	934	0.15400	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	0.083246	0.121212	0.117166	0.037037	0.100000	0.087719	0.060976	0.041985	0.05263	7552.83	577	chr6	32584280	.	C	G	7552.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.39;DP=8338;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=54.6;MQRankSum=2.42;QD=7.17;ReadPosRankSum=-0.695;SOR=0.719	GT:AD:DP:GQ:PL	0/1:354,104:458:99:3301,0,14529	17	0	2	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	53026.9	322	chr6	32584370	.	G	*	53026.9	.	AC=15;AF=0.417;AN=36;BaseQRankSum=3.39;DP=5457;ExcessHet=0.2833;FS=5.809;InbreedingCoeff=0.0877;MLEAC=15;MLEAF=0.417;MQ=53.43;MQRankSum=-13.94;QD=10.7;ReadPosRankSum=-1.02;SOR=1.11	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,164:254:99:.:.:10755,3783,3282:.	3	0	15	1
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8603.32	126	chr6	32641444	.	G	*	8603.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.16;DP=3608;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.46;MQRankSum=-11.23;QD=2.84;ReadPosRankSum=-3.962;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,118:118:99:1|1:32641435_C_T:5310,355,0:32641435	4	4	11	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8744.32	123	chr6	32641445	.	A	*	8744.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.85;DP=3609;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.48;MQRankSum=-11.25;QD=2.89;ReadPosRankSum=-3.865;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,118:118:99:1|1:32641435_C_T:5310,355,0:32641435	4	4	11	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8228.31	130	chr6	32641462	.	G	*	8228.31	.	AC=20;AF=0.526;AN=38;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=56.58;QD=2.65;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,103:103:99:1|1:32641435_C_T:4629,310,0:32641435	3	4	12	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8147.31	129	chr6	32641464	.	T	*	8147.31	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.229;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=57.44;MQRankSum=-9.417;QD=2.64;ReadPosRankSum=-2.677;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,103:103:99:1|1:32641435_C_T:4629,310,0:32641435	3	4	12	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	17426.3	154	chr6	32641501	.	G	*	17426.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.31;DP=3915;ExcessHet=1.7862;FS=1.137;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.28;MQRankSum=-6.588;QD=5.23;ReadPosRankSum=1.7;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,92:92:99:1|1:32641487_G_C:4140,277,0:32641487	4	4	11	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18488.6	155	chr6	32641522	.	A	*	18488.6	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.13;DP=4106;ExcessHet=1.7862;FS=3.314;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.48;MQRankSum=-6.247;QD=5.33;ReadPosRankSum=2.42;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,82:82:99:1|1:32641487_G_C:3575,247,0:32641487	4	4	11	0
chr6	32976813	32976813	G	C	exonic	BRD2	.	nonsynonymous SNV	BRD2:NM_001199455:exon6:c.G1077C:p.E359D,BRD2:NM_001199456:exon6:c.G936C:p.E312D,BRD2:NM_001113182:exon7:c.G1077C:p.E359D,BRD2:NM_005104:exon7:c.G1077C:p.E359D,BRD2:NM_001291986:exon8:c.G717C:p.E239D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.00495405745945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.37118	T	0.074	0.50809	T	0.859	0.47319	P	0.583	0.50264	P	0.000100	0.51296	D	0.000000	0.999954	0.52396	D	1.39	0.34934	L	1.69	0.27032	T	-2.46	0.54382	N	0.374	0.41656	-0.9159	0.46103	T	0.139	0.45791	T	10	0.7555315	0.75953	D	0.004954	0.12473	T	0.214	0.50650	0.764	0.89213	0.795092722254	0.79318	0.38390423038742355	0.38305	.	.	0.88716673851	0.94903	D	0.25597	0.62682	T	-0.0318077	0.47154	T	-0.283466	0.46448	T	0.861240744590759	0.51164	D	0.932807	0.74830	D	0.2851387	0.51537	0.24049516	0.49424	0.2851387	0.51536	0.24049516	0.49423	-8.011	0.62707	D	.	.	0.316	0.68110	B	.;.;.;.;.	.;.;.;.;.	1.317149	0.17209	13.02	0.99724235207631218	0.82266	0.64946	0.32573	D	AEFBHCI	0.651563	0.62527	D	-0.254297126603731	0.30933	1.729516	-0.327949304023803	0.27200	1.507636	0.999993130444119	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.08	-0.139	0.12803	0.063000	0.14285	.	.	-0.748000	0.03609	0.005000	0.17040	0.997000	0.33255	0.984000	0.60418	0.4072:0.0:0.5928:0.0	9.394	0.37553	906	0.23090	Bromodomain|Bromodomain;Bromodomain|Bromodomain;Bromodomain|Bromodomain;.;Bromodomain|Bromodomain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	2816.55	208	chr6	32976813	.	G	C	2816.55	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-4.205;DP=2575;ExcessHet=11.1788;FS=157.461;InbreedingCoeff=-0.4982;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=1.4;SOR=11.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:108,11:126:55:.:.:55,0,3726:.	12	0	6	1
chr6	36986128	36986128	C	A	exonic	MTCH1	.	nonsynonymous SNV	MTCH1:NM_001271641:exon1:c.G46T:p.A16S,MTCH1:NM_014341:exon1:c.G46T:p.A16S	.	456	1057	8	1	0	10	0.0047081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	0.00219649	0.0058	0	0	0	.	0.0047	0	0.0066	0.0005239	81	154602	rs564000422	0.0009	0.0008	0.0008	0.0010	0.0079	0.0008	0.0008	0.0057	0.0049	0.0003	0.0016	0.0022	0.0001	9.237e-05	0.0079	0.0006	0.0013	0.0046	0.0007	0.0007	0.0007	0.0007	0.0052	0.0006	0.0006	0.0036	0.0031	9.637e-05	0	0.0015	0.0029	0	0	0.0138	0.0005	0.0019	0.0052	0.0	0.91255	D	0.0	0.92824	D	0.086	0.24919	B	0.012	0.16012	B	.	.	.	.	0.965373	0.25941	N	1.245	0.31408	L	1.37	0.34253	T	-0.03	0.07444	N	0.391	0.43223	-1.0740	0.08556	T	0.023	0.09832	T	9	0.0047652423	0.00101	T	.	.	.	0.037	0.09474	0.248	0.18447	0.223474106383	0.21959	0.11307516205822211	0.11235	0.804444842455	0.66392	0.916550040245	0.98049	D	0.006923	0.06344	T	-0.371776	0.03506	T	-0.30654	0.44030	T	0.132793025627819	0.15638	T	0.716728	0.32905	T	0.17461944	0.38276	0.3202021	0.57976	0.17461944	0.38275	0.3202021	0.57976	-5.499	0.42370	T	.	.	0.133	0.28835	B	.;.	.;.	2.979196	0.39734	21.0	0.98995713057757562	0.50044	0.96773	0.70862	D	ALL	0.125880	0.24258	N	-0.39203162948028	0.25752	1.40029	-0.278665749246669	0.28803	1.608724	0.999999999999941	0.74766	0.006267	0.00052	3	0.218748	0.04544	0	0.47417	0.07244	0	0.249971	0.05119	0	.	.	3.79	1.92	0.24912	1.010000	0.29500	5.455000	0.48656	0.546000	0.25710	0.073000	0.22155	1.000000	0.68203	0.997000	0.79791	0.0:0.6552:0.2211:0.1237	4.894	0.13096	847	0.35998	.;.	.	.	.	.	.	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	0.008565	0.000000	0.000000	0.018692	0.000000	0.000000	0.005682	0.016667	0.02632	327.34	17	chr6	36986128	.	C	A	327.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.361;DP=348;ExcessHet=0;FS=2.831;InbreedingCoeff=-0.0274;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.37;ReadPosRankSum=0.198;SOR=0.112	GT:AD:DP:GQ:PL	0/1:7,13:20:99:341,0,231	18	0	1	0
chr6	38862329	38862329	C	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon43:c.C5530T:p.P1844S,DNAH8:NM_001206927:exon44:c.C6181T:p.P2061S	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552	0.0931048064717	.	.	9.067e-05	0	0	0	0	0.0002	0	0	7.76e-05	12	154602	rs759134218	8.551e-05	8.551e-05	8.304e-05	8.801e-05	0.0001	7.312e-05	6.816e-05	9.204e-05	8.612e-05	0	0	0	0	0	0	0.0001	8.279e-05	0	1.972e-05	1.97e-05	1.285e-05	2.691e-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	0.0	0.91255	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.895	0.96086	H	2.43	0.15261	T	-7.53	0.95131	D	0.753	0.78262	-0.5452	0.66967	T	0.185	0.53436	T	10	0.8317863	0.82340	D	0.093105	0.76013	D	0.552	0.81485	.	.	0.872021058145	0.87077	0.7842831624343366	0.78379	0.581083206835	0.53926	0.788076579571	0.80150	T	0.444693	0.78800	T	0.0777705	0.61778	D	0.110604	0.77613	D	0.998340606689453	0.93889	D	0.982402	0.94055	D	0.73400843	0.79951	0.87295955	0.93071	0.73400843	0.79952	0.87295955	0.93071	-9.524	0.71008	D	.	.	0.984	0.91996	P	.;.;.	.;.;.	3.990127	0.58720	24.0	0.99920837388199346	0.98721	0.99295	0.94095	D	AEFDBIJ	0.826034	0.74560	D	0.992384653085468	0.95506	13.68475	0.924058004596086	0.96538	14.82058	0.999999999999161	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	6.04	6.04	0.98025	5.973000	0.70153	7.721000	0.67307	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.858000	0.40661	0.0:1.0:0.0:0.0	20.595	0.99442	563	0.71062	Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1|AAA+ ATPase domain;Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1|AAA+ ATPase domain;Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1|AAA+ ATPase 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	.	.	.	.	.	.	.	.	0.02632	888.33	33	chr6	38862329	.	C	T	888.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=689;ExcessHet=0;FS=2.219;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.622;SOR=1.119	GT:AD:DP:GQ:PL	0/1:38,31:69:99:902,0,1027	18	0	1	0
chr6	39360510	39360510	C	T	exonic	KIF6	.	nonsynonymous SNV	KIF6:NM_001289024:exon5:c.G320A:p.R107H,KIF6:NM_001351566:exon5:c.G320A:p.R107H,KIF6:NM_001289020:exon17:c.G1916A:p.R639H,KIF6:NM_001289021:exon17:c.G1799A:p.R600H,KIF6:NM_145027:exon18:c.G1967A:p.R656H	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00452617620925	7.7e-05	0.000199681	8.238e-05	0	0	0.0008	0	2.997e-05	0	6.057e-05	7.12e-05	11	154602	rs141566437	0.0001	0.0001	0.0001	0.0001	0.0041	0.0001	0.0001	0.0036	0.0034	2.987e-05	0	0.0001	0.0041	0	0	1.439e-05	6.623e-05	4.637e-05	3.283e-05	3.281e-05	3.854e-05	2.685e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	1.47e-05	0	0	0.171	0.32141	T	0.216	0.37449	T	0.004	0.12183	B	0.005	0.11217	B	.	.	.	.	0.882674	0.28021	N	1.215	0.30540	L	0.97	0.42502	T	-2.13	0.58733	N	0.06	0.12198	-1.0170	0.24690	T	0.026	0.11309	T	9	0.03970653	0.02481	T	0.004526	0.11125	T	0.045	0.12272	.	.	0.372087925617	0.36815	0.16409342952823217	0.16329	0.0747485147847	0.08389	0.226579591632	0.01725	T	0.011276	0.10082	T	-0.528989	0.00389	T	-0.598753	0.12915	T	0.0648491250490725	0.07909	T	0.80392	0.53056	T	0.045611344	0.07495	0.090805925	0.21316	0.045611344	0.07494	0.090805925	0.21316	-8.452	0.64111	D	.	.	0.063	0.02829	B	.;.;.;.	.;.;.;.	1.386403	0.17983	13.48	0.97500386537806427	0.34293	0.50399	0.28654	D	AEFDBI	0.143427	0.26612	N	-0.732915386898148	0.15102	0.7581327	-0.676461037196016	0.17550	0.9336731	3.77095346589269E-4	0.06745	0.57788	0.32782	0	0.547309	0.14657	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	4.47	-0.875	0.10089	-0.127000	0.10524	-2.269000	0.03972	-0.182000	0.10109	0.576000	0.27554	0.000000	0.08366	0.987000	0.62547	0.0:0.6752:0.0:0.3248	10.489	0.43924	908	0.22609	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	797.33	37	chr6	39360510	.	C	T	797.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.47;DP=695;ExcessHet=0;FS=1.953;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.525;SOR=0.487	GT:AD:DP:GQ:PL	0/1:38,33:71:99:811,0,827	18	0	1	0
chr6	41228834	41228834	C	T	exonic	TREML4	.	nonsynonymous SNV	TREML4:NM_198153:exon2:c.C184T:p.R62W	.	427	1084	11	0	0	11	0.00504819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0191583809234	.	0.000599042	0.0005	0	8.637e-05	0	0	7.493e-05	0	0.0033	0.0004269	66	154602	rs200638061	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	6.708e-05	0.0003	0	0	0.0023	3.237e-05	0.0004	0.0030	0.0002	0.0002	0.0001	0.0002	0.0029	0.0001	9.235e-05	0.0018	0.0014	0	0	6.533e-05	0.0003	0	0	0	0.0001	0.0005	0.0029	0.039	0.42487	D	0.059	0.45961	T	0.169	0.28678	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	2.715	0.79425	M	-0.19	0.65931	T	-2.32	0.51478	N	0.081	0.05799	-1.0807	0.07214	T	0.065	0.26948	T	9	0.010712922	0.00237	T	0.019158	0.41446	T	0.125	0.34456	.	.	0.0482279557977	0.04254	0.20330204343147407	0.20247	0.0322088536778	0.03353	0.185254722834	0.00152	T	0.016713	0.13762	T	-0.542186	0.00325	T	-0.555892	0.16765	T	0.0276946511148524	0.01644	T	0.349165	0.07749	T	0.040865477	0.05912	0.050622743	0.07982	0.040865477	0.05912	0.050622743	0.07981	-4.719	0.33634	T	.	.	0.126	0.26825	B	.;.	.;.	-1.411991	0.00352	0.006	0.75796612860227541	0.11214	0.01918	0.05863	N	ALL	0.035849	0.04681	N	-1.92640391321009	0.00303	0.01300183	-2.09913866290265	0.00187	0.00824067	0.999999999997308	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.596394	0.31383	0	0.542086	0.14980	0	.	.	4.35	-8.7	0.00738	-2.214000	0.01307	-14.148000	0.00419	-3.462000	0.00083	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1329:0.4011:0.1694:0.2967	2.413	0.04159	911	0.21964	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	2109.83	40	chr6	41228834	.	C	T	2109.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.397;DP=863;ExcessHet=0.119;FS=1.266;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.349;SOR=0.559	GT:AD:DP:GQ:PL	0/1:44,38:82:99:1057,0,1200	17	0	2	0
chr6	41736997	41736997	C	A	exonic	PGC	.	nonsynonymous SNV	PGC:NM_002630:exon9:c.G1022T:p.G341V	.	415	1077	28	2	0	32	0.0146386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0221586271214	0.0005	0.00119808	0.0016	0	0.0003	0.0001	0.0002	0.0007	0.0023	0.0087	0.0013066	202	154602	rs146485859	0.0009	0.0009	0.0007	0.0012	0.0080	0.0009	0.0009	0.0075	0.0073	8.966e-05	0.0004	0.0013	0.0001	9.37e-05	0.0061	0.0005	0.0015	0.0080	0.0007	0.0007	0.0005	0.0008	0.0075	0.0006	0.0005	0.0055	0.0049	0.0002	0	0.0004	0.0023	0.0002	0	0.0068	0.0006	0.0014	0.0075	0.001	0.78490	D	0.078	0.42261	T	0.936	0.52359	P	0.847	0.60522	P	0.746298	0.06458	N	1.119980	0.999995	0.08975	N	3.685	0.94485	H	1.07	0.39586	T	-5.73	0.87611	D	0.418	0.45803	-0.9639	0.38428	T	0.181	0.52889	T	10	0.017688364	0.00379	T	0.022159	0.45019	T	0.071	0.20720	.	.	0.53177700221	0.52827	0.8226655142697801	0.82223	0.458892560868	0.45492	0.305901169777	0.11288	T	0.087464	0.37947	T	-0.459583	0.00989	T	-0.427808	0.30186	T	0.126171198449256	0.15024	T	0.59644	0.22167	T	0.3811278	0.59398	0.4182421	0.65854	0.3811278	0.59398	0.4182421	0.65854	-9.789	0.72638	D	.	.	0.359	0.57142	A	.	.	2.044254	0.25985	16.96	0.98421708193010871	0.41288	0.23523	0.22103	N	AEFDBI	0.215925	0.34123	N	-0.318322445950699	0.28453	1.569451	-0.613910533028169	0.19135	1.025364	0.999942990448201	0.47345	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.564101	0.26826	0	.	.	4.82	-0.397	0.11804	0.696000	0.25220	-1.193000	0.06063	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.603:0.1171:0.28	6.667	0.22237	605	0.67457	Peptidase family A1 domain|Peptidase family A1 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	0.008586	0.000000	0.004087	0.005848	0.000000	0.034483	0.009202	0.015267	0.02632	1205.33	34	chr6	41736997	.	C	A	1205.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.102;DP=739;ExcessHet=0;FS=0.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.403;SOR=0.595	GT:AD:DP:GQ:PL	0/1:55,47:102:99:1219,0,1471	18	0	1	0
chr6	42142395	42142395	T	C	exonic	C6orf132	.	nonsynonymous SNV	C6orf132:NM_001164446:exon1:c.A50G:p.K17R	.	391	1081	48	2	0	52	0.0234869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0061	0.00898562	0.0146	0.0009	0.0099	0.0016	0.0433	0.0091	0.0260	0.0245	0.0035511	549	154602	rs138013556	0.0092	0.0089	0.0088	0.0097	0.0242	0.0091	0.0091	0.0233	0.0230	0.0010	0.0038	0.0034	5.597e-05	0.0180	0.0136	0.0087	0.0080	0.0242	0.0081	0.0081	0.0078	0.0084	0.0238	0.0077	0.0076	0.0203	0.0190	0.0012	0	0.0033	0.0032	0	0.0181	0.0068	0.0118	0.0038	0.0238	0.033	0.44358	D	0.046	0.49120	D	.	.	.	.	.	.	0.025124	0.26142	N	0.263134	0.992795	0.23824	N	1.43	0.35840	L	0.08	0.61559	T	-1.83	0.55821	N	0.094	0.07398	-1.0601	0.11731	T	0.066	0.27087	T	8	0.0038990676	0.00074	T	.	.	.	0.052	0.14661	.	.	.	.	0.1582670425571511	0.15747	.	.	.	.	.	0.026122	0.19398	T	-0.490269	0.00647	T	-0.458761	0.26736	T	0.0113426682460786	0.00168	T	0.630137	0.26349	T	0.08512834	0.19732	0.17037952	0.39143	0.08512834	0.19732	0.17037952	0.39142	-7.258	0.55896	T	.	.	0.112	0.21803	B	.;.	.;.	2.579607	0.33447	19.34	0.99408907045625905	0.63169	0.74913	0.36659	D	AEFDBCI	0.280787	0.39452	N	0.0307429045213938	0.43257	2.622233	0.103904128617391	0.44748	2.750582	0.999999972454606	0.74766	0.455138	0.09556	0	0.563428	0.19063	0	0.52208	0.10781	0	0.56751	0.32155	0	.	.	5.66	3.28	0.36691	2.066000	0.41078	2.670000	0.33941	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.1742:0.0:0.8258	7.218	0.25145	797	0.45241	.;.	.	.	.	.	.	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	0.012121	0.005435	0.019231	0.012605	0.000000	0.000000	0.015306	0.026786	0.07895	3818.77	33	chr6	42142395	.	T	C	3818.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.757;DP=792;ExcessHet=0;FS=1.98;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=19.48;ReadPosRankSum=0.373;SOR=0.546	GT:AD:DP:GQ:PL	1/1:0,90:90:99:2663,270,0	17	1	1	0
chr6	43072846	43072846	C	T	exonic	KLC4	.	nonsynonymous SNV	KLC4:NM_001289035:exon12:c.C1280T:p.T427M,KLC4:NM_001289034:exon13:c.C1511T:p.T504M,KLC4:NM_201521:exon13:c.C1511T:p.T504M,KLC4:NM_201523:exon13:c.C1565T:p.T522M,KLC4:NM_201522:exon14:c.C1511T:p.T504M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.07195460169	.	.	8.251e-06	0	8.649e-05	0	0	0	0	0	6.5e-06	1	154602	rs745503574	1.779e-05	1.779e-05	1.498e-05	2.063e-05	8.949e-05	1.238e-05	1.052e-05	2.986e-05	1.805e-05	0	8.949e-05	0	0	0	0	1.439e-05	9.935e-05	0	4.604e-05	4.598e-05	8.999e-05	0	0.0003	2.111e-05	1.528e-05	0.0001	8.295e-05	2.415e-05	0	0.0003	0	0	0	0	1.471e-05	0	0	0.004	0.68238	D	0.061	0.47581	T	0.989	0.77913	D	0.649	0.60933	P	0.000171	0.48594	D	0.090226	0.999932	0.51612	D	1.995	0.54099	M	-1.21	0.78860	T	-2.64	0.62151	D	0.427	0.49420	-0.0062	0.82128	T	0.503	0.81261	D	10	0.35685816	0.52415	T	0.071955	0.71405	D	0.332	0.65424	0.163	0.06730	0.950236430655	0.94971	0.694056680421084	0.69346	0.903739830431	0.70750	0.668942630291	0.62687	T	0.082082	0.36747	T	-0.0494357	0.44532	T	-0.111816	0.62467	T	0.844089925289154	0.49664	D	0.957304	0.83911	D	0.17393522	0.38169	0.18115306	0.40961	0.17393522	0.38169	0.18115306	0.40960	-5.658	0.43318	T	.	.	0.109	0.26042	B	.;.;.;.;.	.;.;.;.;.	5.046803	0.84037	28.2	0.9990199915539768	0.97350	0.98836	0.87495	D	AEFBI	0.846489	0.76336	D	0.661428082922514	0.77111	6.612078	0.694058714485329	0.81925	7.642579	0.999997234139819	0.74766	0.732398	0.92422	0	0.659912	0.62753	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.89	5.89	0.94758	2.702000	0.46770	7.722000	0.67351	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.437	0.90597	264	0.89640	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1275.33	33	chr6	43072846	.	C	T	1275.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=0.115;SOR=0.618	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1289,0,884	18	0	1	0
chr6	75314504	75314504	C	T	exonic	FILIP1	.	nonsynonymous SNV	FILIP1:NM_001300866:exon5:c.G1328A:p.S443N,FILIP1:NM_015687:exon5:c.G1328A:p.S443N,FILIP1:NM_001289987:exon6:c.G1337A:p.S446N	.	430	1080	11	1	0	13	0.00598251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00653772445992	0.0014	.	0.0015	0.0002	0.0013	0	0.0002	0.0022	0.0011	0.0015	0.0014877	230	154602	rs41269319	0.0014	0.0014	0.0013	0.0014	0.0113	0.0013	0.0013	0.0091	0.0083	0.0005	0.0016	0.0056	0	0.0001	0.0113	0.0013	0.0019	0.0010	0.0013	0.0013	0.0016	0.0011	0.0020	0.0012	0.0011	0.0016	0.0015	0.0003	0	0.0020	0.0058	0.0002	0	0.0136	0.0019	0.0024	0.0006	0.61	0.06735	T	0.668	0.06448	T	0.001	0.07471	B	0.012	0.16012	B	0.000009	0.62929	D	0.173959	0.69244	0.30179	N	0.205	0.09354	N	2.23	0.18083	T	0.01	0.06868	N	0.19	0.21056	-0.9887	0.32928	T	0.011	0.03996	T	10	0.00881657	0.00200	T	0.006538	0.17243	T	0.104	0.29647	.	.	0.584212540733	0.58094	0.04625965896914498	0.04569	0.163800729351	0.18476	0.580128312111	0.50103	T	0.008616	0.07902	T	-0.614747	0.00119	T	-0.661675	0.08153	T	0.00937362353424962	0.00120	T	0.874313	0.59828	D	0.13260126	0.30871	0.12722658	0.30629	0.13260126	0.30871	0.12722658	0.30629	-4.454	0.30560	T	.	.	0.095	0.20508	B	.;.;.	.;.;.	2.244109	0.28660	17.87	0.87231487400929031	0.17080	0.83759	0.42856	D	AEFBI	0.340203	0.43710	N	-0.246344686721309	0.31250	1.75036	-0.00346568531012886	0.39559	2.347357	0.836334565199002	0.24786	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.59522	0.37078	0	.	.	5.65	5.65	0.86881	1.239000	0.32322	6.015000	0.52706	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.0:0.7393:0.2607:0.0	14.898	0.70301	825	0.40060	.;.;.	.	.	.	.	.	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	0.010070	0.020202	0.009511	0.005848	0.000000	0.025862	0.009146	0.007576	0.02632	1740.33	47	chr6	75314504	.	C	T	1740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.652;DP=941;ExcessHet=0;FS=1.395;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.361;SOR=0.839	GT:AD:DP:GQ:PL	0/1:69,59:128:99:1754,0,2014	18	0	1	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D,TTK:NM_003318:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	8032.55	22	chr6	80007990	.	G	C	8032.55	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-2.203;DP=910;ExcessHet=8.9063;FS=213.455;InbreedingCoeff=-0.5526;MLEAC=12;MLEAF=0.429;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.928;SOR=11.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,25:58:99:0|1:80007990_G_C:812,0,1311:80007990	4	0	10	5
chr6	80007992	80007992	G	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	394.98	21	chr6	80007992	.	G	*	394.98	.	AC=11;AF=0.458;AN=24;BaseQRankSum=0.548;DP=887;ExcessHet=22.5857;FS=247.209;InbreedingCoeff=-0.5703;MLEAC=15;MLEAF=0.625;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.65;SOR=11.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,25:58:99:0|1:80007990_G_C:812,0,1311:80007990	1	0	11	7
chr6	80007993	80007993	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	397.65	21	chr6	80007993	.	T	*	397.65	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-0.741;DP=803;ExcessHet=12.7857;FS=238.801;InbreedingCoeff=-0.3118;MLEAC=12;MLEAF=0.75;MQ=60;MQRankSum=0;QD=0.96;ReadPosRankSum=1.99;SOR=10.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,25:58:99:0|1:80007990_G_C:812,0,1311:80007990	1	0	7	11
chr6	80007995	80007995	-	CCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.326_327insCCCC:p.A110Pfs*3,TTK:NM_003318: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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2459.5	21	chr6	80007995	.	T	TCCCC	2459.5	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.037;DP=798;ExcessHet=15.1594;FS=240.59;InbreedingCoeff=-0.3379;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=5.27;ReadPosRankSum=2.01;SOR=10.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,24:57:99:0|1:80007990_G_C:770,0,1314:80007990	6	0	4	9
chr6	80106808	80106808	G	T	exonic	BCKDHB	.	nonsynonymous SNV	BCKDHB:NM_000056:exon1:c.G115T:p.A39S,BCKDHB:NM_183050:exon1:c.G115T:p.A39S	Maple syrup urine disease, type Ib, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.251241563239	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914935376	6.888e-07	4.788e-06	0	1.386e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.661	0.05808	T	0.939	0.03223	T	0.001	0.07471	B	0.001	0.04355	B	0.358709	0.04290	N	1.320170	1	0.08975	N	1.04	0.26193	L	-4.11	0.96687	D	0.35	0.03761	N	0.12	0.13911	-0.2687	0.75846	T	0.377	0.73490	T	10	0.054461718	0.05802	T	0.251242	0.89124	D	0.261	0.57352	0.274	0.22528	0.549207062979	0.54577	0.3478569502397165	0.34699	0.179474252234	0.20186	0.5615234375	0.47483	T	0.12266	0.44650	T	-0.0596844	0.42958	T	-0.323509	0.42189	T	0.0462015404432569	0.04820	T	0.394461	0.09873	T	0.042223055	0.06364	0.055307213	0.09676	0.042223055	0.06364	0.055307213	0.09675	-4.681	0.33319	T	.	.	0.085	0.10111	B	.;.;.	.;.;.	0.005927	0.04325	1.096	0.69912200788690515	0.09124	0.00742	0.03097	N	ALL	0.042431	0.06582	N	-2.03788265199367	0.00175	0.007506602	-1.99635476340057	0.00312	0.01375986	0.999999999997396	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.47	-2.8	0.05477	-0.655000	0.05447	-1.229000	0.05965	-0.882000	0.02455	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0671:0.1833:0.3267:0.4228	4.802	0.12668	845	0.36510	.;.;.	.	.	.	.	.	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	0.015832	0.015625	0.014946	0.029412	0.000000	0.008772	0.006452	0.018939	0.02632	1631.33	38	chr6	80106808	.	G	T	1631.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.066;DP=836;ExcessHet=0;FS=0.722;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=-0.703;SOR=0.828	GT:AD:DP:GQ:PL	0/1:48,64:112:99:1645,0,1108	18	0	1	0
chr6	83140255	83140255	A	T	exonic	DOP1A	.	nonsynonymous SNV	DOP1A:NM_001199942:exon23:c.A5240T:p.E1747V,DOP1A:NM_015018:exon23:c.A5267T:p.E1756V	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.0137294937159	.	0.000199681	2.486e-05	0	0	0	0	3.009e-05	0	6.188e-05	2.59e-05	4	154602	rs202197480	2.464e-05	2.531e-05	1.498e-05	3.44e-05	0.0009	1.804e-05	1.601e-05	0.0003	0.0002	0	0	0	0	0	0.0009	1.619e-05	8.282e-05	9.284e-05	6.565e-06	6.562e-06	0	1.343e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.073	0.34800	T	0.02	0.58613	D	0.449	0.36046	B	0.283	0.40424	B	0.000000	0.84330	D	0.045294	0.999994	0.58761	D	1.7	0.43825	L	1.77	0.25841	T	-3.36	0.66549	D	0.667	0.70439	-1.1405	0.01340	T	0.046	0.19599	T	10	0.41601387	0.56546	T	0.013729	0.33353	T	0.367	0.68670	.	.	0.110392049598	0.10638	0.5633002812899042	0.56257	0.336931717026	0.35691	0.491390824318	0.37631	T	0.207915	0.56769	T	0.0790591	0.61929	D	-0.0235836	0.68792	D	0.741109013557434	0.42796	D	0.968303	0.88511	D	0.3104172	0.53822	0.30042157	0.56076	0.3104172	0.53822	0.30042157	0.56075	-6.592	0.50992	T	.	.	0.402	0.60931	A	.;.;.	.;.;.	4.183327	0.62987	24.5	0.99063631236998206	0.51551	0.99239	0.93282	D	AEFBI	0.866403	0.78581	D	0.362991639802882	0.59430	4.122217	0.474562704168843	0.66310	4.935353	0.999994056582872	0.74766	0.706548	0.73137	0	0.601575	0.49859	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.34	5.34	0.75982	8.863000	0.91893	11.199000	0.88958	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	15.615	0.76509	667	0.61242	.;.;.	.	.	.	.	.	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	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	2343.33	34	chr6	83140255	.	A	T	2343.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.627;DP=811;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.57;SOR=0.668	GT:AD:DP:GQ:PL	0/1:95,98:193:99:2357,0,2353	18	0	1	0
chr6	84185300	84185300	T	A	exonic	CEP162	.	nonsynonymous SNV	CEP162:NM_001286206:exon13:c.A1322T:p.K441I,CEP162:NM_014895:exon13:c.A1550T:p.K517I	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0448688146976	7.7e-05	0.000199681	3.295e-05	0	0	0	0	5.994e-05	0	0	3.23e-05	5	154602	rs138534182	1.847e-05	1.847e-05	1.77e-05	1.926e-05	2.987e-05	1.265e-05	1.084e-05	1.378e-05	1.151e-05	2.987e-05	2.236e-05	0	0	0	0	2.069e-05	3.313e-05	0	1.97e-05	1.968e-05	2.57e-05	1.343e-05	2.942e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.406e-05	0	0	0	0	0	0	2.942e-05	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.000000	0.915859	0.36537	D	2.25	0.63811	M	1.64	0.27822	T	-3.41	0.68764	D	0.595	0.62950	-0.7983	0.55244	T	0.146	0.46967	T	10	0.5222887	0.62711	D	0.044869	0.61700	D	0.181	0.45247	.	.	0.357313475932	0.35345	0.47005365993746906	0.46924	0.129804655115	0.14634	0.508406817913	0.40000	T	0.180064	0.53127	T	-0.113517	0.34188	T	-0.219308	0.52803	T	0.906595826148987	0.56065	D	0.847215	0.52823	T	0.4568135	0.64473	0.3632826	0.61718	0.4568135	0.64473	0.3632826	0.61718	-5.283	0.40775	T	.	.	0.311	0.58634	B	.;.;.	.;.;.	3.748479	0.53721	23.4	0.99557273005918812	0.71521	0.87804	0.47470	D	AEFBI	0.336059	0.43429	N	0.658767819206445	0.76936	6.579459	0.613151760997444	0.75893	6.392024	0.0705829429464254	0.15533	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	5.34	5.34	0.75982	2.493000	0.44979	4.216000	0.42563	-0.133000	0.13014	1.000000	0.71638	1.000000	0.68203	0.812000	0.38265	0.0:0.0:0.0:1.0	12.973	0.57923	590	0.68897	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2374.33	33	chr6	84185300	.	T	A	2374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.115;DP=790;ExcessHet=0;FS=2.961;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=0.017;SOR=0.645	GT:AD:DP:GQ:PL	0/1:59,92:151:99:2388,0,1454	18	0	1	0
chr6	87258959	87258959	C	T	exonic	ZNF292	.	nonsynonymous SNV	ZNF292:NM_015021:exon8:c.C5330T:p.S1777F,ZNF292:NM_001351444:exon9:c.C4910T:p.S1637F	.	437	1081	3	1	0	5	0.00230734	.	.	.	963618	not_provided|Intellectual_disability	MedGen:C3661900|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	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.063	0.00370096954048	0.0003	0.000998403	0.0006	0	0.0004	0	0	0.0010	0	6.504e-05	0.0005175	80	154602	rs41273279	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0003	0.0008	0.0006	5.979e-05	0.0007	0.0005	0	1.875e-05	0.0016	0.0004	0.0007	1.161e-05	0.0006	0.0006	0.0005	0.0007	0.0020	0.0005	0.0004	0.0015	0.0013	2.405e-05	0	0.0020	0.0014	0	0	0.0034	0.0007	0.0014	0	0.048	0.40068	D	0.148	0.33109	T	0.001	0.07471	B	0.001	0.04355	B	0.228565	0.15972	N	0.650512	0.934	0.37076	D	0.805	0.20218	L	3.28	0.06523	T	-0.24	0.10833	N	0.125	0.26837	-0.9338	0.43575	T	0.005	0.01578	T	10	0.010340393	0.00230	T	0.003701	0.08558	T	0.063	0.18251	.	.	0.0934897674506	0.08844	0.3709085327064685	0.37004	.	.	0.323739498854	0.13987	T	0.031491	0.22066	T	-0.511367	0.00493	T	-0.580125	0.14534	T	0.0143269353637633	0.00286	T	0.70183	0.31167	T	0.05840593	0.11747	0.065047026	0.13126	0.05840593	0.11747	0.065047026	0.13126	-4.444	0.30149	T	0.07568557621655554	0.03392	0.110	0.21087	B	.;.	.;.	2.251421	0.28762	17.90	0.9541005240397018	0.26873	0.54381	0.29602	D	AEFGBCI	0.067269	0.13216	N	-0.142977356370361	0.35534	2.042268	0.0714813914225473	0.43123	2.62054	0.996824817227715	0.35039	0.732398	0.92422	0	0.743671	0.97443	0	0.696353	0.63694	0	0.683762	0.67416	0	.	.	5.59	4.5	0.54382	1.762000	0.38080	4.883000	0.45686	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.6867:0.0:0.3133	4.144	0.09674	824	0.40336	.;.	.	.	.	.	.	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	1	0	0.003528	0.000000	0.004076	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	1526.33	62	chr6	87258959	.	C	T	1526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.47;DP=1323;ExcessHet=0;FS=1.478;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.917;SOR=0.756	GT:AD:DP:GQ:PL	0/1:64,53:117:99:1540,0,1889	18	0	1	0
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3	996.02	46	chr6	87418396	.	G	C	996.02	.	AC=9;AF=0.3;AN=30;BaseQRankSum=-1.179;DP=1225;ExcessHet=5.3738;FS=245.846;InbreedingCoeff=-0.41;MLEAC=10;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=1.97;SOR=11.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,22:67:32:.:.:32,0,706:.	6	0	9	4
chr6	89749260	89749260	T	C	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon26:c.A3725G:p.Y1242C	.	426	1086	10	0	0	10	0.00458295	.	.	.	3213514	MDN1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.523	0.0313913090217	0.0025	0.00159744	0.0030	0.0005	0.0022	0.0001	0.0088	0.0037	0.0044	0.0013	0.0027684	428	154602	rs116229207	0.0026	0.0026	0.0025	0.0026	0.0045	0.0025	0.0025	0.0032	0.0027	0.0004	0.0023	0.0042	0	0.0081	0.0045	0.0025	0.0029	0.0015	0.0029	0.0029	0.0026	0.0032	0.0034	0.0027	0.0026	0.0029	0.0027	0.0007	0	0.0034	0.0066	0.0002	0.0098	0.0068	0.0032	0.0038	0.0010	0.001	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.971	0.72444	D	0.000011	0.62929	D	0.069074	0.999991	0.58761	D	3.585	0.93597	H	1.08	0.39401	T	-7.49	0.96114	D	0.726	0.72746	-0.3588	0.73298	T	0.268	0.63897	T	10	0.011338592	0.00248	T	0.031391	0.53482	D	0.523	0.79765	.	.	0.627166375196	0.62412	0.7458621553051547	0.74532	0.727410881426	0.62567	0.820598423481	0.85119	D	0.109892	0.42414	T	-0.0303542	0.47366	T	0.187627	0.82434	D	0.0656396319132975	0.08026	T	0.957904	0.87188	D	0.75075895	0.80912	0.71425563	0.83137	0.75075895	0.80914	0.71425563	0.83138	-9.591	0.71424	D	.	.	0.251	0.59511	B	.;.;.	.;.;.	3.874912	0.56279	23.7	0.99292491841649066	0.58326	0.97294	0.73849	D	AEFBI	0.699993	0.65716	D	0.726621447372549	0.81377	7.508034	0.62714239370836	0.76916	6.580402	0.967168621128335	0.28957	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.43	5.43	0.79006	5.731000	0.68201	7.703000	0.66393	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	15.500	0.75421	778	0.48011	.;.;.	.	.	.	.	.	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	0.002518	0.005051	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1041.33	33	chr6	89749260	.	T	C	1041.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.13;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=1.53;SOR=0.752	GT:AD:DP:GQ:PL	0/1:44,43:87:99:1055,0,1110	18	0	1	0
chr6	96203322	96203322	C	A	exonic	FUT9	.	nonsynonymous SNV	FUT9:NM_006581:exon3:c.C167A:p.T56N	.	433	1085	3	1	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00333785972147	0.0017	0.000199681	0.0010	0.0003	0.0007	0	0.0002	0.0014	0	0.0005	0.0009896	153	154602	rs139267189	0.0016	0.0017	0.0017	0.0016	0.0054	0.0016	0.0016	0.0039	0.0034	0.0004	0.0008	0.0004	0	0.0002	0.0054	0.0020	0.0013	0.0006	0.0009	0.0009	0.0011	0.0008	0.0015	0.0008	0.0007	0.0013	0.0012	0.0003	0	0.0009	0.0009	0.0002	0.0002	0	0.0015	0.0005	0.0012	0.575	0.06086	T	0.637	0.07037	T	0.002	0.09854	B	0.007	0.12992	B	0.076778	0.21143	N	0.517876	0.635579	0.32829	D	0.845	0.21182	L	1.72	0.26588	T	0.69	0.02195	N	0.066	0.03841	-1.0005	0.29774	T	0.010	0.03765	T	10	0.011121839	0.00244	T	0.003338	0.07451	T	0.064	0.18567	.	.	0.400613892164	0.39671	0.6917805625318851	0.69118	0.794022330084	0.65958	0.43852096796	0.30375	T	0.060997	0.31538	T	-0.63064	0.00095	T	-0.683574	0.06768	T	0.00743562119244462	0.00086	T	0.667533	0.27667	T	0.10546963	0.24937	0.08583739	0.19848	0.10546963	0.24937	0.08583739	0.19847	-2.927	0.09416	T	.	.	0.076	0.05935	B	.	.	1.214695	0.16082	12.30	0.8232744117708064	0.14135	0.95016	0.63133	D	AEFBI	0.439505	0.49845	N	-0.464386232651446	0.23255	1.247501	-0.240693411146143	0.30094	1.691459	2.14368860426715E-5	0.03498	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	4.65	2.69	0.30923	3.446000	0.52692	4.012000	0.41171	0.599000	0.40250	0.997000	0.40164	0.902000	0.27988	0.998000	0.85391	0.0:0.7259:0.2741:0.0	14.605	0.68069	915	0.20917	.	.	.	.	.	.	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	0.003021	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1697.33	35	chr6	96203322	.	C	A	1697.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=750;ExcessHet=0;FS=0.694;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=-1.044;SOR=0.83	GT:AD:DP:GQ:PL	0/1:57,59:116:99:1711,0,1507	18	0	1	0
chr6	96897762	96897762	G	T	exonic	NDUFAF4	.	nonsynonymous SNV	NDUFAF4:NM_014165:exon1:c.C40A:p.L14I	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	0	1516	6	0	0	6	0.00197498	.	.	.	363734	not_provided|Mitochondrial_complex_1_deficiency,_nuclear_type_15	MedGen:C3661900|MONDO:MONDO:0032620,MedGen:C4748778,OMIM:618237	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.225	.	0.0026	0.00399361	0.0011	0.0100	0.0004	0	0	0.0002	0	0.0003	0.0010737	166	154602	rs145392673	0.0005	0.0005	0.0005	0.0005	0.0123	0.0005	0.0004	0.0113	0.0109	0.0123	0.0008	3.827e-05	2.519e-05	1.872e-05	0.0040	0.0001	0.0012	0.0002	0.0030	0.0030	0.0031	0.0029	0.0100	0.0028	0.0027	0.0092	0.0089	0.0100	0	0.0008	0.0003	0	0	0.0204	0.0002	0.0043	0	0.389	0.10874	T	0.352	0.17372	T	0.464	0.36423	P	0.269	0.39840	B	0.066496	0.21807	N	0.445812	0.999996	0.08975	N	1.66	0.42513	L	-1.69	0.82985	D	0.55	0.02721	N	0.264	0.29889	-0.8218	0.53821	T	0.181	0.52828	T	10	0.009006768	0.00204	T	.	.	.	0.225	0.52323	.	.	0.549755530797	0.54631	0.1266799801355582	0.12593	0.27574349694	0.30050	0.367328107357	0.20447	T	0.181019	0.53255	T	-0.471525	0.00832	T	-0.440695	0.28730	T	0.0158139411097374	0.00369	T	0.567543	0.20130	T	0.048122223	0.08337	0.04957487	0.07604	0.06107211	0.12605	0.04665401	0.06548	-3.039	0.10607	T	0.21626097022916105	0.29088	0.072	0.04396	B	.	.	0.427045	0.07975	4.689	0.74331208204364396	0.10656	0.19196	0.20566	N	ALL	0.138192	0.25941	N	-1.52812575056773	0.01667	0.07291566	-1.69745980284526	0.01148	0.05166493	0.999999999999999	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.65	-6.78	0.01559	-0.870000	0.04336	-0.089000	0.12081	-2.034000	0.00428	0.082000	0.22389	0.185000	0.23452	0.744000	0.35576	0.2381:0.3524:0.326:0.0835	4.185	0.09856	581	0.69614	.	.	.	.	.	.	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	0.009063	0.005051	0.016304	0.011696	0.000000	0.008621	0.003049	0.000000	0.02632	1768.33	33	chr6	96897762	.	G	T	1768.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.092;DP=792;ExcessHet=0;FS=1.947;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-1.957;SOR=0.8	GT:AD:DP:GQ:PL	0/1:92,73:165:99:1782,0,2370	18	0	1	0
chr6	100848335	100848335	T	C	exonic	ASCC3	.	nonsynonymous SNV	ASCC3:NM_001284271:exon4:c.A614G:p.Q205R,ASCC3:NM_006828:exon4:c.A614G:p.Q205R	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00635842603952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	0.15717	T	0.517	0.11621	T	0.0	0.02946	B	0.0	0.01387	B	0.994012	0.07921	N	1.002150	0.998569	0.22071	N	1.79	0.46772	L	0.5	0.57100	T	-0.41	0.27259	N	0.064	0.03613	-1.0125	0.26133	T	0.061	0.25346	T	10	0.09805471	0.17703	T	0.006358	0.16725	T	0.058	0.16647	0.263	0.20788	0.469660041277	0.46594	0.4046439729015787	0.40380	0.264603378519	0.29004	0.28036609292	0.07543	T	0.004527	0.03938	T	-0.193989	0.21674	T	-0.516428	0.20658	T	0.134975671768188	0.15834	T	0.50265	0.15781	T	0.048084572	0.08324	0.065614425	0.13325	0.048084572	0.08323	0.065614425	0.13325	-3.6	0.18656	T	.	.	0.070	0.05935	B	.;.	.;.	1.697192	0.21620	15.28	0.94824989979640262	0.25599	0.49816	0.28520	N	AEFDBI	0.128753	0.24665	N	-0.43122710321271	0.24381	1.316061	-0.31862742903645	0.27497	1.526215	0.013874506607473	0.12522	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.44	4.28	0.50183	1.546000	0.35787	1.151000	0.24481	0.665000	0.62972	0.988000	0.36536	1.000000	0.68203	0.970000	0.54328	0.1772:0.078:0.0:0.7448	6.204	0.19807	664	0.61548	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1822.33	33	chr6	100848335	.	T	C	1822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.24;DP=802;ExcessHet=0;FS=2.64;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-2.105;SOR=0.756	GT:AD:DP:GQ:PL	0/1:96,79:175:99:1836,0,2769	18	0	1	0
chr6	109382218	109382218	G	A	exonic	CD164	.	nonsynonymous SNV	CD164:NM_001142401:exon1:c.C161T:p.T54I,CD164:NM_001142402:exon1:c.C161T:p.T54I,CD164:NM_001142403:exon1:c.C161T:p.T54I,CD164:NM_001142404:exon1:c.C161T:p.T54I,CD164:NM_006016:exon1:c.C161T:p.T54I	.	411	1109	2	0	0	2	0.000900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0971965900825	.	.	3.148e-05	0	0	0	0	6.034e-05	0	0	1.29e-05	2	154602	rs760927519	3.241e-05	3.967e-05	3.492e-05	2.984e-05	4.015e-05	2.484e-05	2.222e-05	3.043e-05	2.71e-05	0	0	0	0	0	0	4.015e-05	3.388e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.57480	D	0.007	0.74150	D	0.999	0.90584	D	0.967	0.78936	D	0.238328	0.15767	N	0.532999	0.999995	0.21670	N	2.24	0.63355	M	0.17	0.60485	T	-2.33	0.68532	N	0.457	0.56231	-0.9007	0.47920	T	0.197	0.55144	T	10	0.68143773	0.71303	D	0.097197	0.76733	D	0.377	0.69527	0.599	0.72984	0.824396746116	0.82273	0.405413277970837	0.40457	0.311578203488	0.33463	0.332114398479	0.15254	T	0.105929	0.41682	T	-0.0154247	0.49502	T	-0.259933	0.48830	T	0.877347648143768	0.52724	D	0.738626	0.35812	T	0.17392807	0.38168	0.30537236	0.56564	0.17392807	0.38167	0.30537236	0.56563	-7.342	0.59671	T	.	.	0.158	0.44643	B	.;.;.;.;.	.;.;.;.;.	4.204870	0.63475	24.6	0.99660364492458386	0.77883	0.86003	0.45206	D	ALL	0.201995	0.32862	N	0.279290737227361	0.55098	3.674334	0.175167365428934	0.48492	3.064257	0.999999999999898	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.04	4.04	0.46262	3.612000	0.53888	7.223000	0.57852	0.588000	0.31329	0.940000	0.32642	1.000000	0.68203	0.155000	0.20479	0.0:0.0:1.0:0.0	11.894	0.51924	563	0.71062	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	731.33	36	chr6	109382218	.	G	A	731.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.343;DP=761;ExcessHet=0;FS=0.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-0.225;SOR=0.544	GT:AD:DP:GQ:PL	0/1:39,31:70:99:745,0,999	18	0	1	0
chr6	109632911	109632911	T	A	exonic	AK9	.	stoploss	AK9:NM_001329602:exon12:c.A1266T:p.X422Y,AK9:NM_145025:exon12:c.A1266T:p.X422Y,AK9:NM_001329603:exon13:c.A1482T:p.X494Y	.	.	.	.	.	.	.	.	.	.	.	918991	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0002	0.0001	0	0.0002	0	0.0002	0.0002458	38	154602	rs79604737	0.0001	0.0003	0.0001	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0.0004	0	0.0001	1.941e-05	0.0004	0.0001	0.0002	0.0002	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0.0002	0	0	0	0	0.0002	0.0011	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.005	0.00034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.69481	0.00039	T	-0.878339	0.00668	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.295102	0.02639	0.333	0.32091818698493435	0.01842	0.00422	0.02082	N	AEFBI	.	.	.	-1.4940321139305	0.01892	0.08300699	-1.72922830197375	0.01014	0.04546294	0.00131195978758189	0.08437	0.074636	0.01641	0	0.084543	0.02171	0	0.078618	0.02440	0	0.101684	0.03063	0	0.0481801	0.07606	1.52	-3.03	0.05100	-1.682000	0.02037	-1.493000	0.05315	-1.827000	0.00594	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1901:0.3131:0.0:0.4968	4.064	0.09333	663	0.61610	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.035247	0.050505	0.043478	0.017544	0.100000	0.051724	0.021341	0.034091	0.02632	1445.33	74	chr6	109632911	.	T	A	1445.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.687;DP=1147;ExcessHet=0;FS=1.104;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=1.53;SOR=0.987	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,40:92:99:0|1:109632904_C_T:1459,0,2043:109632904	18	0	1	0
chr6	117387909	117387909	T	C	exonic	ROS1	.	nonsynonymous SNV	ROS1:NM_002944:exon13:c.A1885G:p.I629V,ROS1:NM_001378891:exon14:c.A1870G:p.I624V,ROS1:NM_001378902:exon14:c.A1870G:p.I624V	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.026851176989	0.0002	.	5.766e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs142877218	5.267e-05	5.267e-05	4.084e-05	6.463e-05	8.944e-05	4.277e-05	3.952e-05	4.612e-05	4.196e-05	0	8.944e-05	0	0	0	0	5.755e-05	9.934e-05	3.478e-05	1.971e-05	1.97e-05	0	4.034e-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	0.16	0.24661	T	0.269	0.22426	T	0.0	0.02946	B	0.001	0.04355	B	0.005025	0.33162	N	0.254221	0.533101	0.31992	D	1.71	0.44315	L	-1.83	0.84122	D	-0.43	0.14390	N	0.073	0.05929	-0.9435	0.42057	T	0.176	0.52084	T	10	0.07884389	0.12613	T	0.026851	0.49721	D	0.077	0.22490	.	.	0.40749426699	0.40369	0.13609339107950397	0.13533	0.0241900907018	0.02455	0.327766269445	0.14597	T	0.085321	0.37476	T	-0.31112	0.07651	T	-0.469344	0.25588	T	0.0711107030510902	0.08806	T	0.533547	0.17787	T	0.030383863	0.02693	0.03534628	0.02770	0.030383863	0.02692	0.03534628	0.02769	-1.855	0.02678	T	0.16586612001138948	0.20589	0.093	0.13923	B	.;.	.;.	2.019064	0.25655	16.84	0.60822810828332774	0.06557	0.86872	0.46250	D	AEFBI	0.213369	0.33895	N	-0.803869632071413	0.13211	0.6492344	-0.698932150416118	0.16987	0.9012191	0.0158572939843655	0.12762	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.24	0.064	0.13663	0.903000	0.28101	-0.325000	0.09934	-0.728000	0.03745	1.000000	0.71638	0.225000	0.23742	0.027000	0.12703	0.0:0.2427:0.1459:0.6114	5.097	0.14072	699	0.57969	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2056.33	37	chr6	117387909	.	T	C	2056.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.71;DP=825;ExcessHet=0;FS=1.326;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-0.358;SOR=0.815	GT:AD:DP:GQ:PL	0/1:58,85:143:99:2070,0,1434	18	0	1	0
chr6	143942395	143942395	C	A	exonic	PLAGL1	.	nonsynonymous SNV	PLAGL1:NM_001317157:exon3:c.G421T:p.A141S,PLAGL1:NM_001317158:exon3:c.G265T:p.A89S,PLAGL1:NM_001289038:exon4:c.G265T:p.A89S,PLAGL1:NM_001289047:exon4:c.G421T:p.A141S,PLAGL1:NM_001317156:exon4:c.G421T:p.A141S,PLAGL1:NM_001289037:exon5:c.G265T:p.A89S,PLAGL1:NM_001289039:exon5:c.G265T:p.A89S,PLAGL1:NM_001289042:exon5:c.G421T:p.A141S,PLAGL1:NM_001080955:exon6:c.G265T:p.A89S,PLAGL1:NM_001080956:exon6:c.G265T:p.A89S,PLAGL1:NM_001289040:exon6:c.G265T:p.A89S,PLAGL1:NM_001289041:exon6:c.G265T:p.A89S,PLAGL1:NM_001289044:exon6:c.G421T:p.A141S,PLAGL1:NM_001289049:exon6:c.G421T:p.A141S,PLAGL1:NM_001317160:exon6:c.G265T:p.A89S,PLAGL1:NM_001080952:exon7:c.G421T:p.A141S,PLAGL1:NM_001080953:exon7:c.G421T:p.A141S,PLAGL1:NM_001080954:exon7:c.G421T:p.A141S,PLAGL1:NM_001289043:exon7:c.G421T:p.A141S,PLAGL1:NM_001289045:exon7:c.G421T:p.A141S,PLAGL1:NM_001289048:exon7:c.G421T:p.A141S,PLAGL1:NM_001317161:exon7:c.G421T:p.A141S,PLAGL1:NM_006718:exon7:c.G421T:p.A141S,PLAGL1:NM_001080951:exon8:c.G421T:p.A141S,PLAGL1:NM_001317159:exon8:c.G421T:p.A141S,PLAGL1:NM_001317162:exon8:c.G421T:p.A141S,PLAGL1:NM_001289046:exon9:c.G421T:p.A141S	.	417	1097	8	0	0	8	0.00363306	.	.	.	710232	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.023	.	7.7e-05	0.00998403	0.0046	0.0002	0.0039	0.0336	0.0002	0.0001	0.0011	0.0127	0.0042237	653	154602	rs17847327	0.0018	0.0018	0.0016	0.0021	0.0296	0.0018	0.0017	0.0282	0.0276	5.974e-05	0.0040	0.0002	0.0296	0	0.0009	2.878e-05	0.0028	0.0126	0.0019	0.0019	0.0015	0.0024	0.0328	0.0017	0.0016	0.0287	0.0272	7.222e-05	0	0.0026	0	0.0328	0	0	1.47e-05	0.0028	0.0145	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	0.212798	0.16324	N	0.606267	1	0.08975	N	-0.145	0.04423	N	2.99	0.09262	T	-0.28	0.11547	N	0.031	0.00770	-0.9617	0.38858	T	0.002	0.00676	T	10	0.0027655065	0.00043	T	.	.	.	0.023	0.04649	.	.	0.165150595986	0.16160	0.16814240285216853	0.16734	0.322862320252	0.34462	0.39057919383	0.23751	T	0.096559	0.39850	T	-0.736657	0.00022	T	-0.80307	0.01826	T	0.00487929766389295	0.00052	T	0.750125	0.38363	T	0.021035649	0.00686	0.032434568	0.01978	0.021035649	0.00685	0.032434568	0.01978	-1.853	0.02672	T	.	.	0.113	0.22391	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.014078	0.04381	1.131	0.71831194620010763	0.09763	0.19353	0.20627	N	ALL	0.165891	0.29243	N	-1.42174047965092	0.02448	0.1081321	-1.27659705703184	0.04748	0.2247122	0.999999999999874	0.74766	0.712529	0.81865	0	0.779548	0.99637	0	0.505578	0.09266	0	0.691587	0.68394	0	.	.	6.17	-2.91	0.05294	0.647000	0.24500	-0.081000	0.12176	-0.820000	0.02968	0.965000	0.33920	0.000000	0.08366	0.933000	0.47100	0.4347:0.3529:0.0:0.2124	6.596	0.21864	875	0.30485	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|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|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;.;Zinc finger C2H2-type|Zinc finger C2H2-type|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	1	0	0.003525	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.018939	0.02632	1387.33	42	chr6	143942395	.	C	A	1387.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.313;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.211;SOR=0.737	GT:AD:DP:GQ:PL	0/1:52,51:103:99:1401,0,1503	18	0	1	0
chr6	149853077	149853077	C	T	exonic	LRP11	.	nonsynonymous SNV	LRP11:NM_032832:exon2:c.G697A:p.E233K	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0150557161445	7.7e-05	.	4.124e-05	0	0	0	0	4.503e-05	0	0.0001	3.23e-05	5	154602	rs11278	1.507e-05	1.505e-05	2.726e-06	2.753e-05	0.0002	9.86e-06	8.42e-06	0.0001	9.47e-05	3e-05	0	0	2.532e-05	0	0	3.6e-06	0	0.0002	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.142	0.25457	T	0.311	0.23845	T	0.933	0.52105	P	0.187	0.37572	B	0.001547	0.38671	N	0.311029	0.891038	0.81001	D	1.725	0.44537	L	3.66	0.09635	T	-2.82	0.61580	D	0.511	0.54234	-0.8810	0.49681	T	0.008	0.02884	T	10	0.33903348	0.50997	T	0.015056	0.35570	T	0.153	0.40148	.	.	0.458554320643	0.45480	0.411404270116858	0.41056	0.49164195058	0.47847	0.504627108574	0.39473	T	0.066278	0.32904	T	-0.303028	0.08377	T	-0.469455	0.25574	T	0.90947812795639	0.56439	D	0.938506	0.76886	D	0.23159006	0.45933	0.1935273	0.42927	0.23159006	0.45933	0.1935273	0.42926	-10.342	0.75934	D	.	.	0.168	0.47005	B	.;.	.;.	3.924798	0.57328	23.8	0.99811494419340019	0.89531	0.87219	0.46693	D	AEFBHCI	0.670236	0.63739	D	0.0903716326070991	0.46014	2.848476	0.125327165765524	0.45847	2.840821	0.999999014865989	0.74766	0.675385	0.55134	0	0.596491	0.49125	0	0.693117	0.63056	0	0.56214	0.19341	0	.	.	5.54	3.77	0.42499	7.413000	0.79318	0.997000	0.23233	0.597000	0.34315	1.000000	0.71638	0.456000	0.24978	0.922000	0.45779	0.0:0.8341:0.0:0.1659	9.514	0.38260	440	0.80101	PKD domain|PKD/Chitinase domain;PKD domain|PKD/Chitinase 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	.	.	.	.	.	.	.	.	0.05263	1537.83	34	chr6	149853077	.	C	T	1537.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.23;DP=762;ExcessHet=0.119;FS=1.3;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=1.04;SOR=0.822	GT:AD:DP:GQ:PL	0/1:45,34:79:99:893,0,1122	17	0	2	0
chr6	149863465	149863465	G	A	exonic	LRP11	.	nonsynonymous SNV	LRP11:NM_032832:exon1:c.C556T:p.L186F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	.	0.00119808	0.0157	0	0.1667	0	0	0.0241	0	0.0283	0.0004786	74	154602	rs143869691	0.0057	0.0050	0.0059	0.0056	0.0064	0.0056	0.0056	0.0063	0.0062	0.0009	0.0013	0.0022	7.397e-05	0.0029	0.0006	0.0064	0.0040	0.0029	0.0031	0.0031	0.0032	0.0030	0.0053	0.0028	0.0027	0.0048	0.0047	0.0009	0	0.0017	0.0023	0	0.0020	0	0.0053	0.0019	0.0021	0.03	0.45393	D	0.151	0.46182	T	0.091	0.37004	B	0.075	0.30390	B	0.000019	0.62929	D	0.070513	0.990175	0.81001	D	1.085	0.27262	L	3.46	0.11947	T	-1.45	0.36980	N	0.127	0.39356	-1.0543	0.13225	T	0.015	0.05994	T	10	0.002847761	0.00045	T	.	.	.	0.095	0.27398	.	.	0.3571064206	0.35317	0.4751080978006749	0.47429	1.9630343887	0.93482	0.772154569626	0.77748	T	0.012022	0.21588	T	-0.61971	0.00110	T	-0.661581	0.08160	T	0.0907386106397608	0.11306	T	0.671133	0.27986	T	0.30156794	0.53046	0.26510108	0.52339	0.30156794	0.53046	0.26510108	0.52338	-8.63	0.65287	D	.	.	0.117	0.27880	B	.;.	.;.	3.294649	0.45196	22.1	0.99232540201256492	0.56278	0.52693	0.29192	D	ALL	0.281361	0.39496	N	-0.0287260554408376	0.40557	2.410616	0.0563761615591603	0.42381	2.562419	0.999999999999949	0.74766	0.495885	0.18260	0	0.491552	0.07993	0	0.47417	0.07244	0	0.003489	0.00041	3	.	.	4.8	2.98	0.33575	2.505000	0.45084	6.007000	0.52582	0.635000	0.51984	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.1759:0.0:0.8241:0.0	9.789	0.39860	418	0.81602	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	628.33	31	chr6	149863465	.	G	A	628.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.37;DP=673;ExcessHet=0;FS=2.654;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-1.445;SOR=0.322	GT:AD:DP:GQ:PL	0/1:26,21:47:99:642,0,699	18	0	1	0
chr6	152098916	152098916	C	T	exonic	ESR1	.	stopgain	ESR1:NM_000125:exon8:c.C1738T:p.Q580X,ESR1:NM_001122740:exon9:c.C1738T:p.Q580X,ESR1:NM_001122741:exon9:c.C1738T:p.Q580X,ESR1:NM_001291230:exon9:c.C1744T:p.Q582X,ESR1:NM_001291241:exon9:c.C1735T:p.Q579X,ESR1:NM_001385569:exon9:c.C1738T:p.Q580X,ESR1:NM_001122742:exon10:c.C1738T:p.Q580X,ESR1:NM_001385568:exon10:c.C1738T:p.Q580X	Estrogen resistance, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	1.361e-06	5.5e-06	0.0002	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031854	0.25111	N	0.395551	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.755	0.83473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.567668	0.96476	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Dominant;Dominant;Dominant;Dominant;.	High;High;High;High;.	9.566973	0.99080	42	0.99705007922783739	0.80936	0.92247	0.55274	D	AEFDBHCI	0.058628	0.11012	N	1.08957487492215	0.97936	17.06782	0.943874420378452	0.97215	15.76794	0.999999999999994	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.56	5.56	0.83678	4.079000	0.57335	5.872000	0.50545	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.538	0.95253	922	0.19044	Oestrogen-type nuclear receptor final C-terminal domain;Oestrogen-type nuclear receptor final C-terminal domain;Oestrogen-type nuclear receptor final C-terminal domain;Oestrogen-type nuclear receptor final C-terminal domain;Oestrogen-type nuclear receptor final C-terminal domain	.	.	.	.	.	Uncertain significance	1	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	.	.	.	.	.	.	.	.	0.05263	2119.83	34	chr6	152098916	.	C	T	2119.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.897;DP=762;ExcessHet=0.119;FS=10.124;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-0.247;SOR=1.424	GT:AD:DP:GQ:PL	0/1:44,43:87:99:1179,0,1191	17	0	2	0
chr6	152447543	152447543	G	T	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon29:c.C3605A:p.S1202Y,SYNE1:NM_182961:exon29:c.C3584A:p.S1195Y	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2820820	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.0145180467099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.72154	D	0.004	0.74150	D	0.996	0.90584	D	0.935	0.75477	D	0.000536	0.43581	D	0.103731	0.976404	0.39273	D	2.785	0.81254	M	1.27	0.36146	T	-2.1	0.69835	N	0.379	0.69387	-0.9535	0.40363	T	0.157	0.48993	T	10	0.28871864	0.46454	T	0.014518	0.34691	T	0.135	0.36572	0.404	0.43573	0.510642626009	0.50703	0.4845953077183095	0.48379	0.622627609196	0.56521	0.453581809998	0.32433	T	0.559201	0.85214	D	-0.0250806	0.48126	T	-0.273803	0.47434	T	0.950298607349396	0.63304	D	0.959604	0.84807	D	0.17474511	0.38295	0.2930341	0.55331	0.17474511	0.38295	0.2930341	0.55331	-5.062	0.37505	T	.	.	0.446	0.62616	A	.;.;.;.;.;.	.;.;.;.;.;.	4.201601	0.63402	24.6	0.99533046288519389	0.70025	0.92989	0.57045	D	AEFI	0.808182	0.73202	D	0.73503580020398	0.81929	7.638508	0.734673856840145	0.85008	8.454121	0.0323826810211463	0.14052	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.9	5.9	0.94952	4.385000	0.59379	11.712000	0.94670	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.151:0.849:0.0	15.104	0.71982	689	0.59000	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	5123.33	33	chr6	152447543	.	G	T	5123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.15;DP=1115;ExcessHet=0;FS=1.103;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.435;SOR=0.609	GT:AD:DP:GQ:PL	0/1:260,206:466:99:5137,0,6703	18	0	1	0
chr6	152975337	152975337	T	C	exonic	FBXO5	.	nonsynonymous SNV	FBXO5:NM_001142522:exon2:c.A250G:p.T84A,FBXO5:NM_012177:exon2:c.A388G:p.T130A	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	0.0072	0.00479233	0.0065	0.0020	0.0059	0	0.0045	0.0097	0.0110	0.0012	0.0067981	1051	154602	rs41302051	0.0089	0.0089	0.0090	0.0088	0.0107	0.0087	0.0087	0.0105	0.0104	0.0015	0.0059	0.0008	2.519e-05	0.0039	0.0019	0.0107	0.0080	0.0009	0.0067	0.0067	0.0073	0.0061	0.0112	0.0064	0.0062	0.0106	0.0103	0.0018	0	0.0079	0.0003	0	0.0030	0.0068	0.0112	0.0099	0.0008	0.816	0.02989	T	0.553	0.09621	T	0.006	0.13644	B	0.002	0.06944	B	0.528163	0.05242	N	1.259990	1	0.08975	N	0.69	0.16971	N	0.8	0.48769	T	0.06	0.06488	N	0.035	0.01004	-1.0493	0.14593	T	0.015	0.05849	T	10	0.003291428	0.00056	T	.	.	.	0.044	0.11924	.	.	0.365710854667	0.36188	0.08245482625595346	0.08180	0.310367289707	0.33356	0.275877535343	0.06923	T	0.014657	0.12435	T	-0.609412	0.00128	T	-0.637766	0.09832	T	0.00492157166012147	0.00053	T	0.435056	0.11905	T	0.04742848	0.08104	0.02651377	0.00745	0.04742848	0.08104	0.02651377	0.00745	-3.608	0.18161	T	.	.	0.060	0.01042	B	.;.	.;.	-0.268415	0.02760	0.371	0.42610954850824195	0.03153	0.10717	0.16143	N	AEFDGBHCI	0.022887	0.01203	N	-1.21231290337923	0.04819	0.2183657	-1.15751814054881	0.06634	0.3199739	0.999999999164136	0.74766	0.722319	0.85440	0	0.662677	0.63036	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.79	0.442	0.15794	-0.549000	0.06131	0.490000	0.18893	0.580000	0.29708	0.000000	0.06391	0.003000	0.18671	0.278000	0.23967	0.4411:0.1926:0.1484:0.2179	0.733	0.00899	710	0.56735	.;.	MYCT1	Brain_Amygdala	.	.	.	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	0.004028	0.015152	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2002.33	33	chr6	152975337	.	T	C	2002.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.73;DP=878;ExcessHet=0;FS=0.605;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.58;SOR=0.752	GT:AD:DP:GQ:PL	0/1:82,70:152:99:2016,0,2220	18	0	1	0
chr6	156778970	156778970	-	GCA	exonic	ARID1B	.	nonframeshift insertion	ARID1B:NM_001374820:exon1:c.1290_1291insGCA:p.A433_G434insA,ARID1B:NM_001374828:exon1:c.1290_1291insGCA:p.A433_G434insA,ARID1B:NM_017519:exon1:c.1290_1291insGCA:p.A433_G434insA,ARID1B:NM_001371656:exon2:c.1290_1291insGCA:p.A433_G434insA	Coffin-Siris syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	207355	ARID1B-related_disorder|Inborn_genetic_diseases|not_provided|not_specified	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1057520094	0.0011	0.0009	0.0011	0.0011	0.0038	0.0011	0.0011	0.0022	0.0017	0.0001	0.0001	0	7.461e-05	0.0003	0.0038	0.0013	0.0009	0.0002	0.0006	0.0006	0.0007	0.0005	0.0010	0.0005	0.0004	0.0008	0.0007	0.0003	0	0	0	0.0002	0.0001	0.0037	0.0010	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	440.29	24	chr6	156778970	.	G	GGCA	440.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=613;ExcessHet=0;FS=1.484;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=-1.383;SOR=0.368	GT:AD:DP:GQ:PL	0/1:17,13:30:99:454,0,675	18	0	1	0
chr6	160102598	160102598	G	A	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon46:c.G6922A:p.A2308T	Hepatocellular carcinoma, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0116660235017	0.0008	0.000599042	0.0003	0.0029	9.306e-05	0.0004	0	0	0	0	0.0002458	38	154602	rs73598446	7.117e-05	7.182e-05	8.85e-05	5.365e-05	0.0019	5.982e-05	5.59e-05	0.0015	0.0014	0.0019	0.0002	0	0.0003	0	0	9.893e-06	0.0002	1.16e-05	0.0007	0.0007	0.0006	0.0008	0.0023	0.0006	0.0005	0.0019	0.0018	0.0023	0	0.0002	0	0.0008	0	0	1.47e-05	0.0005	0	0.174	0.22486	T	0.143	0.33219	T	0.005	0.12996	B	0.004	0.10090	B	0.011801	0.29393	N	0.349790	0.866683	0.35486	D	.	.	.	3.0	0.09167	T	-1.02	0.26843	N	0.227	0.25499	-1.1010	0.03973	T	0.016	0.06664	T	10	0.007900536	0.00179	T	0.011666	0.29526	T	0.044	0.11924	.	.	0.29893580763	0.29502	0.47053593533540855	0.46972	0.38746042352	0.40026	0.36617320776	0.20281	T	0.168851	0.51601	T	-0.546459	0.00306	T	-0.563275	0.16071	T	0.0115026105574843	0.00173	T	0.760024	0.38453	T	0.026447412	0.01702	0.045356378	0.06084	0.026447412	0.01702	0.045356378	0.06084	-4.466	0.30441	T	.	.	0.134	0.29060	B	.;.	.;.	2.688496	0.35092	19.80	0.97750835134528391	0.35745	0.80260	0.39945	D	AEFBCI	0.247712	0.36824	N	-0.527470527710987	0.21196	1.123075	-0.517550136456287	0.21677	1.173759	0.943231773413331	0.27559	0.732398	0.92422	0	0.702456	0.74545	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.43	2.65	0.30588	2.383000	0.44008	5.106000	0.47475	-0.106000	0.15538	0.984000	0.35821	1.000000	0.68203	0.414000	0.27095	0.1369:0.0:0.733:0.1301	8.011	0.29516	587	0.69154	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	214.33	33	chr6	160102598	.	G	A	214.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.412;DP=736;ExcessHet=0;FS=78.359;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.95;ReadPosRankSum=-0.136;SOR=6.357	GT:AD:DP:GQ:PL	0/1:87,23:110:99:228,0,1972	18	0	1	0
chr6	169769580	169769580	G	A	exonic	ERMARD	.	nonsynonymous SNV	ERMARD:NM_001278532:exon11:c.G722A:p.R241H,ERMARD:NM_001278531:exon12:c.G1100A:p.R367H,ERMARD:NM_001278533:exon12:c.G1100A:p.R367H,ERMARD:NM_018341:exon12:c.G1100A:p.R367H	.	.	.	.	.	.	.	.	.	.	.	1320898	not_provided|See_cases	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.459	0.0298204175263	7.7e-05	.	3.415e-05	9.984e-05	0	0.0002	0	0	0.0011	0	2.59e-05	4	154602	rs367621676	2.399e-05	3.01e-05	2.454e-05	2.342e-05	0.0005	1.742e-05	1.541e-05	0.0003	0.0003	0.0005	6.777e-05	0	7.569e-05	0	0	3.601e-06	6.633e-05	3.511e-05	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0004	0.0004	0.0006	0	0	0	0.0010	0	0	0	0	0.0002	0.003	0.68238	D	0.007	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.000008	0.62929	D	0.000000	0.967353	0.38589	D	2.93	0.84523	M	-0.36	0.69158	T	-4.43	0.77554	D	0.817	0.84298	0.095	0.84086	D	0.496	0.80893	T	10	0.72918415	0.74180	D	0.02982	0.52254	D	0.459	0.75687	.	.	0.694078074994	0.69144	0.530233287107643	0.52947	0.272102789612	0.29719	.	.	.	0.336027	0.70558	T	0.115178	0.65885	D	0.227993	0.84569	D	0.721562325954437	0.41778	D	0.965203	0.87125	D	0.47293085	0.65471	0.27876925	0.53840	0.47293085	0.65471	0.27876925	0.53839	-11.751	0.84113	D	0.9300712053086226	0.97133	0.491	0.72524	A	.;.;.;.;.	.;.;.;.;.	4.841730	0.79050	27.0	0.99937176454051901	0.99661	0.94286	0.60684	D	AEFBI	0.548839	0.56196	D	0.774330052135983	0.84476	8.298731	0.701881672811857	0.82520	7.787737	0.999994892620418	0.74766	0.651	0.46895	0	0.633656	0.55848	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.34	5.34	0.75982	6.489000	0.73548	11.465000	0.92840	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.865000	0.41091	0.0:0.0:1.0:0.0	18.705	0.91597	929	0.16858	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1323.33	33	chr6	169769580	.	G	A	1323.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.697;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=-0.38;SOR=0.627	GT:AD:DP:GQ:PL	0/1:33,51:84:99:1337,0,698	18	0	1	0
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8158	949.0	153	chr6	170561952	.	A	*	949.0	.	AC=31;AF=0.816;AN=38;DP=3440;ExcessHet=2.0135;FS=1.339;InbreedingCoeff=-0.1874;MLEAC=31;MLEAF=0.816;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=3.29;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,72:72:99:1|1:170561949_GCAA_G:3070,224,0:170561949	0	12	7	0
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	9626.11	127	chr6	170561964	.	G	*	9626.11	.	AC=19;AF=0.528;AN=36;BaseQRankSum=-1.99;DP=3235;ExcessHet=0.2833;FS=3.053;InbreedingCoeff=0.0877;MLEAC=20;MLEAF=0.556;MQ=59.95;MQRankSum=0;QD=5.61;ReadPosRankSum=2.3;SOR=0.516	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,125:125:99:1|1:170561949_GCAA_G:5404,381,0:170561949	5	6	7	1
chr6	170561967	170561967	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	46	879	60	4	533	601	0.0372399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	2380.05	128	chr6	170561967	.	G	*	2380.05	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.939;DP=2816;ExcessHet=1.9883;FS=1.746;InbreedingCoeff=-0.0556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=2.34;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,35:72:99:.:.:2603,172,0:.	6	5	8	0
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4444	1206.95	21	chr7	290725	.	C	G	1206.95	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.395;DP=627;ExcessHet=25.4433;FS=271.165;InbreedingCoeff=-0.7777;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=2.5;ReadPosRankSum=1.14;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,15:41:97:.:.:97,0,384:.	2	0	16	1
chr7	1434651	1434651	T	G	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon17:c.A2660C:p.K887T	.	427	1051	44	0	0	44	0.0205033	.	.	.	710839	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.072	.	0.0038	0.00559105	0.0075	0.0004	0.0084	0	0	0.0071	0.0165	0.0227	0.0064747	1001	154602	rs138745697	0.0044	0.0045	0.0039	0.0049	0.0215	0.0043	0.0042	0.0183	0.0172	0.0009	0.0044	0.0545	2.55e-05	0.0002	0.0215	0.0026	0.0072	0.0163	0.0038	0.0038	0.0037	0.0039	0.0168	0.0035	0.0034	0.0138	0.0127	0.0005	0.0022	0.0026	0.0527	0	9.411e-05	0.0034	0.0034	0.0057	0.0168	0.004	0.65419	D	0.032	0.53426	D	0.969	0.56768	D	0.483	0.47159	P	0.350276	0.13826	N	0.544804	0.767714	0.34114	D	1.795	0.47270	L	-0.99	0.75911	T	-3.09	0.63438	D	0.329	0.36989	-0.6582	0.62355	T	0.182	0.52934	T	10	0.0042794943	0.00086	T	.	.	.	0.072	0.21020	.	.	0.813371712031	0.81161	0.498556905756521	0.49776	0.0563641266725	0.06225	0.314815610647	0.12636	T	0.031948	0.22272	T	-0.361974	0.04019	T	-0.279102	0.46896	T	0.0432402127885874	0.04282	T	0.793221	0.43505	T	0.1289492	0.30132	0.13869622	0.33115	0.11091681	0.26213	0.13869622	0.33115	-11.399	0.81801	D	.	.	0.216	0.44514	B	.	.	2.476055	0.31918	18.89	0.99679674905047677	0.79174	0.72201	0.35348	D	AEFBCI	0.245405	0.36634	N	-0.148444094394642	0.35299	2.025895	-0.212759033387074	0.31076	1.755432	0.106967155977715	0.16543	0.718356	0.82227	0	0.588015	0.36545	0	0.570548	0.19454	0	0.553173	0.17726	1	.	.	2.97	0.525	0.16266	-0.513000	0.06389	0.069000	0.14235	0.663000	0.56723	0.005000	0.17040	0.973000	0.29867	0.992000	0.67800	0.0:0.1971:0.0:0.8029	6.177	0.19662	946	0.12043	.	.	.	.	.	.	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	1	0	0.013092	0.010101	0.010870	0.020468	0.000000	0.025862	0.012195	0.007576	0.07895	5149.79	35	chr7	1434651	.	T	G	5149.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.249;DP=1028;ExcessHet=0.3672;FS=0.526;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-1.364;SOR=0.764	GT:AD:DP:GQ:PL	0/1:88,81:169:99:1942,0,2154	16	0	3	0
chr7	2814361	2814361	C	T	exonic	GNA12	.	nonsynonymous SNV	GNA12:NM_001282441:exon2:c.G83A:p.R28Q	.	431	1056	34	1	0	36	0.0167598	.	.	.	2828235	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.169	.	0.0059	0.00239617	0.0064	0.0016	0.0032	0	0.0015	0.0097	0.0162	0.0030	0.0064423	996	154602	rs151253462	0.0079	0.0080	0.0080	0.0078	0.0254	0.0078	0.0078	0.0221	0.0208	0.0019	0.0042	0.0103	7.562e-05	0.0009	0.0254	0.0091	0.0083	0.0031	0.0059	0.0059	0.0061	0.0058	0.0096	0.0056	0.0055	0.0090	0.0087	0.0016	0	0.0062	0.0092	0.0002	0.0010	0.0442	0.0096	0.0090	0.0037	0.008	0.58626	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.19781	N	.	.	.	-2.08	0.86010	D	1.22	0.01051	N	0.123	0.11483	-0.5180	0.67989	T	0.367	0.72712	T	8	0.004283428	0.00086	T	.	.	.	0.169	0.43123	.	.	0.472011534587	0.46827	.	.	.	.	.	.	.	.	.	.	-0.500656	0.00567	T	-0.47961	0.24487	T	0.00296320149154326	0.00031	T	0.350365	0.07800	T	.	.	.	.	.	.	.	.	-4.401	0.29571	T	.	.	0.104	0.18746	B	.	.	0.980151	0.13573	10.10	0.99304735825804491	0.58759	0.01677	0.05358	N	AEFDBIJ	0.025508	0.01757	N	-0.793627732173815	0.13475	0.6640948	-0.892724837559142	0.12265	0.6299404	0.999991911856854	0.74766	0.475973	0.10046	0	0.601575	0.49859	0	0.527494	0.11647	0	0.714379	0.83352	0	.	.	2.12	2.12	0.26372	-0.109000	0.10810	-0.377000	0.09567	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:1.0:0.0:0.0	7.776	0.28201	929	0.16858	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	700.33	33	chr7	2814361	.	C	T	700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=684;ExcessHet=0;FS=4.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=-0.46;SOR=1.334	GT:AD:DP:GQ:PL	0/1:45,27:72:99:714,0,1144	18	0	1	0
chr7	4787700	4787700	G	A	exonic	AP5Z1	.	nonsynonymous SNV	AP5Z1:NM_001364858:exon10:c.G910A:p.A304T,AP5Z1:NM_014855:exon11:c.G1378A:p.A460T	Spastic paraplegia 48, autosomal recessive, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	636187	Retinal_dystrophy|Hereditary_spastic_paraplegia_48	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|MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.0240474937202	8e-05	.	0.0004	0	0	0	0	0	0	0.0011	7.12e-05	11	154602	rs371881628	6.86e-05	7.456e-05	4.234e-05	9.553e-05	0.0008	5.74e-05	5.335e-05	0.0007	0.0006	3.148e-05	2.764e-05	3.967e-05	2.778e-05	2.158e-05	0.0004	1.665e-05	0.0001	0.0008	3.287e-05	3.283e-05	2.571e-05	4.038e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.882e-05	0	0.0002	0.567	0.06243	T	0.066	0.44501	T	0.018	0.17786	B	0.015	0.17295	B	0.012942	0.29001	N	0.349470	0.999934	0.19363	N	2.205	0.62170	M	-0.23	0.66652	T	-1.22	0.30964	N	0.156	0.16168	-0.9060	0.47332	T	0.221	0.58421	T	10	0.018387556	0.00400	T	0.024047	0.47032	T	0.088	0.25558	.	.	0.0138822411134	0.00435	0.30292103195835707	0.30205	.	.	0.332862943411	0.15366	T	0.028976	0.20865	T	-0.516609	0.00460	T	-0.576843	0.14828	T	0.0412508559938513	0.03918	T	0.732927	0.34859	T	0.015107531	0.00122	0.031636685	0.01780	0.015107531	0.00122	0.031636685	0.01780	-5.751	0.44145	T	0.3063594133485708	0.40402	0.074	0.05274	B	.;.	.;.	0.140981	0.05347	1.834	0.92326604523907618	0.21722	0.30012	0.23972	N	AEFDGBCI	0.126013	0.24277	N	-1.17371638257916	0.05400	0.2460866	-1.22933193691014	0.05444	0.2594115	0.014761543703223	0.12635	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.73	1.87	0.24559	0.113000	0.15333	-0.734000	0.07648	-0.851000	0.02709	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.079:0.1398:0.4928:0.2883	4.01	0.09106	895	0.25842	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	971.83	33	chr7	4787700	.	G	A	971.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.275;DP=651;ExcessHet=0.119;FS=10.943;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=2.26;SOR=0.796	GT:AD:DP:GQ:PL	0/1:22,19:41:99:529,0,595	17	0	2	0
chr7	6763947	6763947	T	A	exonic	RSPH10B;RSPH10B2	.	nonsynonymous SNV	RSPH10B2:NM_001099697:exon6:c.T419A:p.V140D,RSPH10B:NM_173565:exon6:c.T419A:p.V140D	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0148804231871	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331379936	1.379e-06	2.057e-06	1.372e-06	1.386e-06	1.814e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.814e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.10311	T	0.054	0.47097	T	0.695	0.41722	P	0.223	0.37929	B	0.342443	0.13941	N	0.666605	1	0.81001	D	1.255	0.31814	L	0.51	0.55439	T	-2.28	0.50830	N	0.314	0.38950	-0.9842	0.34022	T	0.128	0.43585	T	10	0.22885117	0.39799	T	0.01488	0.35280	T	0.128	0.35103	0.614	0.74768	0.490074841992	0.48640	0.4847905534449303	0.48399	.	.	0.541220664978	0.44618	T	0.012946	0.11287	T	-0.135321	0.30639	T	-0.432155	0.29690	T	0.207142606377602	0.20803	T	0.466753	0.13720	T	0.15721653	0.35438	0.21708432	0.46360	0.15721653	0.35437	0.21708432	0.46359	-11.005	0.79686	D	.	.	0.576	0.67865	P	.;.;.	.;.;.	1.969401	0.25016	16.61	0.91372449066111516	0.20637	0.32347	0.24563	N	AEFGI	0.297208	0.40685	N	-0.330221732508259	0.28004	1.541142	-0.411638638418449	0.24655	1.351368	0.0284723936198051	0.13834	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.61	3.61	0.40494	3.220000	0.50909	.	.	-0.662000	0.04349	0.169000	0.23921	0.001000	0.17328	0.130000	0.19568	0.0:0.0:0.0:1.0	10.367	0.43213	889	0.27310	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	2276.83	34	chr7	6763947	.	T	A	2276.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.495;DP=1079;ExcessHet=0.119;FS=1.245;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=35.97;MQRankSum=0.284;QD=4.85;ReadPosRankSum=2.28;SOR=0.642	GT:AD:DP:GQ:PL	0/1:225,64:289:99:884,0,5519	17	0	2	0
chr7	12380643	12380643	G	C	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001135924:exon5:c.C632G:p.S211C,VWDE:NM_001346972:exon5:c.C632G:p.S211C,VWDE:NM_001346973:exon5:c.C167G:p.S56C	.	439	1041	40	2	0	44	0.0206961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.003589	0.000000	0.000000	0.013043	0.000000	0.000000	0.005618	0.012195	0.07895	4882.79	43	chr7	12380643	.	G	C	4882.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.55;DP=1015;ExcessHet=0.3672;FS=2.947;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.103;SOR=0.872	GT:AD:DP:GQ:PL	0/1:58,74:132:99:2050,0,1506	16	0	3	0
chr7	12640459	12640459	C	T	exonic	SCIN	.	nonsynonymous SNV	SCIN:NM_033128:exon9:c.C782T:p.P261L,SCIN:NM_001112706:exon11:c.C1523T:p.P508L	.	.	.	.	.	.	.	.	.	.	.	3317296	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.099	0.0140684063539	.	0.000798722	0.0001	0.0001	8.927e-05	0	0	1.533e-05	0	0.0008	0.0001294	20	154602	rs191632569	5.75e-05	5.814e-05	3.405e-05	8.118e-05	0.0007	4.746e-05	4.369e-05	0.0006	0.0005	0	0.0002	0	0	0	0	3.599e-06	0.0001	0.0007	0.0001	0.0001	0.0001	0.0001	0.0010	8.173e-05	6.728e-05	0.0006	0.0005	0	0	0.0010	0	0	0	0	0	0	0.0008	0.088	0.36310	T	0.008	0.67890	D	0.001	0.07471	B	0.004	0.10090	B	0.001794	0.37998	N	0.173058	0.999983	0.18198	N	2.39	0.68882	M	0.96	0.42888	T	-4.05	0.74504	D	0.378	0.44666	-1.0231	0.22704	T	0.082	0.32148	T	10	0.020688802	0.00481	T	0.014068	0.33936	T	0.099	0.28413	.	.	0.304108284078	0.30024	0.41938721485592756	0.41854	0.00660640993774	0.00580	0.306091308594	0.11316	T	0.08592	0.37610	T	-0.449748	0.01133	T	-0.526324	0.19657	T	0.0628724261555497	0.07613	T	0.854615	0.55333	D	0.13093469	0.30536	0.15020396	0.35434	0.13093469	0.30536	0.15020396	0.35433	-10.266	0.75489	D	.	.	0.075	0.11124	B	.;.	.;.	3.200227	0.43516	21.7	0.91625284323860001	0.20910	0.24013	0.22260	N	ALL	0.198363	0.32523	N	-0.529722731927985	0.21124	1.118743	-0.422529508335363	0.24337	1.332168	0.999999996366193	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.66	3.78	0.42629	3.094000	0.49919	4.918000	0.46015	-0.187000	0.09635	0.050000	0.21411	0.592000	0.25676	0.996000	0.76049	0.0:0.7684:0.1503:0.0813	8.737	0.33695	898	0.25240	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	956.33	34	chr7	12640459	.	C	T	956.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.062;DP=698;ExcessHet=0;FS=0.845;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-1.397;SOR=0.62	GT:AD:DP:GQ:PL	0/1:41,39:80:99:970,0,1097	18	0	1	0
chr7	21894960	21894960	G	A	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon79:c.G13010A:p.S4337N	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	833491	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.025	0.00627586833149	.	.	3.314e-05	0.0004	0	0	0	0	0	0	3.23e-05	5	154602	rs759646661	2.805e-05	2.805e-05	3.676e-05	1.925e-05	0.0007	2.087e-05	1.878e-05	0.0005	0.0004	0.0007	4.472e-05	0	0	0	0.0002	8.994e-07	0.0002	1.159e-05	0.0002	0.0002	0.0003	0.0001	0.0007	0.0001	0.0001	0.0005	0.0005	0.0007	0	6.536e-05	0	0	0	0	0	0	0	0.17	0.22833	T	.	.	.	.	.	.	.	.	.	0.015892	0.28125	N	0.429079	0.907415	0.27578	N	.	.	.	3.1	0.08283	T	-1.01	0.26639	N	0.122	0.12055	-0.9923	0.32012	T	0.011	0.04369	T	9	0.0675143	0.09419	T	0.006276	0.16464	T	0.025	0.05312	.	.	0.197625483188	0.19356	0.23405766587631027	0.23320	.	.	0.388322114944	0.23433	T	0.04208	0.26068	T	-0.624988	0.00103	T	-0.75356	0.03349	T	0.0415845891454447	0.03978	T	0.69953	0.30934	T	0.051816516	0.09572	0.108928055	0.26246	0.051816516	0.09572	0.108928055	0.26246	-4.147	0.25980	T	0.3880020626094517	0.48155	0.082	0.08705	B	.;.;.	.;.;.	2.032996	0.25837	16.91	0.98162715966918979	0.38789	0.91354	0.53364	D	AEFGBI	0.375790	0.46018	N	-0.243154573469274	0.31376	1.758767	-0.0963521340901508	0.35541	2.057405	0.612803137491276	0.21818	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	5.62	2.59	0.30091	1.626000	0.36650	1.974000	0.30001	0.676000	0.76740	0.973000	0.34540	1.000000	0.68203	0.994000	0.71098	0.0967:0.3624:0.4073:0.1336	3.713	0.07957	842	0.36989	Dynein heavy chain domain;Dynein heavy chain domain;Dynein heavy chain 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	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	50.33	33	chr7	21894960	.	G	A	50.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.833;DP=782;ExcessHet=0;FS=61.037;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.32;ReadPosRankSum=0.951;SOR=6.351	GT:AD:DP:GQ:PL	0/1:130,26:156:64:64,0,3593	18	0	1	0
chr7	26185497	26185497	T	C	exonic	NFE2L3	.	nonsynonymous SNV	NFE2L3:NM_004289:exon4:c.T1799C:p.L600S	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.878	0.380588506181	.	.	0.0001	9.634e-05	0	0	0	0.0003	0	0	0.0001682	26	154602	rs201193253	0.0002	0.0002	0.0001	0.0002	0.0068	0.0001	0.0001	0.0051	0.0045	0.0009	0.0002	3.827e-05	0	0	0.0068	9.264e-05	0.0007	2.319e-05	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	9.695e-05	0.0004	0.0003	7.218e-05	0	0.0007	0	0	0	0.0034	0.0001	0.0005	0	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.973	0.72923	D	0.000024	0.55875	D	0.068748	0.999996	0.58761	D	3.205	0.89189	M	-3.16	0.92996	D	-5.45	0.85468	D	0.8	0.79599	1.033	0.97776	D	0.907	0.96906	D	10	0.9222318	0.91576	D	0.380589	0.92962	D	0.878	0.96391	.	.	0.9806713165	0.98045	0.7101372826163026	0.70955	0.00149504526027	0.00125	0.537696540356	0.44120	T	0.905708	0.98185	D	0.16052	0.70249	D	0.252479	0.85737	D	0.834231734275818	0.48863	D	0.886711	0.61387	D	0.883728	0.89976	0.8674998	0.92694	0.883728	0.89978	0.8674998	0.92694	-14.084	0.93326	D	.	.	0.866	0.80637	P	.	.	4.817783	0.78441	26.9	0.99864602292857774	0.94276	0.15873	0.19122	N	AEFDGBHCI	0.906109	0.85846	D	0.901294316490547	0.91824	11.08349	0.850617205461235	0.93051	11.79424	1.0	0.98316	0.78354	0.99714	0	0.827368	0.99789	0	0.643519	0.47002	0	0.741806	0.99463	0	.	.	5.71	5.71	0.89031	7.991000	0.87898	5.055000	0.47034	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.652	0.76863	747	0.52260	Basic leucine zipper domain, Maf-type|Basic-leucine zipper domain|Basic-leucine zipper 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	0.006729	0.005376	0.012228	0.006211	0.000000	0.008621	0.000000	0.000000	0.05263	3371.83	35	chr7	26185497	.	T	C	3371.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.369;DP=873;ExcessHet=0.119;FS=2.776;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.74;MQRankSum=1.14;QD=13.43;ReadPosRankSum=0.521;SOR=0.542	GT:AD:DP:GQ:PL	0/1:61,70:131:99:1719,0,1707	17	0	2	0
chr7	40316838	40316838	A	G	exonic	SUGCT	.	nonsynonymous SNV	SUGCT:NM_001193312:exon8:c.A655G:p.S219G,SUGCT:NM_001193311:exon9:c.A799G:p.S267G,SUGCT:NM_001193313:exon9:c.A799G:p.S267G,SUGCT:NM_024728:exon9:c.A688G:p.S230G	Glutaric aciduria III, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3611908	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.458	0.0427565895089	.	0.000199681	0.0001	0	0	0	0	3.994e-05	0	0.0004	3.88e-05	6	154602	rs569109110	7.307e-05	7.388e-05	5.935e-05	8.702e-05	0.0005	6.152e-05	5.692e-05	0.0004	0.0003	0	2.385e-05	0	0	0	0.0003	5.282e-05	3.362e-05	0.0005	5.257e-05	5.25e-05	7.713e-05	2.688e-05	0.0004	2.557e-05	1.83e-05	7.299e-05	3.032e-05	4.816e-05	0	0.0001	0	0	0	0	1.47e-05	0.0005	0.0004	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.993939	0.42103	D	2.515	0.73286	M	0.59	0.53943	T	-3.75	0.72240	D	0.692	0.69737	-0.5158	0.68073	T	0.282	0.65350	T	10	0.38022068	0.54137	T	0.042757	0.60630	D	0.458	0.75619	0.509	0.60540	0.438170831126	0.43439	0.566317666422194	0.56559	.	.	.	.	.	0.167	0.51290	T	-0.123153	0.32609	T	-0.0826134	0.64713	T	0.815363168716431	0.47432	D	0.950005	0.95194	D	0.88896114	0.90418	0.8026109	0.88434	0.88896114	0.90419	0.8026109	0.88435	-10.189	0.84108	D	.	.	0.252	0.58102	B	.;.;.	.;.;.	4.983266	0.82561	27.8	0.99785918258356499	0.87219	0.95208	0.63838	D	AEFBI	0.818466	0.73971	D	0.686644238495972	0.78757	6.936424	0.686496701145742	0.81351	7.506764	0.997678602582429	0.35891	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.59	5.59	0.84677	5.903000	0.69616	11.194000	0.88775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	13.802	0.62695	787	0.46738	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1412.33	57	chr7	40316838	.	A	G	1412.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.531;DP=1099;ExcessHet=0;FS=1.376;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-1.678;SOR=0.821	GT:AD:DP:GQ:PL	0/1:70,61:131:99:1426,0,1689	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3947	4446.21	147	chr7	47829596	.	G	C	4446.21	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-0.867;DP=2277;ExcessHet=25.4433;FS=276.126;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.54;ReadPosRankSum=0.158;SOR=13.082	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,61:141:99:.:.:772,0,1048:.	4	0	15	0
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V,UPP1:NM_001287426:exon7:c.A334G:p.I112V,UPP1:NM_001362774:exon7:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3333	1133.83	136	chr7	48103309	.	A	G	1133.83	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.526;DP=1709;ExcessHet=11.1788;FS=109.594;InbreedingCoeff=-0.4559;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=0.783;SOR=10.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,18:79:99:0|1:48103308_C_G:116,0,1773:48103308	6	0	12	1
chr7	65399513	65399513	A	G	exonic	ZNF92	.	nonsynonymous SNV	ZNF92:NM_001287534:exon2:c.A1171G:p.T391A,ZNF92:NM_001287532:exon3:c.A1303G:p.T435A,ZNF92:NM_007139:exon3:c.A1192G:p.T398A,ZNF92:NM_152626:exon4:c.A1399G:p.T467A,ZNF92:NM_001287533:exon5:c.A1171G:p.T391A	.	417	1101	4	0	0	4	0.00181324	.	.	.	3547022	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.021	.	0.0015	0.000798722	0.0040	0.0001	0.0003	0	0.0255	0.0044	0.0124	0.0005	0.0033958	525	154602	rs143444213	0.0027	0.0027	0.0028	0.0026	0.0023	0.0026	0.0026	0.0023	0.0022	0.0003	0.0004	0.0006	0	0.0213	0.0014	0.0023	0.0025	0.0003	0.0037	0.0037	0.0027	0.0047	0.0042	0.0034	0.0033	0.0038	0.0037	0.0001	0	0.0006	0	0	0.0233	0	0.0042	0.0047	0.0006	0.386	0.13522	T	0.51	0.10821	T	0.036	0.20732	B	0.034	0.22546	B	.	.	.	.	1	0.08975	N	0.32	0.10341	N	3.21	0.07125	T	-1.81	0.44852	N	0.05	0.03841	-0.9264	0.44659	T	0.008	0.02679	T	9	0.0028787255	0.00046	T	.	.	.	0.021	0.04004	.	.	0.0401082797425	0.02173	0.008256368628338591	0.00789	0.293728836784	0.31792	0.28295096755	0.07907	T	0.047234	0.27661	T	-0.75349	0.00017	T	-0.847151	0.00997	T	0.0078285389074692	0.00092	T	0.822518	0.48242	T	0.029111505	0.02355	0.0370881	0.03288	0.029111505	0.02354	0.0370881	0.03287	-5.411	0.42692	T	.	.	0.085	0.16538	B	.;.;.;.	.;.;.;.	-0.042155	0.03999	0.910	0.66964323872245202	0.08214	0.00326	0.01707	N	AEFGBI	0.017628	0.00475	N	-1.32167369410029	0.03428	0.1531082	-1.41002685235255	0.03151	0.1464202	0.99622375498736	0.34605	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	0.418	0.418	0.15647	-5.883000	0.00112	-20.000000	0.00162	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.948000	0.49324	0.9999:0.0:1.0E-4:0.0	5.143	0.14300	413	0.81939	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;.	.	.	.	.	.	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	1	0	0.001589	0.000000	0.000000	0.004098	0.000000	0.000000	0.003049	0.003817	0.02632	1968.33	35	chr7	65399513	.	A	G	1968.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.937;DP=833;ExcessHet=0;FS=4.668;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.64;MQRankSum=-1.126;QD=17.12;ReadPosRankSum=0.269;SOR=1.057	GT:AD:DP:GQ:PL	0/1:45,70:115:99:1982,0,1225	18	0	1	0
chr7	70763089	70763089	A	G	exonic	AUTS2	.	nonsynonymous SNV	AUTS2:NM_001127231:exon7:c.A962G:p.D321G,AUTS2:NM_015570:exon7:c.A962G:p.D321G	Mental retardation, autosomal dominant 26, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2189562	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.051	0.0283061695713	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1307377989	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	0.10623	T	0.4	0.15406	T	0.0	0.02946	B	0.0	0.01387	B	0.952111	0.08280	N	0.978539	0.993442	0.23711	N	-0.755	0.01709	N	1.55	0.29866	T	0.55	0.02721	N	0.091	0.08366	-0.9939	0.31591	T	0.028	0.12103	T	9	0.0297018	0.01096	T	0.028306	0.51004	D	0.051	0.14325	0.15	0.05339	0.151262610727	0.14761	0.11853083278155094	0.11780	0.54485426869	0.51528	0.444116473198	0.31139	T	0.013089	0.11383	T	-0.262286	0.12634	T	-0.614532	0.11620	T	0.0229400366646267	0.01017	T	0.665033	0.28342	T	0.08557663	0.19857	0.046817563	0.06608	0.08557663	0.19857	0.046817563	0.06608	-2.493	0.05926	T	0.06368053332210206	0.01974	0.076	0.09191	B	.;.;.;.;.	.;.;.;.;.	0.771924	0.11419	8.028	0.72405151962412029	0.09962	0.05185	0.11006	N	AEFDBCI	0.032846	0.03785	N	-1.06699383899412	0.07258	0.3366261	-1.02919469248441	0.09146	0.4534325	0.999941167260172	0.47345	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.567892	0.33627	0	.	.	5.32	-0.0816	0.13035	0.109000	0.15252	1.665000	0.27922	0.756000	0.94297	0.003000	0.16062	0.998000	0.33993	0.408000	0.26961	0.543:0.0:0.3229:0.134	5.184	0.14500	955	0.09969	.;.;.;.;.	.	.	.	.	.	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	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1611.33	40	chr7	70763089	.	A	G	1611.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.289;DP=745;ExcessHet=0;FS=4.572;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.759;SOR=0.787	GT:AD:DP:GQ:PL	0/1:55,58:113:99:1625,0,1527	18	0	1	0
chr7	73865845	73865845	T	A	exonic	TMEM270	.	stopgain	TMEM270:NM_182504:exon3:c.T770A:p.L257X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111994	0.02648	N	2.126740	0.999971	0.18612	N	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33176	0.85283	D	0.238774	0.85090	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.112640	0.94590	34	0.90429264807964893	0.19689	0.02600	0.07167	N	AEFGBI	0.038443	0.05440	N	-0.141813300767251	0.35585	2.045777	-0.524321075725431	0.21493	1.162972	0.378573283739671	0.19939	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.75	0.085	0.13751	-0.120000	0.10633	0.270000	0.16646	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.4207:0.0:0.5793	5.840	0.17880	940	0.13648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1413.33	36	chr7	73865845	.	T	A	1413.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=736;ExcessHet=0;FS=0.962;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.48;ReadPosRankSum=0.536;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,37:69:99:0|1:73865845_T_A:1427,0,1203:73865845	18	0	1	0
chr7	73865847	73865847	C	T	exonic	TMEM270	.	nonsynonymous SNV	TMEM270:NM_182504:exon3:c.C772T:p.P258S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00136890550404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363	0.11807	T	0.289	0.21078	T	0.001	0.07471	B	0.002	0.06944	B	0.784905	0.09442	N	0.870418	1	0.08975	N	.	.	.	2.2	0.18570	T	-4.42	0.77470	D	0.034	0.00942	-0.9901	0.32576	T	0.031	0.13242	T	10	0.03674838	0.01990	T	0.001369	0.01986	T	0.044	0.11924	0.109	0.01988	0.0138822411134	0.00435	0.056052200262900066	0.05546	0.0162732092815	0.01562	0.267518639565	0.05820	T	0.02936	0.21058	T	-0.322018	0.06733	T	-0.700333	0.05808	T	0.0801761820912361	0.10009	T	0.351465	0.07848	T	0.09484156	0.22309	0.12798849	0.30799	0.09484156	0.22308	0.12798849	0.30798	-2.944	0.09590	T	.	.	0.069	0.03093	B	.	.	-0.809210	0.01089	0.048	0.3276051264491725	0.01915	0.01211	0.04306	N	AEFGBI	0.045995	0.07588	N	-1.25135622726819	0.04282	0.1929451	-1.29447095012622	0.04505	0.2126293	0.380209286770071	0.19953	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.75	-0.122	0.12871	-1.244000	0.03013	-1.219000	0.05992	-0.827000	0.02907	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:0.5902:0.0:0.4098	6.981	0.23885	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	.	.	.	.	.	.	.	.	0.02632	1413.33	36	chr7	73865847	.	C	T	1413.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.831;DP=736;ExcessHet=0;FS=0.962;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.48;ReadPosRankSum=0.29;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,37:69:99:0|1:73865845_T_A:1427,0,1203:73865845	18	0	1	0
chr7	74376343	74376343	G	A	exonic	CLIP2	.	nonsynonymous SNV	CLIP2:NM_032421:exon9:c.G1837A:p.E613K,CLIP2:NM_003388:exon10:c.G1942A:p.E648K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.124891470793	.	.	8.309e-06	0	0	0	0	1.516e-05	0	0	6.5e-06	1	154602	rs782209088	2.052e-06	2.052e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.49613	D	0.006	0.70582	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.999997	0.81001	D	2.415	0.69758	M	-0.4	0.73205	T	-2.69	0.57435	D	0.905	0.90590	0.190	0.85736	D	0.572	0.84531	D	10	0.80845135	0.80156	D	0.124891	0.80632	D	0.456	0.75483	0.205	0.12076	0.623186856834	0.62012	0.5987706101777364	0.59808	0.854301590583	0.68688	0.722709476948	0.70441	T	0.586386	0.86533	D	0.190997	0.73056	D	0.0365772	0.72705	D	0.938299715518951	0.60879	D	0.89751	0.72277	D	0.48399895	0.66142	0.32604086	0.58514	0.48399895	0.66143	0.32604086	0.58513	-9.694	0.72060	D	.	.	0.295	0.52557	B	.;.;.	.;.;.	4.666045	0.74522	26.2	0.99934545723080159	0.99535	0.98857	0.87776	D	AEFGBCI	0.905994	0.85821	D	0.802192656439162	0.86242	8.823118	0.77335855191548	0.87887	9.380221	0.999999957205682	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	9.282000	0.95009	11.702000	0.94515	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.863000	0.40966	0.0:0.0:1.0:0.0	17.217	0.86830	917	0.20147	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	95.33	34	chr7	74376343	.	G	A	95.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.388;DP=712;ExcessHet=0;FS=37.727;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.07;ReadPosRankSum=-0.4;SOR=5.42	GT:AD:DP:GQ:PL	0/1:75,14:89:99:109,0,1964	18	0	1	0
chr7	77060448	77060448	C	T	exonic	SPDYE18	.	nonsynonymous SNV	SPDYE18:NM_001351348:exon1:c.G65A:p.R22H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465339364	2.314e-05	2.463e-05	1.713e-05	2.931e-05	2.798e-05	1.674e-05	1.433e-05	1.714e-05	1.469e-05	0	0	0	2.798e-05	0	0	2.503e-05	3.459e-05	2.527e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.415e-05	2.18e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.47e-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	.	.	.	.	.	.	.	.	0.02632	1869.33	34	chr7	77060448	.	C	T	1869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.074;DP=778;ExcessHet=0;FS=5.942;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.72;MQRankSum=-0.175;QD=12.63;ReadPosRankSum=0.378;SOR=0.592	GT:AD:DP:GQ:PL	0/1:72,76:148:99:1883,0,1727	18	0	1	0
chr7	82915834	82915834	T	C	exonic	PCLO	.	nonsynonymous SNV	PCLO:NM_014510:exon7:c.A12152G:p.D4051G,PCLO:NM_033026:exon7:c.A12152G:p.D4051G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.753	0.13425023729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.009	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	.	.	.	0.35	0.58029	T	-6.41	0.93217	D	0.899	0.98929	-0.2936	0.75164	T	0.355	0.71774	T	9	0.9127822	0.90642	D	0.13425	0.81667	D	0.753	0.91541	.	.	0.884529282836	0.88339	0.7596725611559935	0.75915	0.0432846500814	0.04663	0.791843295097	0.80722	T	.	.	.	0.328737	0.85077	D	0.234432	0.84882	D	0.964342474937439	0.66929	D	0.955504	0.84924	D	0.6487821	0.75299	0.75432044	0.85480	0.6487821	0.75300	0.75432044	0.85481	-9.81	0.72766	D	.	.	0.533	0.72943	A	.;.;.	.;.;.	3.359800	0.46376	22.3	0.99765885198503435	0.85500	0.98638	0.84997	D	AEFBI	0.940963	0.94361	D	0.827135507310657	0.87769	9.334795	0.81355289263266	0.90720	10.53709	0.999983997153801	0.51787	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.85	5.85	0.93663	8.017000	0.88732	7.957000	0.75973	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	16.227	0.82128	874	0.30607	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2426.33	33	chr7	82915834	.	T	C	2426.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.084;DP=843;ExcessHet=0;FS=5.229;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-1.821;SOR=0.926	GT:AD:DP:GQ:PL	0/1:93,87:180:99:2440,0,2692	18	0	1	0
chr7	92083295	92083295	A	C	exonic	AKAP9	.	nonsynonymous SNV	AKAP9:NM_001379277:exon12:c.A2931C:p.K977N,AKAP9:NM_005751:exon33:c.A8286C:p.K2762N,AKAP9:NM_147185:exon33:c.A8262C:p.K2754N	.	0	1519	3	0	0	3	0.000986518	.	.	.	189291	not_specified|AKAP9-related_disorder|Long_QT_syndrome_11|Long_QT_syndrome|Cardiovascular_phenotype|not_provided	MedGen:CN169374|.|MONDO:MONDO:0012738,MedGen:C2678483,OMIM:611820,Orphanet:101016,Orphanet:768|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.043	0.0125176007855	0.0008	0.000798722	0.0013	0.0002	0.0002	0	0.0009	0.0021	0.0011	0	0.0013001	201	154602	rs144875383	0.0011	0.0011	0.0011	0.0011	0.0013	0.0010	0.0010	0.0012	0.0012	0.0002	0.0003	0.0002	0	0.0011	0.0009	0.0013	0.0011	4.637e-05	0.0009	0.0009	0.0009	0.0009	0.0018	0.0008	0.0007	0.0016	0.0015	0.0001	0	0.0002	0	0	0.0005	0	0.0018	0.0005	0.0002	0.013	0.53900	D	0.047	0.58613	D	.	.	.	.	.	.	0.085927	0.20614	N	0.352981	1	0.08975	N	.	.	.	0.76	0.49919	T	-1.01	0.26639	N	0.078	0.13626	-1.0452	0.15767	T	0.072	0.29227	T	10	0.0072523654	0.00165	T	0.012518	0.31165	T	0.043	0.11576	.	.	0.262662153117	0.25859	0.14367663154327603	0.14290	0.0701881874593	0.07864	0.235476121306	0.02397	T	0.316968	0.69175	T	-0.62443	0.00103	T	-0.676991	0.07168	T	0.0109575015113562	0.00157	T	0.70273	0.31245	T	0.05499468	0.10628	0.047011368	0.06680	0.057578154	0.11475	0.07007185	0.14843	-3.836	0.21343	T	.	.	0.162	0.36554	B	.;.;.;.	.;.;.;.	1.143448	0.15306	11.75	0.2170270444736031	0.00839	0.45459	0.27543	N	AEFBI	0.117082	0.22952	N	-0.997593829936056	0.08655	0.4066411	-1.02175741166148	0.09308	0.4623056	0.079517317954245	0.15820	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	4.8	1.12	0.19700	1.214000	0.32023	1.835000	0.29145	-0.093000	0.16093	0.195000	0.24249	0.074000	0.22270	0.021000	0.11733	0.5036:0.0:0.4964:0.0	9.863	0.40298	334	0.86273	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1312.33	33	chr7	92083295	.	A	C	1312.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.176;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0.766;SOR=0.772	GT:AD:DP:GQ:PL	0/1:38,49:87:99:1326,0,1067	18	0	1	0
chr7	92095127	92095127	A	G	exonic	AKAP9	.	nonsynonymous SNV	AKAP9:NM_001379277:exon19:c.A4328G:p.K1443R,AKAP9:NM_005751:exon40:c.A9683G:p.K3228R,AKAP9:NM_147185:exon40:c.A9659G:p.K3220R	.	.	.	.	.	.	.	.	.	.	.	636429	Cardiovascular_phenotype|Long_QT_syndrome	MedGen:CN230736|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.0230598030052	7.7e-05	0.000199681	5.768e-05	0	0	0	0	8.994e-05	0	6.057e-05	5.17e-05	8	154602	rs368263036	2.189e-05	2.189e-05	1.633e-05	2.75e-05	0.0003	1.584e-05	1.356e-05	6.092e-05	2.521e-05	0	2.236e-05	0	0	0	0.0003	2.518e-05	0	1.159e-05	2.626e-05	2.624e-05	1.285e-05	4.027e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0.0005	0	0.163	0.29823	T	0.493	0.11443	T	.	.	.	.	.	.	0.001323	0.39379	N	0.000000	0.779846	0.34253	D	.	.	.	3.96	0.03597	T	-1.25	0.33401	N	0.27	0.40364	-0.9606	0.39068	T	0.013	0.05129	T	10	0.09827	0.17755	T	0.02306	0.45999	T	0.057	0.16321	.	.	0.381409048467	0.37754	0.06505550980052849	0.06444	0.325225623117	0.34678	0.504067003727	0.39394	T	0.258492	0.62965	T	-0.330762	0.06054	T	-0.532597	0.19027	T	0.16310042142868	0.18098	T	0.843016	0.51993	T	0.050246645	0.09048	0.056998357	0.10286	0.050246645	0.09048	0.056998357	0.10286	-3.789	0.20640	T	.	.	0.097	0.17360	B	.;.;.	.;.;.	3.831862	0.55391	23.6	0.99616409242596193	0.75112	0.90940	0.52550	D	AEFBI	0.282867	0.39610	N	-0.0519119560601628	0.39517	2.331652	0.0455883437308208	0.41859	2.521905	0.59775742975031	0.21700	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.38	4.23	0.49319	3.260000	0.51225	5.257000	0.48110	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.888000	0.42677	0.848:0.0:0.152:0.0	8.984	0.35142	326	0.86709	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	440.33	34	chr7	92095127	.	A	G	440.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.197;DP=680;ExcessHet=0;FS=8.18;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=0.09;SOR=0.525	GT:AD:DP:GQ:PL	0/1:34,20:54:99:454,0,884	18	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A,SAMD9:NM_017654:exon3:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3158	2467.21	234	chr7	93102964	.	C	G	2467.21	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-6.872;DP=2943;ExcessHet=11.1788;FS=134.431;InbreedingCoeff=-0.4896;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.682;SOR=12.36	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:160,37:199:99:.:.:318,0,5922:.	7	0	12	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R,SAMD9:NM_017654:exon3:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3684	2997.96	237	chr7	93102965	.	C	G	2997.96	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-5.417;DP=3257;ExcessHet=17.0548;FS=143.104;InbreedingCoeff=-0.6131;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.833;SOR=12.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:160,41:201:99:.:.:336,0,5922:.	5	0	14	0
chr7	93996297	93996297	C	G	exonic	BET1	.	nonsynonymous SNV	BET1:NM_001317739:exon3:c.G169C:p.V57L,BET1:NM_005868:exon3:c.G169C:p.V57L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0280556482367	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226283124	1.121e-05	1.505e-05	8.372e-06	1.407e-05	1.465e-05	6.64e-06	5.37e-06	8.67e-06	7.02e-06	0	0	0	0	0	0	1.465e-05	0	0	6.595e-06	6.574e-06	1.289e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.068	0.91255	T	0.076	0.92824	T	0.254	0.31272	B	0.323	0.41825	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.12	0.58754	M	.	.	.	-2.32	0.54382	N	0.596	0.67391	-0.5390	0.67201	T	0.336	0.70273	T	9	0.39718962	0.55310	T	0.028056	0.50789	D	0.197	0.47942	0.642	0.77903	0.345175991111	0.34120	0.4947836147715056	0.49399	0.203680317947	0.22786	0.664033174515	0.61986	T	0.21914	0.66025	T	0.345049	0.86175	D	0.257863	0.85992	D	0.758107244968414	0.43743	D	0.952005	0.88094	D	0.4227829	0.62276	0.33796772	0.59580	0.4227829	0.62277	0.33796772	0.59579	-6.28	0.48563	T	.	.	0.866	0.84405	P	.;.;.	.;.;.	4.146416	0.62163	24.4	0.99711438997443591	0.81353	0.97968	0.78509	D	AEFBI	0.677347	0.64208	D	0.25259867354802	0.53766	3.544266	0.340834713044124	0.57958	3.963703	0.999996830958607	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.74	4.74	0.59717	4.689000	0.61410	4.459000	0.43452	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.024	0.86315	635	0.64580	Target SNARE coiled-coil homology domain|Target SNARE coiled-coil homology domain|BET1, SNARE domain;.;Target SNARE coiled-coil homology domain|BET1, SNARE 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	.	.	.	.	.	.	.	.	0.1316	140.19	80	chr7	93996297	.	C	G	140.19	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.925;DP=1871;ExcessHet=1.3;FS=322.429;InbreedingCoeff=-0.1734;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.26;ReadPosRankSum=0.561;SOR=12.381	GT:AD:DP:GQ:PL	0/1:74,29:109:33:33,0,1665	14	0	5	0
chr7	95592889	95592889	T	C	exonic	PDK4	.	nonsynonymous SNV	PDK4:NM_002612:exon4:c.A400G:p.M134V	.	437	1034	49	2	0	53	0.0249882	.	.	.	722756	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.249	.	0.0033	0.00858626	0.0067	0.0013	0.0035	0.0001	0.0003	0.0069	0.0089	0.0174	0.0065394	1011	154602	rs144262262	0.0051	0.0051	0.0046	0.0056	0.0397	0.0050	0.0050	0.0355	0.0339	0.0015	0.0047	0.0445	0	0.0004	0.0397	0.0035	0.0081	0.0158	0.0049	0.0049	0.0048	0.0050	0.0161	0.0046	0.0045	0.0133	0.0122	0.0008	0.0077	0.0088	0.0450	0.0002	0.0008	0.0308	0.0044	0.0099	0.0161	0.076	0.34269	T	0.135	0.34124	T	0.565	0.38434	P	0.729	0.55225	P	0.000000	0.84330	D	0.033626	1	0.81001	D	2.135	0.59519	M	1.41	0.33412	T	-3.65	0.69950	D	0.838	0.83371	-0.9886	0.32953	T	0.091	0.34847	T	10	0.015191466	0.00319	T	.	.	.	0.249	0.55752	.	.	0.47290127212	0.46918	0.8276107065165884	0.82719	0.475302677234	0.46711	0.502338647842	0.39154	T	0.492506	0.81643	T	-0.218354	0.18219	T	-0.0734536	0.65379	T	0.0402720909980972	0.03740	T	0.962404	0.85901	D	0.7293651	0.79687	0.6762805	0.80990	0.7293651	0.79689	0.6762805	0.80990	-6.626	0.51251	T	.	.	0.178	0.38836	B	.	.	4.667868	0.74577	26.2	0.97712210610986427	0.35501	0.92415	0.55659	D	AEFGBCI	0.911945	0.87192	D	0.518253502972479	0.68171	5.180456	0.563569092563689	0.72348	5.795517	0.999999999249284	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.54	5.54	0.82907	6.221000	0.72188	7.885000	0.72726	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	15.992	0.80010	889	0.27310	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, 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	0	0	1	0	0.025680	0.025253	0.016304	0.070175	0.000000	0.068966	0.009146	0.011364	0.05263	3940.83	35	chr7	95592889	.	T	C	3940.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.396;DP=979;ExcessHet=0.119;FS=0.845;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.16;SOR=0.637	GT:AD:DP:GQ:PL	0/1:100,96:196:99:2440,0,2517	17	0	2	0
chr7	99563862	99563862	G	A	splicing	ZNF655	NM_001085366:exon3:c.137-1G>A;NM_024061:exon5:c.350-1G>A;NM_001085367:exon5:c.350-1G>A;NM_001009958:exon3:c.137-1G>A	.	.	.	448	1046	26	2	0	30	0.0141376	0.9884	0.86	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0039	0.00279553	0.0036	0.0013	0.0015	0.0002	0.0014	0.0038	0.0033	0.0083	0.0034411	532	154602	rs62619783	0.0051	0.0051	0.0049	0.0052	0.0087	0.0050	0.0049	0.0082	0.0080	0.0009	0.0022	0.0033	2.527e-05	0.0016	0.0056	0.0054	0.0052	0.0087	0.0031	0.0031	0.0031	0.0031	0.0075	0.0029	0.0028	0.0056	0.0049	0.0010	0	0.0028	0.0046	0	0.0008	0	0.0048	0.0024	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.420496	0.01697	T	-0.371803	0.36677	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.931358	0.81311	27.5	0.99363849922481218	0.61113	0.85770	0.44940	D	AEFDGBCIJ	.	.	.	0.295992870996268	0.55944	3.758654	0.343683091521134	0.58128	3.981628	0.999999999999945	0.74766	0.359288	0.05646	0	0.340432	0.05866	0	0.144798	0.03916	0	0.117559	0.03655	0	0.972662	0.75027	4.14	4.14	0.47821	3.805000	0.55280	10.632000	0.83505	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	12.234	0.53819	281	0.88893	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	822.33	36	chr7	99563862	.	G	A	822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.8;DP=701;ExcessHet=0;FS=1.623;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.313;SOR=0.302	GT:AD:DP:GQ:PL	0/1:33,26:59:99:836,0,1098	18	0	1	0
chr7	99976005	99976005	G	A	exonic	AZGP1	.	nonsynonymous SNV	AZGP1:NM_001185:exon1:c.C16T:p.P6S	.	.	.	.	.	.	.	.	.	.	.	3294383	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.00226656436923	.	.	0.0002	0	0	0.0002	0	0.0002	0	0.0005	0.0001811	28	154602	rs151090185	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0	4.472e-05	0	0.0002	3.744e-05	0	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	0.0002	0.0003	9.751e-05	8.264e-05	0.0002	0.0001	4.83e-05	0	6.547e-05	0	0	9.436e-05	0	0.0003	0	0	0.165	0.47745	T	0.335	0.33330	T	0.187	0.29285	B	0.021	0.19346	B	0.874029	0.08804	N	0.908575	0.999028	0.21700	N	1.98	0.53716	M	5.94	0.00616	T	-1.91	0.44471	N	0.145	0.21580	-0.9227	0.45182	T	0.003	0.00897	T	10	0.04113263	0.02741	T	0.002267	0.04342	T	0.030	0.07022	.	.	0.0920862733494	0.08535	0.4605464407067592	0.45972	0.114541801749	0.12917	0.392143905163	0.23972	T	0.12905	0.45709	T	-0.534393	0.00362	T	-0.669136	0.07664	T	0.0183913852487382	0.00557	T	0.356864	0.13720	T	0.043663207	0.06845	0.057486176	0.10459	0.043663207	0.06844	0.057486176	0.10458	-4.959	0.36392	T	.	.	0.122	0.27463	B	.;.	.;.	0.438930	0.08091	4.818	0.87853819212199002	0.17531	0.12982	0.17595	N	AEFDBHCI	0.195605	0.32263	N	-1.03068473686783	0.07972	0.3721809	-1.1077720413462	0.07551	0.36772	0.99999007013116	0.74766	0.653281	0.48532	0	0.596491	0.49125	0	0.675528	0.61593	0	0.542086	0.14980	0	.	.	2.17	0.15	0.14178	-0.037000	0.12116	2.247000	0.31658	-1.114000	0.01484	0.005000	0.17040	0.991000	0.31484	0.181000	0.21328	0.3475:0.0:0.6525:0.0	5.124	0.14207	155	0.93937	.;.	.	.	.	.	.	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	0.001056	0.000000	0.000000	0.004065	0.000000	0.000000	0.000000	0.003788	0.02632	1608.33	33	chr7	99976005	.	G	A	1608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.31;DP=760;ExcessHet=0;FS=0.675;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.53;MQRankSum=-0.92;QD=13.18;ReadPosRankSum=-0.988;SOR=0.815	GT:AD:DP:GQ:PL	0/1:57,65:122:99:1622,0,1461	18	0	1	0
chr7	100099403	100099403	C	T	exonic	MCM7	.	nonsynonymous SNV	MCM7:NM_005916:exon4:c.G277A:p.V93M	.	.	.	.	.	.	.	.	0.5128	0.504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.00279553	0.0013	0	0	0	0	0	0.0011	0.0092	0.0010802	167	154602	rs561088482	0.0005	0.0005	0.0003	0.0008	0.0087	0.0005	0.0005	0.0082	0.0079	0	8.32e-05	0	2.642e-05	0	0	1.051e-05	0.0008	0.0087	0.0003	0.0003	0.0003	0.0004	0.0112	0.0003	0.0002	0.0087	0.0078	0	0	0	0	0	0	0	0	0	0.0112	0.055	0.38407	T	0.022	0.57587	D	0.846	0.46778	P	0.546	0.49068	P	0.006166	0.32222	N	0.303181	0.99996	0.81001	D	1.9	0.50570	L	2.92	0.09915	T	-1.78	0.42001	N	0.316	0.35620	-1.1440	0.01216	T	0.043	0.18535	T	10	0.009044826	0.00205	T	0.005875	0.15281	T	0.030	0.07022	0.325	0.30711	0.581723300495	0.57844	0.4944657379829891	0.49367	0.379934829083	0.39374	0.44226077199	0.30887	T	0.079506	0.36144	T	-0.222727	0.17623	T	-0.557708	0.16593	T	0.0735561939092899	0.09141	T	0.860314	0.55333	D	0.1695562	0.37479	0.21151567	0.45584	0.1695562	0.37478	0.21151567	0.45583	-5.469	0.41578	T	0.2522883173240269	0.34133	0.159	0.43200	B	.;.	.;.	3.388020	0.46898	22.4	0.99538018178394194	0.70336	0.64305	0.32364	D	AEFBC	0.265424	0.38256	N	0.239578939687011	0.53125	3.482914	0.221964985366146	0.51069	3.292603	0.999999607491803	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	4.39	4.39	0.52211	1.173000	0.31529	4.014000	0.41189	-0.190000	0.09434	0.998000	0.41325	1.000000	0.68203	0.344000	0.25523	0.0:1.0:0.0:0.0	14.496	0.67272	189	0.92630	.;MCM N-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	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	1020.41	37	chr7	100099403	.	C	T	1020.41	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.434;DP=919;ExcessHet=0;FS=0.913;InbreedingCoeff=-0.0317;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-0.273;SOR=0.56	GT:AD:DP:GQ:PL	0/1:32,42:74:99:1034,0,800	18	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	18116.3	121	chr7	100175805	.	G	C	18116.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.889;DP=2073;ExcessHet=38.2876;FS=367.033;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.937;SOR=13.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,37:86:99:0|1:100175805_G_C:355,0,1670:100175805	1	0	18	0
chr7	100432932	100432932	T	C	exonic	MEPCE	.	nonsynonymous SNV	MEPCE:NM_019606:exon2:c.T1685C:p.L562P,MEPCE:NM_001194990:exon3:c.T278C:p.L93P,MEPCE:NM_001194991:exon3:c.T278C:p.L93P,MEPCE:NM_001194992:exon3:c.T278C:p.L93P,MEPCE:NM_001363486:exon3:c.T278C:p.L93P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	.	.	0.00339457	0.0010	0	0	0	0	0	0.0011	0.0075	0.000925	143	154602	rs371718870	0.0004	0.0004	0.0002	0.0006	0.0062	0.0004	0.0004	0.0058	0.0056	0	0	0	2.519e-05	0	0	7.194e-06	0.0007	0.0062	0.0002	0.0002	0.0003	0.0002	0.0079	0.0002	0.0002	0.0059	0.0052	0	0	0	0	0	0	0	0	0	0.0079	0.196	0.32141	T	0.329	0.27414	T	0.417	0.35244	B	0.052	0.25551	B	0.007318	0.31472	N	0.212716	1	0.81001	D	1.365	0.34158	L	0.96	0.49358	T	-3.11	0.63669	D	0.406	0.62696	-1.0558	0.12829	T	0.070	0.28577	T	10	0.009277761	0.00210	T	.	.	.	0.277	0.59375	0.554	0.67133	0.863339090656	0.86201	0.9594190336573171	0.95927	1.58306368673	0.88407	0.777312636375	0.78523	T	0.274826	0.64733	T	-0.105853	0.35454	T	0.0783412	0.75467	D	0.0632670630181079	0.07672	T	0.756624	0.37993	T	0.8330598	0.86117	0.6881847	0.81658	0.8330598	0.86118	0.6881847	0.81659	-10.268	0.75501	D	.	.	0.168	0.49363	B	.;.	.;.	4.036852	0.59739	24.1	0.99811498305335733	0.89531	0.94454	0.61218	D	AEFDBHCI	0.764409	0.70121	D	-0.11710368368928	0.36648	2.121171	0.0662080089775942	0.42863	2.600096	0.99999999989312	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	5.59	5.59	0.84677	2.593000	0.45845	6.206000	0.54953	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.718	0.62189	466	0.78352	.;Bin3-type S-adenosyl-L-methionine binding 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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1918.33	34	chr7	100432932	.	T	C	1918.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.43;DP=796;ExcessHet=0;FS=12.129;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.204;SOR=1.533	GT:AD:DP:GQ:PL	0/1:71,71:142:99:1932,0,1767	18	0	1	0
chr7	100751208	100751208	C	G	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon13:c.C1548G:p.S516R,ZAN:NM_173059:exon13:c.C1548G:p.S516R	.	430	1010	80	2	0	84	0.039924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0013	0.00459265	0.0058	0.0005	0.0020	0	0.0004	0.0027	0.0268	0.0286	0.0043078	666	154602	rs201142260	0.0026	0.0027	0.0018	0.0035	0.0262	0.0026	0.0025	0.0253	0.0249	0.0004	0.0011	0.0036	5.046e-05	0.0004	0.0192	0.0010	0.0036	0.0262	0.0021	0.0021	0.0014	0.0028	0.0270	0.0019	0.0018	0.0232	0.0218	0.0002	0	0.0017	0.0040	0	0.0007	0.0274	0.0016	0.0038	0.0270	.	.	.	0.008	0.67890	D	0.005	0.12996	B	0.008	0.13708	B	0.384634	0.04441	N	1.496520	1	0.08975	N	1.8	0.47472	L	4.45	0.02121	T	-2.3	0.51157	N	0.184	0.23125	-0.9240	0.44999	T	0.009	0.03448	T	10	0.00474146	0.00100	T	.	.	.	0.040	0.10527	0.594	0.72371	0.124217242631	0.12060	0.2111362059142021	0.21029	0.206476620277	0.23073	0.291453421116	0.09133	T	0.015962	0.13288	T	-0.437129	0.01344	T	-0.381758	0.35516	T	0.00894263022229421	0.00111	T	0.441056	0.12198	T	0.052750442	0.09883	0.06545608	0.13270	0.052750442	0.09883	0.06545608	0.13270	-3.859	0.21689	T	.	.	0.124	0.26138	B	.;.;.;.	.;.;.;.	0.704592	0.10733	7.424	0.98809529819632336	0.46590	0.06952	0.12979	N	AEFBI	0.069409	0.13736	N	-0.963840597858447	0.09384	0.4439173	-1.04830437396366	0.08743	0.4313272	1.4977826586808E-5	0.02871	0.06567	0.01388	0	0.063388	0.01293	0	0.060301	0.00762	0	0.075334	0.01956	0	.	.	3.13	1.3	0.20778	0.784000	0.26477	0.778000	0.21455	-0.182000	0.10109	0.001000	0.13787	0.248000	0.23899	0.004000	0.06068	0.2358:0.6362:0.0:0.128	3.906	0.08682	702	0.57624	MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM 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	0.015121	0.005051	0.005435	0.017544	0.000000	0.008621	0.015337	0.049242	0.07895	2389.79	34	chr7	100751208	.	C	G	2389.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.847;DP=777;ExcessHet=0.3672;FS=1.633;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.637;SOR=0.576	GT:AD:DP:GQ:PL	0/1:39,39:78:99:956,0,950	16	0	3	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	7629.63	110	chr7	100773851	.	A	*	7629.63	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.304;DP=2087;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=3.84;ReadPosRankSum=0.752;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,49:113:99:0|1:100773851_A_G:4720,1845,1529:100773851	3	9	7	0
chr7	100773854	100773854	G	0	exonic	ZAN	.	.	.	.	428	134	463	356	141	1316	0.814276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	53133.8	110	chr7	100773854	.	G	*	53133.8	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.49;DP=2033;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=27;ReadPosRankSum=0.396;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,63:112:99:0|1:100773849_CCAT_C:4698,1553,1258:100773849	15	0	4	0
chr7	100787956	100787956	G	0	exonic	ZAN	.	.	.	.	0	48	9	0	169	178	0.0857143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6842	1912.83	137	chr7	100787956	.	G	*	1912.83	.	AC=26;AF=0.684;AN=38;BaseQRankSum=0.734;DP=2414;ExcessHet=2.8258;FS=4.34;InbreedingCoeff=-0.1515;MLEAC=26;MLEAF=0.684;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=-1.014;SOR=0.992	GT:AD:DP:GQ:PL	0/1:72,53:125:99:2010,0,2862	2	9	8	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	1350.84	756	chr7	100953158	.	G	*	1350.84	.	AC=17;AF=0.447;AN=38;BaseQRankSum=3.94;DP=10155;ExcessHet=48.2876;FS=12.382;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.51;MQRankSum=-16.03;QD=0.14;ReadPosRankSum=0.292;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:338,106:505:99:.:.:3433,0,13873:.	2	0	17	0
chr7	100953371	100953371	C	0	exonic	MUC3A	.	.	.	.	991	251	197	25	58	305	0.329773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	98027.7	868	chr7	100953371	.	C	*	98027.7	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.941;DP=12379;ExcessHet=38.2876;FS=7.032;InbreedingCoeff=-0.9;MLEAC=3;MLEAF=0.079;MQ=57.43;MQRankSum=-13.36;QD=9.48;ReadPosRankSum=0.156;SOR=1.192	GT:AD:DP:GQ:PL	0/1:153,162:634:99:7649,1396,7302	16	0	3	0
chr7	100993397	100993397	C	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C2834G:p.T945S	.	671	840	6	5	0	16	0.00943396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	.	0.0072	0	0	0	0	0	0.0179	0.0174	0.0006662	103	154602	rs765205985	0.0010	0.0008	0.0005	0.0014	0.0126	0.0009	0.0009	0.0118	0.0115	0.0001	0.0001	0	8.823e-05	0	0.0026	0.0002	0.0011	0.0126	0.0004	0.0005	0.0003	0.0005	0.0065	0.0003	0.0003	0.0041	0.0033	9.909e-05	0	0	0	0	0	0.0048	0.0003	0.0017	0.0065	0.02	0.49613	D	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.695	0.17993	N	2.79	0.11298	T	-0.83	0.22727	N	0.14	0.16864	-0.9286	0.44342	T	0.011	0.04227	T	7	0.003388673	0.00059	T	.	.	.	0.015	0.02232	0.134	0.03833	0.0401082797425	0.02173	9.246147959354406E-4	0.00085	.	.	0.491496860981	0.37645	T	0.00264	0.02035	T	-0.676864	0.00050	T	-0.732721	0.04205	T	0.00196888577565584	0.00020	T	0.253875	0.03932	T	0.05397669	0.10294	0.040724274	0.04466	0.05397669	0.10293	0.040724274	0.04466	-6.96	0.53741	T	.	.	0.191	0.41000	B	.;.	.;.	1.192744	0.15842	12.14	0.2214539081257034	0.00877	0.00548	0.02514	N	AEFI	0.042964	0.06733	N	-0.980370220422049	0.09022	0.4253819	-1.12962237961425	0.07139	0.3461447	1.23114870679214E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.713	0.713	0.17330	0.606000	0.23891	-6.987000	0.01258	-0.427000	0.05212	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	1.0E-4:0.5827:0.4172:0.0	4.574	0.11617	818	0.41518	.;.	.	.	.	.	.	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	0.003546	0.000000	0.000000	0.019231	0.000000	0.000000	0.000000	0.000000	0.03333	1605.13	72	chr7	100993397	.	C	G	1605.13	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-2.01;DP=1351;ExcessHet=0;FS=12.628;InbreedingCoeff=-0.0356;MLEAC=1;MLEAF=0.033;MQ=43.85;MQRankSum=-11.24;QD=6.83;ReadPosRankSum=-0.403;SOR=1.121	GT:AD:DP:GQ:PL	0/1:154,81:235:99:1617,0,4324	14	0	1	4
chr7	100999777	100999777	G	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G9214C:p.V3072L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0151709183532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1313235451	0	8.395e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.576e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.322	0.14111	T	0.033	0.53426	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.69	0.16971	N	2.73	0.11839	T	-0.5	0.15782	N	0.023	0.01577	-0.9575	0.39644	T	0.015	0.05801	T	7	0.07019991	0.10180	T	0.015171	0.35746	T	0.061	0.17616	0.116	0.02439	0.0401082797425	0.02173	0.010339168735741642	0.00994	.	.	0.508254766464	0.39978	T	0.004718	0.04133	T	-0.39767	0.02398	T	-0.809002	0.01688	T	0.0361940557846813	0.03015	T	0.248475	0.03691	T	0.055683732	0.10854	0.032593712	0.02018	0.055683732	0.10853	0.032593712	0.02018	-6.669	0.51577	T	.	.	0.314	0.58304	B	.;.	.;.	0.675313	0.10439	7.158	0.65539096131327823	0.07801	0.01125	0.04098	N	AEFI	0.042372	0.06565	N	-0.964521093957769	0.09369	0.4431465	-1.1384068619558	0.06977	0.3377558	1.16305047027516E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.869	-0.124	0.12863	0.209000	0.17231	-0.565000	0.08457	0.251000	0.18332	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.338:0.0:0.662:0.0	3.159	0.06122	818	0.41518	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	128.33	51	chr7	100999777	.	G	C	128.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.84;DP=988;ExcessHet=0;FS=17.645;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=31.82;MQRankSum=0.577;QD=1.16;ReadPosRankSum=-0.771;SOR=0.002	GT:AD:DP:GQ:PL	0/1:96,15:111:99:142,0,3454	18	0	1	0
chr7	101003402	101003402	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G12839A:p.G4280D	.	419	1102	0	1	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00485570496628	.	0.000399361	0.0018	0.0009	0.0026	0	0	0	0	0.0045	7.68e-05	2	26028	rs549751973	0.0003	0.0002	0.0001	0.0004	0.0042	0.0002	0.0002	0.0038	0.0037	0	0	0	0	0	0.0002	1.86e-06	0.0002	0.0042	0.0001	0.0001	5.552e-05	0.0002	0.0033	7.145e-05	5.754e-05	0.0020	0.0016	2.862e-05	0	0	0	0	0	0	0	0	0.0033	0.215	0.19293	T	0.265	0.22694	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.83	0.20963	L	2.35	0.16351	T	-1.29	0.32387	N	0.1	0.09207	-0.9663	0.37954	T	0.015	0.06090	T	7	0.0061383545	0.00138	T	0.004856	0.12161	T	0.014	0.01968	0.179	0.08626	0.0401082797425	0.02173	0.024211144881665914	0.02372	.	.	0.435382336378	0.29946	T	0.004455	0.03857	T	-0.653733	0.00069	T	-0.712657	0.05159	T	0.0135081489035169	0.00248	T	0.256974	0.04034	T	0.044930454	0.07269	0.06393514	0.12740	0.044930454	0.07268	0.06393514	0.12740	-8.019	0.61199	D	.	.	0.262	0.49816	B	.;.	.;.	1.063506	0.14453	11.03	0.28466034784446759	0.01463	0.00254	0.01397	N	AEFBI	0.048083	0.08168	N	-1.42856163520965	0.02391	0.1055172	-1.61124357947491	0.01588	0.07202502	1.14122616306531E-4	0.05269	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.02	-2.05	0.06916	-0.690000	0.05240	-6.601000	0.01354	0.337000	0.19705	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3126:0.3202:0.3672	3.717	0.07970	818	0.41518	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02778	6292.72	124	chr7	101003402	.	G	A	6292.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.76;DP=3784;ExcessHet=0;FS=1.1;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.028;MQ=46.36;MQRankSum=14.69;QD=13.62;ReadPosRankSum=0.669;SOR=0.72	GT:AD:DP:GQ:PL	0/1:231,231:462:99:6306,0,5306	17	0	1	1
chr7	101036967	101036967	C	A	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C5551A:p.P1851T	.	413	1097	5	3	4	15	0.00498866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0143	0.0984425	0.0331	0.0531	0.0470	0.119	0.0235	0.0020	0.0404	0.1047	0.0196711	512	26028	rs146323653	0.0029	0.0038	0.0028	0.0030	0.0255	0.0028	0.0028	0.0246	0.0242	0.0238	0.0042	0	0.0174	0.0009	0.0028	0.0002	0.0087	0.0255	0.0013	0.0018	0.0013	0.0013	0.0067	0.0012	0.0011	0.0046	0.0039	0.0030	0	0.0012	0	0.0052	0.0011	0	7.383e-05	0.0020	0.0067	0.47	0.08483	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.215	0.00119	N	4.01	0.03208	T	-0.17	0.09627	N	0.013	0.00142	-0.9539	0.40292	T	0.000	0.00011	T	9	0.001913935	0.00026	T	.	.	.	0.038	0.09825	.	.	.	.	0.008167875960877372	0.00781	.	.	0.307297408581	0.11498	T	0.017686	0.14383	T	-0.848023	0.00003	T	-0.917049	0.00394	T	0.00526121026644924	0.00057	T	0.337066	0.07215	T	0.024168309	0.01222	0.036329627	0.03057	0.024168309	0.01222	0.036329627	0.03056	-5.758	0.44207	T	.	.	0.055	0.00368	B	.	.	-1.502060	0.00293	0.005	0.3020599618988527	0.01640	0.00015	0.00188	N	AEFGBI	0.023075	0.01237	N	-2.18235591645393	0.00084	0.003590284	-2.25569835555309	0.00084	0.003681959	0.00982018823274634	0.11918	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.65	0.07849	-3.557000	0.00482	-20.000000	0.00162	-1.599000	0.00895	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3143:0.4394:0.0:0.2462	2.898	0.05348	830	0.39242	.	.	.	.	.	rs146323653	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	0.028013	0.015152	0.012228	0.032787	0.000000	0.008621	0.009146	0.090909	0.05556	9252.58	901	chr7	101036967	.	C	A	9252.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=4.16;DP=10975;ExcessHet=0.119;FS=2.026;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=54.62;MQRankSum=0.386;QD=8.28;ReadPosRankSum=0.681;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:434,141:575:99:0|1:101036967_C_A:4448,0,17623:101036967	16	0	2	1
chr7	101036975	101036975	A	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A5559C:p.E1853D	.	416	1094	5	3	4	15	0.00500227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	.	0.0083	0.0972444	0.0329	0.0527	0.0470	0.119	0.0235	0.0020	0.0402	0.1030	0.0189796	494	26028	rs148675022	0.0019	0.0037	0.0019	0.0020	0.0170	0.0019	0.0018	0.0162	0.0159	0.0164	0.0022	0	0.0123	0.0004	0.0016	0.0001	0.0059	0.0170	0.0011	0.0018	0.0010	0.0011	0.0053	0.0009	0.0009	0.0034	0.0029	0.0024	0	0.0010	0	0.0046	0.0011	0	7.372e-05	0.0015	0.0053	0.279	0.15561	T	.	.	.	0.023	0.18885	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	4.25	0.02564	T	-0.19	0.09965	N	0.014	0.00160	-0.8966	0.48331	T	0.003	0.00800	T	9	0.0023345947	0.00034	T	.	.	.	0.005	0.00259	0.114	0.02306	.	.	0.003600133997673742	0.00337	.	.	0.318828165531	0.13244	T	0.018853	0.15125	T	-0.797276	0.00008	T	-0.864555	0.00796	T	0.0040418192727935	0.00043	T	0.288571	0.05217	T	0.048784774	0.08559	0.0455507	0.06155	0.048784774	0.08559	0.0455507	0.06154	-7.579	0.58164	D	.	.	0.187	0.40344	B	.	.	-0.266440	0.02767	0.373	0.15931405405746954	0.00408	0.00495	0.02340	N	AEFGBI	0.061181	0.11677	N	-1.44277843029105	0.02274	0.1002479	-1.54095469140167	0.02039	0.0931966	6.31312032253946E-4	0.07505	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.13	0.09274	-2.775000	0.00847	-3.288000	0.02904	0.377000	0.20376	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.678:0.0:0.0:0.322	3.858	0.08490	830	0.39242	.	.	.	.	.	.	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	0.014799	0.010101	0.006793	0.016393	0.000000	0.000000	0.006098	0.049242	0.05556	8522.58	903	chr7	101036975	.	A	C	8522.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-0.819;DP=10898;ExcessHet=0.119;FS=2.082;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=54.42;MQRankSum=-0.338;QD=7.71;ReadPosRankSum=-0.363;SOR=0.785	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:438,129:567:99:0|1:101036967_C_A:4076,0,17970:101036967	16	0	2	1
chr7	101036980	101036980	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C5564G:p.T1855S	.	415	1094	5	3	5	16	0.00500227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	.	0.0974441	0.0326	0.0520	0.0470	0.1188	0.0235	0.0020	0.0402	0.1011	0.0189411	493	26028	rs141195508	0.0012	0.0036	0.0011	0.0012	0.0103	0.0011	0.0011	0.0097	0.0094	0.0091	0.0015	0	0.0088	0.0004	0.0011	7.293e-05	0.0033	0.0103	0.0009	0.0017	0.0009	0.0009	0.0050	0.0008	0.0007	0.0032	0.0027	0.0021	0	0.0010	0	0.0032	0.0007	0	5.897e-05	0.0010	0.0050	0.046	0.40573	D	.	.	.	0.886	0.48745	P	0.126	0.32692	B	.	.	.	.	1	0.08975	N	2.38	0.68558	M	4.34	0.02341	T	-0.26	0.11185	N	0.019	0.00279	-0.8695	0.50567	T	0.004	0.01400	T	9	0.002970755	0.00048	T	.	.	.	0.022	0.04323	0.118	0.02577	.	.	0.0033279495015064546	0.00310	.	.	0.313005208969	0.12361	T	0.016925	0.13896	T	-0.728087	0.00025	T	-0.777643	0.02526	T	0.0111646505528084	0.00163	T	0.273273	0.04638	T	0.028086957	0.02093	0.04039063	0.04356	0.028086957	0.02092	0.04039063	0.04355	-7.054	0.54427	T	.	.	0.125	0.26263	B	.	.	-0.481825	0.01927	0.162	0.18751851816912099	0.00603	0.01221	0.04330	N	AEFGBI	0.053237	0.09575	N	-1.00577024279366	0.08484	0.3979318	-1.18644816366495	0.06135	0.2943982	9.29109817510881E-4	0.08013	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-0.378	0.11875	-2.310000	0.01210	-3.435000	0.02789	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3073:0.6927:0.0:0.0	5.867	0.18031	830	0.39242	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	7513.58	903	chr7	101036980	.	C	G	7513.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=8.78;DP=10856;ExcessHet=0.119;FS=0.638;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=54.28;MQRankSum=-1.019;QD=6.94;ReadPosRankSum=-0.288;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:436,120:556:99:0|1:101036967_C_A:3720,0,17946:101036967	16	0	2	1
chr7	101036987	101036987	A	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A5571G:p.I1857M	.	414	1096	5	3	4	15	0.00499319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	0.095647	0.0315	0.0482	0.0468	0.1181	0.0235	0.0020	0.0391	0.0959	0.0185185	482	26028	rs529733229	0.0004	0.0028	0.0003	0.0005	0.0049	0.0004	0.0004	0.0043	0.0041	0.0021	0.0005	0	0.0049	0.0003	0.0002	1.441e-05	0.0009	0.0040	0.0008	0.0016	0.0008	0.0008	0.0039	0.0007	0.0006	0.0024	0.0019	0.0018	0	0.0007	0	0.0032	0.0006	0	5.9e-05	0.0010	0.0039	0.498	0.07797	T	.	.	.	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.895	0.01383	N	4.22	0.02640	T	-0.11	0.08653	N	0.007	0.00055	-0.9180	0.45824	T	0.004	0.01330	T	9	0.002025187	0.00029	T	.	.	.	0.017	0.02790	.	.	.	.	0.0045953391162681006	0.00432	.	.	0.289408802986	0.08836	T	0.017638	0.14358	T	-0.761262	0.00015	T	-0.839816	0.01101	T	0.00139843970367867	0.00014	T	0.256474	0.04006	T	0.033943307	0.03713	0.04277209	0.05172	0.033943307	0.03713	0.04277209	0.05172	-3.979	0.23488	T	.	.	0.075	0.05447	B	.	.	-1.288929	0.00448	0.009	0.16073283758156165	0.00417	0.00033	0.00296	N	AEFGBI	0.026552	0.02014	N	-1.81936807619775	0.00499	0.02149962	-1.87946331982856	0.00537	0.02382829	0.00107390509056506	0.08194	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-0.746	0.10535	-3.464000	0.00514	-20.000000	0.00162	-1.691000	0.00771	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5762:0.0:0.4238:0.0	4.446	0.11018	830	0.39242	.	.	.	.	.	.	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	0.001586	0.000000	0.001359	0.008197	0.000000	0.000000	0.000000	0.003788	0.05556	6256.58	903	chr7	101036987	.	A	G	6256.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=6.52;DP=10809;ExcessHet=0.119;FS=0.659;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=54.01;MQRankSum=-2.186;QD=6.03;ReadPosRankSum=-2.173;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:434,105:539:99:0|1:101036967_C_A:3096,0,17908:101036967	16	0	2	1
chr7	101036988	101036988	G	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.G5572C:p.A1858P	.	419	1091	5	3	4	15	0.00501596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	.	0.095647	0.0315	0.0482	0.0468	0.1180	0.0235	0.0020	0.0391	0.0957	0.0185569	483	26028	rs139009576	0.0004	0.0028	0.0003	0.0004	0.0045	0.0003	0.0003	0.0039	0.0037	0.0015	0.0004	0	0.0045	0.0002	0	9.906e-06	0.0007	0.0035	0.0008	0.0016	0.0007	0.0008	0.0039	0.0006	0.0006	0.0024	0.0019	0.0017	0	0.0006	0	0.0033	0.0006	0	5.92e-05	0.0010	0.0039	0.372	0.11478	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.95	0.00216	N	4.15	0.02815	T	0.05	0.06369	N	0.053	0.02462	-0.9360	0.43241	T	0.003	0.01059	T	9	0.0026809275	0.00041	T	.	.	.	0.026	0.05648	.	.	.	.	0.02903108957003057	0.02852	.	.	0.296740233898	0.09916	T	0.017693	0.14390	T	-0.711379	0.00031	T	-0.768163	0.02829	T	0.00329269740675991	0.00035	T	0.304969	0.05824	T	0.043084126	0.06653	0.050497707	0.07939	0.043084126	0.06652	0.050497707	0.07939	-2.712	0.07404	T	.	.	0.087	0.11027	B	.	.	-0.868193	0.00980	0.039	0.24002919280004392	0.01041	0.00011	0.00159	N	AEFGBI	0.017581	0.00471	N	-2.0766285698698	0.00144	0.006166915	-2.15095754879182	0.00144	0.006337654	0.0149628824962402	0.12659	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.65	0.07849	-3.812000	0.00405	-4.376000	0.02188	-2.974000	0.00147	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.241:0.3094:0.2397:0.2099	0.369	0.00350	830	0.39242	.	.	.	.	.	.	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	0.000529	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05556	6229.58	903	chr7	101036988	.	G	C	6229.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=5.17;DP=10818;ExcessHet=0.119;FS=0.659;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=54.06;MQRankSum=-2.267;QD=5.96;ReadPosRankSum=-2.22;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:438,105:543:99:0|1:101036967_C_A:3084,0,18075:101036967	16	0	2	1
chr7	101037005	101037005	T	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.T5589G:p.S1863R	.	416	1094	5	3	4	15	0.00500227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0007	.	0.0208	0.0334	0.0332	0.0858	0.0159	0.0015	0.0301	0.0546	7.68e-05	2	26028	rs144965214	0.0002	0.0007	0.0002	0.0003	0.0032	0.0002	0.0002	0.0027	0.0026	0.0004	0.0003	0	0.0032	0.0001	0	9e-07	0.0002	0.0021	0.0004	0.0011	0.0004	0.0003	0.0019	0.0003	0.0003	0.0009	0.0006	0.0009	0	0.0002	0	0.0016	0.0002	0	2.947e-05	0.0010	0.0019	0.37	0.11550	T	.	.	.	0.797	0.44809	P	0.321	0.41760	B	.	.	.	.	1	0.08975	N	1.59	0.40313	L	4.23	0.02616	T	-0.77	0.21429	N	0.024	0.00445	-0.8886	0.49055	T	0.005	0.01615	T	8	0.0044896007	0.00092	T	.	.	.	0.033	0.08068	0.194	0.10571	.	.	0.01233914984188236	0.01192	.	.	0.299895703793	0.10385	T	0.017757	0.14435	T	-0.682001	0.00047	T	-0.73945	0.03914	T	0.00939915424853505	0.00120	T	0.340266	0.07351	T	0.10370106	0.24512	0.1283763	0.30886	0.10370106	0.24512	0.1283763	0.30885	-7.069	0.54537	T	.	.	0.241	0.47524	B	.	.	0.527789	0.08965	5.746	0.33326692460308971	0.01979	0.01430	0.04814	N	AEFGBI	0.064454	0.12515	N	-1.02251595279122	0.08138	0.3805158	-1.20536102117136	0.05823	0.2785533	0.00121046594272654	0.08334	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.046	0.046	0.13572	0.013000	0.13206	-6.532000	0.01373	0.335000	0.19678	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	830	0.39242	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	3329.58	903	chr7	101037005	.	T	G	3329.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=6.24;DP=10752;ExcessHet=0.119;FS=3.8;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=53.78;MQRankSum=-5.007;QD=3.4;ReadPosRankSum=-4.706;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:445,71:516:99:0|1:101036967_C_A:1642,0,18472:101036967	16	0	2	1
chr7	101037014	101037014	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C5598G:p.S1866R	.	415	1096	6	3	2	14	0.00544465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	.	0.0449281	0.0050	0.0090	0.0081	0.0244	0.0021	0.0004	0.0056	0.0112	0.008683	226	26028	rs201207919	0.0002	0.0007	0.0002	0.0002	0.0031	0.0002	0.0002	0.0026	0.0024	0.0003	0.0002	0	0.0031	7.959e-05	0	2.751e-06	8.734e-05	0.0020	0.0003	0.0011	0.0003	0.0003	0.0023	0.0002	0.0002	0.0010	0.0007	0.0008	0	0.0002	0	0.0006	0.0002	0	1.813e-05	0.0014	0.0023	0.007	0.59928	D	.	.	.	0.797	0.44809	P	0.093	0.30104	B	.	.	.	.	1	0.08975	N	2.295	0.65404	M	4.23	0.02616	T	-0.65	0.18877	N	0.038	0.01203	-0.9674	0.37733	T	0.004	0.01261	T	9	0.0030860305	0.00051	T	.	.	.	0.029	0.06676	0.264	0.20946	0.0297737177859	0.01360	0.005365800952421269	0.00507	.	.	0.329270333052	0.14824	T	0.017645	0.14358	T	-0.684915	0.00045	T	-0.747215	0.03595	T	0.0134149078318583	0.00243	T	0.412159	0.10706	T	0.078873836	0.17988	0.07059529	0.15018	0.078873836	0.17988	0.07059529	0.15018	-5.575	0.42563	T	.	.	0.343	0.56098	A	.	.	-0.584777	0.01613	0.110	0.092152076708719846	0.00089	0.00097	0.00633	N	AEFGBI	0.034789	0.04369	N	-2.08138097362421	0.00141	0.006020611	-2.26102061448563	0.00081	0.003577088	0.993921298330382	0.33413	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.65	0.07849	-4.764000	0.00219	-3.044000	0.03112	-1.910000	0.00516	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1985:0.2707:0.1984:0.3324	0.291	0.00241	830	0.39242	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	2424.58	955	chr7	101037014	.	C	G	2424.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=4.9;DP=10804;ExcessHet=0.119;FS=2.868;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=53.62;MQRankSum=-6.634;QD=2.55;ReadPosRankSum=-6.374;SOR=1.125	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:449,61:510:99:0|1:101036967_C_A:1210,0,18659:101036967	16	0	2	1
chr7	101041723	101041723	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C10307G:p.A3436G	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00117443237866	.	.	6.59e-05	0	0	0	0	0	0.0011	0.0004	5.17e-05	8	154602	rs774773933	2.942e-05	2.941e-05	1.225e-05	4.675e-05	0.0004	2.216e-05	1.97e-05	0.0003	0.0003	0	0	0	0	0	0	7.194e-06	1.656e-05	0.0004	6.582e-06	6.57e-06	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.072	0.34982	T	.	.	.	0.996	0.68779	D	0.986	0.76916	D	.	.	.	.	1	0.08975	N	1.445	0.36358	L	4.5	0.02032	T	-1.29	0.32387	N	0.051	0.02272	-0.9112	0.46707	T	0.008	0.02679	T	9	0.06549829	0.08844	T	0.001174	0.01484	T	0.036	0.09122	0.149	0.05238	0.0401082797425	0.02173	0.004952697460590949	0.00467	.	.	0.175836771727	0.00062	T	0.017082	0.13999	T	-0.592068	0.00163	T	-0.783693	0.02344	T	0.127640068531036	0.15162	T	0.262774	0.04248	T	0.037444927	0.04802	0.05649467	0.10106	0.037444927	0.04801	0.05649467	0.10105	-6.615	0.51168	T	.	.	0.112	0.22024	B	.	.	-0.064066	0.03861	0.835	0.69467673058596502	0.08982	0.04635	0.10302	N	AEFBCI	0.060015	0.11376	N	-0.87640674262001	0.11406	0.5502366	-1.13147726805138	0.07105	0.3443713	1.88197497070138E-4	0.05844	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.2	-2.4	0.06204	-1.555000	0.02274	-8.141000	0.01021	-4.619000	0.00024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4241:0.5759:0.0:0.0	6.443	0.21060	835	0.38313	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	8891.33	37	chr7	101041723	.	C	G	8891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=1810;ExcessHet=0;FS=0.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.424;SOR=0.692	GT:AD:DP:GQ:PL	0/1:352,321:673:99:8905,0,9582	18	0	1	0
chr7	101172378	101172378	G	A	exonic	NAT16	.	nonsynonymous SNV	NAT16:NM_001369695:exon4:c.C811T:p.R271C,NAT16:NM_198571:exon4:c.C811T:p.R271C,NAT16:NM_001369694:exon5:c.C811T:p.R271C	.	433	1086	1	0	2	3	0.000460193	.	.	.	2241907	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.104	0.0118895629892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	0.057	0.46406	T	0.999	0.77913	D	0.8	0.58175	P	0.985417	0.08066	N	0.990854	0.962766	0.26053	N	1.1	0.28011	L	0.89	0.45636	T	-1.45	0.35597	N	0.172	0.21319	-0.9628	0.38645	T	0.126	0.43215	T	10	0.15018845	0.28412	T	0.01189	0.29959	T	0.104	0.29647	0.403	0.43408	0.219573609325	0.21563	0.26719325358123325	0.26632	0.680249482068	0.59982	0.703217387199	0.67609	T	0.009583	0.08721	T	-0.21422	0.18789	T	-0.545488	0.17760	T	0.52656882041795	0.33607	D	0.640736	0.25328	T	0.14818697	0.33841	0.12043583	0.29065	0.14818697	0.33841	0.12043583	0.29064	-4.935	0.36126	T	.	.	0.195	0.41648	B	.;.	.;.	2.818433	0.37125	20.4	0.9980529132685162	0.88995	0.06542	0.12554	N	AEFDGBHCI	0.158000	0.28359	N	-0.242390609241757	0.31407	1.760814	-0.385213074971288	0.25437	1.398861	0.999968664982983	0.48965	0.59774	0.34471	0	0.563428	0.19063	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	2.56	0.689	0.17197	-0.985000	0.03861	0.000000	0.13247	0.590000	0.31872	0.000000	0.06391	0.978000	0.30204	0.988000	0.63387	0.2684:0.0:0.7316:0.0	6.546	0.21601	867	0.32089	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1223.33	41	chr7	101172378	.	G	A	1223.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.296;DP=836;ExcessHet=0;FS=4.806;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-0.829;SOR=0.811	GT:AD:DP:GQ:PL	0/1:56,50:106:99:1237,0,1382	18	0	1	0
chr7	103309033	103309033	A	G	exonic	PMPCB	.	nonsynonymous SNV	PMPCB:NM_004279:exon8:c.A931G:p.I311V	.	435	1086	1	0	0	1	0.000460193	.	.	.	3837532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.062	0.00988091217189	7.7e-05	0.000599042	0.0004	0	0	0	0	0	0	0.0032	0.0003558	55	154602	rs145931070	0.0002	0.0002	9.016e-05	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	6.039e-05	0	0	0	0	0	9.014e-06	0.0002	0.0028	0.0001	0.0001	7.709e-05	0.0001	0.0027	6.506e-05	5.318e-05	0.0016	0.0013	7.217e-05	0	0	0	0	0	0	0	0	0.0027	0.555	0.06648	T	0.518	0.10536	T	0.035	0.20614	B	0.052	0.25551	B	0.000000	0.84330	D	0.048261	0.999938	0.51612	D	1.445	0.36358	L	1.59	0.28836	T	-0.73	0.20576	N	0.149	0.25130	-1.1024	0.03813	T	0.066	0.27191	T	10	0.007566899	0.00172	T	0.009881	0.25743	T	0.062	0.17934	.	.	0.192905019026	0.18896	0.39032581523904325	0.38947	0.11670823845	0.13163	0.619663715363	0.55681	T	0.082087	0.36747	T	-0.52432	0.00415	T	-0.530852	0.19202	T	0.0978661061021254	0.12120	T	0.919108	0.70849	D	0.24821028	0.47806	0.23808044	0.49122	0.24821028	0.47806	0.23808044	0.49121	-3.968	0.23323	T	0.2730606071303544	0.36701	0.088	0.11510	B	.;.	.;.	2.235782	0.28541	17.83	0.96580792598678777	0.30333	0.85005	0.44105	D	AEFGBCI	0.562929	0.57032	D	-0.258830697224144	0.30752	1.717686	-0.0947466650667741	0.35606	2.062039	0.37705048223917	0.19925	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.35	4.16	0.48138	3.623000	0.53964	6.145000	0.54110	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.981000	0.58702	0.7235:0.2765:0.0:0.0	11.865	0.51764	651	0.62880	Peptidase M16, C-terminal;Peptidase M16, C-terminal	.	.	.	.	.	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	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2021.33	33	chr7	103309033	.	A	G	2021.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.709;DP=762;ExcessHet=0;FS=2.202;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=1.47;SOR=0.505	GT:AD:DP:GQ:PL	0/1:59,79:138:99:2035,0,1440	18	0	1	0
chr7	107959763	107959763	G	A	exonic	LAMB1	.	nonsynonymous SNV	LAMB1:NM_002291:exon19:c.C2386T:p.P796S	Lissencephaly 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	4152662	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.297	0.0374168422556	.	0.000199681	0.0001	0	0	0	0	0	0	0.0009	0.0001035	16	154602	rs547005958	4.104e-05	4.104e-05	3.131e-05	5.088e-05	0.0006	3.244e-05	2.919e-05	0.0005	0.0005	0	0	0	0	0	0.0002	0	6.623e-05	0.0006	1.969e-05	1.968e-05	1.285e-05	2.685e-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	0.055	0.38407	T	0.098	0.39954	T	0.893	0.51990	P	0.545	0.58928	P	.	.	.	.	0.999999	0.58761	D	2.16	0.60381	M	0.04	0.62051	T	-5.53	0.86073	D	0.412	0.45237	-0.2984	0.75029	T	0.410	0.75880	T	9	0.28867814	0.46450	T	0.037417	0.57603	D	0.297	0.61730	0.721	0.85585	0.676109863045	0.67336	0.5214940509268828	0.52072	0.302519786144	0.32581	0.653697371483	0.60511	T	0.259106	0.63033	T	-0.220486	0.17928	T	-0.162294	0.58145	T	0.638247072696686	0.37963	D	0.923908	0.72182	D	0.23383068	0.46194	0.3938325	0.64093	0.23383068	0.46194	0.3938325	0.64092	-6.745	0.52148	T	.	.	0.093	0.24566	B	.;.;.	.;.;.	4.295932	0.65548	24.8	0.99924291426125234	0.98980	0.93864	0.59412	D	AEFBCI	0.739844	0.68427	D	0.488654562656887	0.66425	4.948608	0.534985724794749	0.70358	5.493704	0.999999999676125	0.74766	0.67177	0.52595	0	0.563428	0.19063	0	0.688494	0.62686	0	0.711	0.71501	0	.	.	5.31	5.31	0.75063	4.538000	0.60361	7.638000	0.63056	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.174	0.93583	727	0.54702	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF 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	.	.	.	.	.	.	.	.	0.02632	1669.33	34	chr7	107959763	.	G	A	1669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=834;ExcessHet=0;FS=1.254;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=2.03;SOR=0.805	GT:AD:DP:GQ:PL	0/1:96,65:161:99:1683,0,2399	18	0	1	0
chr7	124851918	124851918	C	A	exonic	POT1	.	nonsynonymous SNV	POT1:NM_001042594:exon10:c.G510T:p.Q170H,POT1:NM_015450:exon11:c.G903T:p.Q301H	.	440	1081	1	0	0	1	0.000462321	.	.	.	457104	Hereditary_cancer-predisposing_syndrome|not_provided|not_specified|Tumor_predisposition_syndrome_3|POT1-related_disorder|Pulmonary_fibrosis_and/or_bone_marrow_failure_syndrome,_telomere-related,_8|Cerebroretinal_microangiopathy_with_calcifications_and_cysts_3	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014368,MedGen:C4014476,OMIM:615848,Orphanet:618|.|MONDO:MONDO:0957263,MedGen:C5830496,OMIM:620367|MONDO:MONDO:0957264,MedGen:C5830497,OMIM:620368	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.136	0.0144066373101	0.0029	0.00159744	0.0026	0.0011	0.0013	0.0001	0.0041	0.0036	0.0023	0.0015	0.0027296	422	154602	rs116916706	0.0050	0.0050	0.0051	0.0049	0.0059	0.0049	0.0049	0.0057	0.0057	0.0009	0.0012	7.665e-05	0	0.0037	0.0002	0.0059	0.0054	0.0021	0.0030	0.0030	0.0032	0.0028	0.0047	0.0028	0.0027	0.0043	0.0041	0.0014	0	0.0014	0	0.0004	0.0035	0	0.0047	0.0038	0.0014	0.143	0.25355	T	0.057	0.46406	T	0.973	0.57599	D	0.77	0.56828	P	0.117501	0.19151	N	0.560758	0.999997	0.08975	N	2.65	0.77586	M	0.82	0.48142	T	-1.39	0.43149	N	0.229	0.33250	-0.8829	0.49529	T	0.143	0.46532	T	10	0.0039791167	0.00077	T	0.014407	0.34508	T	0.136	0.36778	0.252	0.19067	0.595301672115	0.59208	0.5165991918110379	0.51582	0.237661895385	0.26305	0.326851516962	0.14459	T	0.21509	0.57686	T	-0.460536	0.00976	T	-0.431276	0.29791	T	0.0174436964394395	0.00481	T	0.606339	0.22814	T	0.03864433	0.05189	0.040631518	0.04436	0.041615646	0.06161	0.048539113	0.07229	-4.019	0.24087	T	0.1863759991736207	0.24255	0.126	0.26700	B	.;.	.;.	1.062284	0.14442	11.01	0.98493922337933948	0.42132	0.11385	0.16599	N	AEFBI	0.074043	0.14829	N	-0.578567553959384	0.19596	1.026869	-0.783961302408964	0.14888	0.7802644	6.56076162446506E-5	0.04366	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.44	-0.749	0.10525	-0.073000	0.11428	-1.233000	0.05954	-0.930000	0.02149	0.009000	0.18154	0.000000	0.08366	0.725000	0.34934	0.0:0.563:0.0:0.437	9.597	0.38745	749	0.51929	.;.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	706.33	33	chr7	124851918	.	C	A	706.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.218;DP=672;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-0.255;SOR=0.748	GT:AD:DP:GQ:PL	0/1:24,27:51:99:720,0,612	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	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	.;.	.	.	.	.	.	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	0.018630	0.060606	0.006793	0.008772	0.000000	0.017241	0.033537	0.007576	0.3462	3537.59	237	chr7	128479325	.	T	C	3537.59	.	AC=9;AF=0.346;AN=26;BaseQRankSum=2.39;DP=4144;ExcessHet=5.3738;FS=36.404;InbreedingCoeff=-0.4618;MLEAC=11;MLEAF=0.423;MQ=57.58;MQRankSum=-13.85;QD=1.75;ReadPosRankSum=-3.77;SOR=5.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,24:230:99:0|1:128479325_T_C:367,0,8498:128479325	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	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	.;.	.	.	.	.	.	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	0.021652	0.075758	0.008152	0.014620	0.000000	0.017241	0.033537	0.011364	0.375	3542.4	237	chr7	128479326	.	G	C	3542.4	.	AC=9;AF=0.375;AN=24;BaseQRankSum=1.86;DP=4339;ExcessHet=5.3738;FS=36.404;InbreedingCoeff=-0.4902;MLEAC=12;MLEAF=0.5;MQ=57.62;MQRankSum=-13.85;QD=1.75;ReadPosRankSum=-3.735;SOR=5.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,24:230:99:0|1:128479325_T_C:367,0,8498:128479325	3	0	9	7
chr7	139953397	139953397	C	A	exonic	TBXAS1	.	nonsynonymous SNV	TBXAS1:NM_001366537:exon5:c.C297A:p.D99E,TBXAS1:NM_001061:exon6:c.C480A:p.D160E,TBXAS1:NM_001314028:exon6:c.C423A:p.D141E,TBXAS1:NM_030984:exon6:c.C480A:p.D160E,TBXAS1:NM_001166253:exon7:c.C618A:p.D206E,TBXAS1:NM_001166254:exon8:c.C279A:p.D93E,TBXAS1:NM_001130966:exon10:c.C480A:p.D160E	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	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1837.33	37	chr7	139953397	.	C	A	1837.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.123;DP=753;ExcessHet=0;FS=0.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.253;SOR=0.782	GT:AD:DP:GQ:PL	0/1:62,70:132:99:1851,0,1608	18	0	1	0
chr7	142772171	142772171	G	T	exonic	PRSS2	.	stopgain	PRSS2:NM_001303414:exon2:c.G163T:p.E55X,PRSS2:NM_002770:exon2:c.G163T:p.E55X	.	1	1510	11	0	0	11	0.00362917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373988778	0.0002	0.0002	0.0001	0.0002	0.0009	0.0002	0.0001	0.0005	0.0005	0	0.0002	0.0003	0	1.872e-05	0.0009	0.0001	0.0002	0.0007	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	8.72e-05	0.0002	0.0001	2.412e-05	0	0	0.0006	0	9.422e-05	0	0.0002	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.673	0.74280	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	3.921126	0.57248	23.8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076000	0.14570	.	.	-0.679000	0.04243	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1615.33	33	chr7	142772171	.	G	T	1615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.522;DP=3416;ExcessHet=0;FS=1.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.25;MQRankSum=6.27;QD=6.7;ReadPosRankSum=-0.397;SOR=0.605	GT:AD:DP:GQ:PL	0/1:161,80:241:99:1629,0,5116	18	0	1	0
chr7	144372351	144372351	G	A	exonic	ARHGEF5	.	nonsynonymous SNV	ARHGEF5:NM_005435:exon8:c.G3898A:p.V1300I	.	532	984	6	0	0	6	0.00303951	.	.	.	2678707	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.066	0.0125431876207	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1360049836	0.0002	0.0002	0.0002	0.0003	0.0014	0.0002	0.0002	0.0011	0.0010	7.476e-05	4.119e-05	6.752e-05	0.0003	0	0.0014	8.845e-05	0.0001	0.0013	9.735e-05	0.0002	7.78e-05	0.0001	0.0006	5.579e-05	4.387e-05	0.0001	5.016e-05	0	0	0	0	0.0002	0.0001	0	0.0001	0	0.0006	1.0	0.06482	T	0.523	0.12037	T	0.003	0.11197	B	0.004	0.10090	B	0.039511	0.24162	N	0.393295	0.567638	0.32266	D	1.18	0.29980	L	-0.04	0.63240	T	-0.21	0.10308	N	0.055	0.02658	-0.9509	0.40816	T	0.105	0.38440	T	10	0.031908303	0.01333	T	0.012543	0.31203	T	0.066	0.19193	0.392	0.41606	0.0762999501168	0.06990	0.17734939976054376	0.17653	.	.	0.30649253726	0.11377	T	0.076497	0.35433	T	-0.225587	0.17238	T	-0.561816	0.16208	T	0.0112066081597362	0.00164	T	0.815218	0.46991	T	0.017701847	0.00296	0.036302824	0.03051	0.017701847	0.00295	0.036302824	0.03050	-4.985	0.40259	T	.	.	0.061	0.04080	B	.;.	.;.	0.093921	0.04970	1.534	0.71549851739419357	0.09667	0.06998	0.13024	N	AEFI	0.055331	0.10138	N	-1.37692283568445	0.02855	0.126691	-1.35868452357163	0.03705	0.1733548	2.08366695399891E-4	0.05948	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	4.89	-6.81	0.01543	-0.010000	0.12681	-0.851000	0.07178	-0.712000	0.03928	0.001000	0.13787	0.000000	0.08366	0.989000	0.64315	0.3496:0.0:0.6504:0.0	14.051	0.64261	951	0.11083	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	.	.	.	.	.	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	1	0	.	.	.	.	.	.	.	.	0.02632	38.34	17	chr7	144372351	.	G	A	38.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.36;DP=345;ExcessHet=0;FS=0;InbreedingCoeff=-0.0274;MLEAC=1;MLEAF=0.026;MQ=26.79;MQRankSum=0.546;QD=1.53;ReadPosRankSum=-0.297;SOR=0.05	GT:AD:DP:GQ:PL	0/1:21,4:25:52:52,0,585	18	0	1	0
chr7	144531119	144531119	G	T	exonic	TPK1	.	nonsynonymous SNV	TPK1:NM_001350881:exon9:c.C664A:p.P222T	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.000911756561738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.181e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0119	0.26322	T	0.045	0.19356	T	5	0.08755943	0.14992	T	9.12E-4	0.00866	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.37501	B	.	.	0.195833	0.05813	2.255	0.70680456115124823	0.09375	0.00921	0.03583	N	AEFDGIJ	0.040305	0.05977	N	-0.938702680452341	0.09947	0.473125	-1.14253596574489	0.06903	0.333869	0.299962348957585	0.19178	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	1.47	0.31	0.15071	0.022000	0.13402	-0.017000	0.12978	-0.163000	0.11536	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.7395:0.0:0.2605:0.0	3.129	0.06031	968	0.07033	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	43.94	1	chr7	144531119	.	G	T	43.94	.	AC=2;AF=0.167;AN=12;DP=9;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;QD=21.97;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	5	1	0	13
chr7	150628268	150628268	G	A	exonic	GIMAP6	.	nonsynonymous SNV	GIMAP6:NM_001244071:exon3:c.C106T:p.R36C	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00251118314312	7.7e-05	0.000199681	0.0004	0	0	0	0	7.511e-05	0	0.0027	0.0003234	50	154602	rs369994995	0.0002	0.0002	9.257e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	2.987e-05	2.236e-05	0	2.519e-05	1.872e-05	0.0005	1.979e-05	0.0002	0.0022	0.0001	0.0001	7.708e-05	0.0001	0.0027	7.085e-05	5.742e-05	0.0016	0.0013	7.216e-05	0	0	0	0.0002	0	0	0	0	0.0027	0.0	0.91255	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-5.29	0.84315	D	0.224	0.25130	-0.8767	0.50020	T	0.094	0.35631	T	5	0.006902069	0.00157	T	0.002511	0.05009	T	0.053	0.14996	.	.	0.136095386433	0.13204	.	.	.	.	.	.	.	.	.	.	-0.788708	0.00009	T	-0.910004	0.00436	T	0.118799872681567	0.14313	T	0.370863	0.08760	T	.	.	.	.	.	.	.	.	-5.702	0.43712	T	.	.	0.100	0.17060	B	.	.	0.013331	0.04373	1.127	0.56552270685452033	0.05577	0.01700	0.05407	N	AEFDBCI	0.024648	0.01560	N	-1.35359572095615	0.03088	0.1373913	-1.60890270835552	0.01602	0.07266613	0.999999997196956	0.74766	0.67177	0.52595	0	0.685571	0.66316	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	3.84	-7.69	0.01124	-3.386000	0.00542	-20.000000	0.00162	-2.337000	0.00312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4864:0.1204:0.3931:0.0	7.348	0.25845	856	0.34373	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2609.33	70	chr7	150628268	.	G	A	2609.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=921;ExcessHet=0;FS=1.119;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.5;SOR=0.719	GT:AD:DP:GQ:PL	0/1:96,95:191:99:2623,0,2443	18	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.4737	21366.3	445	chr7	152229940	.	A	G	21366.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.758;DP=6155;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=44.67;MQRankSum=0.851;QD=3.8;ReadPosRankSum=0.116;SOR=0.691	GT:AD:DP:GQ:PL	0/1:213,71:284:99:1159,0,7667	1	0	18	0
chr8	7482710	7482710	C	G	exonic	DEFB106A;DEFB106B	.	nonsynonymous SNV	DEFB106B:NM_001040704:exon2:c.G92C:p.G31A,DEFB106A:NM_152251:exon2:c.G92C:p.G31A	.	503	1018	1	0	0	1	0.000490918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0252906856732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.225	0.25514	T	.	.	.	.	.	.	0.000227	0.47286	D	0.000000	1	0.08975	N	.	.	.	0.03	0.62183	T	-6.0	0.89534	D	0.715	0.71765	-0.6674	0.61946	T	0.372	0.73076	T	9	0.73233545	0.74384	D	0.025291	0.48264	D	0.205	0.49236	0.397	0.42426	0.594874987132	0.59165	0.7415104533306115	0.74097	.	.	0.58139193058	0.50282	T	.	.	.	0.0454031	0.57748	T	-0.172558	0.57210	T	0.978051602840424	0.72138	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	0.56882	A	.	.	3.095569	0.41698	21.4	0.99285270063725062	0.58043	0.33830	0.24923	N	AEFI	0.066860	0.13115	N	0.0737501000505284	0.45239	2.783936	-0.120630025707348	0.34558	1.989295	4.03640174806796E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.0	3.0	0.33773	1.682000	0.37245	4.760000	0.44710	0.519000	0.23678	0.778000	0.29449	0.999000	0.35428	0.005000	0.06747	0.0:1.0:0.0:0.0	9.647	0.39037	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	1327.8	33	chr8	7482710	.	C	G	1327.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.92;DP=822;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.086;MLEAC=3;MLEAF=0.079;MQ=33;MQRankSum=0.17;QD=5.38;ReadPosRankSum=-1.514;SOR=0.653	GT:AD:DP:GQ:PL	0/1:54,27:81:99:506,0,1447	16	0	3	0
chr8	8703108	8703108	-	CAAGCC	exonic	CLDN23	.	nonframeshift insertion	CLDN23:NM_194284:exon1:c.710_711insCAAGCC:p.K244_V245insPK	.	0	222	4	0	0	4	0.00892857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0075	.	0.0064	0.026	0.0037	0	0	0.0020	0.0130	0.0135	0.001191	31	26028	rs57083604	0.0030	0.0031	0.0027	0.0032	0.0260	0.0029	0.0029	0.0245	0.0239	0.0260	0.0023	0.0049	2.809e-05	0.0003	0.0064	0.0016	0.0047	0.0138	0.0091	0.0092	0.0092	0.0090	0.0272	0.0087	0.0086	0.0259	0.0254	0.0272	0	0.0039	0.0058	0.0002	0.0002	0.0034	0.0017	0.0052	0.0098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2396.79	38	chr8	8703108	.	G	GCAAGCC	2396.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.316;DP=843;ExcessHet=0.119;FS=7.293;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.98;ReadPosRankSum=1.03;SOR=0.816	GT:AD:DP:GQ:PL	0/1:50,33:83:99:1235,0,1991	17	0	2	0
chr8	8891367	8891367	G	C	exonic	MFHAS1	.	nonsynonymous SNV	MFHAS1:NM_004225:exon1:c.C1692G:p.H564Q	Malignant fibrous histiocytoma	425	1094	3	0	0	3	0.00136924	.	.	.	2345267	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.012	0.00184350341393	0.0004	0.000199681	0.0003	0.0001	0	0	0	0.0003	0.0011	0.0010	0.0002717	42	154602	rs141836174	0.0002	0.0002	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0	4.474e-05	0.0052	0	0	0.0005	8.363e-05	0.0006	0.0011	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0002	7.287e-05	5.087e-05	2.404e-05	0	0	0.0066	0	0	0.0034	0.0001	0.0005	0.0004	0.573	0.06125	T	0.242	0.24264	T	0.002	0.09854	B	0.001	0.04355	B	0.031917	0.25103	N	0.384296	0.994859	0.23428	N	0	0.06538	N	1.43	0.32958	T	0.26	0.04380	N	0.107	0.09207	-1.0155	0.25175	T	0.022	0.09238	T	10	0.0033741295	0.00059	T	0.001844	0.03193	T	0.012	0.01476	0.24	0.17218	0.0806252709748	0.07271	0.6338972278163989	0.63323	0.204610419644	0.22881	0.474706113338	0.35329	T	0.015944	0.13275	T	-0.66153	0.00061	T	-0.76857	0.02815	T	0.00951152476903463	0.00123	T	0.583442	0.21195	T	0.024383737	0.01265	0.032953046	0.02112	0.024383737	0.01265	0.032953046	0.02112	-5.572	0.42536	T	.	.	0.075	0.05404	B	.	.	0.250666	0.06301	2.758	0.82095377030561523	0.14016	0.25689	0.22774	N	AEFDBCI	0.087567	0.17755	N	-1.43122931238038	0.02368	0.1045097	-1.35765947440002	0.03716	0.1739239	0.999991611085102	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.581341	0.30212	0	0.714379	0.83352	0	.	.	5.15	-4.21	0.03552	-0.311000	0.08164	-3.354000	0.02851	-0.712000	0.03928	0.102000	0.22834	0.000000	0.08366	0.892000	0.42986	0.5469:0.1717:0.2815:0.0	8.400	0.31740	849	0.35778	Roc 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	3328.83	40	chr8	8891367	.	G	C	3328.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.53;DP=1001;ExcessHet=0.119;FS=0.983;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=0.013;SOR=0.764	GT:AD:DP:GQ:PL	0/1:77,61:138:99:1694,0,1949	17	0	2	0
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2857	10774.2	70	chr8	10609944	.	A	G	10774.2	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-5.582;DP=4163;ExcessHet=4.0268;FS=203.216;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.357;MQ=60;MQRankSum=0;QD=5.3;ReadPosRankSum=1.08;SOR=12.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,73:240:99:0|1:10609944_A_G:1401,0,5608:10609944	6	0	8	5
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	.	.	.	.	.	.	.	.	0.045	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3125	19088.4	307	chr8	10609948	.	C	G	19088.4	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.359;DP=4756;ExcessHet=20.8569;FS=294.975;InbreedingCoeff=-0.7674;MLEAC=11;MLEAF=0.344;MQ=60;MQRankSum=0;QD=4.95;ReadPosRankSum=2.02;SOR=14.328	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:169,74:243:99:0|1:10609944_A_G:1447,0,5633:10609944	6	0	10	3
chr8	11984538	11984538	T	C	exonic	DEFB135	.	nonsynonymous SNV	DEFB135:NM_001033017:exon2:c.T182C:p.I61T	.	.	.	.	.	.	.	.	.	.	.	2250413	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.00217313436215	.	.	2.499e-05	0	0	0	0	4.508e-05	0	0	1.94e-05	3	154602	rs778893958	1.549e-05	1.71e-05	1.113e-05	1.997e-05	1.942e-05	1.014e-05	8.66e-06	1.248e-05	1.059e-05	0	0	0	0	0	0	1.942e-05	1.715e-05	0	1.314e-05	1.313e-05	1.284e-05	1.344e-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	0.834	0.02854	T	0.705	0.05622	T	0.0	0.02946	B	0.0	0.01387	B	0.001347	0.00773	N	5.123630	1	0.08975	N	.	.	.	2.91	0.10008	T	1.98	0.00416	N	0.136	0.13341	-1.0118	0.26353	T	0.011	0.04088	T	9	0.043723732	0.03252	T	0.002173	0.04071	T	0.057	0.16321	.	.	0.0611884634855	0.05136	0.19568975985601889	0.19485	0.00696279670166	0.00615	0.34618806839	0.17359	T	0.001191	0.00692	T	-0.514759	0.00472	T	-0.846741	0.01002	T	0.0494087183354607	0.05396	T	.	.	.	0.025701026	0.01537	0.039707493	0.04124	0.025701026	0.01537	0.039707493	0.04124	-1.635	0.02065	T	.	.	0.063	0.01534	B	.	.	-1.558956	0.00261	0.004	0.16010108685047517	0.00413	0.00126	0.00785	N	AEFBI	0.012020	0.00121	N	-1.64253529794663	0.01067	0.04630002	-1.73792690719391	0.00979	0.04388205	0.041135055206762	0.14471	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.34	-3.32	0.04663	-2.650000	0.00930	.	.	-0.909000	0.02273	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3417:0.2075:0.17:0.2808	0.084	0.00031	982	0.03397	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	2427.83	37	chr8	11984538	.	T	C	2427.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.76;DP=833;ExcessHet=0.119;FS=3.705;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=1.17;SOR=0.963	GT:AD:DP:GQ:PL	0/1:67,56:123:99:1363,0,1782	17	0	2	0
chr8	28780872	28780872	G	C	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon11:c.C1158G:p.H386Q,INTS9:NM_001172562:exon12:c.C1149G:p.H383Q,INTS9:NM_001363038:exon12:c.C1221G:p.H407Q,INTS9:NM_018250:exon12:c.C1221G:p.H407Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.;.	.	.	.	.	.	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.3056	808.56	107	chr8	28780872	.	G	C	808.56	.	AC=11;AF=0.306;AN=36;BaseQRankSum=-3.658;DP=1552;ExcessHet=8.9063;FS=232.795;InbreedingCoeff=-0.3979;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=-0.439;SOR=11.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,20:94:41:.:.:41,0,1588:.	7	0	11	1
chr8	32648096	32648096	G	C	exonic	NRG1	.	nonsynonymous SNV	NRG1:NM_001322205:exon1:c.G379C:p.A127P,NRG1:NM_001322206:exon1:c.G379C:p.A127P,NRG1:NM_001322207:exon1:c.G379C:p.A127P,NRG1:NM_013959:exon1:c.G379C:p.A127P	.	423	1082	17	0	0	17	0.00779459	.	.	.	2821013	not_provided|NRG1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	.	0.0065	0.00379393	0.0089	0.0016	0.0078	0.0001	0.0207	0.0120	0.0099	0.0017	0.0084669	1309	154602	rs34822181	0.0094	0.0094	0.0096	0.0092	0.0284	0.0093	0.0092	0.0249	0.0235	0.0023	0.0066	0.0188	5.038e-05	0.0217	0.0284	0.0097	0.0099	0.0017	0.0077	0.0078	0.0074	0.0081	0.0096	0.0074	0.0072	0.0090	0.0087	0.0018	0.0044	0.0082	0.0228	0	0.0207	0.0238	0.0096	0.0052	0.0017	1.0	0.00964	T	0.472	0.12176	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	2.04	0.00388	N	0.111	0.09772	-1.0376	0.18048	T	0.025	0.10509	T	8	0.0026865602	0.00042	T	.	.	.	0.053	0.14996	.	.	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.647496	0.00075	T	-0.693465	0.06191	T	0.00457160426788345	0.00049	T	0.316668	0.06305	T	.	.	.	.	.	.	.	.	-1.28	0.01369	T	.	.	0.044	0.00041	B	.;.	.;.	0.932004	0.13072	9.576	0.28607155869127171	0.01477	0.11647	0.16771	N	AEFBCI	0.067459	0.13263	N	-0.948612163328557	0.09723	0.4614725	-0.664915912530842	0.17841	0.9504233	0.999979493113776	0.50053	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.444512	0.06955	0	.	.	6.07	4.27	0.50009	1.347000	0.33580	0.431000	0.18324	-0.819000	0.02980	1.000000	0.71638	0.987000	0.30940	0.883000	0.42306	0.0:0.6824:0.2517:0.066	10.477	0.43856	703	0.57489	.;.	.	.	.	.	.	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	0.029204	0.035354	0.024457	0.078947	0.000000	0.025862	0.012195	0.011364	0.02632	2489.33	33	chr8	32648096	.	G	C	2489.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.122;DP=845;ExcessHet=0;FS=1.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.319;SOR=0.852	GT:AD:DP:GQ:PL	0/1:105,95:200:99:2503,0,2683	18	0	1	0
chr8	36833658	36833658	C	T	exonic	KCNU1	.	nonsynonymous SNV	KCNU1:NM_001031836:exon11:c.C1211T:p.A404V	.	436	1085	1	0	0	1	0.000460617	0.0005	0.046	.	2761481	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.150	0.0844859794775	8.3e-05	0.000399361	0.0006	0.0003	8.777e-05	0	0.0005	0.0004	0	0.0019	0.0004592	71	154602	rs189044708	0.0003	0.0003	0.0003	0.0004	0.0019	0.0003	0.0003	0.0017	0.0016	0.0002	0.0001	0	0	0.0008	0.0002	0.0002	0.0004	0.0019	0.0004	0.0004	0.0003	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	0.0001	0	0.0009	0	0	0.0007	0	0.0004	0	0.0017	0.005	0.63226	D	0.027	0.55341	D	0.462	0.36386	P	0.035	0.22741	B	0.344552	0.13911	U	0.509402	0.881969	0.28033	N	2.44	0.70756	M	-0.46	0.70014	T	-1.81	0.42575	N	0.083	0.05929	-0.8040	0.54909	T	0.188	0.53812	T	10	0.02640742	0.00808	T	0.084486	0.74337	D	0.150	0.39571	.	.	0.613025245597	0.60990	0.3458766754838928	0.34501	0.023310643868	0.02366	0.38961777091	0.23616	T	0.193757	0.54932	T	-0.43051	0.01472	T	-0.404405	0.32872	T	0.0311967996687215	0.02177	T	0.711029	0.32195	T	0.11596821	0.27358	0.08475717	0.19520	0.11596821	0.27358	0.08475717	0.19519	-8.715	0.65844	D	.	.	0.224	0.45581	B	.	.	2.978347	0.39716	21.0	0.99261518873142762	0.57222	0.77717	0.38245	D	AEFI	0.175856	0.30305	N	-0.344220752918873	0.27485	1.508327	-0.29815454945013	0.28159	1.567869	6.90509386661164E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.32	3.51	0.39297	0.587000	0.23611	1.802000	0.28890	-1.030000	0.01696	0.998000	0.41325	1.000000	0.68203	0.111000	0.18785	0.1424:0.5022:0.2767:0.0786	4.734	0.12355	804	0.43891	.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1914.33	34	chr8	36833658	.	C	T	1914.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=797;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-0.832;SOR=0.686	GT:AD:DP:GQ:PL	0/1:95,78:173:99:1928,0,2197	18	0	1	0
chr8	47966202	47966202	T	C	exonic	MCM4	.	nonsynonymous SNV	MCM4:NM_005914:exon8:c.T848C:p.I283T,MCM4:NM_182746:exon9:c.T848C:p.I283T	Natural killer cell and glucocorticoid deficiency with DNA repair defect, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	899707	Primary_immunodeficiency_with_natural-killer_cell_deficiency_and_adrenal_insufficiency|not_provided	MONDO:MONDO:0012383,MedGen:C1864947,OMIM:609981,Orphanet:75391|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.542	0.062150385899	0.0005	0.000399361	0.0008	0	0.0003	0	0	0.0012	0	0.0005	0.0007438	115	154602	rs149232439	0.0006	0.0006	0.0006	0.0006	0.0035	0.0005	0.0005	0.0023	0.0019	0.0001	0.0003	0	0	3.752e-05	0.0035	0.0006	0.0007	0.0007	0.0005	0.0005	0.0005	0.0006	0.0013	0.0005	0.0004	0.0009	0.0007	0.0001	0	0.0013	0	0	0	0.0034	0.0007	0.0005	0.0012	0.001	0.78490	D	0.002	0.79402	D	0.994	0.66517	D	0.951	0.68939	D	0.000000	0.84330	D	0.041854	1	0.81001	D	2.92	0.84325	M	3.39	0.05710	T	-4.26	0.76174	D	0.97	0.98563	-1.0737	0.08619	T	0.074	0.29834	T	10	0.18772021	0.34296	T	0.06215	0.68562	D	0.542	0.80901	.	.	0.439763647824	0.43599	0.7547359207215868	0.75420	0.563519734359	0.52780	0.880246162415	0.93994	D	0.301128	0.67359	T	-0.0621376	0.42571	T	0.097434	0.76737	D	0.118964632914876	0.14328	T	0.941906	0.93484	D	0.8738492	0.89168	0.80719835	0.88722	0.8738492	0.89169	0.80719835	0.88723	-10.144	0.74769	D	0.5346669223398626	0.60509	0.712	0.74363	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.719434	0.75895	26.4	0.9978155322729827	0.86867	0.97930	0.78210	D	AEFDGBCI	0.917534	0.88528	D	0.840267493235919	0.88546	9.619494	0.797408087815373	0.89612	10.04759	0.999999999999968	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	7.340000	0.78530	7.872000	0.72015	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	16.124	0.81187	542	0.72843	.;.;MCM OB domain;.;MCM OB domain;MCM OB 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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1735.33	33	chr8	47966202	.	T	C	1735.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.431;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.304;SOR=0.725	GT:AD:DP:GQ:PL	0/1:76,70:146:99:1749,0,1881	18	0	1	0
chr8	53811171	53811171	G	A	exonic	ATP6V1H	.	nonsynonymous SNV	ATP6V1H:NM_015941:exon7:c.C572T:p.S191L,ATP6V1H:NM_213620:exon7:c.C572T:p.S191L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00368913772859	.	0.000399361	4.947e-05	0	0	0	0	0	0	0.0004	5.17e-05	8	154602	rs576327305	1.575e-05	1.573e-05	1.226e-05	1.926e-05	0.0003	1.049e-05	8.76e-06	0.0001	0.0001	0	0	0	0	1.873e-05	0.0003	8.999e-07	1.657e-05	0.0002	1.313e-05	1.312e-05	0	2.686e-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	0.156	0.26085	T	0.227	0.25362	T	0.0	0.02946	B	0.001	0.04355	B	0.001649	0.38382	N	0.286484	0.999715	0.81001	D	0	0.06538	N	.	.	.	-0.66	0.19085	N	0.33	0.37093	-1.0242	0.22344	T	0.122	0.42441	T	9	0.08694765	0.14830	T	0.003689	0.08527	T	0.078	0.22779	0.492	0.57890	0.462111473445	0.45839	0.12080178653282617	0.12007	0.229102546362	0.25472	0.513204276562	0.40670	T	0.12107	0.44376	T	-0.24273	0.15003	T	-0.294293	0.45325	T	0.256279713508656	0.23151	T	0.959804	0.84855	D	0.123047374	0.28901	0.10573096	0.25422	0.123047374	0.28901	0.10573096	0.25421	-3.617	0.18103	T	.	.	0.082	0.08754	B	.;.;.	.;.;.	4.317837	0.66058	24.9	0.99701177214089487	0.80660	0.99567	0.97521	D	AEFDBI	0.897971	0.84073	D	0.0142074355150678	0.42500	2.561979	0.246440889709412	0.52448	3.419479	0.999999998385064	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.38	5.38	0.77279	8.545000	0.90462	11.888000	0.99015	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.120	0.89499	822	0.40702	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1261.33	34	chr8	53811171	.	G	A	1261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.038;DP=733;ExcessHet=0;FS=0.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-1.212;SOR=0.617	GT:AD:DP:GQ:PL	0/1:58,51:109:99:1275,0,1445	18	0	1	0
chr8	65605453	65605453	A	C	exonic	ARMC1	.	nonsynonymous SNV	ARMC1:NM_001286702:exon4:c.T245G:p.V82G,ARMC1:NM_018120:exon5:c.T551G:p.V184G	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.624	0.0894046239236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.78490	D	0.005	0.79402	D	0.791	0.44643	P	0.255	0.39216	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.14	0.59869	M	0.8	0.48769	T	-3.18	0.72820	D	0.549	0.57518	-0.4331	0.70964	T	0.298	0.66933	T	10	0.6461297	0.69336	D	0.089405	0.75321	D	0.624	0.85459	0.373	0.38503	0.498282089621	0.49464	0.7623544563466883	0.76183	0.894811532666	0.70413	0.713670611382	0.69125	T	0.28431	0.65708	T	0.297678	0.82783	D	0.189818	0.82559	D	0.915910669193468	0.57312	D	0.923008	0.72857	D	0.6226336	0.73904	0.662655	0.80228	0.6226336	0.73905	0.662655	0.80229	-14.435	0.94385	D	.	.	0.985	0.92844	P	.;.;.	.;.;.	4.845638	0.79160	27.0	0.99172193949083176	0.54412	0.99056	0.90582	D	AEFDBI	0.902963	0.85148	D	0.662142161980923	0.77157	6.620899	0.6841559616919	0.81174	7.465843	0.99999428078618	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	8.818000	0.91619	11.051000	0.85300	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.548	0.75856	726	0.54788	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2481.33	42	chr8	65605453	.	A	C	2481.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.421;DP=883;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-0.317;SOR=0.731	GT:AD:DP:GQ:PL	0/1:96,98:194:99:2495,0,2505	18	0	1	0
chr8	66493691	66493691	G	C	exonic	VXN	.	nonsynonymous SNV	VXN:NM_152765:exon1:c.G43C:p.V15L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.00547327237093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.979e-06	0.0002	9.631e-06	8.323e-06	1.164e-05	5.01e-06	3.86e-06	5.37e-06	3.92e-06	0	0	0	0	0	0	1e-05	1.668e-05	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.116	0.92824	T	0.996	0.90584	D	0.99	0.82059	D	0.000007	0.62929	D	0.000000	0.99932	0.46670	D	.	.	.	.	.	.	-2.35	0.57762	N	0.725	0.82964	-0.6318	0.63494	T	0.303	0.67409	T	9	0.5419149	0.63768	D	0.005473	0.14075	T	0.219	0.51417	0.234	0.16305	0.658285377725	0.65543	0.48710170484580395	0.48630	1.31309391701	0.83265	.	.	.	0.114249	0.49642	T	0.245393	0.78169	D	0.114713	0.77885	D	0.835849516035111	0.48992	D	0.837516	0.52137	T	0.58112	0.71669	0.61174595	0.77411	0.58112	0.71670	0.61174595	0.77412	-3.202	0.12505	T	.	.	0.979	0.91928	P	.;.;.;.	.;.;.;.	4.230900	0.64072	24.7	0.99840759444709359	0.92143	0.98639	0.85009	D	AEFGBHI	0.812472	0.73519	D	0.712960435504671	0.80482	7.303924	0.757067553857114	0.86685	8.968818	0.999999999869192	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	5.98	0.97147	6.429000	0.73312	11.673000	0.94126	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.639	0.91344	632	0.64850	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2778	544.08	93	chr8	66493691	.	G	C	544.08	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-2.074;DP=1191;ExcessHet=6.9875;FS=128.3;InbreedingCoeff=-0.3756;MLEAC=10;MLEAF=0.278;MQ=59.61;MQRankSum=-0.015;QD=0.89;ReadPosRankSum=1.58;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,11:62:72:0|1:66493691_G_C:72,0,1615:66493691	8	0	10	1
chr8	66493692	66493692	T	C	exonic	VXN	.	nonsynonymous SNV	VXN:NM_152765:exon1:c.T44C:p.V15A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.00390689999083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.377e-06	2.535e-05	2.741e-06	0	1.811e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.811e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.157	0.92824	T	0.998	0.90584	D	0.99	0.84481	D	0.000007	0.62929	D	0.000000	0.998847	0.45546	D	.	.	.	.	.	.	-2.64	0.66325	D	0.744	0.88246	-0.6284	0.63639	T	0.286	0.65773	T	9	0.5246484	0.62839	D	0.003907	0.09211	T	0.217	0.51112	0.36	0.36385	0.451585352066	0.44779	0.5005733432488454	0.49978	1.46053770345	0.86340	.	.	.	0.114249	0.49518	T	0.205547	0.74412	D	0.0574777	0.74077	D	0.892442107348041	0.54353	D	0.734227	0.36032	T	0.57360226	0.71258	0.56530106	0.74840	0.57360226	0.71259	0.56530106	0.74841	-3.33	0.15245	T	.	.	0.980	0.92305	P	.;.;.;.	.;.;.;.	3.949088	0.57843	23.9	0.99880771886591968	0.95733	0.97771	0.77014	D	AEFGBHI	0.663003	0.63267	D	0.602656974322728	0.73343	5.950544	0.643093491109605	0.78099	6.808267	0.999999995810959	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	5.98	0.97147	5.120000	0.64523	7.788000	0.68824	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.049	0.71519	632	0.64850	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	70.83	35	chr8	66493692	.	T	C	70.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.271;DP=811;ExcessHet=0.119;FS=54.476;InbreedingCoeff=-0.0554;MLEAC=2;MLEAF=0.053;MQ=59.45;MQRankSum=-1.204;QD=0.71;ReadPosRankSum=1.14;SOR=6.05	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,11:62:72:0|1:66493691_G_C:72,0,1615:66493691	17	0	2	0
chr8	66961531	66961531	C	G	exonic	TCF24	.	nonsynonymous SNV	TCF24:NM_001193502:exon3:c.G235C:p.V79L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403603721773	.	.	9.332e-05	0	0	0	.	0	0	0.0001	6.5e-06	1	154602	rs538845993	8.099e-06	7.524e-06	7.266e-06	8.954e-06	2.614e-05	4.35e-06	3.18e-06	4.34e-06	2.33e-06	0	0	0	0	0	0	7.486e-06	1.76e-05	2.614e-05	6.576e-06	6.567e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999505	0.47320	D	0.68	0.16426	N	-2.17	0.86624	D	-3.0	0.62343	D	0.604	0.62188	.	.	.	.	.	.	.	0.69105816	0.71858	D	0.403604	0.93450	D	.	.	.	.	0.792249739881	0.79031	0.5757726108060812	0.57506	.	.	0.92461514473	0.98654	D	0.593251	0.86855	D	0.108586	0.65205	D	0.0655273	0.74611	D	.	.	.	0.89491	0.63503	D	0.61098397	0.73280	0.5465994	0.73790	0.61098397	0.73281	0.5465994	0.73790	-11.153	0.80490	D	.	.	0.976	0.90447	P	.	.	5.554693	0.92082	32	0.9972002842364357	0.81984	0.98472	0.83137	D	AEFDGBCI	0.938142	0.93691	D	.	.	.	.	.	.	1.0	0.98316	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	5.23	5.23	0.72570	7.832000	0.84935	7.605000	0.61698	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.849000	0.40138	0.0:1.0:0.0:0.0	18.378	0.90385	804	0.43891	Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) 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	0.002066	0.006250	0.003759	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	608.33	35	chr8	66961531	.	C	G	608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.954;DP=701;ExcessHet=0;FS=2.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-0.24;SOR=0.357	GT:AD:DP:GQ:PL	0/1:35,25:60:99:622,0,810	18	0	1	0
chr8	86064186	86064186	C	T	exonic	PSKH2	.	nonsynonymous SNV	PSKH2:NM_033126:exon2:c.G631A:p.G211R	.	433	1072	17	0	0	17	0.00786673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0113747549953	0.0007	0.00139776	0.0013	0.0003	0.0006	0.0001	0.0002	0.0013	0	0.0038	0.0012225	189	154602	rs36074412	0.0009	0.0009	0.0008	0.0011	0.0109	0.0009	0.0009	0.0088	0.0080	0.0005	0.0008	0.0001	5.038e-05	1.872e-05	0.0109	0.0007	0.0017	0.0042	0.0008	0.0008	0.0007	0.0008	0.0037	0.0007	0.0006	0.0024	0.0020	0.0003	0	0.0005	0	0.0004	0	0.0068	0.0011	0.0024	0.0037	1.0	0.00964	T	0.644	0.06881	T	0.078	0.24389	B	0.023	0.19966	B	.	.	.	.	0.615365	0.32658	D	1.05	0.26816	L	-0.13	0.64818	T	0.89	0.01641	N	0.144	0.14480	-0.9096	0.46904	T	0.121	0.42187	T	9	0.004502952	0.00093	T	0.011375	0.28926	T	0.023	0.04649	0.206	0.12216	0.658254632336	0.65539	0.3271381259269111	0.32626	0.0922326858659	0.10410	0.397369801998	0.24703	T	4.92E-4	0.00182	T	-0.477942	0.00760	T	-0.459451	0.26660	T	0.0143551746311601	0.00287	T	0.847115	0.52772	T	0.16087216	0.36058	0.2331823	0.48500	0.16087216	0.36058	0.2331823	0.48499	-2.9	0.09143	T	.	.	0.103	0.18580	B	.	.	2.227871	0.28438	17.80	0.78265554204685328	0.12226	0.62259	0.31727	D	AEFBI	0.157864	0.28344	N	-0.358722249567327	0.26953	1.475029	-0.173423857418489	0.32518	1.850816	0.999506762128994	0.40062	0.487112	0.14033	0	0.573888	0.26702	0	0.315538	0.05692	2	0.542086	0.14980	0	.	.	5.1	4.22	0.49153	1.392000	0.34095	2.967000	0.35781	0.599000	0.40250	0.962000	0.33725	0.992000	0.31684	0.993000	0.69303	0.0:0.9109:0.0:0.0891	11.380	0.48995	487	0.76954	Protein kinase domain|Protein kinase 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	0.005539	0.000000	0.005435	0.008772	0.000000	0.008621	0.006098	0.007576	0.02632	2327.33	42	chr8	86064186	.	C	T	2327.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.11;DP=865;ExcessHet=0;FS=0.57;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-1.093;SOR=0.787	GT:AD:DP:GQ:PL	0/1:83,85:168:99:2341,0,1925	18	0	1	0
chr8	86939676	86939676	C	T	exonic	CNBD1	.	nonsynonymous SNV	CNBD1:NM_173538:exon4:c.C353T:p.A118V	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0419412673061	.	.	4.156e-05	0	0	0	0	1.504e-05	0	0.0002	3.23e-05	5	154602	rs772737111	1.314e-05	1.437e-05	6.884e-06	1.944e-05	0.0001	8.4e-06	6.77e-06	5.485e-05	4.106e-05	6.061e-05	0	0	0	0	0	7.268e-06	0	0.0001	6.576e-06	6.569e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.843	0.02789	T	0.0	0.92824	D	0.02	0.18235	B	0.008	0.13708	B	0.053815	0.22777	N	0.368557	1	0.08975	N	0.895	0.22405	L	-4.09	0.96627	D	-0.13	0.08971	N	0.169	0.17966	-0.1472	0.78985	T	0.739	0.91080	D	10	0.03512308	0.01747	T	0.041941	0.60201	D	0.095	0.27398	0.208	0.12497	0.229264304666	0.22521	0.14531871723474984	0.14454	0.00484473599278	0.00428	0.299124121666	0.10271	T	0.00611	0.05549	T	-0.221598	0.17776	T	-0.35058	0.39139	T	0.0322410144546681	0.02345	T	0.456254	0.13085	T	0.021773446	0.00799	0.023994198	0.00414	0.021773446	0.00798	0.023994198	0.00414	-2.954	0.09694	T	.	.	0.145	0.31882	B	.	.	0.010189	0.04355	1.114	0.57861236346206424	0.05863	0.01053	0.03920	N	AEFI	0.025763	0.01820	N	-0.886401477503169	0.11165	0.5373562	-0.942137249410816	0.11106	0.5637781	2.90415487462138E-4	0.06355	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.89	1.24	0.20416	0.058000	0.14178	-0.209000	0.10871	0.539000	0.25131	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	0.2265:0.3606:0.0:0.4129	2.358	0.04038	715	0.56137	.	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	634.33	34	chr8	86939676	.	C	T	634.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.252;DP=703;ExcessHet=0;FS=1.959;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=0.909;SOR=0.483	GT:AD:DP:GQ:PL	0/1:47,28:75:99:648,0,1370	18	0	1	0
chr8	103402018	103402018	C	T	exonic	SLC25A32	.	nonsynonymous SNV	SLC25A32:NM_030780:exon5:c.G589A:p.A197T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.789	0.174619859883	.	.	8.384e-06	0	0	0	0	0	0	6.177e-05	6.5e-06	1	154602	rs778879763	2.738e-06	3.42e-06	2.725e-06	2.752e-06	4.651e-05	6.4e-07	4.3e-07	1.586e-05	9.32e-06	0	0	0	0	0	0	0	0	4.651e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.002	0.79402	D	0.999	0.77913	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.59	0.75718	M	-1.6	0.82165	D	-3.38	0.66780	D	0.825	0.82057	0.401	0.89113	D	0.709	0.89999	D	10	0.8955616	0.88909	D	0.17462	0.85095	D	0.789	0.93028	0.755	0.88484	0.979426274884	0.97920	0.8492950455976853	0.84891	1.01352011035	0.74854	0.624949455261	0.56428	T	0.443583	0.78732	T	0.242703	0.77917	D	0.292377	0.87817	D	0.955321907997131	0.64480	D	0.950005	0.80823	D	0.65078944	0.75407	0.6554881	0.79829	0.65078944	0.75408	0.6554881	0.79830	-10.519	0.76956	D	0.5621440318047725	0.62983	0.738	0.78314	P	.;.	.;.	5.118146	0.85593	28.6	0.999277808598105	0.99163	0.98917	0.88597	D	AEFBI	0.868132	0.78814	D	0.789683568301379	0.85456	8.58135	0.771789943803004	0.87772	9.33938	0.99999999999986	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.43	5.43	0.79006	7.388000	0.79070	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	19.233	0.93833	320	0.86992	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	972.33	33	chr8	103402018	.	C	T	972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.384;DP=680;ExcessHet=0;FS=3.453;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=0.707;SOR=0.377	GT:AD:DP:GQ:PL	0/1:25,41:66:99:986,0,574	18	0	1	0
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N,EFR3A:NM_001323554:exon23:c.G2334C:p.K778N,EFR3A:NM_001323555:exon23:c.G2334C:p.K778N,EFR3A:NM_001323556:exon23:c.G2334C:p.K778N,EFR3A:NM_001323557:exon23:c.G2334C:p.K778N,EFR3A:NM_015137:exon23:c.G2442C:p.K814N,EFR3A:NM_001323558:exon24:c.G2493C:p.K831N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.375	899.74	179	chr8	132010871	.	G	C	899.74	.	AC=12;AF=0.375;AN=32;BaseQRankSum=-2.931;DP=2730;ExcessHet=11.1788;FS=198.961;InbreedingCoeff=-0.5515;MLEAC=13;MLEAF=0.406;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=1.12;SOR=12.747	GT:AD:DP:GQ:PL	0/1:97,38:139:82:82,0,1345	4	0	12	3
chr8	132804005	132804005	G	C	exonic	PHF20L1	.	nonsynonymous SNV	PHF20L1:NM_001277196:exon6:c.G616C:p.D206H,PHF20L1:NM_001362971:exon6:c.G616C:p.D206H,PHF20L1:NM_198513:exon6:c.G616C:p.D206H,PHF20L1:NM_016018:exon7:c.G694C:p.D232H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1538	205.76	51	chr8	132804005	.	G	C	205.76	.	AC=4;AF=0.154;AN=26;BaseQRankSum=-2.755;DP=1004;ExcessHet=0.7564;FS=127.828;InbreedingCoeff=-0.2588;MLEAC=5;MLEAF=0.192;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=0.111;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,9:56:33:0|1:132804005_G_C:33,0,1785:132804005	9	0	4	6
chr8	143538164	143538164	C	G	exonic	ZC3H3	.	nonsynonymous SNV	ZC3H3:NM_015117:exon2:c.G1203C:p.K401N	.	393	1085	41	3	0	47	0.0211998	.	.	.	1671780	not_provided|Decreased_total_neutrophil_count|Decreased_total_lymphocyte_count	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001875,Human_Phenotype_Ontology:HP:0005515,Human_Phenotype_Ontology:HP:0005533,MONDO:MONDO:0001475,MedGen:C0853697|Human_Phenotype_Ontology:HP:0001888,MONDO:MONDO:0003783,MedGen:C0024312	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.070	.	0.0040	0.00239617	0.0044	0.0010	0.0035	0	0.0006	0.0063	0.0078	0.0028	0.0043984	680	154602	rs145312531	0.0050	0.0050	0.0050	0.0050	0.0161	0.0049	0.0049	0.0135	0.0125	0.0008	0.0032	0.0108	2.519e-05	0.0005	0.0161	0.0055	0.0049	0.0032	0.0042	0.0042	0.0045	0.0039	0.0061	0.0040	0.0039	0.0057	0.0055	0.0008	0.0912	0.0029	0.0110	0	0.0003	0.0102	0.0061	0.0080	0.0015	0.001	0.78490	D	0.215	0.26306	T	0.651	0.40707	P	0.198	0.36766	B	0.146865	0.18099	N	0.533225	1	0.08975	N	1.975	0.53506	M	3.81	0.03754	T	-1.55	0.37566	N	0.261	0.29544	-1.0261	0.21723	T	0.012	0.04510	T	10	0.0025629401	0.00039	T	.	.	.	0.070	0.20419	0.132	0.03662	0.043077524339	0.03247	0.19101010069573193	0.19019	.	.	0.350995391607	0.18068	T	0.029869	0.21306	T	-0.632085	0.00093	T	-0.676997	0.07168	T	0.0164832262250993	0.00413	T	0.735226	0.35154	T	0.13179666	0.30709	0.11634667	0.28087	0.13179666	0.30709	0.11634667	0.28087	-5.937	0.45749	T	.	.	0.379	0.58369	A	.	.	2.450788	0.31553	18.78	0.99737924929366029	0.83264	0.37660	0.25812	N	AEFGBCI	0.097974	0.19752	N	-0.183606738135059	0.33816	1.922929	-0.223506323144549	0.30694	1.730533	0.999950641709415	0.48110	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.76	2.58	0.30011	0.536000	0.22838	.	.	0.599000	0.40250	0.002000	0.15269	0.999000	0.35428	0.798000	0.37648	0.0:0.7414:0.0:0.2586	9.487	0.38102	970	0.06235	.	.	.	.	.	.	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	0.012588	0.000000	0.019022	0.008772	0.000000	0.000000	0.015244	0.015152	0.1316	4663.35	42	chr8	143538164	.	C	G	4663.35	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.343;DP=874;ExcessHet=0.0506;FS=0.931;InbreedingCoeff=0.3091;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=-0.338;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,75:75:99:.:.:2297,225,0:.	15	1	3	0
chr8	143707077	143707077	C	T	exonic	CCDC166	.	nonsynonymous SNV	CCDC166:NM_001162914:exon2:c.G937A:p.V313M	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	0.000199681	0.0039	0	0	0	0	0.0126	0	0.0011	0.0005045	78	154602	rs550230095	0.0013	0.0012	0.0013	0.0013	0.0027	0.0013	0.0012	0.0017	0.0013	6.395e-05	0.0014	0.0169	0	0.0002	0.0027	0.0010	0.0026	0.0007	0.0013	0.0013	0.0013	0.0013	0.0019	0.0011	0.0011	0.0014	0.0012	0.0002	0	0.0019	0.0161	0	0	0.0137	0.0014	0.0010	0.0002	0.214	0.19361	T	0.026	0.55759	D	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.32	0.33002	L	.	.	.	-0.32	0.12283	N	0.036	0.01068	-1.0347	0.18951	T	0.058	0.24242	T	8	0.002822101	0.00045	T	.	.	.	0.008	0.00669	.	.	0.0138822411134	0.00435	0.06476136050439223	0.06415	.	.	0.542966485023	0.44865	T	0.002885	0.02278	T	-0.616971	0.00115	T	-0.672242	0.07465	T	0.0257512569039736	0.01373	T	0.439156	0.12095	T	0.029703448	0.02508	0.053213052	0.08918	0.029703448	0.02508	0.053213052	0.08918	-4.93	0.36071	T	.	.	0.104	0.19032	B	.	.	0.224233	0.06063	2.505	0.96856708232205846	0.31365	0.03870	0.09234	N	AEFDBCI	0.041409	0.06292	N	-1.28544525554201	0.03850	0.172726	-1.34125014427368	0.03910	0.1833591	0.984836030559956	0.30783	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.03	-1.85	0.07363	-0.255000	0.08789	.	.	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4315:0.1571:0.4114	6.609	0.21936	912	0.21483	.	.	.	.	.	.	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	0.004399	0.000000	0.000000	0.014563	0.000000	0.000000	0.000000	0.000000	0.07895	4718.77	34	chr8	143707077	.	C	T	4718.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.81;DP=807;ExcessHet=0;FS=0.706;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=24.08;ReadPosRankSum=0.323;SOR=0.809	GT:AD:DP:GQ:PL	1/1:1,101:102:99:3259,295,0	17	1	1	0
chr8	143925059	143925059	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.C4828T:p.R1610C,PLEC:NM_201379:exon31:c.C4804T:p.R1602C,PLEC:NM_201380:exon31:c.C5281T:p.R1761C,PLEC:NM_201381:exon31:c.C4774T:p.R1592C,PLEC:NM_201382:exon31:c.C4870T:p.R1624C,PLEC:NM_201383:exon31:c.C4882T:p.R1628C,PLEC:NM_201384:exon31:c.C4870T:p.R1624C,PLEC:NM_000445:exon32:c.C4951T:p.R1651C	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	3	1518	1	0	0	1	0.000329272	.	.	.	491388	not_specified|not_provided|Inborn_genetic_diseases|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_with_nail_dystrophy	MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.405	0.588818851652	.	.	6.108e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs782663079	3.955e-05	4.104e-05	4.265e-05	3.638e-05	8.728e-05	3.111e-05	2.791e-05	4.019e-05	2.824e-05	3.144e-05	0	0	8.306e-05	0	0	3.693e-05	6.891e-05	8.728e-05	2.635e-05	2.63e-05	2.576e-05	2.697e-05	4.416e-05	8.16e-06	5.15e-06	1.172e-05	6.25e-06	2.424e-05	0	0	0	0	0	0	4.416e-05	0	0	0.01	0.59928	D	0.007	0.72224	D	1.0	0.90584	D	0.992	0.86255	D	0.000023	0.55875	U	0.000000	0.999997	0.58761	D	2.62	0.76659	M	-1.3	0.80983	T	-2.75	0.59545	D	0.627	0.67477	0.314	0.87775	D	0.637	0.87317	D	10	0.6821116	0.71342	D	0.588819	0.96341	D	0.405	0.71791	0.18	0.08751	0.762374762484	0.76020	0.5906601456595366	0.58996	.	.	0.855174481869	0.90393	D	0.401956	0.75912	T	-0.0465483	0.44969	T	-0.0303402	0.68347	D	0.305784380321109	0.25241	T	0.998	0.99100	D	0.19153789	0.40785	0.08736243	0.20302	0.19153789	0.40785	0.08736243	0.20301	-10.794	0.78516	D	0.7289092363660911	0.81049	0.546	0.66601	A	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.887039	0.80198	27.3	0.99422019275229701	0.63838	0.91837	0.54370	D	AEFDGBCI	0.699441	0.65679	D	0.41997544465555	0.62520	4.469345	0.301164039778683	0.55609	3.72372	0.999999999892568	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.71	4.71	0.59010	3.546000	0.53409	.	.	0.653000	0.53440	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.0:0.8316:0.1684	12.400	0.54743	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	3460.77	54	chr8	143925059	.	G	A	3460.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.91;DP=1042;ExcessHet=0;FS=3.292;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=22.47;ReadPosRankSum=2.59;SOR=0.455	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2643,246,0	17	1	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	5413.13	34	chr9	117371	.	C	*	5413.13	.	AC=7;AF=0.184;AN=38;BaseQRankSum=1.27;DP=562;ExcessHet=0.5308;FS=2.672;InbreedingCoeff=0.1364;MLEAC=7;MLEAF=0.184;MQ=45.91;MQRankSum=-4.389;QD=13.04;ReadPosRankSum=0.019;SOR=0.931	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,14:25:99:.:.:903,353,424:.	13	1	5	0
chr9	2645645	2645645	A	G	exonic	VLDLR	.	nonsynonymous SNV	VLDLR:NM_001322225:exon9:c.A1261G:p.I421V,VLDLR:NM_001322226:exon9:c.A1261G:p.I421V,VLDLR:NM_001018056:exon10:c.A1384G:p.I462V,VLDLR:NM_003383:exon10:c.A1384G:p.I462V	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0302226691851	.	.	1.647e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs770913305	3.42e-06	3.42e-06	4.084e-06	2.75e-06	0.0002	1e-06	7.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0.0002	0	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.28148	T	0.179	0.29540	T	0.126	0.32852	B	0.094	0.37572	B	0.000048	0.53742	D	0.000000	0.997039	0.44019	D	-0.695	0.01866	N	-2.75	0.90792	D	0.42	0.03352	N	0.221	0.31140	-0.0042	0.82169	T	0.526	0.82380	D	10	0.22044101	0.38740	T	0.030223	0.52582	D	0.348	0.66956	0.353	0.35246	0.677873887768	0.67513	0.3531276897412376	0.35226	0.092802932358	0.10482	0.605734944344	0.53715	T	0.071146	0.34135	T	-0.0962783	0.37041	T	-0.139405	0.60169	T	0.195474455378285	0.20162	T	0.912409	0.68863	D	0.053821295	0.10240	0.086027846	0.19904	0.053821295	0.10240	0.086027846	0.19903	-4.69	0.33956	T	0.18541029549671084	0.24091	0.083	0.09385	B	.;.	.;.	3.003015	0.40130	21.1	0.99639747545584478	0.76571	0.95224	0.63898	D	AEDGBHCI	0.679164	0.64329	D	0.045906771701356	0.43953	2.678419	0.274458908820671	0.54053	3.571468	0.99999999998456	0.74766	0.706548	0.73137	0	0.616935	0.53198	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	6.07	6.07	0.98675	5.931000	0.69831	11.299000	0.92274	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.629	0.84866	697	0.58201	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1599.33	78	chr9	2645645	.	A	G	1599.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=865;ExcessHet=0;FS=2.441;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-0.154;SOR=0.923	GT:AD:DP:GQ:PL	0/1:53,59:112:99:1613,0,1441	18	0	1	0
chr9	19126126	19126126	G	C	exonic	PLIN2	.	nonsynonymous SNV	PLIN2:NM_001122:exon3:c.C214G:p.L72V	.	432	1037	46	7	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	.	0.0048	0.00778754	0.0078	0.0007	0.0029	0	0.0003	0.0063	0.0100	0.0292	0.0069986	1082	154602	rs149124591	0.0049	0.0049	0.0040	0.0058	0.0279	0.0048	0.0048	0.0270	0.0266	0.0003	0.0032	0.0328	5.04e-05	0.0004	0.0206	0.0028	0.0072	0.0279	0.0039	0.0039	0.0037	0.0041	0.0269	0.0036	0.0035	0.0232	0.0218	0.0006	0	0.0041	0.0268	0	0.0003	0.0102	0.0039	0.0043	0.0269	0.003	0.78490	D	0.004	0.92824	D	0.974	0.57829	D	0.974	0.73157	D	0.001185	0.39899	N	0.221461	0.998758	0.45389	D	3.42	0.91902	M	2.47	0.14783	T	-2.37	0.61580	N	0.817	0.81261	-0.7969	0.55327	T	0.107	0.39051	T	10	0.010061443	0.00225	T	.	.	.	0.396	0.71084	.	.	0.659526208185	0.65667	0.7646046571490274	0.76409	0.252766109563	0.27842	0.538249135017	0.44198	T	0.349394	0.71725	T	-0.151012	0.28154	T	0.0305767	0.72315	D	0.0698357970993575	0.08628	T	0.978169	0.92312	D	0.2263921	0.45320	0.27991867	0.53964	0.2263921	0.45320	0.27991867	0.53963	-9.252	0.69305	D	.	.	0.193	0.46631	B	.;.;.;.	.;.;.;.	6.398484	0.95145	34	0.99827297879109511	0.90939	0.97207	0.73322	D	ALL	0.681205	0.64464	D	0.714991296709042	0.80615	7.333665	0.628639343559016	0.77029	6.601281	0.999999717361203	0.74766	0.645754	0.44609	0	0.672317	0.65289	0	0.696144	0.63334	0	0.638787	0.57140	0	.	.	5.54	3.37	0.37692	5.688000	0.67889	4.196000	0.42436	-0.198000	0.09030	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.152:0.0:0.848:0.0	13.145	0.58873	681	0.59854	.;.;.;.	.	.	.	.	.	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	0.015609	0.005051	0.017663	0.002924	0.050000	0.017241	0.021341	0.034091	0.1316	6749.37	33	chr9	19126126	.	G	C	6749.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.803;DP=1092;ExcessHet=1.3;FS=1.104;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.99;SOR=0.789	GT:AD:DP:GQ:PL	0/1:49,47:96:99:1307,0,1479	14	0	5	0
chr9	33465786	33465786	G	A	exonic	NOL6	.	nonsynonymous SNV	NOL6:NM_022917:exon19:c.C2476T:p.R826C	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0173930030548	0.0012	0.000399361	0.0012	0.0006	0.0008	0	0.0007	0.0016	0.0012	0.0010	0.0011643	180	154602	rs115142129	0.0018	0.0018	0.0018	0.0018	0.0021	0.0017	0.0017	0.0020	0.0020	0.0004	0.0005	0	2.52e-05	0.0005	0.0003	0.0021	0.0014	0.0010	0.0013	0.0013	0.0013	0.0013	0.0022	0.0012	0.0011	0.0020	0.0018	0.0006	0	0.0008	0	0	0.0004	0	0.0022	0.0009	0.0010	0.109	0.31383	T	0.106	0.37872	T	0.002	0.09854	B	0.0	0.01387	B	0.411818	0.12987	N	0.760397	0.92254	0.36721	D	1.87	0.49600	L	0.94	0.43672	T	-1.89	0.51157	N	0.223	0.25006	-1.0174	0.24560	T	0.097	0.36341	T	10	0.02312702	0.00596	T	0.017393	0.39069	T	0.076	0.22200	.	.	0.200294437569	0.19612	.	.	0.258625416402	0.28424	0.250836849213	0.03857	T	0.03677	0.24227	T	-0.537512	0.00347	T	-0.551042	0.17225	T	0.0143435864845985	0.00287	T	0.589541	0.23898	T	0.053804107	0.10234	0.049552698	0.07596	0.053804107	0.10233	0.049552698	0.07596	-8.497	0.64410	D	.	.	0.076	0.08560	B	.;.	.;.	1.749934	0.22263	15.55	0.97846921095446304	0.36365	0.79767	0.39592	D	AEFDBI	0.284578	0.39741	N	-0.453157282086646	0.23633	1.27048	-0.323561150214488	0.27339	1.516365	0.991465568210644	0.32498	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.94	4.13	0.47661	1.158000	0.31347	-0.035000	0.12744	-1.565000	0.00942	0.776000	0.29426	0.000000	0.08366	0.377000	0.26268	0.1281:0.0:0.7516:0.1203	9.131	0.36007	573	0.70213	Nrap protein, domain 4;Nrap protein, domain 4	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1130.33	36	chr9	33465786	.	G	A	1130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.469;DP=718;ExcessHet=0;FS=5.364;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=1.56;SOR=0.658	GT:AD:DP:GQ:PL	0/1:43,46:89:99:1144,0,970	18	0	1	0
chr9	35819232	35819232	T	G	exonic	FAM221B	.	nonsynonymous SNV	FAM221B:NM_001012446:exon5:c.A1016C:p.H339P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	0.110905011294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.146e-07	6.84e-07	1.41e-06	0	9.268e-07	0	0	.	.	0	0	0	0	0	0	9.268e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.664149	0.81001	D	2.99	0.85699	M	1.41	0.33412	T	-8.8	0.97786	D	0.885	0.88356	-0.3802	0.72645	T	0.210	0.56973	T	9	0.759416	0.76231	D	0.110905	0.78848	D	0.397	0.71163	0.362	0.36711	0.384584525793	0.38071	0.7907988447644441	0.79031	0.479879289657	0.47010	0.493766963482	0.37961	T	0.152634	0.49312	T	0.164229	0.70593	D	-0.00187266	0.70215	D	0.996532559394836	0.89544	D	0.676232	0.28483	T	0.6081317	0.73128	0.5665295	0.74909	0.6081317	0.73129	0.5665295	0.74909	-10.979	0.79543	D	.	.	0.935	0.85458	P	.	.	4.663908	0.74467	26.2	0.97337802375550642	0.33457	0.96611	0.70011	D	AEFI	0.677687	0.64230	D	0.570857455784074	0.71360	5.639171	0.453974695551327	0.64971	4.765269	0.999956988797985	0.48110	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.1	5.1	0.68917	3.309000	0.51613	7.886000	0.72778	0.661000	0.55757	0.997000	0.40164	1.000000	0.68203	0.573000	0.30723	0.0:0.0:0.0:1.0	11.329	0.48702	147	0.94143	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1043.33	35	chr9	35819232	.	T	G	1043.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.694;DP=716;ExcessHet=0;FS=6.419;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=1.26;SOR=1.56	GT:AD:DP:GQ:PL	0/1:42,36:78:99:1057,0,1221	18	0	1	0
chr9	35906578	35906578	-	CACCACCTCCAC	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.291_292insCACCACCTCCAC:p.H103_H104insLHHH	.	594	912	5	3	8	19	0.00599455	.	.	.	3887060	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.1283	.	0.0017	0	0.0009	0.0002	0	0.0024	0.0137	0.0014	5.17e-05	8	154602	rs745974201	0.0046	0.0047	0.0046	0.0047	0.0113	0.0045	0.0045	0.0086	0.0076	0.0008	0.0023	0.0269	0.0001	6.03e-05	0.0113	0.0045	0.0065	0.0039	0.0062	0.0068	0.0061	0.0064	0.0068	0.0057	0.0055	0.0061	0.0058	0.0023	0.0030	0.0041	0.0396	0	0	0	0.0068	0.0084	0.0061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1324.8	51	chr9	35906578	.	T	TCACCACCTCCAC	1324.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0;DP=865;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0557;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=1.05;SOR=0.746	GT:AD:DP:GQ:PL	0/1:37,18:55:99:625,0,1365	17	0	2	0
chr9	41953269	41953269	T	A	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon13:c.A1994T:p.Q665L	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1279738021	7.271e-07	1.368e-06	0	1.472e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.67477	.	.	.	.	.	.	.	0.5873157	0.66184	D	.	.	.	.	.	.	.	.	.	0.7020561504015097	0.70146	.	.	.	.	.	0.202036	0.56009	T	.	.	.	.	.	.	.	.	.	0.765923	0.39354	T	.	.	.	.	.	.	.	.	-12.397	0.86731	D	.	.	0.462	0.62806	A	.;.;.;.	.;.;.;.	3.504903	0.49059	22.7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.746000	0.54846	3.686000	0.39482	0.324000	0.19419	1.000000	0.71638	0.999000	0.35428	0.024000	0.12247	.	.	.	994	0.00715	.;.;Laminin G 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	.	.	.	.	.	.	.	.	0.05263	919.83	34	chr9	41953269	.	T	A	919.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.29;DP=759;ExcessHet=0.119;FS=0.729;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.76;MQRankSum=-1.968;QD=6.48;ReadPosRankSum=1.06;SOR=0.586	GT:AD:DP:GQ:PL	0/1:45,21:66:99:589,0,1196	17	0	2	0
chr9	41964613	41964613	C	T	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon11:c.G1681A:p.E561K	.	545	972	5	0	0	5	0.00256542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199769614	6.2e-05	0.0002	5.968e-05	6.439e-05	0.0008	5.139e-05	4.738e-05	0.0002	0.0002	3.212e-05	5.76e-05	0	5.571e-05	0.0003	0.0008	2.792e-05	0.0001	0.0003	7.884e-05	0.0002	7.713e-05	8.062e-05	0.0002	4.496e-05	3.512e-05	1.973e-05	1.125e-05	7.231e-05	0	6.537e-05	0	0	0.0002	0	5.883e-05	0.0005	0.0002	.	.	.	0.507	0.18675	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.33140	.	.	.	.	.	.	.	0.12276894	0.23294	T	.	.	.	.	.	.	.	.	.	0.30461603973527335	0.30374	.	.	.	.	.	5.39E-4	0.00207	T	.	.	.	.	.	.	.	.	.	0.29517	0.06377	T	.	.	.	.	.	.	.	.	-7.138	0.55035	T	.	.	0.071	0.04558	B	.;.;.	.;.;.	1.143617	0.15312	11.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.252000	0.08825	-0.484000	0.08901	0.298000	0.18894	0.000000	0.06391	0.000000	0.08366	0.867000	0.41218	.	.	.	994	0.00715	EGF-like domain;EGF-like domain|EGF-like domain;EGF-like domain|EGF-like 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	.	.	.	.	.	.	.	.	0.05263	518.88	106	chr9	41964613	.	C	T	518.88	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.64;DP=1382;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0573;MLEAC=2;MLEAF=0.053;MQ=45.41;MQRankSum=-1.191;QD=3.44;ReadPosRankSum=-0.726;SOR=0.746	GT:AD:DP:GQ:PL	0/1:37,16:53:99:386,0,1023	17	0	2	0
chr9	60916888	60916888	T	G	exonic	SPATA31A5;SPATA31A7	.	nonsynonymous SNV	SPATA31A5:NM_001113541:exon4:c.T432G:p.D144E,SPATA31A7:NM_015667:exon4:c.T432G:p.D144E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00110755987743	.	.	0	0	0	0	0	0	0	0	.	.	.	.	0.0008	0.0007	0.0007	0.0009	0.0019	0.0007	0.0006	0.0014	0.0012	0.0002	0.0006	0.0004	0	0	0	0.0005	0.0018	0.0019	0	0.0003	0	0	.	0	0	.	.	0	.	0	0	0	.	0	0	0	0	.	.	.	0.153	0.32144	T	0.376	0.34240	B	0.281	0.40336	B	0.233817	0.03536	N	1.706610	1	0.08975	N	2.26	0.64354	M	.	.	.	.	.	.	0.052	0.02366	-0.9907	0.32424	T	0.022	0.09375	T	10	0.06295791	0.08130	T	0.001963	0.03509	T	.	.	0.313	0.28774	0.0138822411134	0.00435	0.04192453732009555	0.04137	.	.	0.559368729591	0.47179	T	0.034064	0.23169	T	-0.194721	0.21568	T	-0.517479	0.20550	T	0.142491857881424	0.16487	T	0.466753	0.13720	T	0.033590633	0.03609	0.034614746	0.02560	0.033590633	0.03609	0.034614746	0.02560	-3.191	0.12370	T	.	.	0.165	0.36335	B	.	.	0.324252	0.06985	3.540	0.98104049785295289	0.38294	0.00587	0.02638	N	AEFI	0.033822	0.04083	N	-0.957084215023277	0.09535	0.4516586	-1.12989933217892	0.07134	0.3458757	1.22834868941895E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.82	-0.874	0.10093	-0.122000	0.10602	-15.955000	0.00333	0.411000	0.20652	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.1909:0.297:0.5121	2.438	0.04213	.	.	Domain of unknown function DUF4599	.	.	.	.	.	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	0.008130	0.000000	0.000000	0.026316	0.000000	0.000000	0.035088	0.000000	0.25	172.31	.	chr9	60916888	.	T	G	172.31	.	AC=2;AF=0.25;AN=8;DP=12;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.75;MQ=23.34;QD=28.72;SOR=1.329	GT:AD:DP:GQ:PL	1/1:0,6:6:18:169,18,0	3	1	0	15
chr9	87887321	87887321	G	A	exonic	SPATA31E1	.	nonsynonymous SNV	SPATA31E1:NM_178828:exon4:c.G2834A:p.R945Q	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0048	0.0071885	0.0015	0.0163	0.0005	0	0	7.595e-05	0	0	0.0014683	227	154602	rs77279910	0.0005	0.0005	0.0006	0.0004	0.0172	0.0004	0.0004	0.0160	0.0156	0.0172	0.0008	0	0	0	0.0009	1.888e-05	0.0010	5.797e-05	0.0046	0.0047	0.0049	0.0044	0.0165	0.0043	0.0042	0.0155	0.0151	0.0165	0	0.0009	0	0	0	0	5.882e-05	0.0005	0	0.446	0.09101	T	0.037	0.51737	D	0.012	0.16265	B	0.002	0.06944	B	0.000864	0.00701	N	3.912520	1	0.08975	N	0	0.06538	N	3.96	0.03354	T	0.47	0.03090	N	0.031	0.00770	-0.9557	0.39970	T	0.003	0.00897	T	10	0.002910912	0.00047	T	.	.	.	0.019	0.03383	.	.	0.0806252709748	0.07271	0.07286465031363669	0.07223	0.0104891913095	0.00965	0.457826346159	0.33012	T	0.002687	0.02075	T	-0.779437	0.00011	T	-0.878758	0.00664	T	0.000230617179781517	0.00001	T	0.463654	0.13513	T	0.024039961	0.01198	0.03113192	0.01659	0.024039961	0.01197	0.03113192	0.01659	-3.402	0.15083	T	.	.	0.080	0.07745	B	.	.	0.264332	0.06425	2.895	0.66348872196650777	0.08033	0.00115	0.00727	N	AEFDBI	0.029238	0.02722	N	-1.54441241475884	0.01567	0.06848674	-1.67599825783642	0.01247	0.05620342	0.992293177492903	0.32788	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.26	-4.52	0.03227	-0.309000	0.08185	-12.814000	0.00499	-1.204000	0.01358	0.005000	0.17040	0.000000	0.08366	0.001000	0.02609	0.1362:0.1822:0.3129:0.3686	1.237	0.01837	957	0.09725	.	.	.	.	.	.	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	0.001007	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2374.33	34	chr9	87887321	.	G	A	2374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=1223;ExcessHet=0;FS=0.623;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.37;ReadPosRankSum=-1.496;SOR=0.609	GT:AD:DP:GQ:PL	0/1:63,82:145:99:2388,0,1555	18	0	1	0
chr9	88130671	88130671	G	A	exonic	SPATA31C2	.	nonsynonymous SNV	SPATA31C2:NM_001166137:exon4:c.C2366T:p.A789V,SPATA31C2:NM_001350978:exon4:c.C2366T:p.A789V	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061901	0.0016	0.0203	0.0015	0	0	1.895e-05	0	0.0001	0.0015368	40	26028	rs541938675	0.0005	0.0005	0.0006	0.0004	0.0178	0.0005	0.0005	0.0167	0.0162	0.0178	0.0013	0	0	0	0.0007	1.349e-05	0.0011	0.0001	0.0054	0.0055	0.0056	0.0052	0.0188	0.0051	0.0050	0.0177	0.0173	0.0188	0	0.0026	0	0	0	0	1.47e-05	0.0019	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	0.001200	0.007692	0.001377	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1126.33	50	chr9	88130671	.	G	A	1126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.111;DP=1045;ExcessHet=0;FS=2.461;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=43.94;MQRankSum=0.252;QD=9.23;ReadPosRankSum=-0.34;SOR=1.005	GT:AD:DP:GQ:PL	0/1:80,42:122:99:1140,0,2336	18	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4737	14305.3	565	chr9	92080918	.	G	C	14305.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.988;DP=7105;ExcessHet=38.2876;FS=417.684;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.11;SOR=15.946	GT:AD:DP:GQ:PL	0/1:178,111:302:99:420,0,3179	1	0	18	0
chr9	92613124	92613124	C	T	exonic	CENPP	.	nonsynonymous SNV	CENPP:NM_001286971:exon4:c.C323T:p.S108L,CENPP:NM_001286969:exon7:c.C506T:p.S169L,CENPP:NM_001012267:exon8:c.C842T:p.S281L	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00154866346603	7.7e-05	0.000199681	0.0003	0	8.64e-05	0	0	5.995e-05	0	0.0019	0.0002717	42	154602	rs375746253	0.0002	0.0002	0.0001	0.0002	0.0022	0.0002	0.0001	0.0019	0.0018	0	4.472e-05	0	0	0	0.0002	4.406e-05	0.0001	0.0022	9.193e-05	9.186e-05	5.14e-05	0.0001	0.0017	5.524e-05	4.362e-05	0.0008	0.0006	2.407e-05	0	0	0	0	0	0	7.349e-05	0	0.0017	0.351	0.12265	T	1.0	0.07894	T	0.001	0.07471	B	0.001	0.04355	B	0.121523	0.02729	N	1.937940	1	0.08975	N	-0.35	0.03145	N	.	.	.	0.37	0.08971	N	0.087	0.08646	-1.0663	0.10246	T	0.058	0.24242	T	9	0.0049960315	0.00107	T	0.001549	0.02445	T	0.003	0.00094	.	.	0.0920862733494	0.08535	0.3265859349870014	0.32571	0.244596156274	0.26960	0.293012976646	0.09363	T	0.007337	0.06752	T	-0.645899	0.00077	T	-0.70735	0.05433	T	0.0204721626618642	0.00747	T	0.738826	0.36032	T	0.019975413	0.00541	0.024305174	0.00448	0.019975413	0.00541	0.024305174	0.00447	-2.14	0.19437	T	.	.	0.066	0.17827	B	.;.;.	.;.;.	0.491032	0.08603	5.371	0.84374772411105825	0.15254	0.01559	0.05102	N	AEFDBI	0.022713	0.01170	N	-1.50603714407212	0.01810	0.07932172	-1.58965406907493	0.01718	0.07809204	0.999999833336297	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.13	-7.07	0.01409	-0.824000	0.04545	-0.874000	0.07091	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.343000	0.25501	0.1092:0.5284:0.1112:0.2512	5.703	0.17162	.	.	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1018.33	35	chr9	92613124	.	C	T	1018.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.806;DP=694;ExcessHet=0;FS=0.92;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.89;SOR=0.848	GT:AD:DP:GQ:PL	0/1:32,41:73:99:1032,0,757	18	0	1	0
chr9	93666053	93666053	C	T	exonic	PHF2	.	nonsynonymous SNV	PHF2:NM_005392:exon16:c.C2180T:p.A727V	.	426	1088	8	0	0	8	0.003663	.	.	.	2209707	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.005	0.00710352431844	7.7e-05	0.000399361	0.0001	0	8.673e-05	0.0002	0	1.515e-05	0	0.0007	0.0001164	18	154602	rs139699684	7.532e-05	7.73e-05	5.449e-05	9.638e-05	0.0010	6.388e-05	5.944e-05	0.0005	0.0005	0	0	0	5.042e-05	0	0.0010	3.239e-05	0.0001	0.0007	3.941e-05	3.937e-05	1.285e-05	6.719e-05	0.0004	1.715e-05	1.129e-05	7.299e-05	3.032e-05	0	0	0	0	0	0	0	5.881e-05	0	0.0004	1.0	0.00964	T	0.29	0.21011	T	0.015	0.17086	B	0.004	0.10090	B	0.384855	0.04442	N	1.373100	1	0.08975	N	-0.205	0.04094	N	2.29	0.17113	T	-0.33	0.12472	N	0.076	0.05037	-0.9868	0.33396	T	0.016	0.06616	T	10	0.008565009	0.00194	T	0.007104	0.18814	T	0.005	0.00259	.	.	0.138757226776	0.13463	0.07269205793870805	0.07206	0.529892985118	0.50547	0.226193100214	0.01698	T	0.011642	0.10361	T	-0.663024	0.00060	T	-0.797969	0.01954	T	0.00475891974098895	0.00051	T	0.492651	0.15191	T	0.01186438	0.00023	0.022310345	0.00258	0.01186438	0.00023	0.022310345	0.00258	-2.714	0.07421	T	.	.	0.059	0.00806	B	.	.	-0.404926	0.02194	0.218	0.65487363537613863	0.07786	0.00312	0.01649	N	AEFDBI	0.018310	0.00546	N	-1.60545553328655	0.01237	0.05382786	-1.55082444931994	0.01970	0.089982	0.990241947802382	0.32087	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.21	-0.156	0.12736	0.061000	0.14242	-1.125000	0.06256	-2.136000	0.00379	0.001000	0.13787	0.000000	0.08366	0.011000	0.09372	0.1222:0.2398:0.0:0.638	5.456	0.15888	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	945.33	33	chr9	93666053	.	C	T	945.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.376;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=-1.031;SOR=0.788	GT:AD:DP:GQ:PL	0/1:28,35:63:99:959,0,687	18	0	1	0
chr9	96818687	96818688	CT	-	exonic	ZNF782	.	frameshift deletion	ZNF782:NM_001346993:exon4:c.1263_1264del:p.K424Tfs*6,ZNF782:NM_001346995:exon4:c.939_940del:p.K316Tfs*6,ZNF782:NM_001346991:exon5:c.1335_1336del:p.K448Tfs*6,ZNF782:NM_001001662:exon6:c.1335_1336del:p.K448Tfs*6	.	375	1145	2	0	0	2	0.0008726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	0.0001	0	0	0	0.0008	0.0001	0.0011	0	9.06e-05	14	154602	rs767445475	0.0001	0.0001	9.665e-05	0.0001	0.0007	8.982e-05	8.465e-05	0.0002	0.0001	8.961e-05	0	0	0	0.0008	0.0007	7.734e-05	0.0002	4.637e-05	9.203e-05	9.195e-05	7.71e-05	0.0001	4.833e-05	5.53e-05	4.367e-05	8.01e-06	3e-06	4.833e-05	0	0	0	0	0.0009	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	3248.29	35	chr9	96818686	.	CCT	C	3248.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.83;DP=862;ExcessHet=0;FS=1.292;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.51;ReadPosRankSum=-0.781;SOR=0.85	GT:AD:DP:GQ:PL	0/1:67,84:151:99:3262,0,2548	18	0	1	0
chr9	101312823	101312823	C	T	exonic	PLPPR1	.	nonsynonymous SNV	PLPPR1:NM_017753:exon6:c.C662T:p.T221M,PLPPR1:NM_207299:exon6:c.C662T:p.T221M	.	.	.	.	.	.	.	.	.	.	.	2388890	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.380	0.0976784921709	7.7e-05	.	5.775e-05	9.615e-05	0	0.0001	0.0002	3.004e-05	0	0.0001	4.53e-05	7	154602	rs200667385	4.994e-05	5.062e-05	4.492e-05	5.5e-05	0.0003	4.059e-05	3.734e-05	0.0002	0.0001	2.987e-05	2.236e-05	0	2.519e-05	0	0	4.047e-05	4.967e-05	0.0003	3.944e-05	3.94e-05	5.14e-05	2.691e-05	7.242e-05	1.716e-05	1.13e-05	1.92e-05	1.032e-05	7.242e-05	0	0	0	0	0	0	4.411e-05	0	0	0.025	0.47320	D	0.16	0.31427	T	1.0	0.90584	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.92	0.75108	T	-1.92	0.44657	N	0.869	0.86725	-0.0640	0.80908	T	0.565	0.84189	D	10	0.82285213	0.81479	D	0.097678	0.76814	D	0.380	0.69780	.	.	0.68047775509	0.67775	0.734329120507651	0.73377	1.51991440881	0.87402	0.851043999195	0.89772	D	0.523908	0.83401	D	0.0260067	0.55189	T	0.0917292	0.76361	D	0.150682774758692	0.17158	T	0.90391	0.66280	D	0.16805206	0.37240	0.1857081	0.41700	0.16805206	0.37239	0.1857081	0.41699	-6.812	0.52648	T	.	.	0.154	0.33981	B	.;.	.;.	5.618446	0.92587	32	0.99901520719445625	0.97350	0.98293	0.81337	D	AEFDGBCI	0.927240	0.90958	D	0.65924852648913	0.76968	6.585246	0.703750158297404	0.82665	7.823235	1.0	0.98316	0.516011	0.20929	0	0.547309	0.14657	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.94	5.94	0.96165	7.530000	0.80856	4.894000	0.45793	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.0:1.0:0.0:0.0	19.348	0.94358	893	0.26510	Phosphatidic acid phosphatase type 2/haloperoxidase|Phosphatidic acid phosphatase type 2/haloperoxidase;Phosphatidic acid phosphatase type 2/haloperoxidase|Phosphatidic acid phosphatase type 2/haloperoxidase	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1149.33	35	chr9	101312823	.	C	T	1149.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=700;ExcessHet=0;FS=5.42;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=1.57;SOR=1.435	GT:AD:DP:GQ:PL	0/1:36,37:73:99:1163,0,956	18	0	1	0
chr9	104791984	104791984	C	G	exonic	ABCA1	.	nonsynonymous SNV	ABCA1:NM_005502:exon43:c.G5772C:p.K1924N	HDL deficiency, type 2;Tangier disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.06221081517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0012	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0	0	5.055e-05	0	0	0.0002	0.0001	4.657e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.091	0.40110	T	0.247	0.31125	B	0.088	0.29688	B	0.000000	0.84330	D	0.045089	0.999755	0.48800	D	1.13	0.28900	L	-3.17	0.93054	D	-1.21	0.30762	N	0.552	0.57775	0.200	0.85915	D	0.664	0.88344	D	10	0.61665916	0.67744	D	0.062211	0.68581	D	0.335	0.65718	0.505	0.59924	0.9309695667	0.93025	0.7757620043553375	0.77526	0.840773140511	0.68051	0.697716891766	0.66815	T	0.417549	0.77016	T	0.0336622	0.56210	T	-0.189423	0.55645	T	0.914153516292572	0.57069	D	0.827217	0.49094	T	0.21141762	0.43466	0.13099158	0.31463	0.21141762	0.43466	0.13099158	0.31462	-2.565	0.06242	T	0.3071058489311145	0.40482	0.557	0.67094	A	.	.	3.371619	0.46592	22.3	0.995040822481701	0.68206	0.88309	0.48179	D	ALL	0.483156	0.52372	N	-0.0355436023887051	0.40251	2.387167	0.105231415740194	0.44815	2.756065	0.999999999999994	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.82	4.92	0.64147	1.071000	0.30278	1.106000	0.24114	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.733:0.0:0.267	9.087	0.35749	950	0.11238	ABC transporter-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	.	.	.	.	.	.	.	.	0.05263	46.04	75	chr9	104791984	.	C	G	46.04	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.486;DP=1789;ExcessHet=0.119;FS=235.292;InbreedingCoeff=-0.0545;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.22;ReadPosRankSum=1.41;SOR=11.414	GT:AD:DP:GQ:PL	0/1:79,32:111:1:1,0,1535	17	0	2	0
chr9	105471961	105471961	G	T	exonic	FSD1L	.	nonsynonymous SNV	FSD1L:NM_001287191:exon4:c.G301T:p.A101S,FSD1L:NM_001287192:exon4:c.G301T:p.A101S,FSD1L:NM_001330739:exon4:c.G301T:p.A101S,FSD1L:NM_031919:exon4:c.G301T:p.A101S,FSD1L:NM_001145313:exon5:c.G397T:p.A133S	.	538	958	24	2	0	28	0.0144033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	.	0.0088	0.00319489	0.0081	0.0021	0	0	0.0080	0.0129	0.0121	0.0056	0.0025679	397	154602	rs117347201	0.0090	0.0086	0.0090	0.0091	0.0184	0.0089	0.0088	0.0155	0.0144	0.0017	0.0082	0.0179	3.636e-05	0.0079	0.0184	0.0094	0.0097	0.0056	0.0080	0.0080	0.0079	0.0082	0.0113	0.0076	0.0075	0.0102	0.0099	0.0019	0	0.0113	0.0185	0	0.0099	0.0213	0.0108	0.0117	0.0062	0.007	0.65419	D	0.033	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000015	0.62929	U	0.000000	0.874791	0.81001	D	2.505	0.72935	M	0.97	0.42502	T	-2.77	0.58733	D	0.597	0.68429	-0.7143	0.59741	T	0.187	0.53707	T	10	0.0049656928	0.00106	T	.	.	.	0.191	0.46948	.	.	0.526943034955	0.52341	0.36103982382109684	0.36017	.	.	0.682937860489	0.64690	T	0.039	0.29591	T	-0.343202	0.05169	T	-0.256367	0.49187	T	0.0154957271314856	0.00350	T	0.965903	0.88824	D	0.30125758	0.53017	0.33402807	0.59233	0.30125758	0.53017	0.33402807	0.59233	-6.333	0.59485	T	.	.	0.396	0.59353	A	.;.;.;.;.;.	.;.;.;.;.;.	4.704761	0.75520	26.3	0.9960850462564681	0.74634	0.94107	0.60133	D	AEFBI	0.627507	0.60994	D	0.709707811512654	0.80268	7.257006	0.686248716511135	0.81334	7.502418	0.999965478769355	0.48965	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.528226	0.09195	0	.	.	4.94	4.94	0.64645	6.915000	0.75593	11.662000	0.93998	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	17.286	0.87029	960	0.08626	B-box, C-terminal;B-box, C-terminal;.;B-box, C-terminal;B-box, C-terminal;B-box, C-terminal	FKTN|FKTN|FKTN|FKTN|FKTN	Artery_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	.	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	0.024173	0.021739	0.000000	0.027273	0.000000	0.100000	0.030488	0.026316	0.07895	2841.79	33	chr9	105471961	.	G	T	2841.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.256;DP=824;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.767;SOR=0.721	GT:AD:DP:GQ:PL	0/1:41,42:83:99:984,0,1015	16	0	3	0
chr9	112838537	112838537	C	T	exonic	SNX30	.	nonsynonymous SNV	SNX30:NM_001012994:exon6:c.C854T:p.S285F	.	432	1079	10	1	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	.	0.0006	0.00339457	0.0013	0	0.0004	0	0	0.0009	0	0.0055	0.0011643	180	154602	rs192545589	0.0008	0.0008	0.0006	0.0009	0.0051	0.0007	0.0007	0.0047	0.0046	0.0004	0.0006	0	0	0	0.0033	0.0005	0.0008	0.0051	0.0007	0.0007	0.0007	0.0007	0.0050	0.0006	0.0006	0.0034	0.0029	0.0003	0	0.0012	0	0	0	0.0102	0.0007	0.0019	0.0050	0.028	0.46129	D	0.062	0.45318	T	0.998	0.73220	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.39	0.68882	M	1.73	0.26445	T	-2.26	0.50502	N	0.654	0.66443	-0.9849	0.33856	T	0.112	0.40052	T	10	0.009195298	0.00208	T	.	.	.	0.281	0.59861	.	.	0.176862962021	0.17281	0.6963577927378339	0.69576	1.03830873914	0.75688	0.68744379282	0.65339	T	0.208901	0.56896	T	-0.12288	0.32655	T	0.0523577	0.73739	D	0.127531483769417	0.15152	T	0.950605	0.81072	D	0.32067564	0.54697	0.23084652	0.48198	0.32067564	0.54697	0.23084652	0.48197	-8.073	0.61567	D	.	.	0.247	0.48124	B	.	.	4.572592	0.72161	25.8	0.99805050807870455	0.88906	0.98676	0.85452	D	AEFBI	0.894895	0.83436	D	0.618525323020078	0.74345	6.117228	0.573728917633802	0.73064	5.909455	0.999999999999996	0.74766	0.638212	0.43195	0	0.593476	0.48661	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.4	5.4	0.77957	7.568000	0.81546	7.626000	0.62520	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.586000	0.31041	0.0:1.0:0.0:0.0	19.183	0.93617	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	0.004028	0.000000	0.000000	0.002924	0.050000	0.008621	0.018293	0.000000	0.02632	899.33	34	chr9	112838537	.	C	T	899.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.218;DP=736;ExcessHet=0;FS=2.071;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.398;SOR=0.464	GT:AD:DP:GQ:PL	0/1:42,32:74:99:913,0,1292	18	0	1	0
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S,WHRN:NM_001083885:exon9:c.G1068C:p.R356S,WHRN:NM_001173425:exon9:c.G2217C:p.R739S,WHRN:NM_015404:exon9:c.G2217C:p.R739S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0237251287023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.249	0.34959	T	0.996	0.68779	D	0.956	0.69739	D	0.000003	0.62929	D	0.058524	0.999998	0.58761	D	2.485	0.72352	M	3.72	0.11082	T	-1.76	0.41618	N	0.794	0.79022	-1.1467	0.01127	T	0.071	0.28969	T	10	0.7061209	0.72749	D	0.023725	0.46702	T	0.246	0.55340	0.267	0.21418	0.465381546717	0.46164	0.546202977391294	0.54546	0.217767607061	0.24300	0.665198624134	0.62152	T	0.178877	0.52967	T	0.156707	0.69894	D	-0.0126771	0.69508	D	0.965095579624176	0.67160	D	0.918408	0.70674	D	0.43276304	0.62933	0.30041197	0.56075	0.43276304	0.62933	0.30041197	0.56074	-3.765	0.20655	T	.	.	0.861	0.82156	P	.;.;.	.;.;.	4.122777	0.61634	24.4	0.99728939135831174	0.82619	0.85209	0.44322	D	AEFDBI	0.404361	0.47768	N	0.490746823562894	0.66546	4.964436	0.418910173237003	0.62744	4.495032	0.999998553595518	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.38	0.52019	0.480000	0.21954	1.068000	0.23780	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.662000	0.33024	0.0:0.8454:0.0:0.1546	9.668	0.39158	627	0.65350	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3824	7995.7	272	chr9	114406374	.	C	G	7995.7	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-3.035;DP=4089;ExcessHet=13.8672;FS=165.2;InbreedingCoeff=-0.5835;MLEAC=14;MLEAF=0.412;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=0.718;SOR=13.316	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,44:208:99:0|1:114406374_C_G:368,0,5813:114406374	4	0	13	2
chr9	114406375	114406375	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1163C:p.R388T,WHRN:NM_001083885:exon9:c.G1067C:p.R356T,WHRN:NM_001173425:exon9:c.G2216C:p.R739T,WHRN:NM_015404:exon9:c.G2216C:p.R739T	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.0327677642762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.000003	0.62929	D	0.058524	1	0.81001	D	2.485	0.72352	M	3.67	0.11947	T	-1.91	0.45042	N	0.816	0.81162	-1.0102	0.26854	T	0.111	0.39817	T	10	0.7625818	0.76459	D	0.032768	0.54504	D	0.328	0.65026	0.301	0.26843	0.629257994256	0.62622	0.515018125573271	0.51424	0.317085791368	0.33956	0.693475842476	0.66205	T	0.250673	0.62080	T	0.0954069	0.63792	D	-0.100731	0.63342	T	0.93917840719223	0.61041	D	0.923508	0.72088	D	0.42132396	0.62180	0.29035416	0.55058	0.42132396	0.62180	0.29035416	0.55057	-4.136	0.26316	T	.	.	0.663	0.73938	P	.;.;.	.;.;.	4.986942	0.82651	27.8	0.98226065711499799	0.39343	0.97842	0.77538	D	AEFDBI	0.694202	0.65328	D	0.672510807959941	0.77831	6.75116	0.61009073618077	0.75672	6.352084	0.999999999999999	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	5.29	0.74430	5.501000	0.66665	7.602000	0.61596	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.667000	0.33166	0.0:1.0:0.0:0.0	18.935	0.92554	627	0.65350	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2778	6730.11	112	chr9	114406375	.	C	G	6730.11	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-6.068;DP=3407;ExcessHet=6.9875;FS=164.626;InbreedingCoeff=-0.3828;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.3;ReadPosRankSum=0.637;SOR=12.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,44:208:99:0|1:114406374_C_G:368,0,5813:114406374	8	0	10	1
chr9	123236892	123237026	GGGAGGCTGAGGCAGGCGGATCACTTGCGTTCAGGAGTTCGAGACCAGCCAGGTCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAATTCCAGCTACTC	-	splicing	STRBP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.181e-06	0	0	.	0	0	.	.	0	.	.	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	44.38	4	chr9	123236891	.	TGGGAGGCTGAGGCAGGCGGATCACTTGCGTTCAGGAGTTCGAGACCAGCCAGGTCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAATTCCAGCTACTC	T	44.38	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.112;DP=64;ExcessHet=0;FS=0;InbreedingCoeff=-0.0967;MLEAC=1;MLEAF=0.028;MQ=58.76;MQRankSum=-1.643;QD=3.41;ReadPosRankSum=1.59;SOR=1.179	GT:AD:DP:GQ:PL	0/1:10,3:13:56:56,0,413	17	0	1	1
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3529	3675.71	62	chr9	127707148	.	G	C	3675.71	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-1.183;DP=1556;ExcessHet=20.8569;FS=238.955;InbreedingCoeff=-0.7271;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=2.9;ReadPosRankSum=1.4;SOR=11.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,16:106:16:.:.:16,0,1465:.	5	0	12	2
chr9	128582545	128582545	C	T	exonic	SPTAN1	.	nonsynonymous SNV	SPTAN1:NM_001130438:exon13:c.C1639T:p.R547C,SPTAN1:NM_001195532:exon13:c.C1639T:p.R547C,SPTAN1:NM_001363759:exon13:c.C1639T:p.R547C,SPTAN1:NM_001363765:exon13:c.C1639T:p.R547C,SPTAN1:NM_001375310:exon13:c.C1639T:p.R547C,SPTAN1:NM_001375311:exon13:c.C1639T:p.R547C,SPTAN1:NM_001375313:exon13:c.C1639T:p.R547C,SPTAN1:NM_001375314:exon13:c.C1639T:p.R547C,SPTAN1:NM_003127:exon13:c.C1639T:p.R547C,SPTAN1:NM_001375312:exon14:c.C1675T:p.R559C,SPTAN1:NM_001375318:exon14:c.C1675T:p.R559C	Epileptic encephalopathy, early infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2893099	not_provided|Developmental_and_epileptic_encephalopathy	MedGen:C3661900|MONDO:MONDO:0100620,MedGen:C5779964	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.584	0.0750068859544	.	.	8.239e-06	9.614e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs779260779	3.421e-06	4.104e-06	2.723e-06	4.126e-06	2.987e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.987e-05	0	0	0	0	0	2.698e-06	0	1.159e-05	6.571e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.033	0.44358	D	0.018	0.59732	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.52	0.73523	M	0.89	0.45636	T	-3.94	0.73378	D	0.854	0.87049	-0.4154	0.71538	T	0.321	0.68978	T	10	0.84776706	0.83947	D	0.075007	0.72183	D	0.584	0.83305	0.695	0.83219	0.68965411497	0.68699	0.681365942298319	0.68075	1.6492091948	0.89517	0.859658718109	0.91060	D	0.543793	0.84427	D	0.126288	0.66998	D	0.125155	0.78575	D	0.940614657457347	0.61311	D	0.981802	0.93846	D	0.3716715	0.58708	0.26568505	0.52404	0.3716715	0.58708	0.26568505	0.52403	-12.445	0.86951	D	0.2928700803856528	0.38961	0.797	0.81188	P	.;.;.;.;.	.;.;.;.;.	5.299296	0.88967	29.8	0.99941509488681202	0.99797	0.99489	0.96653	D	AEFBI	0.933608	0.92576	D	0.807184420702145	0.86554	8.922744	0.809860849736805	0.90471	10.42225	0.999999999995221	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	7.568000	0.81546	4.901000	0.45859	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.081	0.93165	0	0.99858	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	281.33	34	chr9	128582545	.	C	T	281.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.494;DP=804;ExcessHet=0;FS=141.496;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.86;ReadPosRankSum=0.895;SOR=7.378	GT:AD:DP:GQ:PL	0/1:112,39:151:99:295,0,2617	18	0	1	0
chr9	128724015	128724015	C	T	exonic	ZDHHC12	.	nonsynonymous SNV	ZDHHC12:NM_001318015:exon1:c.G79A:p.V27M,ZDHHC12:NM_001318016:exon1:c.G79A:p.V27M,ZDHHC12:NM_001318020:exon1:c.G79A:p.V27M,ZDHHC12:NM_001318023:exon1:c.G79A:p.V27M,ZDHHC12:NM_032799:exon1:c.G79A:p.V27M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0040	0.00419329	0.0013	0.0150	0.0001	0	0	0	0	0	0.0010349	160	154602	rs36044649	0.0004	0.0004	0.0004	0.0003	0.0140	0.0003	0.0003	0.0129	0.0125	0.0140	0.0003	0	0	0	0.0009	3.599e-06	0.0006	3.484e-05	0.0032	0.0032	0.0030	0.0033	0.0113	0.0029	0.0028	0.0104	0.0101	0.0113	0	0.0003	0	0	0	0	0	0.0033	0	0.017	0.78490	D	0.033	0.59159	D	0.718	0.42284	P	0.316	0.41603	B	0.215649	0.16259	N	0.612602	0.623947	0.32730	D	1.355	0.33814	L	1.4	0.52416	T	-0.84	0.26843	N	0.427	0.46649	-0.8109	0.54496	T	0.092	0.35201	T	10	0.00937596	0.00212	T	.	.	.	0.062	0.17934	.	.	0.476522311808	0.47281	0.40722202072138575	0.40638	0.719927638841	0.62156	0.785131931305	0.79704	T	0.014534	0.21296	T	-0.419369	0.01726	T	-0.363494	0.37648	T	0.0417573926245753	0.04010	T	0.940673	0.77758	D	0.28002295	0.51050	0.29964843	0.55999	0.28002295	0.51050	0.29964843	0.55998	-5.353	0.40464	T	.	.	0.521	0.69436	A	.;.;.;.	.;.;.;.	4.977518	0.82420	27.8	0.99853779921722097	0.93279	0.53319	0.29343	D	ALL	0.227146	0.35100	N	0.27719910872287	0.54994	3.66395	0.334100705911515	0.57554	3.921645	0.999999999168372	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.16	4.2	0.48814	2.504000	0.45076	4.705000	0.44428	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.999000	0.91618	0.0:0.8458:0.1542:0.0	13.849	0.62982	0	0.99858	.;.;.;.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.05263	2040.81	34	chr9	128724015	.	C	T	2040.81	.	AC=2;AF=0.053;AN=38;DP=699;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.01;SOR=1.263	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2068,204,0	18	1	0	0
chr9	129752993	129752993	A	T	exonic	PTGES	.	nonsynonymous SNV	PTGES:NM_004878:exon1:c.T20A:p.V7E	.	405	1116	0	1	0	2	0.000895255	.	.	.	723359	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.026	.	0.0078	0.0061901	0.0021	0.0229	0.0006	0	0	0.0001	0	0	0.0019211	297	154602	rs45499692	0.0006	0.0006	0.0007	0.0006	0.0222	0.0006	0.0006	0.0208	0.0203	0.0222	0.0010	0	0	0	0.0010	7.465e-05	0.0011	0	0.0065	0.0065	0.0068	0.0062	0.0226	0.0062	0.0060	0.0214	0.0210	0.0226	0	0.0022	0	0	0	0	0.0001	0.0043	0	0.047	0.40319	D	0.284	0.21411	T	0.002	0.09854	B	0.0	0.01387	B	0.141132	0.18287	N	0.580298	1	0.08975	N	0.805	0.20218	L	.	.	.	-1.39	0.34397	N	0.071	0.04426	-1.0766	0.08023	T	0.014	0.05657	T	9	0.0030754805	0.00051	T	.	.	.	0.026	0.05648	.	.	0.043077524339	0.03247	0.4489682369162159	0.44814	0.818351593899	0.67040	0.394020199776	0.24235	T	0.139113	0.47297	T	-0.683253	0.00046	T	-0.735298	0.04091	T	0.00488398089764689	0.00052	T	0.193481	0.02080	T	0.2555029	0.48585	0.20870434	0.45183	0.2555029	0.48585	0.20870434	0.45182	-3.875	0.21928	T	.	.	0.091	0.13315	B	.	.	1.770106	0.22508	15.65	0.85003313268084046	0.15626	0.01364	0.04664	N	ALL	0.056158	0.10360	N	-1.28416563970042	0.03866	0.1734521	-1.34823293744545	0.03827	0.1792977	0.99999999999961	0.74766	0.789315	0.99827	0	0.616487	0.53143	0	0.768056	0.98339	0	0.620976	0.48614	0	.	.	3.66	-3.71	0.04137	-0.008000	0.12724	0.811000	0.21752	-0.164000	0.11507	0.000000	0.06391	0.001000	0.17328	0.019000	0.11356	0.3744:0.0:0.1888:0.4368	3.635	0.07686	347	0.85595	.	.	.	.	.	.	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	0.002018	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	2272.81	37	chr9	129752993	.	A	T	2272.81	.	AC=2;AF=0.053;AN=38;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.42;SOR=1.644	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2300,204,0	18	1	0	0
chr9	130433379	130433379	G	A	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon98:c.G14926A:p.G4976S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	.	.	0.00878594	0.0029	0.0443	0	0	.	0	0	0	0.0005757	89	154602	rs113041177	0.0008	0.0008	0.0009	0.0007	0.0295	0.0008	0.0007	0.0278	0.0271	0.0295	0.0021	0	0	0	0.0017	6.26e-05	0.0024	9.619e-05	0.0078	0.0078	0.0082	0.0073	0.0269	0.0074	0.0073	0.0256	0.0251	0.0269	0	0.0029	0	0	0	0.0034	8.821e-05	0.0061	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.00717	-0.8278	0.53442	T	0.186	0.53511	T	6	0.002153635	0.00031	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.22134895655357056	0.22049	.	.	.	.	.	2.6E-4	0.00060	T	-0.662762	0.00060	T	-0.704516	0.05582	T	0.00404215957425928	0.00043	T	0.563244	0.19836	T	0.059518743	0.12107	0.09689803	0.23042	0.059518743	0.12107	0.09689803	0.23041	-2.57	0.06278	T	.	.	0.061	0.01109	B	.	.	0.191477	0.05775	2.218	0.92567638573492106	0.22021	0.10069	0.15675	N	ALL	0.052312	0.09325	N	-1.08785136262138	0.06866	0.3173051	-1.12619359170849	0.07202	0.3494766	0.999999992660392	0.74766	0.789315	0.99827	0	0.616487	0.53143	0	0.768056	0.98339	0	0.554799	0.18163	0	.	.	4.54	-2.81	0.05459	0.061000	0.14242	-0.214000	0.10826	-0.352000	0.05559	0.209000	0.24412	0.004000	0.18990	0.022000	0.11911	0.4869:0.1496:0.3635:0.0	5.468	0.15947	358	0.85037	.	.	.	.	.	.	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	1429.81	34	chr9	130433379	.	G	A	1429.81	.	AC=2;AF=0.053;AN=38;DP=671;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.04;SOR=2.531	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1457,126,0	18	1	0	0
chr9	132269668	132269668	T	C	exonic	SETX	.	nonsynonymous SNV	SETX:NM_001351527:exon25:c.A7234G:p.I2412V,SETX:NM_001351528:exon25:c.A7234G:p.I2412V,SETX:NM_015046:exon25:c.A7234G:p.I2412V	Amyotrophic lateral sclerosis 4, juvenile, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 1, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	2092043	Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2|Amyotrophic_lateral_sclerosis_type_4	MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433,Orphanet:357043	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.600	0.214585478338	.	.	1.648e-05	0	0	0	0	0	0.0011	6.058e-05	1.29e-05	2	154602	rs202127812	1.71e-05	1.71e-05	5.445e-06	2.888e-05	0.0002	1.174e-05	9.92e-06	0.0001	0.0001	0	0	0	0	0	0.0002	3.597e-06	4.967e-05	0.0002	1.97e-05	1.97e-05	1.284e-05	2.689e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0.0002	0.012	0.65419	D	0.019	0.59159	D	0.973	0.57599	D	0.898	0.63708	P	0.000023	0.55875	D	0.087475	0.932347	0.37019	D	1.375	0.34280	L	-3.18	0.93111	D	-0.98	0.25986	N	0.438	0.47672	0.926	0.96045	D	0.821	0.93969	D	10	0.56894165	0.65209	D	0.214585	0.87465	D	0.600	0.84183	0.713	0.84872	0.810620541579	0.80884	0.728966390495915	0.72840	0.388637755541	0.40126	0.622764647007	0.56119	T	0.477088	0.80746	T	0.00621221	0.52506	T	-0.0261991	0.68620	D	0.303031973854117	0.25128	T	0.950305	0.89869	D	0.46229586	0.64814	0.38704166	0.63582	0.46229586	0.64814	0.38704166	0.63582	-6.725	0.51999	T	0.694609613521574	0.77279	0.216	0.44553	B	.;.	.;.	4.427749	0.68635	25.3	0.99926606575202237	0.99103	0.93023	0.57131	D	AEFDBCIJ	0.683035	0.64585	D	0.516868831860595	0.68086	5.169169	0.55632999846481	0.71840	5.716387	0.999999999965238	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.31	5.31	0.75063	5.913000	0.69690	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.783	0.69401	957	0.09725	.;.	.	.	.	.	.	Likely benign	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	1	0	.	.	.	.	.	.	.	.	0.05263	3557.81	33	chr9	132269668	.	T	C	3557.81	.	AC=2;AF=0.053;AN=38;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.65;SOR=2.041	GT:AD:DP:GQ:PL	1/1:0,120:120:99:3585,360,0	18	1	0	0
chr9	134730474	134730474	A	G	exonic	COL5A1	.	nonsynonymous SNV	COL5A1:NM_000093:exon7:c.A1163G:p.N388S,COL5A1:NM_001278074:exon7:c.A1163G:p.N388S	Ehlers-Danlos syndrome, classic type, Autosomal dominant	1	1520	1	0	0	1	0.000328839	0.9693	0.812	.	217343	Ehlers-Danlos_syndrome,_classic_type,_1|not_provided|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome,_classic_type	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000|MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0007522,MedGen:C4225429,Orphanet:287	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.270	0.250143368876	7.7e-05	0.000199681	6.685e-05	9.976e-05	0	0.0002	0	6.098e-05	0	6.065e-05	5.82e-05	9	154602	rs150837465	4.857e-05	4.857e-05	5.31e-05	4.401e-05	8.961e-05	3.927e-05	3.605e-05	3.89e-05	3.49e-05	8.961e-05	2.236e-05	3.826e-05	7.557e-05	0	0	4.946e-05	8.279e-05	3.478e-05	5.258e-05	5.251e-05	5.143e-05	5.378e-05	0.0002	2.558e-05	1.83e-05	2.848e-05	1.859e-05	2.407e-05	0	6.538e-05	0	0.0002	0	0	7.355e-05	0	0	0.71	0.04044	T	0.74	0.04982	T	0.0	0.02946	B	0.0	0.01387	B	0.643249	0.05880	U	1.215830	0.992939	0.23800	N	0.715	0.18665	N	-2.48	0.89071	D	-0.64	0.18670	N	0.255	0.31702	-0.6593	0.62307	T	0.535	0.82772	D	10	0.07849172	0.12515	T	0.250143	0.89080	D	0.270	0.58507	.	.	0.501711920363	0.49808	0.24519584380264753	0.24433	0.132666713148	0.14947	0.395354092121	0.24421	T	0.093578	0.39240	T	-0.327342	0.06314	T	-0.407657	0.32494	T	0.0596323385834694	0.07110	T	0.592541	0.22995	T	0.025860619	0.01572	0.032671988	0.02038	0.025860619	0.01571	0.032671988	0.02038	-1.258	0.01336	T	.	.	0.061	0.02173	B	.;.	.;.	2.181403	0.27809	17.59	0.39353552804981756	0.02710	0.88110	0.47896	D	AEFDGBI	0.321513	0.42429	N	-0.585353311197814	0.19388	1.014353	-0.496183914303258	0.22258	1.208102	0.99986483691079	0.44398	0.706548	0.73137	0	0.547309	0.14657	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.52	3.34	0.37357	2.453000	0.44627	4.855000	0.45413	0.756000	0.94297	0.039000	0.20931	0.935000	0.28640	0.002000	0.04165	0.9156:0.0:0.0843:0.0	9.890	0.40452	888	0.27761	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1053.33	40	chr9	134730474	.	A	G	1053.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.099;DP=734;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.566;SOR=0.701	GT:AD:DP:GQ:PL	0/1:44,42:86:99:1067,0,1130	18	0	1	0
chr9	136451383	136451383	G	A	exonic	SEC16A	.	nonsynonymous SNV	SEC16A:NM_001276418:exon22:c.C6185T:p.S2062L,SEC16A:NM_014866:exon23:c.C6185T:p.S2062L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0181188467307	.	0.000399361	0.0003	0	0	0.0002	0	0	0	0.0019	0.000207	32	154602	rs190567329	8.84e-05	8.893e-05	5.592e-05	0.0001	0.0013	7.568e-05	7.113e-05	0.0011	0.0010	0	0	0	0	0	0	1.35e-05	4.979e-05	0.0013	3.938e-05	3.937e-05	3.854e-05	4.027e-05	0.0004	1.714e-05	1.128e-05	7.293e-05	3.03e-05	2.404e-05	0	6.534e-05	0	0.0004	0	0	0	0	0.0004	0.243	0.19569	T	0.091	0.42086	T	0.147	0.27870	B	0.019	0.18783	B	0.347946	0.13861	N	0.714168	1	0.08975	N	.	.	.	1.56	0.51714	T	-2.22	0.59059	N	0.111	0.16447	-1.0431	0.16383	T	0.083	0.32440	T	10	0.0091893375	0.00208	T	0.018119	0.40075	T	0.068	0.19811	.	.	0.0934897674506	0.08844	0.38865168435037334	0.38780	0.0591755686148	0.06573	0.382856816053	0.22661	T	0.025086	0.31211	T	-0.5126	0.00485	T	-0.544469	0.17861	T	0.0231931382225924	0.01046	T	0.707329	0.31793	T	0.03239696	0.03256	0.039898224	0.04190	0.03239696	0.03256	0.039898224	0.04190	-3.354	0.14444	T	.	.	0.099	0.16538	B	.;.;.;.;.;.	.;.;.;.;.;.	0.920727	0.12954	9.463	0.97241633314393539	0.32996	0.07009	0.13035	N	AEFGBI	0.045960	0.07577	N	-0.924382263992677	0.10274	0.4901634	-0.991635452112335	0.09972	0.4993653	0.217365891334579	0.18314	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.77	0.996	0.18963	0.131000	0.15696	4.767000	0.44750	0.676000	0.76740	0.000000	0.06391	0.860000	0.27479	0.001000	0.02609	0.2655:0.0:0.7345:0.0	6.587	0.21819	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	.	.	.	.	.	.	.	.	0.02632	927.33	25	chr9	136451383	.	G	A	927.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.8;DP=656;ExcessHet=0;FS=3.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.453;SOR=1.204	GT:AD:DP:GQ:PL	0/1:32,33:65:99:941,0,715	18	0	1	0
chr9	137279855	137279855	C	A	exonic	TOR4A	.	nonsynonymous SNV	TOR4A:NM_017723:exon2:c.C1166A:p.A389D	.	427	1087	7	1	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	.	7.7e-05	0.00579073	0.0083	0	0.0009	0	0	3.945e-05	0	0.0381	0.003454	534	154602	rs199638778	0.0020	0.0020	0.0011	0.0028	0.0324	0.0019	0.0019	0.0313	0.0309	6.024e-05	4.751e-05	0	2.579e-05	0	0.0016	1.63e-05	0.0021	0.0324	0.0011	0.0011	0.0005	0.0017	0.0323	0.0009	0.0009	0.0281	0.0266	0.0001	0	0.0002	0	0	0	0	0	0.0005	0.0323	0.314	0.13834	T	0.271	0.22291	T	0.031	0.20130	B	0.01	0.14941	B	0.053531	0.22801	N	0.486110	0.807614	0.34596	D	1.995	0.54099	M	0.44	0.56609	T	0.71	0.02130	N	0.135	0.13198	-0.9298	0.44168	T	0.121	0.42058	T	10	0.0029107034	0.00047	T	.	.	.	0.101	0.28911	.	.	0.166414681773	0.16258	0.6049456246572906	0.60425	1.69134969673	0.90132	0.676560103893	0.63776	T	0.009468	0.08620	T	-0.430063	0.01481	T	-0.366158	0.37338	T	0.0239424817061536	0.01138	T	0.553245	0.19112	T	0.18322791	0.39580	0.17690974	0.40257	0.18322791	0.39580	0.17690974	0.40257	-4.559	0.31652	T	.	.	0.132	0.28550	B	.	.	1.626469	0.20771	14.90	0.97113217363356841	0.32422	0.14666	0.18523	N	AEFGBCI	0.177914	0.30517	N	-0.575316679759639	0.19696	1.032871	-0.530826938593484	0.21318	1.152666	0.999998741226594	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.493711	0.08198	1	0.735409	0.98432	0	.	.	4.68	3.75	0.42236	0.274000	0.18443	1.114000	0.24184	0.583000	0.30283	0.000000	0.06391	0.603000	0.25729	0.024000	0.12247	0.0:0.5763:0.4237:0.0	10.775	0.45548	988	0.01987	.	.	.	.	.	.	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	0.003058	0.000000	0.001362	0.005917	0.000000	0.017544	0.003067	0.003788	0.02632	1621.33	36	chr9	137279855	.	C	A	1621.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.683;DP=808;ExcessHet=0;FS=0.664;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.076;SOR=0.593	GT:AD:DP:GQ:PL	0/1:66,62:128:99:1635,0,1699	18	0	1	0
chr9	138023729	138023729	A	0	exonic	CACNA1B	.	.	.	.	350	755	29	2	386	419	0.0213869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	572.82	69	chr9	138023729	.	A	*	572.82	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.352;DP=868;ExcessHet=2.0135;FS=4.594;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=-1.176;SOR=0.925	GT:AD:DP:GQ:PL	0/1:30,19:49:99:708,0,1202	14	0	5	0
chr9	138049278	138049278	A	G	exonic	CACNA1B	.	nonsynonymous SNV	CACNA1B:NM_000718:exon24:c.A3673G:p.I1225V,CACNA1B:NM_001243812:exon24:c.A3673G:p.I1225V	.	415	1102	5	0	0	5	0.00226347	.	.	.	723504	not_provided|Neurodevelopmental_disorder_with_seizures_and_nonepileptic_hyperkinetic_movements	MedGen:C3661900|MONDO:MONDO:0032784,MedGen:C5193128,OMIM:618497	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.483	.	.	0.00479233	0.0028	0.0001	8.646e-05	0	0	2.997e-05	0.0089	0.0199	0.0024385	377	154602	rs200164302	0.0011	0.0011	0.0006	0.0016	0.0176	0.0011	0.0010	0.0168	0.0165	2.988e-05	4.472e-05	0	0.0001	0	0.0007	2.879e-05	0.0008	0.0176	0.0006	0.0006	0.0003	0.0010	0.0189	0.0005	0.0005	0.0157	0.0146	0	0	0.0003	0	0	0	0	1.47e-05	0	0.0189	0.534	0.06935	T	0.473	0.12316	T	0.561	0.38362	P	0.678	0.53406	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.045	0.04980	N	-4.85	0.98245	D	-0.76	0.21215	N	0.331	0.44187	0.573	0.91543	D	0.865	0.95492	D	10	0.010905832	0.00241	T	.	.	.	0.483	0.77271	0.598	0.72862	0.697160472205	0.69454	0.7219969112671382	0.72143	0.752973457457	0.63868	0.816908121109	0.84554	D	0.596781	0.87018	D	-0.229825	0.16673	T	-0.0873089	0.64364	T	0.0339205168842166	0.02624	T	0.789921	0.43036	T	0.13312837	0.30975	0.14906323	0.35210	0.10892519	0.25753	0.12342605	0.29761	-8.997	0.68305	D	.	.	0.100	0.21125	B	.;.;.;.;.;.	.;.;.;.;.;.	3.318358	0.45624	22.2	0.96709896358550784	0.30807	0.95956	0.66886	D	AEFDBI	0.833102	0.75137	D	-0.103331022044878	0.37247	2.164311	0.0399256365259845	0.41589	2.501013	0.835166819472008	0.24765	0.514905	0.20481	0	0.59043	0.45803	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	5.13	3.96	0.45097	5.184000	0.64908	3.571000	0.39123	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9232:0.0:0.0767:0.0	10.755	0.45429	988	0.01987	.;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1671.33	34	chr9	138049278	.	A	G	1671.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.958;DP=811;ExcessHet=0;FS=1.421;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-1.665;SOR=0.544	GT:AD:DP:GQ:PL	0/1:65,66:131:99:1685,0,1746	18	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	3198.86	113	chr10	825249	.	T	C	3198.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.463;DP=2358;ExcessHet=31.086;FS=172.694;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.83;SOR=12.863	GT:AD:DP:GQ:PL	0/1:99,34:133:66:66,0,1762	2	0	17	0
chr10	1363834	1363834	C	T	exonic	ADARB2	.	nonsynonymous SNV	ADARB2:NM_018702:exon3:c.G271A:p.G91S	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	.	0.0121805	0.0148	0.0019	0.0309	0.0933	0.0608	0.0036	0.0151	0.0015	0.0065588	1014	154602	rs3750673	0.0034	0.0036	0.0035	0.0034	0.0568	0.0033	0.0033	0.0548	0.0540	0.0003	0.0134	0.0081	0.0568	0.0272	0.0011	0.0005	0.0053	0.0019	0.0056	0.0057	0.0040	0.0073	0.0554	0.0053	0.0052	0.0502	0.0481	0.0006	0	0.0038	0.0081	0.0554	0.0340	0	0.0012	0.0019	0.0031	0.09	0.31987	T	0.429	0.13752	T	0.006	0.13644	B	0.005	0.11217	B	0.026363	0.25931	N	0.435765	1	0.08975	N	2.14	0.59869	M	1.93	0.22881	T	-1.75	0.41428	N	0.125	0.11769	-1.0547	0.13119	T	0.009	0.03359	T	10	0.0018898547	0.00026	T	.	.	.	0.022	0.04323	.	.	.	.	0.1614364048257781	0.16064	0.85957541959	0.68897	0.351065099239	0.18079	T	0.028487	0.20623	T	-0.660718	0.00062	T	-0.67629	0.07212	T	0.0070833988363616	0.00081	T	0.467153	0.13745	T	0.037960928	0.04967	0.05117929	0.08186	0.037960928	0.04967	0.05117929	0.08185	-4.582	0.31945	T	.	.	0.085	0.09965	B	.	.	0.613520	0.09819	6.584	0.92013460640560762	0.21350	0.13540	0.17914	N	AEFDBCI	0.133651	0.25339	N	-1.13026609352469	0.06111	0.2804296	-1.17397948519098	0.06348	0.3052488	0.10143755251586	0.16378	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.95	0.995	0.18956	1.228000	0.32190	2.101000	0.30604	-2.543000	0.00250	0.000000	0.06391	0.082000	0.22400	0.002000	0.04165	0.0:0.6619:0.1255:0.2126	6.93	0.23615	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	0	0	0.003061	0.000000	0.000000	0.000000	0.000000	0.000000	0.009202	0.007576	0.02632	1569.33	33	chr10	1363834	.	C	T	1569.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4;DP=810;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=0.243;SOR=0.687	GT:AD:DP:GQ:PL	0/1:44,53:97:99:1583,0,1012	18	0	1	0
chr10	16925418	16925418	T	C	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon43:c.A6469G:p.N2157D	Megaloblastic anemia-1, Finnish type, Autosomal recessive	1	1505	15	1	0	17	0.00561612	.	.	.	684155	not_provided|Imerslund-Grasbeck_syndrome|See_cases|Imerslund-Grasbeck_syndrome_type_1	MedGen:C3661900|MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858|.|MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.322	.	0.0054	0.00319489	0.0056	0.0012	0.0044	0	0.0144	0.0071	0.0077	0.0025	0.005181	801	154602	rs144360241	0.0052	0.0052	0.0051	0.0053	0.0205	0.0051	0.0050	0.0175	0.0163	0.0008	0.0031	0.0066	0	0.0134	0.0205	0.0053	0.0051	0.0026	0.0053	0.0053	0.0053	0.0053	0.0065	0.0050	0.0048	0.0060	0.0058	0.0012	0	0.0052	0.0063	0	0.0173	0.0170	0.0065	0.0061	0.0019	0.217	0.19157	T	0.031	0.53788	D	1.0	0.90584	D	0.99	0.78936	D	0.000117	0.50451	D	0.000000	0.998513	0.45021	D	0.43	0.12624	N	2.05	0.20664	T	-4.22	0.75854	D	0.77	0.76760	-1.0915	0.05286	T	0.053	0.22501	T	10	0.020251662	0.00464	T	.	.	.	0.322	0.64420	.	.	0.618957995044	0.61587	0.7563220409290017	0.75580	0.468211300849	0.46174	0.475276261568	0.35408	T	0.232793	0.59944	T	-0.418902	0.01738	T	-0.370774	0.36798	T	0.0130285042958418	0.00227	T	0.661134	0.27033	T	0.41620767	0.61839	0.4079235	0.65124	0.41620767	0.61839	0.4079235	0.65124	-5.39	0.40823	T	0.4753071230537675	0.55498	0.240	0.47459	B	.	.	3.512344	0.49190	22.7	0.9978035496376344	0.86693	0.99506	0.96851	D	AEFBI	0.866429	0.78585	D	0.425530577525167	0.62831	4.50557	0.457775295356004	0.65217	4.796047	0.999993809970639	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	7.201000	0.77364	5.041000	0.46911	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.0:0.0:1.0	15.441	0.74911	803	0.44167	CUB domain|CUB domain|CUB domain|CUB 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	0	0	1	0	0.011581	0.020202	0.008152	0.023392	0.000000	0.017241	0.009146	0.003788	0.02632	1129.33	59	chr10	16925418	.	T	C	1129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.769;DP=1232;ExcessHet=0;FS=1.894;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.44;MQRankSum=0.496;QD=14.86;ReadPosRankSum=-0.696;SOR=0.838	GT:AD:DP:GQ:PL	0/1:38,38:76:99:1143,0,1175	18	0	1	0
chr10	17321030	17321030	T	G	exonic	ST8SIA6	.	nonsynonymous SNV	ST8SIA6:NM_001004470:exon8:c.A1045C:p.T349P,ST8SIA6:NM_001345961:exon9:c.A592C:p.T198P	.	.	.	.	.	.	.	.	.	.	.	3323551	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.209	0.0172741162593	.	.	9.064e-05	0	0	0	0	0.0002	0	0	7.76e-05	12	154602	rs200001781	5.131e-05	5.13e-05	4.356e-05	5.913e-05	6.205e-05	4.192e-05	3.823e-05	4.987e-05	4.568e-05	0	2.236e-05	0	0	0	0	6.205e-05	8.279e-05	0	7.228e-05	7.219e-05	7.713e-05	6.72e-05	0.0001	3.971e-05	3.127e-05	6.807e-05	5.089e-05	0	0	0.0001	0	0	0	0	0.0001	0	0	0.123	0.27544	T	0.056	0.46632	T	0.988	0.62325	D	0.796	0.58006	P	0.004635	0.33547	N	0.372956	1	0.08975	N	2.545	0.74286	M	1.85	0.24472	T	-0.5	0.15782	N	0.126	0.11912	-0.9193	0.45648	T	0.124	0.42694	T	10	0.15977332	0.30012	T	0.017274	0.38900	T	0.209	0.49871	0.543	0.65589	0.425028116352	0.42120	0.6001936262529679	0.59950	0.234047298348	0.25940	0.391147613525	0.23832	T	0.006823	0.06247	T	-0.259356	0.12976	T	-0.384622	0.35181	T	0.322705049179757	0.25931	T	0.738826	0.35731	T	0.10624513	0.25122	0.1420453	0.33806	0.10624513	0.25122	0.1420453	0.33805	-11.299	0.81272	D	.	.	0.341	0.55950	A	.	.	4.088153	0.60867	24.3	0.994365616396782	0.64522	0.93069	0.57249	D	AEFGBI	0.559498	0.56829	D	0.338042495215457	0.58111	3.981604	0.2261429026486	0.51304	3.313974	5.89381941672762E-4	0.07390	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.48	4.35	0.51454	1.497000	0.35257	4.864000	0.45499	0.665000	0.62972	0.991000	0.37257	1.000000	0.68203	0.963000	0.52385	0.147:0.15:0.0:0.7031	4.832	0.12808	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	.	.	.	.	.	.	.	.	0.02632	2594.33	35	chr10	17321030	.	T	G	2594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.625;DP=801;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-0.881;SOR=0.668	GT:AD:DP:GQ:PL	0/1:79,93:172:99:2608,0,2311	18	0	1	0
chr10	24591266	24591266	G	C	exonic	ARHGAP21	.	nonsynonymous SNV	ARHGAP21:NM_001367455:exon17:c.C3470G:p.T1157S,ARHGAP21:NM_001367452:exon21:c.C3638G:p.T1213S,ARHGAP21:NM_001367447:exon23:c.C4079G:p.T1360S,ARHGAP21:NM_001367451:exon23:c.C4079G:p.T1360S,ARHGAP21:NM_001367453:exon23:c.C4079G:p.T1360S,ARHGAP21:NM_001367448:exon24:c.C4109G:p.T1370S,ARHGAP21:NM_001367454:exon24:c.C4109G:p.T1370S,ARHGAP21:NM_020824:exon24:c.C4109G:p.T1370S,ARHGAP21:NM_001367449:exon25:c.C3815G:p.T1272S,ARHGAP21:NM_001367450:exon26:c.C3815G:p.T1272S	.	455	1053	13	1	0	15	0.00707214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00915019941334	7.7e-05	0.000998403	0.0010	0	0.0004	0	0	0.0003	0.0011	0.0061	0.0008603	133	154602	rs199701715	0.0005	0.0005	0.0003	0.0006	0.0057	0.0004	0.0004	0.0052	0.0051	0	0.0006	0.0005	0	0	0.0024	6.925e-05	0.0008	0.0057	0.0004	0.0004	0.0002	0.0005	0.0064	0.0003	0.0003	0.0047	0.0041	4.811e-05	0	0.0009	0.0003	0	0	0	8.82e-05	0	0.0064	0.241	0.17643	T	0.784	0.05544	T	.	.	.	.	.	.	0.000341	0.45700	N	0.251692	0.995744	0.42835	D	.	.	.	2.81	0.10975	T	-0.03	0.07444	N	0.206	0.26233	-1.0692	0.09590	T	0.026	0.11176	T	10	0.0091769695	0.00207	T	0.00915	0.24059	T	0.085	0.24743	.	.	0.0675242888579	0.06100	0.6428076379555379	0.64215	0.456773643813	0.45333	0.808417797089	0.83250	D	.	.	.	-0.631989	0.00093	T	-0.678112	0.07099	T	0.029302182148403	0.01883	T	0.692631	0.38847	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.29200	B	.;.;.;.	.;.;.;.	2.421349	0.31137	18.65	0.95739542380546006	0.27695	0.98203	0.80502	D	AEFGBI	0.689989	0.65047	D	-0.21159785762007	0.32657	1.844122	-0.0752320926809104	0.36418	2.119086	0.998966449906038	0.38084	0.562547	0.31514	0	0.546412	0.12157	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.63	3.76	0.42368	4.889000	0.62862	7.459000	0.59036	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0667:0.1228:0.8105:0.0	11.879	0.51841	963	0.08280	.;.;.;.	.	.	.	.	.	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	0.002016	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.003788	0.02632	679.33	35	chr10	24591266	.	G	C	679.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.734;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.616;SOR=0.793	GT:AD:DP:GQ:PL	0/1:21,31:52:99:693,0,448	18	0	1	0
chr10	32018536	32018536	G	A	exonic	KIF5B	.	nonsynonymous SNV	KIF5B:NM_004521:exon21:c.C2333T:p.A778V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	0.183617537704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.84e-07	0	1.376e-06	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.141	0.33442	T	0.963	0.55692	D	0.839	0.60107	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.045	0.86684	M	-1.49	0.81235	T	-3.12	0.63782	D	0.608	0.62526	0.466	0.90059	D	0.663	0.88314	D	10	0.66182333	0.70198	D	0.183618	0.85696	D	0.541	0.80842	0.1	0.01484	0.65428046772	0.65140	0.4212017276699165	0.42036	1.22561102355	0.81198	0.840785741806	0.88214	D	0.670654	0.90220	D	0.199361	0.73832	D	0.0485922	0.73492	D	0.973160803318024	0.69986	D	0.978652	0.92496	D	0.3930181	0.60245	0.35077143	0.60681	0.3930181	0.60246	0.35077143	0.60681	-9.682	0.71986	D	.	.	0.967	0.88913	P	.	.	5.571381	0.92222	32	0.99905678220591743	0.97651	0.99869	0.99902	D	AEFGBI	0.883993	0.81333	D	0.843444946677632	0.88730	9.690119	0.808590452815072	0.90386	10.38289	0.999999999986624	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.9	4.9	0.63643	9.355000	0.96491	11.882000	0.98861	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.416	0.90516	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1749.33	35	chr10	32018536	.	G	A	1749.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.179;DP=764;ExcessHet=0;FS=0.734;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=-1.067;SOR=0.593	GT:AD:DP:GQ:PL	0/1:49,68:117:99:1763,0,1260	18	0	1	0
chr10	35640371	35640371	-	GCGCCCCCA	exonic	FZD8	.	nonframeshift insertion	FZD8:NM_031866:exon1:c.1058_1059insTGGGGGCGC:p.A356_A357insGGA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1423225902	1.187e-06	3.423e-06	2.217e-06	0	1.312e-06	0	0	.	.	0	0	0	0	0	0	1.312e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	487.8	33	chr10	35640371	.	C	CGCGCCCCCA	487.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.674;DP=346;ExcessHet=0.119;FS=2.969;InbreedingCoeff=-0.0398;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=23.23;ReadPosRankSum=0;SOR=0.18	GT:AD:DP:GQ:PL	0/1:7,5:12:99:189,0,270	17	0	2	0
chr10	43481722	43481722	C	T	exonic	ZNF487	.	nonsynonymous SNV	ZNF487:NM_001355447:exon3:c.C436T:p.R146C,ZNF487:NM_001355449:exon3:c.C331T:p.R111C,ZNF487:NM_001355450:exon3:c.C331T:p.R111C,ZNF487:NM_001355444:exon4:c.C424T:p.R142C,ZNF487:NM_001355445:exon4:c.C424T:p.R142C,ZNF487:NM_001355448:exon4:c.C532T:p.R178C,ZNF487:NM_001355446:exon5:c.C424T:p.R142C	.	433	1082	5	2	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.00358775226534	.	0.000199681	0.0013	0	0.0043	0	0	0	0	0.0028	0.0001294	20	154602	rs531827230	0.0004	0.0003	0.0002	0.0005	0.0024	0.0003	0.0003	0.0021	0.0019	0	8.667e-05	0	0.0001	0	0.0015	0.0001	0.0004	0.0024	0.0002	0.0002	0.0001	0.0003	0.0023	0.0001	0.0001	0.0013	0.0010	2.409e-05	0	6.545e-05	0	0.0002	0	0.0034	0.0002	0.0005	0.0023	0.005	0.63226	D	0.02	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.990198	0.24202	N	.	.	.	2.2	0.18570	T	-1.42	0.35991	N	0.13	0.12484	-1.0307	0.20227	T	0.029	0.12409	T	7	0.007925361	0.00180	T	0.003588	0.08216	T	0.118	0.32913	.	.	0.0762999501168	0.06990	.	.	1.35134283137	0.84084	0.265641987324	0.05581	T	.	.	.	-0.369538	0.03617	T	-0.466871	0.25853	T	0.0587710347603347	0.06973	T	0.527447	0.17405	T	.	.	.	.	.	.	.	.	-3.982	0.23533	T	.	.	.	.	.	.;.	.;.	1.713987	0.21823	15.36	0.89416181618507928	0.18778	0.00323	0.01694	N	AEFGBCI	0.048301	0.08228	N	-0.762117365444563	0.14307	0.7115589	-0.901211671129335	0.12065	0.6184949	0.989100072397463	0.31724	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	1.71	1.71	0.23429	1.287000	0.32889	-12.359000	0.00531	0.434000	0.20985	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	9.418	0.37693	842	0.36989	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	3245.83	33	chr10	43481722	.	C	T	3245.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0;DP=867;ExcessHet=0.119;FS=1.046;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=1.48;SOR=0.787	GT:AD:DP:GQ:PL	0/1:57,57:114:99:1557,0,1612	17	0	2	0
chr10	46329920	46329920	C	A	exonic	ANTXRL	.	nonsynonymous SNV	ANTXRL:NM_001278688:exon17:c.C1732A:p.Q578K,ANTXRL:NM_001354208:exon19:c.C838A:p.Q280K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.227e-07	6.84e-07	0	1.465e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.05805	T	.	.	.	.	.	.	.	.	.	.	0.987805	0.40652	D	1.355	0.33814	L	.	.	.	.	.	.	0.088	0.06587	.	.	.	.	.	.	.	0.06710389	0.09300	T	.	.	.	.	.	.	.	0.0954503805726	0.09146	0.1350953353567757	0.13433	.	.	.	.	.	0.001092	0.00611	T	-0.318661	0.07007	T	-0.695511	0.06074	T	.	.	.	0.339966	0.07337	T	0.049465477	0.08786	0.06439283	0.12899	0.049465477	0.08786	0.06439283	0.12898	-4.906	0.35802	T	.	.	0.087	0.11317	B	.	.	0.121548	0.05188	1.703	0.76162119038858755	0.11358	0.00456	0.02204	N	AEFDGBI	0.046102	0.07616	N	.	.	.	.	.	.	0.99881393713354	0.37733	0.487112	0.14033	0	0.59043	0.45803	0	0.607795	0.38427	0	0.564101	0.26826	0	.	.	2.27	-2.46	0.06089	-0.871000	0.04331	-1.236000	0.05946	0.547000	0.25779	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4087:0.3103:0.0:0.281	2.387	0.04103	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	.	.	.	.	.	.	.	.	0.05263	7052.83	130	chr10	46329920	.	C	A	7052.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.99;DP=2170;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=0.289;SOR=0.725	GT:AD:DP:GQ:PL	0/1:125,116:241:99:3182,0,3347	17	0	2	0
chr10	47474331	47474331	G	A	exonic	ANXA8	.	nonsynonymous SNV	ANXA8:NM_001271703:exon6:c.C434T:p.T145M,ANXA8:NM_001040084:exon8:c.C620T:p.T207M,ANXA8:NM_001271702:exon8:c.C734T:p.T245M	.	557	954	11	0	0	11	0.00573215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00947507258297	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416919198	0.0015	0.0018	0.0014	0.0016	0.0181	0.0014	0.0014	0.0147	0.0135	0.0010	0.0018	0.0038	7.506e-05	0.0005	0.0181	0.0014	0.0027	0.0011	0.0020	0.0023	0.0021	0.0019	0.0062	0.0018	0.0017	0.0052	0.0048	0.0005	0.0012	0.0062	0.0053	0	0.0002	0.0250	0.0021	0.0015	0.0021	.	.	.	0.035	0.56640	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.5	0.05014	T	.	.	.	0.208	0.39052	.	.	.	.	.	.	.	0.03975299	0.02489	T	.	.	.	.	.	.	.	.	.	0.4310750636228678	0.43024	.	.	.	.	.	0.136864	0.50197	T	.	.	.	.	.	.	.	.	.	0.972453	0.90263	D	.	.	.	.	.	.	.	.	-7.895	0.62647	D	.	.	0.177	0.38676	B	.;.;.;.	.;.;.;.	3.787850	0.54506	23.5	.	.	.	.	.	.	0.077809	0.15685	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.572000	0.23387	2.642000	0.33760	0.477000	0.22036	0.455000	0.26605	0.998000	0.33993	0.581000	0.30918	.	.	.	.	.	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	512.33	34	chr10	47474331	.	G	A	512.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=772;ExcessHet=0;FS=0.815;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.64;MQRankSum=0.252;QD=3.66;ReadPosRankSum=-1.206;SOR=0.569	GT:AD:DP:GQ:PL	0/1:112,28:140:99:526,0,2991	18	0	1	0
chr10	50104143	50104143	G	C	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1737C:p.E579D,WASHC2A:NM_001291398:exon18:c.G1737C:p.E579D,WASHC2A:NM_001330102:exon18:c.G1737C:p.E579D	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0028	0.0005	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	0.0002	2.474e-05	0.0002	7.586e-05	0	0.0005	0.0006	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.37966	T	0.221	0.40110	T	0.99	0.68779	D	0.547	0.64423	P	0.000196	0.48115	D	0.177367	0.999984	0.54805	D	.	.	.	.	.	.	-1.59	0.38345	N	0.186	0.31027	-0.6951	0.60670	T	0.262	0.63350	T	9	0.10016841	0.18224	T	0.007039	0.18649	T	0.051	0.14325	0.155	0.05858	0.043077524339	0.03247	0.022149042639061214	0.02166	.	.	0.526520252228	0.42544	T	0.037049	0.24331	T	-0.02398	0.48284	T	-0.272222	0.47596	T	0.870236992835999	0.52015	D	0.754025	0.40374	T	0.065394446	0.13970	0.08041676	0.18189	0.065394446	0.13970	0.08041676	0.18189	-6.64	0.51357	T	.	.	0.173	0.37914	B	.;.;.;.;.	.;.;.;.;.	5.655948	0.92841	33	0.99770114452793413	0.85834	0.83358	0.42481	D	AEFI	0.285651	0.39823	N	0.0769491637248871	0.45389	2.796276	0.0072360960145605	0.40050	2.384071	7.07449565220211E-5	0.04366	0.706548	0.73137	0	0.670034	0.63936	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	3.2	0.35826	3.444000	0.52678	8.361000	0.77030	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2333	1477.75	133	chr10	50104143	.	G	C	1477.75	.	AC=7;AF=0.233;AN=30;BaseQRankSum=-1.885;DP=1275;ExcessHet=5.3738;FS=165.811;InbreedingCoeff=-0.429;MLEAC=8;MLEAF=0.267;MQ=56.17;MQRankSum=0.546;QD=2.07;ReadPosRankSum=1.01;SOR=10.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,15:50:83:0|1:50104141_G_C:83,0,1148:50104141	8	0	7	4
chr10	50104144	50104144	G	A	splicing	WASHC2A	NM_001291398:exon18:c.1737+1G>A;NM_001330102:exon18:c.1737+1G>A;NM_001005751:exon18:c.1737+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0463318	0.57869	T	-0.171224	0.57330	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.720867	0.93226	33	0.97432250228662731	0.33931	0.91899	0.54504	D	AEFI	.	.	.	0.701995888035694	0.79764	7.146901	0.445472292793738	0.64426	4.697596	7.07449565220211E-5	0.04366	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.221052	0.04502	0	0.694248	0.42717	3.2	3.2	0.35826	5.024000	0.63865	11.562000	0.93235	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08824	1433.55	133	chr10	50104144	.	G	A	1433.55	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-3.127;DP=1257;ExcessHet=5.3738;FS=151.293;InbreedingCoeff=-0.3711;MLEAC=3;MLEAF=0.088;MQ=55.97;MQRankSum=0.546;QD=2.01;ReadPosRankSum=0.853;SOR=10.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,15:50:83:0|1:50104141_G_C:83,0,1148:50104141	14	0	3	2
chr10	68199417	68199417	C	T	exonic	MYPN	.	nonsynonymous SNV	MYPN:NM_032578:exon17:c.C3335T:p.P1112L,MYPN:NM_001256267:exon18:c.C3335T:p.P1112L,MYPN:NM_001256268:exon21:c.C2453T:p.P818L	Cardiomyopathy, dilated, 1KK, Autosomal dominant;Cardiomyopathy, familial restrictive, 4, Autosomal dominant;Cardiomyopathy, hypertrophic, 22, Autosomal dominant;Nemaline myopathy 11, autosomal recessive, Autosomal recessive	0	1468	53	1	0	55	0.0183885	.	.	.	40451	Dilated_cardiomyopathy_1KK|Familial_hypertrophic_cardiomyopathy_22|Cardiomyopathy|Hypertrophic_cardiomyopathy|Primary_dilated_cardiomyopathy|not_provided|Cardiovascular_phenotype|not_specified	MONDO:MONDO:0014100,MedGen:C3714995,OMIM:615248,Orphanet:154,Orphanet:75249|MedGen:C3714998|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:C3661900|MedGen:CN230736|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.445	0.0451777984656	0.0021	0.00259585	0.0030	0.0014	0.0026	0.0002	0.0005	0.0033	0.0088	0.0056	0.002846	440	154602	rs71534278	0.0024	0.0024	0.0023	0.0025	0.0246	0.0023	0.0023	0.0213	0.0201	0.0017	0.0038	0.0100	5.039e-05	0.0007	0.0246	0.0019	0.0039	0.0061	0.0025	0.0025	0.0023	0.0027	0.0052	0.0023	0.0022	0.0041	0.0037	0.0013	0	0.0050	0.0121	0	0.0007	0.0408	0.0022	0.0057	0.0052	0.053	0.38863	T	0.01	0.70582	D	0.999	0.77913	D	0.975	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.24	0.30952	L	-0.3	0.67874	T	-5.4	0.85103	D	0.536	0.62696	-0.6457	0.62900	T	0.240	0.60762	T	9	0.010449231	0.00232	T	0.045178	0.61853	D	0.445	0.74727	.	.	0.820044168459	0.81835	0.4913990938604239	0.49060	0.619803596011	0.56319	0.556120693684	0.46720	T	0.120118	0.44213	T	-0.16404	0.26139	T	0.000986146	0.70400	D	0.0206300320422611	0.00763	T	0.963704	0.86510	D	0.410868	0.61477	0.4796276	0.69860	0.4098049	0.61406	0.47645545	0.69665	-11.123	0.81267	D	.	.	0.139	0.40746	B	.;.;.;.	.;.;.;.	4.412194	0.68264	25.2	0.99910848685926734	0.98022	0.97039	0.72336	D	AEFBI	0.823586	0.74366	D	0.577579034945464	0.71777	5.70273	0.62738643556054	0.76936	6.583804	0.999968123657575	0.48965	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.38	5.38	0.77279	6.010000	0.70411	7.625000	0.62478	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.998000	0.85391	0.1493:0.8507:0.0:0.0	14.201	0.65244	929	0.16858	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	.	.	.	.	.	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	0.016129	0.030303	0.016304	0.026316	0.000000	0.025862	0.009202	0.007576	0.02632	1710.33	40	chr10	68199417	.	C	T	1710.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=871;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=0.096;SOR=0.741	GT:AD:DP:GQ:PL	0/1:73,63:136:99:1724,0,2002	18	0	1	0
chr10	68442975	68442975	G	A	exonic	DNA2	.	stopgain	DNA2:NM_001080449:exon9:c.C1357T:p.Q453X	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017433	0.27726	N	0.407511	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.945	0.96187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive	.;.;High	7.719351	0.96795	36	0.99687643846168594	0.79708	0.74494	0.36443	D	AEFBI	0.074243	0.14875	N	0.661204817776327	0.77096	6.609309	0.499812235520014	0.67979	5.157059	0.393615813435153	0.20068	0.67177	0.52595	0	0.614415	0.52539	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.54	3.66	0.41111	2.207000	0.42426	5.570000	0.48940	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.07:0.1275:0.5395:0.263	5.109	0.14132	851	0.35303	.;.;.	.	.	.	.	.	Uncertain significance	1	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	.	.	.	.	.	.	.	.	0.02632	1625.33	36	chr10	68442975	.	G	A	1625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.894;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=1.68;SOR=0.721	GT:AD:DP:GQ:PL	0/1:65,66:131:99:1639,0,1752	18	0	1	0
chr10	71646514	71646514	C	T	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon13:c.C1346T:p.T449I,CDH23:NM_001171931:exon13:c.C1346T:p.T449I,CDH23:NM_022124:exon13:c.C1346T:p.T449I,CDH23:NM_052836:exon13:c.C1346T:p.T449I	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1427289	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.109	0.0116265132107	.	.	8.28e-06	0	8.639e-05	0	0	0	0	0	6.5e-06	1	154602	rs200997507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.567e-06	1.312e-05	0	1.343e-05	2.407e-05	0	0	.	.	2.407e-05	0	0	0	0	0	0	0	0	0	0.173	0.22573	T	0.136	0.49942	T	0.042	0.27759	B	0.056	0.26147	B	0.244918	0.15632	N	0.634983	0.990644	0.27809	N	1.9	0.50570	L	0.54	0.54911	T	-2.49	0.54217	N	0.509	0.58287	-0.8780	0.49919	T	0.177	0.52193	T	10	0.25866407	0.43295	T	0.011627	0.29446	T	0.109	0.30843	0.503	0.59615	0.840962336824	0.83944	0.2884073806905805	0.28753	.	.	0.380684345961	0.22353	T	0.029363	0.65195	T	-0.0831732	0.39196	T	-0.357249	0.38371	T	0.941009640693665	0.61385	D	0.868913	0.66280	D	0.057527836	0.11460	0.1023939	0.24539	0.057527836	0.11459	0.1023939	0.24538	-4.868	0.39406	T	.	.	0.100	0.29615	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.425708	0.31199	18.67	0.99788374421115478	0.87396	0.84299	0.43381	D	AEFDBI	0.393326	0.47102	N	0.0166064540191729	0.42610	2.57067	0.124530154576591	0.45808	2.837368	0.999998455831988	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.69	4.76	0.60189	3.699000	0.54511	2.724000	0.34335	0.599000	0.40250	0.999000	0.42656	0.070000	0.22201	0.866000	0.41154	0.2758:0.508:0.2162:0.0	9.299	0.36992	923	0.18507	Cadherin-like|Cadherin-like;Cadherin-like;Cadherin-like;.;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|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	.	.	.	.	.	.	.	.	0.02632	1208.33	40	chr10	71646514	.	C	T	1208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.642;DP=741;ExcessHet=0;FS=0.745;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-0.654;SOR=0.848	GT:AD:DP:GQ:PL	0/1:65,48:113:99:1222,0,1715	18	0	1	0
chr10	79558925	79558925	G	A	exonic	SFTPA2	.	nonsynonymous SNV	SFTPA2:NM_001320814:exon3:c.C283T:p.R95C,SFTPA2:NM_001098668:exon4:c.C253T:p.R85C,SFTPA2:NM_001320813:exon4:c.C253T:p.R85C	Pulmonary fibrosis, idiopathic, Autosomal dominant	0	1514	7	1	0	9	0.00296345	.	.	.	610609	not_specified|not_provided|Interstitial_lung_disease_2|SFTPA2-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0800029,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.512	.	0.0033	0.00479233	0.0030	0.0066	0.0018	0.0150	0.0002	0.0015	0.0011	0.0027	0.0027361	423	154602	rs150273659	0.0017	0.0018	0.0017	0.0017	0.0111	0.0016	0.0016	0.0103	0.0099	0.0073	0.0021	0.0015	0.0111	0.0007	0.0016	0.0011	0.0024	0.0025	0.0032	0.0033	0.0034	0.0031	0.0139	0.0030	0.0029	0.0113	0.0104	0.0062	0	0.0024	0.0012	0.0139	0.0003	0	0.0014	0.0028	0.0035	0.171	0.28646	T	0.141	0.35710	T	.	.	.	.	.	.	0.082360	0.20814	N	0.455646	0.976274	0.25384	N	.	.	.	-3.42	0.94348	D	-1.5	0.45769	N	0.224	0.25130	0.028	0.82813	D	0.681	0.88959	D	10	0.024403393	0.00670	T	.	.	.	0.512	0.79094	.	.	0.515317749148	0.51173	0.3400045411363246	0.33913	0.00348592063493	0.00296	0.59901702404	0.52765	T	.	.	.	-0.211272	0.19200	T	-0.0639298	0.66057	T	0.0124070116980244	0.00203	T	0.314569	0.06202	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.69456	B	.;.;.;.	.;.;.;.	1.120057	0.15057	11.55	0.81326281718247595	0.13630	0.02835	0.07581	N	AEFDGBI	0.079600	0.16080	N	-0.599691469529514	0.18954	0.9882423	-0.632123795399924	0.18670	0.9983821	2.38972542740888E-4	0.06095	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.87	2.87	0.32523	0.271000	0.18390	2.621000	0.33635	-3.590000	0.00073	0.013000	0.18845	0.292000	0.24171	0.000000	0.00833	0.0:0.0:1.0:0.0	9.543	0.38431	649	0.63102	.;.;.;.	.	.	.	.	.	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	0.004532	0.010101	0.005435	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	979.33	41	chr10	79558925	.	G	A	979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.485;DP=910;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.92;MQRankSum=0;QD=11.13;ReadPosRankSum=-0.651;SOR=0.622	GT:AD:DP:GQ:PL	0/1:45,43:88:99:993,0,1040	18	0	1	0
chr10	84184760	84184760	G	T	exonic	C10orf99	.	nonsynonymous SNV	C10orf99:NM_207373:exon3:c.G240T:p.Q80H	.	423	1087	11	1	0	13	0.00594422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0003	0.00399361	0.0040	0.0003	0.0132	0.0269	0.0002	0.0002	0	0.0048	0.0034993	541	154602	rs76221724	0.0016	0.0016	0.0015	0.0016	0.0277	0.0015	0.0015	0.0263	0.0258	0.0001	0.0094	0	0.0277	1.874e-05	0.0005	0.0002	0.0016	0.0047	0.0013	0.0013	0.0012	0.0014	0.0213	0.0012	0.0011	0.0181	0.0169	0.0003	0	0.0022	0	0.0213	0	0.0068	0.0002	0.0038	0.0046	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.006574	0.31942	U	0.000000	0.974334	0.25497	N	.	.	.	.	.	.	-4.0	0.74051	D	0.344	0.38541	-0.9836	0.34164	T	0.108	0.39270	T	8	0.0064013004	0.00145	T	.	.	.	0.141	0.37795	0.163	0.06730	0.144782658237	0.14088	0.14085334914174644	0.14008	0.0265774283151	0.02714	.	.	.	.	.	.	-0.341494	0.05285	T	-0.245056	0.50303	T	0.0888090099234062	0.11075	T	0.50325	0.15827	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.866	0.80659	P	.	.	1.803765	0.22927	15.82	0.99019210874948427	0.50548	0.70692	0.34696	D	AEFDBI	0.085898	0.17415	N	0.185296498331203	0.50492	3.238771	0.0723337538637086	0.43162	2.624	0.0043863099384363	0.10527	0.580535	0.33130	0	0.626922	0.53725	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.83	0.979	0.18864	0.060000	0.14220	1.113000	0.24175	-0.192000	0.09343	0.983000	0.35670	1.000000	0.68203	0.772000	0.36596	0.3425:0.0:0.6575:0.0	5.816	0.17752	933	0.16026	.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	904.33	40	chr10	84184760	.	G	T	904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.726;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.879;SOR=0.619	GT:AD:DP:GQ:PL	0/1:37,35:72:99:918,0,1026	18	0	1	0
chr10	84224338	84224338	A	T	exonic	LRIT2	.	nonsynonymous SNV	LRIT2:NM_001017924:exon2:c.T887A:p.F296Y,LRIT2:NM_001284223:exon2:c.T887A:p.F296Y	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0110556884717	.	0.000199681	0.0004	0	0	0.0048	0	0	0	0	0.0002717	42	154602	rs557065277	0.0001	0.0001	0.0001	0.0001	0.0040	9.764e-05	9.24e-05	0.0035	0.0033	0	0	0	0.0040	0	0	2.703e-06	3.322e-05	0	5.251e-05	5.905e-05	3.854e-05	6.712e-05	0.0015	2.555e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0	0.029	0.45756	D	0.122	0.35710	T	1.0	0.90584	D	0.989	0.78396	D	0.000116	0.50451	D	0.211530	0.999955	0.52396	D	1.75	0.45442	L	0.15	0.60734	T	-0.95	0.25332	N	0.568	0.59138	-0.6623	0.62175	T	0.289	0.66045	T	10	0.0129951835	0.00277	T	0.011056	0.28291	T	0.222	0.51872	0.591	0.71999	0.558735321446	0.55534	0.49060486321878705	0.48980	0.0241015122764	0.02450	0.614830672741	0.54998	T	0.003983	0.03393	T	-0.338519	0.05491	T	-0.260191	0.48807	T	0.151612971201699	0.17231	T	0.271373	0.12411	T	0.11188964	0.26437	0.11746	0.28354	0.11188964	0.26437	0.11746	0.28353	-3.709	0.19451	T	.	.	0.189	0.53119	B	.;.	.;.	3.962582	0.58130	23.9	0.99466629672916873	0.66102	0.11695	0.16802	N	AEFBCI	0.532168	0.55214	D	0.478873015916566	0.65858	4.876	0.472020806404529	0.66142	4.913805	0.0023770170942358	0.09366	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.542086	0.14980	0	.	.	5.76	4.6	0.56512	4.656000	0.61178	8.704000	0.78116	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8611:0.0:0.0:0.1389	11.109	0.47439	928	0.17405	.;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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1134.33	34	chr10	84224338	.	A	T	1134.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.775;DP=722;ExcessHet=0;FS=8.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=0.792;SOR=1.508	GT:AD:DP:GQ:PL	0/1:46,44:90:99:1148,0,1304	18	0	1	0
chr10	86943975	86943975	C	T	exonic	MMRN2	.	nonsynonymous SNV	MMRN2:NM_024756:exon6:c.G809A:p.R270H	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0007	0.0165735	0.0117	0.0014	0.0929	0.0293	0	0.0002	0.0122	0.0030	0.0111124	1718	154602	rs79370279	0.0039	0.0039	0.0043	0.0035	0.0857	0.0038	0.0038	0.0834	0.0825	0.0008	0.0857	0.0010	0.0297	3.751e-05	0.0003	9.442e-05	0.0036	0.0035	0.0057	0.0057	0.0052	0.0062	0.0394	0.0053	0.0052	0.0368	0.0358	0.0013	0	0.0394	0.0026	0.0295	0	0	0.0001	0.0061	0.0046	0.142	0.25457	T	0.168	0.30631	T	0.399	0.34817	B	0.045	0.24526	B	0.032632	0.25003	N	0.275088	1	0.08975	N	1.875	0.49914	L	1.74	0.26301	T	-2.17	0.49018	N	0.02	0.00308	-1.0486	0.14790	T	0.005	0.01761	T	10	0.0012760162	0.00014	T	.	.	.	0.014	0.01968	.	.	.	.	0.13091586771026503	0.13016	0.191107692456	0.21433	0.202728748322	0.00540	T	0.025512	0.28267	T	-0.697649	0.00038	T	-0.706357	0.05485	T	0.00220888174829873	0.00023	T	0.733627	0.34942	T	0.026193654	0.01647	0.038141362	0.03619	0.026193654	0.01646	0.038141362	0.03619	-5.83	0.44835	T	.	.	0.077	0.09385	B	.;.;.	.;.;.	0.570024	0.09383	6.166	0.96892145984026967	0.31504	0.07956	0.13940	N	AEFBCI	0.078683	0.15880	N	-1.02135040340029	0.08161	0.3817063	-1.04786421190714	0.08752	0.4318221	0.990600788575859	0.32208	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.19	0.593	0.16660	-0.203000	0.09440	-1.571000	0.05146	-0.182000	0.10109	0.003000	0.16062	0.000000	0.08366	0.785000	0.37106	0.1312:0.4309:0.0:0.4378	5.230	0.14738	863	0.32847	.;.;.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1830.33	40	chr10	86943975	.	C	T	1830.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=812;ExcessHet=0;FS=4.084;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-1.202;SOR=0.842	GT:AD:DP:GQ:PL	0/1:70,65:135:99:1844,0,1798	18	0	1	0
chr10	87020355	87020355	G	T	exonic	FAM25A	.	stopgain	FAM25A:NM_001146157:exon1:c.G31T:p.E11X	.	898	620	3	1	0	5	0.00401606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.0207668	0.0050	0.0013	0.0581	0.0452	0	0.0003	0.0243	0.0044	0.0025032	387	154602	rs183710110	0.0038	0.0037	0.0040	0.0037	0.0784	0.0038	0.0037	0.0759	0.0750	0.0011	0.0784	0.0005	0.0503	8.125e-05	0.0015	0.0001	0.0047	0.0040	0.0064	0.0064	0.0060	0.0068	0.0459	0.0060	0.0059	0.0411	0.0392	0.0014	0	0.0407	0.0014	0.0459	9.414e-05	0	0.0001	0.0071	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	0.001477	0.38917	N	0.113681	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.145	0.14622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.138216	0.30175	T	0.0912172	0.76327	D	0.0711016177321131	0.08804	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.631323	0.96710	36	0.98671876216155796	0.44484	0.50104	0.28586	D	AEFBI	0.078178	0.15769	N	0.0965991813669042	0.46304	2.872814	-0.200499002657013	0.31518	1.784525	9.51170337836964E-4	0.08054	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.25	2.4	0.28568	2.154000	0.41917	9.769000	0.81545	-0.135000	0.12811	0.985000	0.35982	1.000000	0.68203	0.004000	0.06068	0.1056:0.0:0.8944:0.0	10.469	0.43808	862	0.33134	.	.	.	.	.	.	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	0.001152	0.000000	0.000000	0.000000	0.000000	0.000000	0.005682	0.000000	0.02632	243.33	30	chr10	87020355	.	G	T	243.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=377;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.622;SOR=1.085	GT:AD:DP:GQ:PL	0/1:8,10:18:99:257,0,144	18	0	1	0
chr10	94733315	94733315	T	A	exonic	CYP2C18	.	nonsynonymous SNV	CYP2C18:NM_001128925:exon7:c.T991A:p.S331T,CYP2C18:NM_000772:exon8:c.T1168A:p.S390T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00489733498464	.	.	8.258e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs371155124	2.054e-06	2.052e-06	1.362e-06	2.752e-06	7.565e-05	5.5e-07	1.5e-07	2.006e-05	1.056e-05	0	0	0	7.565e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.19293	T	0.166	0.34009	T	0.055	0.22733	B	0.154	0.34351	B	0.054497	0.22721	U	0.374835	1	0.08975	N	2.41	0.69639	M	2.57	0.13552	T	-2.17	0.52612	N	0.28	0.36043	-1.0816	0.07041	T	0.070	0.28412	T	10	0.31899333	0.49291	T	0.004897	0.12318	T	0.057	0.16321	0.368	0.37687	0.306695030598	0.30287	0.1206661005302592	0.11993	0.0277816191239	0.02844	.	.	.	0.094856	0.39501	T	-0.422891	0.01640	T	-0.619529	0.11223	T	0.71992301940918	0.41695	D	0.50265	0.15781	T	0.13603969	0.31551	0.1767947	0.40238	0.13603969	0.31550	0.1767947	0.40237	-7.563	0.59306	D	.	.	0.195	0.41572	B	.;.	.;.	1.547528	0.19836	14.46	0.45751465843489558	0.03614	0.04243	0.09768	N	AEFI	0.411348	0.48186	N	-0.432185545067212	0.24349	1.314055	-0.588389769973738	0.19794	1.063682	4.01251165533724E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.05	2.83	0.32150	-0.505000	0.06448	0.572000	0.19617	0.657000	0.54293	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.1848:0.0:0.191:0.6242	4.799	0.12657	533	0.73433	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1967.33	37	chr10	94733315	.	T	A	1967.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=837;ExcessHet=0;FS=3.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.593;SOR=1	GT:AD:DP:GQ:PL	0/1:109,72:183:99:1981,0,3057	18	0	1	0
chr10	101010553	101010570	CGGCTACGGCTGCGGCTA	-	exonic	PDZD7	.	nonframeshift deletion	PDZD7:NM_001195263:exon15:c.2319_2336del:p.R779_S784del	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	5	1466	49	2	0	53	0.0177554	.	.	.	53293	PDZD7-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0056	0.0019	0.0115	0	0	0.0097	0	0.0040	0.0003458	9	26028	rs397516634	0.0103	0.0098	0.0105	0.0101	0.0229	0.0102	0.0101	0.0197	0.0184	0.0017	0.0045	0.0057	0.0002	0.0015	0.0229	0.0119	0.0094	0.0039	0.0067	0.0067	0.0070	0.0064	0.0110	0.0064	0.0062	0.0104	0.0101	0.0020	0.0022	0.0081	0.0023	0.0012	0.0008	0.0238	0.0110	0.0086	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3028.79	66	chr10	101010552	.	GCGGCTACGGCTGCGGCTA	G	3028.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.15;DP=1608;ExcessHet=0.119;FS=1.21;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=18.47;ReadPosRankSum=1.45;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,37:76:99:.:.:1421,0,1503:.	17	0	2	0
chr10	101010558	101010558	A	0	exonic	PDZD7	.	.	.	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	7	1461	48	2	4	56	0.0174849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1885.48	66	chr10	101010558	.	A	*	1885.48	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.261;DP=1633;ExcessHet=0.3672;FS=0.921;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=-0.049;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,37:76:99:.:.:1421,0,1503:.	17	0	2	0
chr10	101010570	101010570	A	0	exonic	PDZD7	.	.	.	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	64	116	447	888	7	2230	0.905499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	36003.9	65	chr10	101010570	.	A	*	36003.9	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.62;DP=1710;ExcessHet=5.3738;FS=0.593;InbreedingCoeff=-0.3103;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=22.03;ReadPosRankSum=0.358;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,37:73:99:.:.:2746,1130,1399:.	17	0	2	0
chr10	101022356	101022356	A	T	exonic	PDZD7	.	nonsynonymous SNV	PDZD7:NM_001195263:exon5:c.T572A:p.V191E,PDZD7:NM_001351044:exon5:c.T572A:p.V191E,PDZD7:NM_024895:exon5:c.T572A:p.V191E	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	.	.	.	.	.	.	.	.	.	.	194883	not_specified|not_provided|PDZD7-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.293	0.0355814120254	0.0066	0.00119808	0.0037	0.0013	0.0004	0	0.0012	0.0061	0.0022	0.0003	0.0041849	647	154602	rs118098246	0.0069	0.0069	0.0072	0.0066	0.0087	0.0068	0.0067	0.0085	0.0085	0.0012	0.0010	7.652e-05	2.519e-05	0.0012	0.0002	0.0087	0.0043	0.0002	0.0042	0.0042	0.0046	0.0039	0.0080	0.0040	0.0039	0.0074	0.0072	0.0014	0	0.0020	0	0	0.0004	0	0.0080	0.0043	0	0.004	0.65419	D	0.0	0.92824	D	0.95	0.53885	P	0.742	0.55764	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.515	0.73286	M	1.61	0.28391	T	-3.44	0.67477	D	0.628	0.65587	-1.0825	0.06871	T	0.050	0.21143	T	10	0.00952667	0.00215	T	0.035581	0.56436	D	0.293	0.61272	.	.	0.376790727695	0.37294	0.7444198046975368	0.74387	0.94884049527	0.72533	0.583483934402	0.50576	T	0.076859	0.35518	T	-0.261919	0.12677	T	-0.135379	0.60516	T	0.0279923960886035	0.01687	T	0.787321	0.42620	T	0.5460197	0.69734	0.5102061	0.71695	0.54917485	0.69911	0.52826184	0.72744	-9.916	0.85840	D	0.3981862166317721	0.49040	0.509	0.65546	A	.;.;.;.;.	.;.;.;.;.	4.548470	0.71561	25.7	0.98297832317804834	0.40011	0.98402	0.82409	D	AEFI	0.891911	0.82833	D	0.342182320750365	0.58328	4.004383	0.360358504533959	0.59136	4.088796	0.999997476426199	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.29	5.29	0.74430	6.080000	0.70936	10.995000	0.84717	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	1.0:0.0:0.0:0.0	15.218	0.72979	619	0.66147	.;.;.;.;.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	829.33	33	chr10	101022356	.	A	T	829.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.16;DP=719;ExcessHet=0;FS=5.802;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=0.169;SOR=1.374	GT:AD:DP:GQ:PL	0/1:53,33:86:99:843,0,1342	18	0	1	0
chr10	102812787	102812787	C	T	exonic	WBP1L	.	nonsynonymous SNV	WBP1L:NM_001083913:exon4:c.C548T:p.S183F,WBP1L:NM_017787:exon4:c.C485T:p.S162F	.	426	1089	6	1	0	8	0.00365965	.	.	.	3348978	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.129	0.0226775363593	.	.	0.0001	0	0	0	0	3.056e-05	0	0.0008	9.7e-05	15	154602	rs762607950	6.663e-05	6.635e-05	4.647e-05	8.701e-05	0.0014	5.585e-05	5.174e-05	0.0007	0.0005	0	0	0	0	0	0.0014	1.442e-05	0.0001	0.0007	3.288e-05	3.283e-05	2.571e-05	4.039e-05	0.0008	1.262e-05	7.98e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.471e-05	0	0.0008	0.004	0.65419	D	0.023	0.57104	D	0.967	0.56408	D	0.73	0.55268	P	0.079680	0.20970	N	0.573673	0.998383	0.44847	D	2.19	0.61577	M	1.74	0.26301	T	-2.2	0.49519	N	0.145	0.16028	-1.0933	0.05005	T	0.088	0.33968	T	10	0.055758536	0.06145	T	0.022678	0.45590	T	0.129	0.35316	0.158	0.06178	0.102598925029	0.09809	0.3219496408142394	0.32107	0.919069713651	0.71380	0.615348696709	0.55071	T	0.075336	0.35154	T	-0.417859	0.01766	T	-0.474968	0.24982	T	0.29658967256546	0.24862	T	0.881612	0.60121	D	0.069619305	0.15268	0.17050487	0.39165	0.069619305	0.15268	0.17050487	0.39164	-7.41	0.56975	T	.	.	0.168	0.36986	B	.;.	.;.	4.324945	0.66219	24.9	0.99869101913713221	0.94726	0.97205	0.73310	D	AEFDGBHCI	0.557233	0.56695	D	0.443673790642786	0.63845	4.626275	0.527947920285706	0.69878	5.423639	1.0	0.98316	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	6.05	6.05	0.98156	2.843000	0.47939	4.022000	0.41260	0.594000	0.32500	0.992000	0.37556	0.999000	0.35428	0.975000	0.56047	0.0:1.0:0.0:0.0	20.606	0.99468	576	0.70006	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1242.33	34	chr10	102812787	.	C	T	1242.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.728;DP=727;ExcessHet=0;FS=1.615;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-1.246;SOR=0.527	GT:AD:DP:GQ:PL	0/1:53,46:99:99:1256,0,1502	18	0	1	0
chr10	103622514	103622514	C	T	exonic	SH3PXD2A	.	nonsynonymous SNV	SH3PXD2A:NM_001365079:exon4:c.G401A:p.R134H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.123123595871	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1472972520	8.584e-06	8.893e-06	9.881e-06	7.251e-06	5.604e-05	4.58e-06	3.62e-06	9.28e-06	3.47e-06	3.165e-05	5.604e-05	0	2.798e-05	0	0	5.561e-06	1.725e-05	1.262e-05	1.97e-05	1.97e-05	0	4.033e-05	0.0002	5.24e-06	2.45e-06	.	.	2.412e-05	0	0	0	0	9.416e-05	0	0	0	0.0002	0.004	0.65419	D	0.013	0.63109	D	1.0	0.90584	D	0.993	0.81110	D	0.000035	0.55875	D	0.123911	0.999999	0.81001	D	0.895	0.22405	L	0.42	0.56937	T	-1.1	0.28497	N	0.363	0.40465	-0.1645	0.78561	T	0.389	0.74342	T	9	0.34697664	0.51641	T	0.123124	0.80423	D	0.203	0.48915	0.41	0.44559	0.744815322239	0.74252	.	.	.	.	.	.	.	0.01794	0.14550	T	-0.135373	0.30630	T	-0.22768	0.51997	T	0.531556904315948	0.33791	D	0.975602	0.91418	D	0.19237429	0.40904	0.12763037	0.30720	0.19237429	0.40904	0.12763037	0.30719	-7.357	0.56600	T	.	.	0.907	0.83231	P	.	.	5.515701	0.91729	32	0.99952920810315593	0.99957	0.91224	0.53104	D	AEFDGBCI	0.919140	0.88922	D	0.568483370912341	0.71215	5.617018	0.535795663478208	0.70414	5.501922	0.999999978342411	0.74766	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.72	3.8	0.42887	7.722000	0.83741	7.622000	0.62351	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8442:0.1558:0.0	13.755	0.62420	88	0.96322	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1151.33	33	chr10	103622514	.	C	T	1151.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.512;DP=713;ExcessHet=0;FS=3.152;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=0.015;SOR=0.372	GT:AD:DP:GQ:PL	0/1:31,48:79:99:1165,0,646	18	0	1	0
chr10	113622137	113622137	A	G	exonic	NRAP	.	nonsynonymous SNV	NRAP:NM_001322945:exon23:c.T2393C:p.I798T,NRAP:NM_006175:exon23:c.T2396C:p.I799T,NRAP:NM_001261463:exon24:c.T2501C:p.I834T,NRAP:NM_198060:exon24:c.T2501C:p.I834T	.	431	1070	19	2	0	23	0.0106334	.	.	.	3213535	not_specified|not_provided|NRAP-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.367	0.0153856294144	0.0013	0.00119808	0.0018	0.0003	0.0013	0.0010	0	0.0025	0.0011	0.0016	0.0017594	272	154602	rs112597942	0.0016	0.0016	0.0014	0.0017	0.0106	0.0015	0.0015	0.0085	0.0077	0.0004	0.0015	0.0047	0.0007	0.0001	0.0106	0.0015	0.0021	0.0016	0.0015	0.0015	0.0016	0.0015	0.0021	0.0014	0.0013	0.0018	0.0016	0.0004	0	0.0021	0.0043	0.0012	9.413e-05	0.0136	0.0020	0.0066	0.0021	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.048569	0.999378	0.81001	D	2.97	0.85306	M	2.34	0.22474	T	-3.43	0.67824	D	0.802	0.81559	-0.9275	0.44502	T	0.153	0.48274	T	10	0.035427004	0.01790	T	0.015386	0.36094	T	0.367	0.68670	.	.	0.489658423131	0.48598	0.45700396603038335	0.45618	0.243319615468	0.26841	0.530752539635	0.43141	T	0.169697	0.51717	T	-0.151697	0.28045	T	0.00346405	0.70561	D	0.0458351282532397	0.04753	T	0.90251	0.67561	D	0.5705273	0.71089	0.7619324	0.85935	0.5705273	0.71091	0.7619324	0.85935	-7.348	0.56536	T	.	.	0.153	0.33913	B	.;.;.;.	.;.;.;.	4.314021	0.65970	24.9	0.99843710803384478	0.92403	0.99342	0.94758	D	AEFBI	0.886877	0.81865	D	0.802461005414676	0.86259	8.828399	0.769461232356726	0.87601	9.279313	0.999996677748471	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.99	5.99	0.97299	7.316000	0.78319	11.181000	0.88313	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	1.0:0.0:0.0:0.0	16.494	0.84067	923	0.18507	.;.;.;.	.	.	.	.	.	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	0.004028	0.000000	0.000000	0.005848	0.000000	0.008621	0.009146	0.003788	0.02632	973.33	43	chr10	113622137	.	A	G	973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.082;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.7;ReadPosRankSum=-1.843;SOR=0.719	GT:AD:DP:GQ:PL	0/1:23,32:55:99:987,0,654	18	0	1	0
chr10	114255010	114255010	A	T	exonic	VWA2	.	nonsynonymous SNV	VWA2:NM_001272046:exon4:c.A223T:p.I75F,VWA2:NM_001320804:exon4:c.A223T:p.I75F	.	431	1083	8	0	0	8	0.00367985	.	.	.	723782	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.450	.	0.0003	0.013778	0.0096	0.0005	0.0368	0.0548	0.0160	0.0020	0.0078	0.0007	0.0086545	1338	154602	rs75028145	0.0033	0.0033	0.0035	0.0030	0.0483	0.0032	0.0032	0.0465	0.0458	0.0007	0.0295	0.0024	0.0483	0.0168	0.0004	0.0002	0.0040	0.0011	0.0054	0.0054	0.0046	0.0062	0.0540	0.0051	0.0049	0.0488	0.0468	0.0006	0	0.0177	0.0032	0.0540	0.0157	0	0.0006	0.0066	0.0019	0.223	0.18757	T	0.08	0.41913	T	0.947	0.53479	P	0.439	0.45685	B	0.877040	0.07211	N	1.055100	0.742667	0.33840	D	2.235	0.63160	M	-1.74	0.83413	D	-1.44	0.35399	N	0.41	0.45047	-0.5583	0.66469	T	0.106	0.38783	T	10	0.0033477843	0.00058	T	.	.	.	0.450	0.75074	.	.	.	.	0.42154765605563477	0.42070	.	.	0.27176630497	0.06373	T	0.088432	0.38156	T	-0.384518	0.02916	T	-0.278774	0.46930	T	0.0372307897526938	0.03197	T	0.738826	0.35731	T	0.21362944	0.43746	0.22648315	0.47628	0.21362944	0.43746	0.22648315	0.47627	-9.468	0.70660	D	0.2175417729178618	0.29281	0.210	0.43801	B	.	.	1.360791	0.17698	13.32	0.9854396474447461	0.42757	0.11892	0.16928	N	AEFGI	0.082789	0.16767	N	-0.293594131032781	0.29394	1.629702	-0.373127945094249	0.25801	1.421153	0.662758766936296	0.22289	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.17	-0.389	0.11835	-0.504000	0.06456	-0.203000	0.10926	-0.078000	0.16268	0.045000	0.21207	0.000000	0.08366	0.990000	0.65344	0.5149:0.2686:0.2165:0.0	5.075	0.13963	911	0.21964	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1844.33	33	chr10	114255010	.	A	T	1844.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.03;DP=760;ExcessHet=0;FS=3.203;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=-0.978;SOR=0.836	GT:AD:DP:GQ:PL	0/1:59,69:128:99:1858,0,1404	18	0	1	0
chr10	120866640	120866640	G	A	exonic	WDR11	.	nonsynonymous SNV	WDR11:NM_018117:exon8:c.G1066A:p.V356I	Hypogonadotropic hypogonadism 14 with or without anosmia, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	684133	WDR11-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.422	0.0567128637389	0.0019	0.000399361	0.0018	0.0004	0.0003	0.0003	0.0005	0.0029	0.0011	0.0003	0.0017594	272	154602	rs34304988	0.0026	0.0026	0.0026	0.0026	0.0032	0.0025	0.0025	0.0031	0.0031	0.0002	0.0004	0.0003	0.0002	0.0009	0.0002	0.0032	0.0020	0.0003	0.0015	0.0015	0.0018	0.0012	0.0029	0.0014	0.0013	0.0026	0.0025	0.0002	0	0.0010	0	0.0002	0.0007	0	0.0029	0.0014	0.0002	0.551	0.06564	T	0.441	0.17640	T	0.997	0.70673	D	0.959	0.70163	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.78	0.46185	L	-2.68	0.90391	D	0.05	0.06369	N	0.406	0.44666	0.397	0.89048	D	0.775	0.92353	D	10	0.01970011	0.00443	T	0.056713	0.66705	D	0.422	0.73078	.	.	0.652543851182	0.64965	0.2692501366017764	0.26838	0.25021508411	0.27598	0.684484243393	0.64913	T	0.062811	0.32013	T	-0.195575	0.21444	T	-0.0527526	0.66834	D	0.036999293960702	0.03156	T	0.928707	0.73770	D	0.07690457	0.17421	0.09259459	0.21830	0.07690457	0.17421	0.09259459	0.21830	-5.781	0.44408	T	.	.	0.132	0.46320	B	.;.	.;.	3.372451	0.46612	22.3	0.99565201131771974	0.72014	0.98526	0.83723	D	AEFDGBI	0.862565	0.78088	D	0.622741898530755	0.74613	6.162883	0.6469181282825	0.78382	6.864954	0.999999997659742	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	7.726000	0.83783	9.982000	0.82930	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.0:0.0:1.0:0.0	19.298	0.94118	616	0.66398	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1675.33	34	chr10	120866640	.	G	A	1675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=883;ExcessHet=0;FS=1.18;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=-0.578;SOR=0.591	GT:AD:DP:GQ:PL	0/1:109,72:181:99:1689,0,2514	18	0	1	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L,PSTK:NM_153336:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1062.87	83	chr10	122983003	.	G	C	1062.87	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.7;DP=2257;ExcessHet=11.1788;FS=178.411;InbreedingCoeff=-0.4627;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=0.593;SOR=13.029	GT:AD:DP:GQ:PL	0/1:68,35:123:99:175,0,1006	6	0	12	1
chr10	123780235	123780235	G	A	exonic	CPXM2	.	nonsynonymous SNV	CPXM2:NM_198148:exon7:c.C910T:p.R304C	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.737	0.164698110209	0.0002	.	2.471e-05	0	0	0	0	2.997e-05	0	6.057e-05	1.94e-05	3	154602	rs145723018	1.787e-05	2.121e-05	2.326e-05	1.242e-05	6e-05	1.243e-05	1.056e-05	1.22e-05	1.035e-05	6e-05	2.237e-05	0	0	0	0	1.899e-05	1.662e-05	1.161e-05	1.972e-05	1.97e-05	3.855e-05	0	4.41e-05	5.24e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.011	0.55530	D	0.047	0.48855	D	0.999	0.77913	D	0.828	0.59497	P	0.000000	0.84330	D	0.000000	0.99999	0.81001	D	1.87	0.49600	L	-3.98	0.96277	D	-2.58	0.55662	D	0.815	0.81063	0.790	0.94292	D	0.867	0.95586	D	10	0.8254254	0.81725	D	0.164698	0.84374	D	0.737	0.90852	.	.	0.975055352076	0.97478	0.7785256444066065	0.77802	0.841245219512	0.68085	0.779717743397	0.78884	T	0.02382	0.18113	T	0.345476	0.86202	D	0.35533	0.90524	D	0.823466181755066	0.48031	D	0.952305	0.81786	D	0.26384568	0.49450	0.20774129	0.45046	0.26384568	0.49450	0.20774129	0.45045	-15.421	0.96761	D	.	.	0.737	0.74497	P	.	.	5.083743	0.84853	28.4	0.99915247656383721	0.98379	0.94587	0.61652	D	AEFDBI	0.744057	0.68716	D	0.280728204630056	0.55173	3.681498	0.213327020152539	0.50586	3.249108	0.490473968236887	0.20858	0.623552	0.39893	0	0.610034	0.51514	0	0.667671	0.60360	0	0.564101	0.26826	0	.	.	4.62	2.48	0.29194	3.045000	0.49528	5.884000	0.50679	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.889000	0.42754	0.0:0.0:0.4963:0.5037	11.692	0.50785	927	0.17636	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1679.33	36	chr10	123780235	.	G	A	1679.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.7;DP=741;ExcessHet=0;FS=4.631;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=-1.282;SOR=1.129	GT:AD:DP:GQ:PL	0/1:53,58:111:99:1693,0,1325	18	0	1	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	20592.3	168	chr10	124989543	.	T	C	20592.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.212;DP=2545;ExcessHet=38.2876;FS=17.974;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=49.65;MQRankSum=-8.998;QD=8.51;ReadPosRankSum=0.06;SOR=0.178	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,47:132:99:0|1:124989533_G_A:1697,0,3352:124989533	1	0	18	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8765.83	174	chr10	124989564	.	TG	T	8765.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.94;DP=2670;ExcessHet=31.086;FS=16.933;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=51.59;MQRankSum=-8.373;QD=3.69;ReadPosRankSum=-1.813;SOR=0.178	GT:AD:DP:GQ:PL	0/1:95,35:130:99:918,0,3131	2	0	17	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G,CTBP2:NM_022802:exon9:c.C2897G:p.A966G,CTBP2:NM_001321013:exon10:c.C1277G:p.A426G,CTBP2:NM_001083914:exon11:c.C1277G:p.A426G,CTBP2:NM_001290214:exon11:c.C1277G:p.A426G,CTBP2:NM_001290215:exon11:c.C1277G:p.A426G,CTBP2:NM_001321012:exon11:c.C1277G:p.A426G,CTBP2:NM_001321014:exon11:c.C1277G:p.A426G,CTBP2:NM_001329:exon11:c.C1277G:p.A426G	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3571	1989.41	182	chr10	124989579	.	G	C	1989.41	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-0.436;DP=2864;ExcessHet=6.9875;FS=14.618;InbreedingCoeff=-0.4859;MLEAC=12;MLEAF=0.429;MQ=53.46;MQRankSum=-7.748;QD=1.37;ReadPosRankSum=-3.038;SOR=0.509	GT:AD:DP:GQ:PL	0/1:101,25:126:99:418,0,2819	4	0	10	5
chr10	124989594	124989594	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1466T:p.A489V,CTBP2:NM_022802:exon9:c.C2882T:p.A961V,CTBP2:NM_001321013:exon10:c.C1262T:p.A421V,CTBP2:NM_001083914:exon11:c.C1262T:p.A421V,CTBP2:NM_001290214:exon11:c.C1262T:p.A421V,CTBP2:NM_001290215:exon11:c.C1262T:p.A421V,CTBP2:NM_001321012:exon11:c.C1262T:p.A421V,CTBP2:NM_001321014:exon11:c.C1262T:p.A421V,CTBP2:NM_001329:exon11:c.C1262T:p.A421V	.	434	994	92	2	0	96	0.0460653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.0164095717119	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs796932553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.61437	D	0.153	0.47581	T	0.0	0.29493	B	0.003	0.29851	B	0.000074	0.52346	D	0.171354	0.998727	0.45339	D	0	0.06538	N	-1.7	0.83893	D	-1.52	0.36980	N	0.068	0.35088	-0.3593	0.73284	T	0.375	0.73332	T	10	0.20304337	0.36446	T	0.01641	0.37653	T	0.413	0.72404	0.116	0.02439	0.921111971606	0.92031	0.4850374405507885	0.48423	1.38571311652	0.84878	0.61237859726	0.54653	T	0.238026	0.60585	T	0.178629	0.71918	D	0.0188116	0.71553	D	0.939782977104187	0.61154	D	0.778122	0.41194	T	0.23727793	0.46589	0.19780372	0.43581	0.23727793	0.46589	0.19780372	0.43580	-4.076	0.27513	T	.	.	0.188	0.40538	B	.;.;.;.;.;.	.;.;.;.;.;.	3.666132	0.52110	23.2	0.99088467818009263	0.52149	0.89521	0.50038	D	AEFDGBCI	0.658597	0.62981	D	0.0387136870084276	0.43625	2.651733	0.235082274552022	0.51805	3.359932	0.999999999873815	0.74766	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	5.529000	0.66849	9.961000	0.82795	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	16.928	0.86052	939	0.14249	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	720.63	43	chr10	124989594	.	G	A	720.63	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-2.445;DP=2053;ExcessHet=2.0135;FS=10.856;InbreedingCoeff=-0.2058;MLEAC=6;MLEAF=0.167;MQ=55.3;MQRankSum=-7.601;QD=0.79;ReadPosRankSum=-3.679;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,19:153:99:0|1:124989594_G_A:247,0,5444:124989594	12	0	6	1
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4211	5963.25	35	chr10	124994489	.	T	G	5963.25	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.41;DP=2809;ExcessHet=25.4433;FS=26.988;InbreedingCoeff=-0.7286;MLEAC=16;MLEAF=0.421;MQ=58.25;MQRankSum=-7.677;QD=2.44;ReadPosRankSum=-3.639;SOR=3.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,19:140:99:0|1:124994489_T_G:434,0,5000:124994489	3	0	16	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4474	8869.86	35	chr10	124994501	.	G	A	8869.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.103;DP=3037;ExcessHet=31.086;FS=31.76;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.66;MQRankSum=-6.926;QD=3.22;ReadPosRankSum=-2.916;SOR=3.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,24:146:99:0|1:124994489_T_G:638,0,5030:124994489	2	0	17	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4474	9100.86	35	chr10	124994505	.	A	T	9100.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.29;DP=3109;ExcessHet=31.086;FS=32.046;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.53;MQRankSum=-6.856;QD=3.31;ReadPosRankSum=-2.157;SOR=3.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,24:145:99:0|1:124994489_T_G:641,0,4927:124994489	2	0	17	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	13165.0	224	chr10	124994530	.	G	A	13165.0	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.518;DP=3717;ExcessHet=38.2876;FS=52.691;InbreedingCoeff=-0.9045;MLEAC=18;MLEAF=0.474;MQ=56.99;MQRankSum=-6.295;QD=4.31;ReadPosRankSum=1.03;SOR=4.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,29:153:99:0|1:124994523_G_A:733,0,4953:124994523	1	0	18	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	6669.77	218	chr10	124994542	.	C	T	6669.77	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.167;DP=3803;ExcessHet=31.086;FS=61.277;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=56.82;MQRankSum=-6.243;QD=2.29;ReadPosRankSum=2.29;SOR=5.37	GT:AD:DP:GQ:PL	0/1:119,25:144:99:262,0,3597	1	0	17	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6662.69	214	chr10	124994563	.	A	T	6662.69	.	AC=18;AF=0.5;AN=36;BaseQRankSum=-2.888;DP=3853;ExcessHet=38.2876;FS=70.258;InbreedingCoeff=-0.9487;MLEAC=19;MLEAF=0.528;MQ=56.72;MQRankSum=-6.4;QD=2.12;ReadPosRankSum=3.59;SOR=5.482	GT:AD:DP:GQ:PL	0/1:137,27:164:99:226,0,3934	0	0	18	1
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	18811.3	222	chr10	124994577	.	C	A	18811.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.155;DP=3962;ExcessHet=48.2876;FS=72.251;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.8;MQRankSum=-6.921;QD=5.38;ReadPosRankSum=2.92;SOR=5.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,35:184:99:0|1:124994577_C_A:879,0,5947:124994577	0	0	19	0
chr10	128101487	128101487	G	A	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon13:c.C8396T:p.A2799V,MKI67:NM_002417:exon14:c.C9476T:p.A3159V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00328878426598	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326960449	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.571e-06	6.568e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.216	0.20002	T	0.271	0.24054	T	0.0	0.02946	B	0.0	0.01387	B	0.560646	0.05422	N	1.280620	1	0.08975	N	-0.55	0.02420	N	4.97	0.01356	T	-0.64	0.19720	N	0.066	0.03841	-0.9069	0.47227	T	0.003	0.00832	T	10	0.04004383	0.02541	T	0.003289	0.07298	T	0.012	0.01476	0.222	0.14518	0.119812018005	0.11559	0.03052940566170743	0.03001	0.0417484063962	0.04490	0.219794660807	0.01298	T	0.005336	0.04780	T	-0.40889	0.02022	T	-0.825118	0.01352	T	0.0230153471929581	0.01025	T	0.372463	0.08834	T	0.016449155	0.00199	0.028945588	0.01180	0.016449155	0.00198	0.028945588	0.01180	-4.351	0.28886	T	.	.	0.075	0.05623	B	.;.	.;.	0.876455	0.12494	9.026	0.93150780887034168	0.22799	0.02444	0.06882	N	AEFBCI	0.011221	0.00095	N	-1.42861116861363	0.02390	0.1054973	-1.4397996952039	0.02864	0.1325268	0.999618757004597	0.40981	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.741806	0.99463	0	.	.	2.99	-0.258	0.12334	-0.001000	0.12880	-0.010000	0.13073	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.389:0.2753:0.3357:0.0	5.46	0.15907	970	0.06235	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2319.33	188	chr10	128101487	.	G	A	2319.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.761;DP=2654;ExcessHet=0;FS=2.459;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.124;SOR=0.897	GT:AD:DP:GQ:PL	0/1:113,89:202:99:2333,0,2957	18	0	1	0
chr10	132885150	132885150	C	T	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon27:c.G3580A:p.V1194M	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	0.00279553	0.0060	0	0.0034	0	0	0	0	0.0124	0.0008021	124	154602	rs370936158	0.0009	0.0009	0.0005	0.0013	0.0148	0.0009	0.0009	0.0141	0.0138	3.166e-05	2.801e-05	0	8.397e-05	0	0.0002	4.264e-05	0.0009	0.0148	0.0006	0.0006	0.0003	0.0009	0.0172	0.0005	0.0004	0.0142	0.0131	2.404e-05	0	0	0	0	0	0	7.349e-05	0	0.0172	0.081	0.33418	T	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.88	0.10291	T	-1.18	0.30140	N	0.262	0.29659	-0.9543	0.40221	T	0.098	0.36651	T	6	0.0035399795	0.00063	T	.	.	.	0.015	0.02232	0.209	0.12639	0.0297737177859	0.01360	0.05964634386058227	0.05904	0.213363117002	0.23846	0.452046245337	0.32223	T	0.021079	0.16480	T	-0.622976	0.00105	T	-0.655962	0.08541	T	0.0253356605079103	0.01317	T	0.565643	0.19997	T	0.08455496	0.19577	0.09147287	0.21508	0.08455496	0.19576	0.09147287	0.21507	-5.804	0.44609	T	.	.	0.120	0.24901	B	.	.	0.140260	0.05343	1.829	0.98305817726434763	0.40097	0.02898	0.07690	N	AEFDBCI	0.025138	0.01669	N	-0.69076906649726	0.16283	0.8282427	-0.890878120728916	0.12309	0.6324448	0.0169875170747522	0.12898	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.16	-1.81	0.07456	-1.692000	0.02019	-6.642000	0.01344	0.544000	0.25403	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2191:0.1757:0.6052	6.953	0.23736	994	0.00715	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1106.33	37	chr10	132885150	.	C	T	1106.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.742;DP=777;ExcessHet=0;FS=3.285;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-1.326;SOR=0.376	GT:AD:DP:GQ:PL	0/1:35,46:81:99:1120,0,968	18	0	1	0
chr10	132899074	132899074	C	T	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon24:c.G3104A:p.R1035Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.536	0.716717493715	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1283309573	2.074e-05	2.052e-05	1.27e-05	2.9e-05	0.0003	1.455e-05	1.258e-05	0.0002	0.0002	3.165e-05	0	0	2.798e-05	0	0	4.634e-06	0	0.0003	2.627e-05	2.624e-05	0	5.372e-05	0.0004	8.14e-06	5.14e-06	7.29e-05	3.029e-05	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999868	0.19989	N	.	.	.	-1.08	0.77078	T	-3.17	0.64363	D	0.567	0.59053	-0.2622	0.76028	T	0.599	0.85709	D	8	0.7573656	0.76084	D	0.716717	0.97703	D	0.536	0.80545	0.47	0.54376	0.563246863647	0.55987	0.5142896103080931	0.51351	0.578139230769	0.53719	0.492080897093	0.37727	T	0.17409	0.52319	T	-0.0494003	0.44538	T	-0.0394368	0.67740	D	0.762440800666809	0.43992	D	0.864214	0.56114	D	0.44894224	0.63974	0.43209022	0.66805	0.44894224	0.63974	0.43209022	0.66805	-8.59	0.65023	D	.	.	0.178	0.38764	B	.	.	3.525519	0.49441	22.8	0.99929160527691641	0.99279	0.61323	0.31451	D	AEFBI	0.157291	0.28277	N	0.258513541309145	0.54061	3.57272	0.135344418461045	0.46371	2.884096	0.00574477476784552	0.11030	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.14	4.14	0.47821	2.294000	0.43227	5.654000	0.49193	0.599000	0.40250	0.330000	0.25589	0.904000	0.28019	0.535000	0.29822	0.0:1.0:0.0:0.0	11.928	0.52117	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	.	.	.	.	.	.	.	.	0.02632	406.33	34	chr10	132899074	.	C	T	406.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.68;DP=647;ExcessHet=0;FS=1.475;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=1.46;SOR=1.148	GT:AD:DP:GQ:PL	0/1:18,14:32:99:420,0,396	18	0	1	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	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	.	.	.	.	.	.	.	.	0.3684	8543.31	218	chr11	1018290	.	G	A	8543.31	.	AC=14;AF=0.368;AN=38;BaseQRankSum=4.18;DP=5186;ExcessHet=31.086;FS=18.111;InbreedingCoeff=-0.8095;MLEAC=14;MLEAF=0.368;MQ=55.27;MQRankSum=-8.441;QD=1.76;ReadPosRankSum=1.38;SOR=1.969	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:282,34:336:99:.:.:579,0,11739:.	5	0	14	0
chr11	1249397	1249397	G	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G12517A:p.E4173K	.	.	.	.	.	.	.	.	.	.	.	2205809	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.0102413799213	8.5e-05	.	0.0002	0	0.0002	0	0	0.0001	0.0013	0.0009	3.84e-05	1	26028	rs375463570	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	0	0.0002	0	5.038e-05	0	0.0005	0.0002	0.0003	0.0010	9.861e-05	9.85e-05	7.71e-05	0.0001	0.0004	6.01e-05	4.882e-05	0.0001	8.288e-05	2.416e-05	0	0.0003	0	0	0	0	0.0001	0	0.0004	0.016	0.51853	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999946	0.19238	N	3.13	0.88074	M	2.16	0.19166	T	-1.41	0.34795	N	0.238	0.26837	-0.9195	0.45621	T	0.118	0.41385	T	9	0.05632195	0.06294	T	0.010241	0.26544	T	0.094	0.27141	.	.	0.043077524339	0.03247	0.7700107108351849	0.76950	.	.	0.47407078743	0.35241	T	0.019402	0.15464	T	-0.534983	0.00359	T	-0.610065	0.11980	T	0.0698121191205456	0.08625	T	0.573543	0.20534	T	0.06671327	0.14380	0.11428417	0.27586	0.06671327	0.14380	0.11428417	0.27585	-8.32	0.63230	D	.	.	0.618	0.69636	P	.	.	0.699661	0.10684	7.380	0.79472205928648731	0.12757	0.02934	0.07752	N	AEFI	0.092441	0.18715	N	-0.670968472493337	0.16852	0.8622288	-0.97684377769293	0.10306	0.5182466	1.67454863263226E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.69	-2.6	0.05830	-4.279000	0.00297	-11.966000	0.00561	-0.709000	0.03961	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0853:0.549:0.3657:0.0	11.807	0.51433	952	0.10565	WxxW 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	0.001147	0.000000	0.001374	0.000000	0.000000	0.000000	0.000000	0.004032	0.02632	1024.33	49	chr11	1249397	.	G	A	1024.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.6;DP=1198;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=40.02;MQRankSum=-2.195;QD=10.56;ReadPosRankSum=-0.736;SOR=0.666	GT:AD:DP:GQ:PL	0/1:59,38:97:99:1038,0,1525	18	0	1	0
chr11	1836238	1836238	A	G	exonic	SYT8	.	nonsynonymous SNV	SYT8:NM_001290332:exon5:c.A515G:p.H172R,SYT8:NM_001290333:exon5:c.A512G:p.H171R,SYT8:NM_001290334:exon5:c.A509G:p.H170R,SYT8:NM_138567:exon5:c.A512G:p.H171R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0153541289396	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1387004912	9.729e-06	1.163e-05	5.523e-06	1.399e-05	0.0004	5.65e-06	4.42e-06	6.179e-05	2.554e-05	0	0	0	0	0	0.0004	1.089e-05	0	0	6.579e-06	6.57e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.043	0.41364	D	0.008	0.67890	D	0.955	0.54515	P	0.745	0.55870	P	.	.	.	.	0.918236	0.28790	N	2.245	0.63543	M	3.19	0.07353	T	-6.28	0.90688	D	0.224	0.25130	-1.0927	0.05097	T	0.035	0.14987	T	9	0.38676143	0.54598	T	0.015354	0.36031	T	0.088	0.25558	0.685	0.82271	0.21737058555	0.21362	0.4322213094474557	0.43139	0.415749079951	0.42219	0.579834103584	0.50063	T	0.112658	0.42910	T	-0.164273	0.26105	T	-0.473743	0.25114	T	0.886074662208557	0.53646	D	0.59994	0.22366	T	0.26766744	0.49839	0.37723622	0.62828	0.26766744	0.49839	0.37723622	0.62828	-7.049	0.54390	T	.	.	0.143	0.33249	B	.;.	.;.	2.004513	0.25467	16.77	0.99216091429115483	0.55747	0.07770	0.13769	N	AEFDBI	0.121499	0.23618	N	-0.0599446130666916	0.39158	2.304832	-0.194857464730218	0.31725	1.798129	0.999846905718425	0.43971	0.554377	0.28877	0	0.588066	0.40923	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	2.76	2.76	0.31527	0.227000	0.17575	0.454000	0.18551	-0.122000	0.13826	0.000000	0.06391	0.001000	0.17328	0.011000	0.09372	0.8784:0.0:0.1216:0.0	6.693	0.22372	988	0.01987	C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 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	.	.	.	.	.	.	.	.	0.02632	2002.33	35	chr11	1836238	.	A	G	2002.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.393;DP=873;ExcessHet=0;FS=5.67;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.538;SOR=0.971	GT:AD:DP:GQ:PL	0/1:79,82:161:99:2016,0,2024	18	0	1	0
chr11	3228500	3228512	TGCCAGGCTGGTC	-	exonic	MRGPRE	.	frameshift deletion	MRGPRE:NM_001039165:exon2:c.288_300del:p.T97Rfs*11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3120.29	66	chr11	3228499	.	TTGCCAGGCTGGTC	T	3120.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.582;DP=1236;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.66;ReadPosRankSum=-0.792;SOR=0.741	GT:AD:DP:GQ:PL	0/1:71,80:151:99:3134,0,2725	18	0	1	0
chr11	4594529	4594529	G	A	exonic	OR52I1	.	nonsynonymous SNV	OR52I1:NM_001005169:exon1:c.G491A:p.S164N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0160246176778	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1382724876	6.84e-06	6.84e-06	5.445e-06	8.25e-06	0.0002	3.46e-06	2.52e-06	3.81e-06	2.76e-06	0	0	0	0	0	0.0002	8.093e-06	0	0	1.314e-05	1.313e-05	0	2.69e-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	0.01	0.56456	D	0.03	0.54159	D	0.998	0.73220	D	0.96	0.70309	D	0.000073	0.52346	D	0.000000	.	.	.	0.87	0.21467	L	1.19	0.37578	T	-1.48	0.36189	N	0.27	0.30574	-0.6801	0.61368	T	0.161	0.49665	T	9	0.33888692	0.50985	T	0.016025	0.37081	T	0.086	0.25016	0.499	0.58991	0.586510501665	0.58324	0.326276444758473	0.32540	1.02818934709	0.75339	0.288121044636	0.08649	T	0.004316	0.03719	T	-0.259283	0.12984	T	-0.594733	0.13259	T	0.405021905899048	0.29131	T	0.755224	0.37818	T	0.276624	0.50723	0.25902528	0.51644	0.276624	0.50723	0.25902528	0.51644	-6.064	0.46811	T	.	.	0.232	0.48644	B	.;.	.;.	3.041437	0.40780	21.2	0.98971732420157965	0.49540	0.07996	0.13976	N	AEFDGI	0.150037	0.27425	N	0.0240394387147319	0.42950	2.597625	-0.13182694754543	0.34116	1.958808	5.54062715130924E-4	0.07304	0.569682	0.32691	0	0.547309	0.14657	0	0.657636	0.52715	0	0.613276	0.41899	0	.	.	4.96	1.75	0.23707	0.496000	0.22207	.	.	-0.244000	0.07312	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.0:0.4271:0.42:0.1529	8.827	0.34222	835	0.38313	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	.	.	.	.	.	.	.	.	0.02632	4780.33	38	chr11	4594529	.	G	A	4780.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=1056;ExcessHet=0;FS=1.983;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.37;ReadPosRankSum=1.27;SOR=0.574	GT:AD:DP:GQ:PL	0/1:121,171:292:99:4794,0,3104	18	0	1	0
chr11	4946320	4946320	C	T	exonic	OR51A4	.	nonsynonymous SNV	OR51A4:NM_001005329:exon1:c.G781A:p.V261I	.	424	1095	3	0	0	3	0.00136799	.	.	.	2396365	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.00323729621663	.	.	9.065e-05	0	0	0	0	0.0001	0	0.0001	7.12e-05	11	154602	rs763198309	5.815e-05	6.567e-05	5.309e-05	6.326e-05	0.0002	4.81e-05	4.431e-05	4.178e-05	3.826e-05	5.98e-05	6.708e-05	3.826e-05	5.038e-05	0	0.0002	5.306e-05	0.0002	6.956e-05	5.924e-05	7.225e-05	7.718e-05	4.043e-05	0.0002	3.082e-05	2.213e-05	5.291e-05	2.837e-05	0	0	0.0002	0	0	0	0	8.821e-05	0	0	0.525	0.07140	T	0.42	0.14116	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.105	0.08473	N	1.35	0.34648	T	0.2	0.04861	N	0.033	0.00882	-1.0114	0.26478	T	0.039	0.16935	T	9	0.03767398	0.02137	T	0.003237	0.07147	T	0.005	0.00259	0.254	0.19378	0.0482279557977	0.04254	0.021419742424918873	0.02094	0.346059605865	0.36514	0.194121658802	0.00307	T	0.002661	0.02055	T	-0.514262	0.00475	T	-0.772879	0.02674	T	0.018304486768816	0.00549	T	0.753825	0.37593	T	0.020959476	0.00675	0.037086137	0.03288	0.020959476	0.00675	0.037086137	0.03287	-3.413	0.15232	T	.	.	0.074	0.05188	B	.;.	.;.	-0.826290	0.01056	0.045	0.70323570944678504	0.09258	0.00150	0.00907	N	AEFDGI	0.020455	0.00810	N	-1.80450260771326	0.00534	0.02300207	-1.84787226500079	0.00618	0.02745273	4.60860677197865E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.44	-3.51	0.04397	-2.589000	0.00974	.	.	-3.329000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6494:0.0:0.3506	11.285	0.48452	851	0.35303	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	1	0	0.001008	0.005051	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	1596.33	122	chr11	4946320	.	C	T	1596.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.622;DP=1691;ExcessHet=0;FS=1.92;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.39;MQRankSum=5.95;QD=9.07;ReadPosRankSum=-0.675;SOR=0.88	GT:AD:DP:GQ:PL	0/1:108,68:176:99:1610,0,2614	18	0	1	0
chr11	6200107	6200107	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C884G:p.P295R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400	0.0539634185351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0021	0.0008	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	0.0007	2.238e-05	0.0002	0.0002	1.93e-05	0.0005	0.0008	0.0004	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.977	0.58535	D	0.689	0.53736	P	0.034271	0.24791	N	0.198413	0.569916	0.32285	D	5.07	0.99906	H	-0.08	0.63911	T	-8.12	0.96707	D	0.8	0.79599	0.418	0.89363	D	0.499	0.81057	T	10	0.9466181	0.93989	D	0.053963	0.65674	D	0.400	0.71401	0.737	0.86978	0.756562400578	0.75435	0.47455396514490583	0.47374	0.062343724922	0.06938	0.315678536892	0.12767	T	0.146888	0.48470	T	0.167539	0.70898	D	0.00288233	0.70523	D	0.995080590248108	0.86803	D	0.934707	0.75503	D	0.9610508	0.97386	0.9567188	0.98791	0.9610508	0.97386	0.9567188	0.98791	-12.124	0.85450	D	.	.	0.505	0.64808	A	.	.	2.707812	0.35383	19.88	0.97301537367121227	0.33280	0.95966	0.66930	D	AEFBI	0.511260	0.53997	D	0.208503100090119	0.51610	3.340933	0.082639564659092	0.43676	2.664457	0.99944430790802	0.39736	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	3.23	0.36150	4.053000	0.57139	3.151000	0.36525	-0.172000	0.11096	0.999000	0.42656	0.986000	0.30841	0.667000	0.33166	0.0:0.8582:0.0:0.1418	13.827	0.62847	665	0.61472	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	.	.	.	.	.	.	.	.	0.2105	690.21	161	chr11	6200107	.	C	G	690.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-6.451;DP=2311;ExcessHet=4.0268;FS=110.401;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=1.63;SOR=10.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:145,17:170:74:.:.:74,0,5638:.	11	0	8	0
chr11	6200109	6200109	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C886G:p.L296V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0114858743224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.13879	T	0.419	0.14158	T	0.911	0.50336	P	0.158	0.34617	B	0.003626	0.34687	N	0.000000	0.905535	0.36277	D	0.41	0.12415	N	1.07	0.39586	T	0.43	0.03297	N	0.052	0.02366	-0.9765	0.35794	T	0.081	0.32090	T	10	0.1060805	0.19639	T	0.011486	0.29167	T	0.088	0.25558	0.397	0.42426	0.207176502487	0.20327	0.04900367529630378	0.04843	0.0233216950399	0.02366	0.204009205103	0.00582	T	5.16E-4	0.00194	T	-0.253739	0.13642	T	-0.602255	0.12622	T	0.502938449382782	0.32737	D	0.70483	0.31518	T	0.12892555	0.30127	0.11809379	0.28508	0.12892555	0.30127	0.11809379	0.28508	-3.839	0.21388	T	.	.	0.096	0.15385	B	.	.	2.102681	0.26757	17.23	0.99468787433388461	0.66207	0.36052	0.25444	N	AEFBI	0.406343	0.47887	N	-0.0291148856449301	0.40540	2.409298	-0.00557001676917808	0.39462	2.340232	0.999715313907442	0.42101	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	5.11	0.69188	-0.358000	0.07692	0.729000	0.21072	0.599000	0.40250	0.000000	0.06391	0.185000	0.23452	0.633000	0.32236	0.1663:0.8337:0.0:0.0	13.517	0.61000	665	0.61472	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	.	.	.	.	.	.	.	.	0.2368	1154.82	35	chr11	6200109	.	C	G	1154.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-6.448;DP=2227;ExcessHet=5.3738;FS=120.687;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.45;SOR=10.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,27:172:99:0|1:6200108_C_G:141,0,5630:6200108	10	0	9	0
chr11	6390701	6390724	CTGGTGCTGGCGCTGGCGCTGGCG	-	exonic	SMPD1	.	nonframeshift deletion	SMPD1:NM_000543:exon1:c.103_126del:p.V36_L43del,SMPD1:NM_001007593:exon1:c.103_126del:p.V36_L43del,SMPD1:NM_001318087:exon1:c.103_126del:p.V36_L43del,SMPD1:NM_001365135:exon1:c.103_126del:p.V36_L43del	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	13	1261	202	16	30	264	0.0849057	.	.	.	462081	Niemann-Pick_disease,_type_A|Niemann-Pick_disease,_type_B|not_provided	MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0022	0.0005	0.0016	0.0005	0.0004	0.0015	0	0.0080	0.0004226	11	26028	rs550067660	0.0013	0.0013	0.0011	0.0015	0.0071	0.0012	0.0012	0.0066	0.0065	0.0005	0.0014	0.0038	0.0004	0	0.0039	0.0008	0.0019	0.0071	0.0010	0.0009	0.0009	0.0010	0.0074	0.0008	0.0008	0.0053	0.0046	0.0002	0	0.0009	0.0039	0.0004	0	0.0078	0.0011	0.0005	0.0074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4549.45	39	chr11	6390700	.	CCTGGTGCTGGCGCTGGCGCTGGCG	C	4549.45	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.621;DP=966;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.19;ReadPosRankSum=-0.104;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,47:119:99:0|1:6390700_CCTGGTGCTGGCGCTGGCGCTGGCG_C:1762,0,2866:6390700	18	0	1	0
chr11	6390705	6390717	TGCTGGCGCTGGC	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	48070.0	78	chr11	6390705	.	TGCTGGCGCTGGC	*	48070.0	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.83;DP=1831;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=30.68;ReadPosRankSum=-0.4;SOR=0.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,47:107:99:1|0:6390700_CCTGGTGCTGGCGCTGGCGCTGGCG_C:3812,1748,2459:6390700	16	0	3	0
chr11	6623077	6623077	C	T	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon21:c.G8599A:p.A2867T	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	428	1076	18	0	0	18	0.00829493	.	.	.	1196080	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.052	.	0.0057	0.00379393	0.0100	0.0028	0.0067	0	0.0016	0.0160	0.0061	0.0039	0.0046507	719	154602	rs146233988	0.0065	0.0065	0.0066	0.0065	0.0113	0.0064	0.0064	0.0091	0.0083	0.0011	0.0046	0.0212	2.593e-05	0.0008	0.0113	0.0071	0.0078	0.0030	0.0053	0.0053	0.0054	0.0051	0.0079	0.0050	0.0049	0.0070	0.0068	0.0013	0	0.0079	0.0210	0	0.0006	0.0034	0.0076	0.0080	0.0041	0.21	0.19639	T	0.56	0.09113	T	0.001	0.07471	B	0.002	0.06944	B	0.001414	0.39109	N	0.000000	0.990491	0.24163	N	0.175	0.09039	N	0.23	0.59717	T	-1.3	0.32590	N	0.308	0.34767	-1.0651	0.10526	T	0.062	0.25672	T	10	0.011419386	0.00250	T	.	.	.	0.052	0.14661	.	.	0.272557281605	0.26857	0.3646127875677745	0.36375	0.183227035329	0.20612	0.364038228989	0.19972	T	0.089174	0.38315	T	-0.449616	0.01135	T	-0.412645	0.31922	T	0.00922406063220715	0.00117	T	0.712529	0.32403	T	0.047270615	0.08051	0.07459197	0.16333	0.047270615	0.08051	0.07459197	0.16332	-5.334	0.40278	T	.	.	0.071	0.04002	B	.	.	2.289612	0.29282	18.07	0.98327669376725069	0.40309	0.14302	0.18331	N	AEFDBI	.	.	.	-0.467978113883131	0.23135	1.240253	-0.287298167383484	0.28516	1.590583	0.999981505549986	0.51787	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	1.372000	0.33866	4.064000	0.41610	0.599000	0.40250	0.011000	0.18532	1.000000	0.68203	0.993000	0.69303	0.0:0.826:0.0:0.174	7.380	0.26025	539	0.73055	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	0	0	1	0	0.010585	0.020408	0.019022	0.008772	0.050000	0.008621	0.003049	0.000000	0.05263	2034.83	71	chr11	6623077	.	C	T	2034.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.27;DP=969;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-0.796;SOR=0.746	GT:AD:DP:GQ:PL	0/1:29,42:71:99:1174,0,808	17	0	2	0
chr11	8640672	8640672	G	A	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon9:c.C1268T:p.A423V	.	433	1076	10	3	0	16	0.00738007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	0.0026	.	0.0034	0	0.0024	0	0	0.0056	0.0149	0.0023	0.0007309	113	154602	rs201023559	0.0018	0.0017	0.0017	0.0019	0.0030	0.0017	0.0017	0.0025	0.0024	0.0002	0.0010	0.0159	2.798e-05	0.0006	0.0030	0.0015	0.0027	0.0028	0.0016	0.0016	0.0016	0.0016	0.0021	0.0015	0.0014	0.0019	0.0018	0.0002	0	0.0014	0.0167	0.0002	0.0003	0.0034	0.0021	0.0005	0.0019	0.007	0.63226	D	0.247	0.24054	T	0.265	0.31634	B	0.074	0.28220	B	0.711139	0.10013	N	0.847995	0.99876	0.21933	N	0.975	0.24501	L	2.22	0.18248	T	-0.34	0.12661	N	0.073	0.11340	-1.0649	0.10572	T	0.044	0.18906	T	10	0.0048727393	0.00104	T	.	.	.	0.075	0.21907	.	.	0.317667799068	0.31381	0.13300085741214776	0.13224	.	.	0.342824816704	0.16860	T	0.003345	0.02748	T	-0.534771	0.00360	T	-0.546175	0.17695	T	0.0304136835916939	0.02054	T	0.730127	0.34567	T	0.046097476	0.07657	0.07208847	0.15512	0.046097476	0.07657	0.07208847	0.15511	-3.443	0.15642	T	.	.	0.080	0.07697	B	.;.;.	.;.;.	2.407311	0.30938	18.59	0.98792263378419221	0.46317	0.84066	0.43151	D	AEFDGBI	0.103041	0.20655	N	-0.0441051428732156	0.39868	2.358027	0.0540653144450471	0.42270	2.553693	0.999918908304563	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.769059	0.98459	0	0.683762	0.67416	0	.	.	5.23	5.23	0.72570	2.042000	0.40844	7.509000	0.59594	0.610000	0.48991	0.983000	0.35670	1.000000	0.68203	0.971000	0.54645	0.0:0.1968:0.6684:0.1348	9.483	0.38078	362	0.84826	.;.;.	.	.	.	.	.	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	0.002058	0.000000	0.000000	0.000000	0.000000	0.000000	0.005208	0.009091	0.02632	1527.33	42	chr11	8640672	.	G	A	1527.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.872;DP=935;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-1.223;SOR=0.735	GT:AD:DP:GQ:PL	0/1:92,69:161:99:1541,0,2150	18	0	1	0
chr11	19225463	19225463	G	C	exonic	E2F8	.	nonsynonymous SNV	E2F8:NM_001256371:exon12:c.C2179G:p.Q727E,E2F8:NM_001256372:exon12:c.C2179G:p.Q727E,E2F8:NM_024680:exon12:c.C2179G:p.Q727E	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.00682669135762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.22920	T	0.507	0.10930	T	0.85	0.46913	P	0.37	0.43538	B	0.002551	0.36353	N	0.302380	0.648298	0.81001	D	1.995	0.54099	M	2.14	0.19450	T	-0.43	0.14390	N	0.442	0.48042	-0.9356	0.43303	T	0.061	0.25383	T	10	0.16369957	0.30645	T	0.006827	0.18065	T	0.097	0.27909	0.113	0.02240	0.171220215726	0.16700	0.492715480815806	0.49192	0.214305633905	0.23962	0.404561787844	0.25703	T	0.170917	0.51884	T	-0.122845	0.32661	T	-0.414235	0.31738	T	0.410042554140091	0.29319	T	0.763224	0.38939	T	0.055926528	0.10935	0.048248716	0.07126	0.055926528	0.10935	0.048248716	0.07126	-6.214	0.48036	T	.	.	0.086	0.10883	B	.;.;.	.;.;.	2.406737	0.30930	18.59	0.97522032654932145	0.34411	0.97922	0.78147	D	AEFDBI	0.665499	0.63429	D	0.153040239706733	0.48955	3.101548	0.195100717446692	0.49578	3.159294	0.999929520855767	0.46280	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.98	5.08	0.68373	3.460000	0.52793	9.948000	0.82707	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1416:0.0:0.8584:0.0	11.194	0.47928	840	0.37365	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	4846.83	39	chr11	19225463	.	G	C	4846.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.508;DP=945;ExcessHet=0.119;FS=3.601;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=0.868;SOR=0.885	GT:AD:DP:GQ:PL	0/1:72,102:174:99:2574,0,1982	17	0	2	0
chr11	21573350	21573350	C	T	exonic	NELL1	.	nonsynonymous SNV	NELL1:NM_001288714:exon18:c.C2152T:p.R718W,NELL1:NM_201551:exon18:c.C2182T:p.R728W,NELL1:NM_006157:exon19:c.C2323T:p.R775W,NELL1:NM_001288713:exon20:c.C2407T:p.R803W	.	416	1105	1	0	0	1	0.000452284	.	.	.	2210746	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.446	0.260135801733	0.0005	.	0.0003	0	0	0.0001	0	0.0005	0	0	0.0002523	39	154602	rs140760341	0.0004	0.0004	0.0004	0.0004	0.0021	0.0004	0.0004	0.0012	0.0009	0.0001	8.962e-05	3.836e-05	0	3.744e-05	0.0021	0.0005	0.0003	1.159e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	9.67e-05	0	0.0001	0	0	0	0	0.0005	0.0010	0	0.001	0.78490	D	0.029	0.63109	D	0.999	0.90584	D	0.855	0.80445	P	0.000711	0.42254	D	0.196102	0.759051	0.35044	D	2.34	0.67151	M	-1.27	0.80474	T	-2.86	0.61580	D	0.879	0.90025	0.152	0.85085	D	0.580	0.84894	D	10	0.7619118	0.76411	D	0.260136	0.89473	D	0.446	0.74797	.	.	0.838089715052	0.83655	0.8842450634903904	0.88392	0.425612778913	0.42963	0.568705797195	0.48494	T	0.181808	0.81534	T	-0.169648	0.25287	T	-0.161454	0.58222	T	0.400343686342239	0.28955	T	0.965803	0.88094	D	0.14413977	0.33098	0.131784	0.31637	0.14413977	0.33098	0.131784	0.31636	-8.788	0.68645	D	.	.	0.177	0.47816	B	.;.;.;.	.;.;.;.	4.710689	0.75672	26.4	0.99813070705478102	0.89708	0.92765	0.56491	D	AEFI	0.550652	0.56304	D	-0.219745642162089	0.32325	1.821739	-0.318793994109712	0.27492	1.525883	2.03393906443538E-4	0.05948	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	5.73	1.84	0.24348	2.726000	0.46973	4.494000	0.43583	-0.045000	0.17359	0.976000	0.34826	0.999000	0.35428	0.103000	0.18424	0.4984:0.4354:0.0662:0.0	10.408	0.43459	882	0.29131	.;.;.;.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1287.33	34	chr11	21573350	.	C	T	1287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-1.622;SOR=0.763	GT:AD:DP:GQ:PL	0/1:55,49:104:99:1301,0,1261	18	0	1	0
chr11	31603826	31603826	C	A	exonic	ELP4	.	nonsynonymous SNV	ELP4:NM_001288725:exon5:c.C575A:p.P192Q,ELP4:NM_001288726:exon5:c.C572A:p.P191Q,ELP4:NM_019040:exon5:c.C572A:p.P191Q	.	436	1084	2	0	0	2	0.000921659	.	.	.	693002	not_provided|ELP4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.203	0.00766190645127	0.0025	0.000599042	0.0028	0.0007	0.0017	0	0.0015	0.0043	0.0033	0.0003	0.0027619	427	154602	rs201699595	0.0036	0.0036	0.0036	0.0036	0.0044	0.0035	0.0035	0.0043	0.0043	0.0005	0.0018	0.0007	0	0.0017	0	0.0044	0.0025	0.0003	0.0025	0.0026	0.0029	0.0022	0.0045	0.0023	0.0023	0.0041	0.0039	0.0008	0	0.0016	0.0006	0	0.0015	0	0.0045	0.0028	0	0.233	0.33585	T	0.195	0.28032	T	0.975	0.67487	D	0.717	0.60313	P	0.000273	0.46590	D	0.255620	0.823272	0.28855	N	2.05	0.56469	M	1.04	0.40218	T	-0.18	0.09796	N	0.382	0.42345	-0.8951	0.48474	T	0.199	0.55414	T	10	0.008760184	0.00198	T	0.007662	0.20325	T	0.203	0.48915	.	.	0.669029919475	0.66624	0.3414478006322172	0.34057	0.266514489668	0.29196	0.287040412426	0.08493	T	0.012642	0.11078	T	-0.398995	0.02350	T	-0.342179	0.40098	T	0.0264428832089823	0.01466	T	0.922108	0.71672	D	0.06884359	0.15034	0.10977546	0.26461	0.06884359	0.15033	0.10977546	0.26461	-6.639	0.51350	T	.	.	0.110	0.29144	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.837533	0.55512	23.6	0.98964162724712479	0.49403	0.92638	0.56184	D	AEFI	0.313263	0.41847	N	0.469218747190213	0.65301	4.80537	0.482135655490483	0.66807	5.000376	0.446720810744399	0.20503	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	6.06	6.06	0.98340	4.857000	0.62639	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	0.944000	0.28851	0.992000	0.67800	0.0:1.0:0.0:0.0	20.250	0.98406	388	0.83355	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	845.33	33	chr11	31603826	.	C	A	845.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.711;DP=710;ExcessHet=0;FS=0.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.071;SOR=0.578	GT:AD:DP:GQ:PL	0/1:44,37:81:99:859,0,1017	18	0	1	0
chr11	47351388	47351388	T	C	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon2:c.A143G:p.D48G	Cardiomyopathy, dilated, 1MM, Autosomal dominant;Cardiomyopathy, hypertrophic, 4, Autosomal dominant;Left ventricular noncompaction 10, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	4009940	Cardiomyopathy	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.398	0.457918063704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.372e-06	1.368e-06	0	2.76e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.008	0.67890	D	0.996	0.68779	D	0.916	0.65201	D	.	.	.	.	0.999999	0.58761	D	2.54	0.74080	M	-0.34	0.68474	T	-2.69	0.57435	D	0.544	0.61172	-0.1427	0.79098	T	0.424	0.76790	T	9	0.78724784	0.78352	D	0.457918	0.94460	D	0.398	0.71242	0.439	0.49321	0.908003746345	0.90708	0.5899469713267508	0.58924	0.936948820389	0.72059	0.481811463833	0.36307	T	0.257955	0.62905	T	0.112262	0.65587	D	-0.0765202	0.65158	T	0.978535115718842	0.72374	D	0.855114	0.54241	D	0.66688854	0.76267	0.6408551	0.79017	0.66688854	0.76268	0.6408551	0.79018	-6.099	0.47100	T	.	.	0.528	0.76156	A	.;.;.	.;.;.	3.692893	0.52622	23.3	0.99728178733820882	0.82549	0.97815	0.77336	D	AEFDGBIJ	0.981362	0.99872	D	0.487633164834135	0.66368	4.940924	0.388372785602028	0.60849	4.277094	0.999998847827559	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.607795	0.38427	0	0.562822	0.20929	0	.	.	4.27	4.27	0.50009	7.485000	0.80221	7.812000	0.69465	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.028000	0.12845	0.0:0.0:0.0:1.0	13.557	0.61230	18	0.98631	Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|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	.	.	.	.	.	.	.	.	0.02632	1267.33	36	chr11	47351388	.	T	C	1267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=793;ExcessHet=0;FS=1.447;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-0.557;SOR=0.872	GT:AD:DP:GQ:PL	0/1:82,49:131:99:1281,0,2255	18	0	1	0
chr11	54603299	54603299	C	A	exonic	OR4C46	.	nonsynonymous SNV	OR4C46:NM_001004703:exon1:c.G700T:p.A234S	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0011275449255	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs759801521	1.642e-05	1.642e-05	1.77e-05	1.513e-05	0.0012	1.111e-05	9.34e-06	0.0006	0.0004	0	2.236e-05	0	2.52e-05	0	0.0012	8.996e-06	4.97e-05	2.319e-05	1.315e-05	1.313e-05	0	2.69e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.001	0.78490	D	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.87	0.00331	T	-2.93	0.61284	D	0.505	0.53708	.	.	.	.	.	.	.	0.44415787	0.58289	T	.	.	.	.	.	.	.	.	.	0.7896737787908608	0.78919	.	.	.	.	.	0.009812	0.08903	T	.	.	.	.	.	.	.	.	.	0.831917	0.49916	T	.	.	.	.	.	.	.	.	-8.0	0.61071	D	.	.	0.122	0.25331	B	.	.	3.866877	0.56112	23.7	.	.	.	.	.	.	0.324249	0.42620	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.434000	0.59679	.	.	0.217000	0.18040	1.000000	0.71638	0.894000	0.27871	0.070000	0.16646	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2214.33	41	chr11	54603299	.	C	A	2214.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.983;DP=1707;ExcessHet=0;FS=0.54;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.58;MQRankSum=-1.331;QD=11.91;ReadPosRankSum=-1.289;SOR=0.759	GT:AD:DP:GQ:PL	0/1:99,87:186:99:2228,0,2488	18	0	1	0
chr11	56094190	56094190	G	T	exonic	OR8I2	.	nonsynonymous SNV	OR8I2:NM_001003750:exon1:c.G883T:p.D295Y	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.00727964505645	7.7e-05	.	2.659e-05	0	0	0	0	4.85e-05	0	0	3.84e-05	1	26028	rs376426214	7.57e-06	9.577e-06	2.74e-06	1.245e-05	1.164e-05	4.06e-06	2.97e-06	3.83e-06	2.77e-06	0	0	0	0	0	0	8.132e-06	1.666e-05	1.164e-05	1.317e-05	1.314e-05	0	2.697e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.005	0.63226	D	0.012	0.63918	D	0.964	0.55854	D	0.525	0.48375	P	0.018284	0.27517	U	0.169164	0.758449	0.34010	D	3.74	0.94936	H	1.03	0.40469	T	-4.84	0.81030	D	0.255	0.28849	-0.1290	0.79425	T	0.242	0.60976	T	10	0.43435633	0.57696	T	0.00728	0.19307	T	0.232	0.53354	.	.	0.650448108403	0.64754	0.2576528736995358	0.25679	0.0343969961849	0.03618	0.232363551855	0.02148	T	0.006111	0.05549	T	-0.0792666	0.39835	T	-0.241579	0.50644	T	0.841056823730469	0.49413	D	0.408059	0.10511	T	0.6335148	0.74485	0.58259046	0.75801	0.6335148	0.74487	0.58259046	0.75802	-10.436	0.76479	D	.	.	0.132	0.28578	B	.	.	3.852501	0.55822	23.7	0.99178570672640953	0.54614	0.97479	0.75014	D	AEFGI	0.635791	0.61518	D	0.56245066513905	0.70845	5.56152	0.43326448451601	0.63650	4.602958	0.284455631454168	0.19022	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.33	4.33	0.51083	7.476000	0.80054	.	.	0.582000	0.30178	1.000000	0.71638	0.778000	0.26755	0.028000	0.12845	0.0998:0.0:0.9002:0.0	9.676	0.39206	152	0.94023	.	.	.	.	.	.	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	0.001512	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1176.33	45	chr11	56094190	.	G	T	1176.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.266;DP=859;ExcessHet=0;FS=5.102;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.91;MQRankSum=0.624;QD=11.1;ReadPosRankSum=-0.133;SOR=0.35	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1190,0,1453	18	0	1	0
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	775.27	278	chr11	56375950	.	A	*	775.27	.	AC=16;AF=0.421;AN=38;BaseQRankSum=5.68;DP=4836;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9009;MLEAC=16;MLEAF=0.421;MQ=59.99;MQRankSum=0;QD=0.17;ReadPosRankSum=0.109;SOR=1.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:219,35:254:99:0|1:56375918_A_G:810,0,9090:56375918	3	0	16	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	490.26	278	chr11	56375951	.	T	*	490.26	.	AC=16;AF=0.444;AN=36;BaseQRankSum=4.1;DP=4828;ExcessHet=38.2876;FS=6.951;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.11;ReadPosRankSum=0.061;SOR=1.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:219,35:254:99:0|1:56375918_A_G:810,0,9090:56375918	2	0	16	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	797.75	278	chr11	56375953	.	A	*	797.75	.	AC=16;AF=0.444;AN=36;BaseQRankSum=3.15;DP=4825;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.18;ReadPosRankSum=0.371;SOR=1.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:219,35:254:99:0|1:56375918_A_G:810,0,9090:56375918	2	0	16	1
chr11	61211355	61211355	G	T	exonic	PGA3	.	nonsynonymous SNV	PGA3:NM_001079807:exon8:c.G937T:p.A313S	.	589	931	2	0	0	2	0.00107296	.	.	.	2333490	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.060	0.0280292814183	.	.	0.0003	0	0	0	0	0.0005	0.0057	0.0001	3.84e-05	1	26028	rs755823534	0.0003	0.0003	0.0003	0.0003	0.0009	0.0002	0.0002	0.0003	0.0003	0	0.0002	0	0	4.393e-05	0.0009	0.0003	0.0003	0.0001	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	0	0	0.0002	0	0	0	0.0124	0.0005	0	0	0.411	0.10945	T	0.795	0.04288	T	.	.	.	.	.	.	0.377202	0.13441	N	0.622712	1	0.08975	N	-0.97	0.01230	N	0.49	0.55775	T	1.02	0.03521	N	0.082	0.05799	-1.0173	0.24592	T	0.036	0.15683	T	10	0.019279033	0.00428	T	0.028029	0.50763	D	0.060	0.17295	.	.	0.128874641272	0.12493	0.06197207878695254	0.06137	1.62447642288	0.89127	0.465920060873	0.34122	T	0.007279	0.06695	T	-0.438457	0.01321	T	-0.567265	0.15701	T	0.0269664793848399	0.01539	T	0.656934	0.45382	T	0.022692908	0.00950	0.04459203	0.05813	0.022692908	0.00949	0.04459203	0.05812	-1.602	0.01986	T	.	.	0.065	0.02012	B	.;.;.;.	.;.;.;.	0.112153	0.05115	1.644	0.23945399618955043	0.01036	0.01602	0.05196	N	AEFI	0.061781	0.11833	N	-1.79502074022103	0.00557	0.0240096	-1.85187403447749	0.00607	0.02696506	0.225926453640017	0.18410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.68	-7.36	0.01270	-0.197000	0.09519	-1.964000	0.04424	0.467000	0.21759	0.000000	0.06391	0.000000	0.08366	0.622000	0.31948	0.1933:0.0:0.4068:0.3999	5.803	0.17685	312	0.87382	Peptidase family A1 domain|Peptidase family A1 domain|Pepsin catalytic domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 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	1	0	.	.	.	.	.	.	.	.	0.02632	472.62	34	chr11	61211355	.	G	T	472.62	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.1;DP=463;ExcessHet=0;FS=0;InbreedingCoeff=-0.0416;MLEAC=1;MLEAF=0.026;MQ=39.98;MQRankSum=0.689;QD=8.75;ReadPosRankSum=-0.843;SOR=0.174	GT:AD:DP:GQ:PL	0/1:38,16:54:99:486,0,1372	18	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3421	5859.65	112	chr11	61740527	.	G	C	5859.65	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-2.763;DP=1817;ExcessHet=17.0548;FS=279.402;InbreedingCoeff=-0.5834;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=0.839;SOR=12.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,23:93:99:.:.:421,0,1194:.	6	0	13	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	7196.89	114	chr11	61740531	.	T	C	7196.89	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.001;DP=1904;ExcessHet=31.086;FS=256.929;InbreedingCoeff=-0.8097;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=0.515;SOR=12.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,27:111:99:.:.:356,0,2247:.	2	0	17	0
chr11	62633464	62633464	G	A	exonic	GANAB	.	nonsynonymous SNV	GANAB:NM_001278193:exon3:c.C269T:p.T90I,GANAB:NM_001278192:exon4:c.C335T:p.T112I,GANAB:NM_001278194:exon5:c.C320T:p.T107I,GANAB:NM_001329222:exon6:c.C320T:p.T107I,GANAB:NM_001329223:exon6:c.C320T:p.T107I,GANAB:NM_198334:exon6:c.C611T:p.T204I,GANAB:NM_198335:exon7:c.C677T:p.T226I	Polycyctic kidney disease 3, Autosomal dominant	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.0534384582199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.61437	T	0.18	0.31527	T	0.001	0.07471	B	0.004	0.10090	B	0.000003	0.00162	N	4.924200	1	0.08975	N	0	0.06538	N	-2.33	0.88377	D	-0.58	0.21644	N	0.192	0.25989	-0.6614	0.62215	T	0.400	0.75173	T	10	0.036925614	0.02017	T	0.053438	0.65467	D	0.212	0.50341	0.193	0.10437	0.21174354426	0.20776	0.2829960113851201	0.28212	0.162032793029	0.18279	0.335528731346	0.15767	T	0.075858	0.35279	T	-0.116396	0.33715	T	-0.404971	0.32807	T	0.0638411209296549	0.07759	T	0.60384	0.27348	T	0.020763068	0.00647	0.030646324	0.01546	0.020763068	0.00647	0.030646324	0.01546	-5.561	0.43915	T	.	.	0.082	0.20663	B	.;.;.;.;.;.	.;.;.;.;.;.	1.163659	0.15528	11.92	0.8549554014697256	0.15928	0.06708	0.12729	N	AEFGBI	0.057425	0.10696	N	-1.18258218540997	0.05263	0.2395174	-1.14813861963628	0.06802	0.3286303	0.158506116872765	0.17555	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.33	1.11	0.19640	-0.021000	0.12445	.	.	-0.106000	0.15538	0.000000	0.06391	0.122000	0.22912	0.481000	0.28588	0.1947:0.1636:0.4731:0.1686	1.535	0.02390	250	0.90192	.;.;.;.;.;.	.	.	.	.	.	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	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	657.33	34	chr11	62633464	.	G	A	657.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.032;DP=695;ExcessHet=0;FS=2.463;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.56;SOR=0.386	GT:AD:DP:GQ:PL	0/1:25,24:49:99:671,0,661	18	0	1	0
chr11	63096091	63096091	T	C	exonic	SLC22A24	.	nonsynonymous SNV	SLC22A24:NM_001136506:exon6:c.A970G:p.M324V	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.0134158875417	.	.	.	.	.	.	.	.	.	.	.	.	.	rs923395793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.029	0.54541	D	0.99	0.63424	D	0.92	0.65550	D	.	.	.	.	1	0.08975	N	.	.	.	-0.82	0.74053	T	-3.55	0.68764	D	0.262	0.29659	-0.8140	0.54306	T	0.282	0.65409	T	9	0.24402997	0.41627	T	0.013416	0.32810	T	0.273	0.58883	0.593	0.72247	0.353761421236	0.34979	0.23753682133622386	0.23668	0.00728219743574	0.00638	0.692230224609	0.66026	T	.	.	.	-0.130378	0.31434	T	-0.409569	0.32275	T	0.281939849660249	0.24253	T	0.591241	0.21771	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.33203	B	.;.	.;.	1.472571	0.18966	14.02	0.93439690913978179	0.23217	0.05823	0.11763	N	AEFI	0.033763	0.04065	N	-0.370050883776203	0.26541	1.449349	-0.504671998202005	0.22025	1.194332	4.90127614313443E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.68	2.49	0.29274	1.305000	0.33098	-0.697000	0.07812	0.590000	0.31872	0.220000	0.24536	0.000000	0.08366	0.025000	0.12405	0.0:0.0:0.2328:0.7672	7.037	0.24177	809	0.43032	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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	652.33	42	chr11	63096091	.	T	C	652.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.351;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.36;ReadPosRankSum=1.26;SOR=0.629	GT:AD:DP:GQ:PL	0/1:47,31:78:99:666,0,1210	18	0	1	0
chr11	63290238	63290238	C	T	exonic	SLC22A10	.	nonsynonymous SNV	SLC22A10:NM_001039752:exon1:c.C73T:p.L25F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00343814914755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.14546	T	0.498	0.11263	T	0.009	0.15093	B	0.008	0.13708	B	0.670784	0.10343	N	0.836159	1	0.08975	N	0.585	0.15399	N	0.6	0.53731	T	-1.06	0.27669	N	0.111	0.09772	-1.0334	0.19363	T	0.070	0.28609	T	10	0.042034864	0.02914	T	0.003438	0.07755	T	0.027	0.05988	0.359	0.36222	0.0884992946249	0.08302	0.34639545789419457	0.34553	0.0155235919736	0.01479	0.325473725796	0.14249	T	0.004242	0.03650	T	-0.264077	0.12426	T	-0.617105	0.11413	T	0.986176431179047	0.76962	D	0.288571	0.05217	T	0.03839796	0.05108	0.03959984	0.04088	0.03839796	0.05108	0.03959984	0.04088	-4.392	0.29448	T	.	.	0.098	0.16363	B	.	.	-1.318392	0.00423	0.008	0.40667526190809317	0.02885	0.00529	0.02453	N	AEFBCI	0.062766	0.12086	N	-1.57802451807214	0.01378	0.06005529	-1.67294110990565	0.01262	0.05688687	0.996999245436295	0.35182	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.89	-3.69	0.04162	-5.163000	0.00171	-20.000000	0.00162	-0.584000	0.04686	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1616:0.2773:0.0:0.561	4.736	0.12364	794	0.45591	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	128.4	88	chr11	63290238	.	C	T	128.4	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.449;DP=1721;ExcessHet=0.119;FS=111.978;InbreedingCoeff=-0.223;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=-0.727;SOR=9.301	GT:AD:DP:GQ:PL	0/1:57,16:73:13:13,0,1071	8	0	2	9
chr11	64284284	64284284	C	T	exonic	BAD	.	nonsynonymous SNV	BAD:NM_004322:exon1:c.G85A:p.D29N,BAD:NM_032989:exon2:c.G85A:p.D29N	.	414	1106	1	1	0	3	0.0013544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0157522902245	7.7e-05	.	0.0001	0	0	0.0008	0	9.305e-05	0	0	9.06e-05	14	154602	rs151235996	7.262e-05	7.251e-05	7.363e-05	7.161e-05	0.0004	6.124e-05	5.708e-05	0.0002	0.0002	0	0	0	0.0004	0	0.0002	7.285e-05	0.0001	2.319e-05	4.599e-05	4.596e-05	5.138e-05	4.034e-05	0.0002	2.109e-05	1.527e-05	4.88e-06	1.83e-06	2.412e-05	0	6.539e-05	0	0.0002	0	0	2.94e-05	0.0005	0.0002	0.159	0.41637	T	0.1	0.92824	T	0.977	0.90584	D	0.856	0.72001	P	0.000347	0.45440	D	0.000000	0.530898	0.31974	D	1.75	0.45442	L	0.7	0.51474	T	-2.07	0.75456	N	0.098	0.19593	-0.7670	0.57022	T	0.220	0.58292	T	10	0.07376987	0.11190	T	0.015752	0.36654	T	0.098	0.28162	.	.	0.730039547849	0.72763	0.15002142910672836	0.14924	0.924360987109	0.71577	0.454899519682	0.32613	T	0.510964	0.82710	D	-0.461328	0.00965	T	-0.501562	0.22186	T	0.432607144117355	0.30157	T	0.689231	0.29860	T	0.060191885	0.12321	0.079034574	0.17756	0.060191885	0.12320	0.079034574	0.17756	-4.666	0.32990	T	.	.	0.077	0.38372	B	.;.;.;.	.;.;.;.	1.866259	0.23708	16.12	0.99806856053121884	0.89085	0.08001	0.13981	N	AEFDGBHCI	0.092953	0.18813	N	0.0359786493266503	0.43499	2.641581	-0.131720716882279	0.34120	1.959098	0.999996070493072	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	3.41	2.47	0.29113	-0.114000	0.10729	0.798000	0.21632	-0.185000	0.09859	0.000000	0.06391	0.986000	0.30841	0.011000	0.09372	0.2401:0.7599:0.0:0.0	8.101	0.30018	653	0.62661	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2400.33	35	chr11	64284284	.	C	T	2400.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.181;DP=814;ExcessHet=0;FS=1.165;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-1.583;SOR=0.807	GT:AD:DP:GQ:PL	0/1:85,95:180:99:2414,0,2115	18	0	1	0
chr11	64650495	64650495	C	A	exonic	NRXN2	.	nonsynonymous SNV	NRXN2:NM_138732:exon13:c.G2942T:p.R981L,NRXN2:NM_001376265:exon14:c.G3017T:p.R1006L,NRXN2:NM_001376262:exon15:c.G3062T:p.R1021L,NRXN2:NM_001376263:exon15:c.G3041T:p.R1014L,NRXN2:NM_001376266:exon15:c.G3038T:p.R1013L,NRXN2:NM_001376267:exon15:c.G3041T:p.R1014L,NRXN2:NM_015080:exon15:c.G3062T:p.R1021L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.568	0.042790129407	.	.	8.236e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs781265629	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.987e-05	2.3e-07	9e-08	.	.	2.987e-05	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.24955	T	0.002	0.79402	D	0.712	0.61912	P	0.474	0.64984	P	0.000496	0.43931	U	0.000000	0.999906	0.50806	D	0.62	0.15745	N	-1.14	0.77843	T	-3.75	0.71157	D	0.615	0.66101	-0.0716	0.80744	T	0.461	0.79095	T	10	0.77108586	0.77088	D	0.04279	0.60646	D	0.568	0.82403	0.717	0.85230	0.391520894214	0.38767	0.6517620603208216	0.65112	1.79356630944	0.91544	0.636340856552	0.58045	T	0.433677	0.78102	T	0.0380679	0.56792	T	-0.0139663	0.69426	D	0.959173679351807	0.65464	D	0.978602	0.92442	D	0.30152982	0.53042	0.32751033	0.58648	0.30152982	0.53042	0.32751033	0.58648	-9.927	0.74163	D	.	.	0.566	0.69489	P	.;.;.;.	.;.;.;.	4.748530	0.76647	26.6	0.99816710911406348	0.89973	0.95079	0.63361	D	AEFDGBI	0.737641	0.68277	D	0.372058399231032	0.59912	4.174881	0.404695162514878	0.61858	4.391805	0.999960698926164	0.48965	0.625279	0.40028	0	0.547309	0.14657	0	0.687403	0.62504	0	0.542086	0.14980	0	.	.	4.49	4.49	0.54177	1.770000	0.38162	5.892000	0.50774	0.599000	0.40250	0.991000	0.37257	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.055	0.71574	431	0.80762	Laminin G domain|Laminin G domain|Laminin G domain;.;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G 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	.	.	.	.	.	.	.	.	0.02632	1783.33	34	chr11	64650495	.	C	A	1783.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=775;ExcessHet=0;FS=1.34;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=2.02;SOR=0.853	GT:AD:DP:GQ:PL	0/1:84,69:153:99:1797,0,2193	18	0	1	0
chr11	64767031	64767033	GGC	-	exonic	SF1	.	nonframeshift deletion	SF1:NM_001346409:exon11:c.1104_1106del:p.P370del,SF1:NM_001346410:exon11:c.1108_1110del:p.A370del,SF1:NM_001178030:exon12:c.1824_1826del:p.P610del,SF1:NM_001178031:exon12:c.1371_1373del:p.P459del,SF1:NM_001346363:exon12:c.1444_1446del:p.A482del,SF1:NM_001346364:exon12:c.1444_1446del:p.A482del,SF1:NM_001378956:exon12:c.1824_1826del:p.P610del,SF1:NM_001378957:exon12:c.1824_1826del:p.P610del,SF1:NM_004630:exon12:c.1449_1451del:p.P485del,SF1:NM_201995:exon12:c.1449_1451del:p.P485del,SF1:NM_201997:exon12:c.1453_1455del:p.A485del,SF1:NM_201998:exon12:c.1449_1451del:p.P485del	.	0	216	9	1	0	11	0.0248307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0078	.	0.0020	0.0006	0.0020	0.0012	0.0008	0.0021	0.0054	0.0044	0.0009989	26	26028	rs71581802	0.0014	0.0027	0.0012	0.0016	0.0061	0.0013	0.0013	0.0051	0.0049	0.0004	0.0018	0.0033	0.0016	0.0004	0.0061	0.0011	0.0020	0.0055	0.0013	0.0014	0.0012	0.0014	0.0062	0.0012	0.0011	0.0045	0.0039	0.0004	0.0066	0.0010	0.0032	0.0006	0.0004	0.0136	0.0016	0.0028	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013875	0.020408	0.008287	0.011905	0.000000	0.018182	0.009317	0.019531	0.02632	1514.29	36	chr11	64767030	.	AGGC	A	1514.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.69;DP=734;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.74;ReadPosRankSum=0.625;SOR=0.809	GT:AD:DP:GQ:PL	0/1:34,39:73:99:1528,0,1310	18	0	1	0
chr11	65044588	65044588	G	A	exonic	SAC3D1	.	nonsynonymous SNV	SAC3D1:NM_013299:exon2:c.G938A:p.R313H,SAC3D1:NM_001367485:exon3:c.G938A:p.R313H	.	417	1104	1	0	0	1	0.000452694	.	.	.	2205825	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.005	0.00325466506456	.	.	8.3e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs758781513	4.173e-05	4.173e-05	4.492e-05	3.85e-05	0.0001	3.311e-05	3.001e-05	4.358e-05	2.836e-05	2.987e-05	0.0001	0	5.038e-05	1.876e-05	0	4.137e-05	3.311e-05	4.637e-05	1.314e-05	1.313e-05	0	2.69e-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	0.178	0.22138	T	0.449	0.12993	T	.	.	.	.	.	.	0.580553	0.05533	N	1.277670	1	0.08975	N	.	.	.	1.52	0.30669	T	0.04	0.06488	N	0.111	0.09772	-1.0022	0.29284	T	0.039	0.16720	T	10	0.057752877	0.06683	T	0.003255	0.07177	T	0.005	0.00259	.	.	0.193865811164	0.18958	0.21337442591655806	0.21253	0.505489452622	0.48788	0.273733228445	0.06633	T	0.003445	0.02849	T	-0.526218	0.00404	T	-0.796681	0.01987	T	0.0259968591521307	0.01405	T	0.672333	0.28093	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	0.120364	0.05179	1.696	0.82112183323523935	0.14025	0.03029	0.07912	N	AEFGBI	0.095841	0.19358	N	-1.39717640377038	0.02665	0.1179931	-1.45922306649103	0.02687	0.124072	0.999993821173395	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.84	-4.78	0.02975	-2.166000	0.01358	-2.536000	0.03636	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.093000	0.17941	0.5857:0.0:0.2868:0.1275	6.9	0.23458	328	0.86572	Proteasome component (PCI) domain;Proteasome component (PCI) 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	.	.	.	.	.	.	.	.	0.02632	1250.33	34	chr11	65044588	.	G	A	1250.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.366;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=1.51;SOR=0.718	GT:AD:DP:GQ:PL	0/1:52,48:100:99:1264,0,1310	18	0	1	0
chr11	65599519	65599519	-	GGGAAGGGGGCGGCTCGGTCGGGC	exonic	MAP3K11	.	nonframeshift insertion	MAP3K11:NM_002419:exon9:c.2080_2081insGCCCGACCGAGCCGCCCCCTTCCC:p.S693_P694insRPTEPPPS	.	409	1111	2	0	0	2	0.000899281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0002	0	0.0002	0.0003	0.0013	8.288e-05	3.84e-05	1	26028	rs746165183	9.227e-05	9.782e-05	8.653e-05	9.817e-05	0.0002	7.841e-05	7.392e-05	8.055e-05	7.518e-05	0	9.366e-05	0	0	0.0002	0.0002	9.615e-05	0.0002	1.405e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.243e-05	0.0001	9.903e-05	2.413e-05	0	0.0003	0	0	0.0004	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	530.29	34	chr11	65599519	.	G	GGGGAAGGGGGCGGCTCGGTCGGGC	530.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.301;DP=704;ExcessHet=0;FS=4.987;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.188;SOR=1.655	GT:AD:DP:GQ:PL	0/1:24,15:39:99:544,0,947	18	0	1	0
chr11	65635410	65635410	A	T	exonic	PCNX3	.	nonsynonymous SNV	PCNX3:NM_032223:exon31:c.A5146T:p.M1716L	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.0236708941174	.	.	.	.	.	.	.	.	.	.	.	.	.	rs756154906	1.37e-06	1.368e-06	1.363e-06	1.377e-06	5.979e-05	2.3e-07	9e-08	9.9e-06	3.7e-06	5.979e-05	0	0	0	0	0	0	0	0	6.575e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.01	0.65728	D	0.303	0.32643	B	0.59	0.50460	P	0.000000	0.84330	D	0.000000	0.976169	0.39252	D	2.36	0.67893	M	0.81	0.48460	T	-2.84	0.59873	D	0.692	0.69737	-0.5993	0.64846	T	0.243	0.61095	T	10	0.6754345	0.70962	D	0.023671	0.46640	T	0.293	0.61272	0.742	0.87401	0.780186799797	0.77816	0.842716801458011	0.84232	.	.	0.818413496017	0.84785	D	0.324439	0.69525	T	0.00571239	0.52440	T	-0.229571	0.51813	T	0.942934572696686	0.61761	D	0.979602	0.93000	D	0.4921587	0.66631	0.48601013	0.70251	0.4921587	0.66632	0.48601013	0.70251	-9.028	0.67877	D	.	.	0.599	0.68834	P	.	.	4.294647	0.65523	24.8	0.98827193332091967	0.46886	0.99743	0.99133	D	AEFDGBIJ	0.908823	0.86465	D	0.349672450303646	0.58724	4.046303	0.378417626223348	0.60237	4.209005	0.99999975676806	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.11	4.11	0.47350	8.601000	0.90647	11.125000	0.86648	0.641000	0.52212	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	11.120	0.47503	275	0.89190	Pecanex, C-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	.	.	.	.	.	.	.	.	0.02632	1473.33	33	chr11	65635410	.	A	T	1473.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.45;DP=792;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=0.805;SOR=0.709	GT:AD:DP:GQ:PL	0/1:92,57:149:99:1487,0,2522	18	0	1	0
chr11	66699460	66699460	T	C	exonic	SPTBN2	.	nonsynonymous SNV	SPTBN2:NM_006946:exon18:c.A3722G:p.E1241G	Spinocerebellar ataxia 5, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 14, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	441459	not_provided|Spinocerebellar_ataxia_type_5|Autosomal_recessive_spinocerebellar_ataxia_14|not_specified|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0010848,MedGen:C0752123,OMIM:600224,Orphanet:98766|MONDO:MONDO:0014159,MedGen:C4706415,OMIM:615386,Orphanet:352403|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.038	0.0074391179249	0.0012	0.000199681	0.0007	0.0002	0.0008	0	0	0.0008	0	0.0016	0.0007115	110	154602	rs141683210	0.0010	0.0010	0.0010	0.0010	0.0016	0.0010	0.0010	0.0014	0.0013	0.0001	0.0003	0.0008	0	5.616e-05	0.0005	0.0011	0.0008	0.0016	0.0006	0.0006	0.0006	0.0006	0.0015	0.0005	0.0004	0.0008	0.0007	0.0001	0	0.0004	0	0	0	0	0.0010	0.0009	0.0015	0.025	0.47320	D	0.089	0.40747	T	0.003	0.11197	B	0.008	0.13708	B	0.482493	0.12149	N	0.757438	0.986274	0.24632	N	0.395	0.12235	N	0.63	0.53088	T	-4.39	0.77225	D	0.152	0.16308	-1.0262	0.21690	T	0.077	0.30767	T	10	0.016491503	0.00348	T	0.007439	0.19739	T	0.038	0.09825	.	.	0.401208672323	0.39738	0.1413639102444736	0.14059	0.480005790873	0.47024	0.266203522682	0.05653	T	0.385556	0.74693	T	-0.519105	0.00445	T	-0.525698	0.19720	T	0.0384204390514704	0.03407	T	0.540346	0.18307	T	0.15997092	0.35906	0.19341065	0.42908	0.15997092	0.35905	0.19341065	0.42907	-5.353	0.41775	T	0.2332572537021219	0.31575	0.081	0.09385	B	.;.;.	.;.;.	1.807439	0.22973	15.83	0.99398590320853475	0.62702	0.42304	0.26848	N	AEFDBI	0.164559	0.29096	N	-0.735650994326193	0.15026	0.7536364	-0.678433153395733	0.17500	0.9308354	0.246730484289458	0.18634	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	5.0	-0.00344	0.13348	1.814000	0.38610	-0.041000	0.12668	-0.186000	0.09761	0.356000	0.25809	0.000000	0.08366	0.964000	0.52637	0.0:0.2557:0.1386:0.6057	5.777	0.17549	226	0.91233	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1269.33	35	chr11	66699460	.	T	C	1269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.808;DP=740;ExcessHet=0;FS=0.804;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=0.844;SOR=0.883	GT:AD:DP:GQ:PL	0/1:46,46:92:99:1283,0,1166	18	0	1	0
chr11	66721149	66721149	G	A	exonic	SPTBN2	.	nonsynonymous SNV	SPTBN2:NM_006946:exon3:c.C92T:p.S31L	Spinocerebellar ataxia 5, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 14, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	441483	not_provided|Inborn_genetic_diseases|Spinocerebellar_ataxia_type_5|Autosomal_recessive_spinocerebellar_ataxia_14|not_specified	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010848,MedGen:C0752123,OMIM:600224,Orphanet:98766|MONDO:MONDO:0014159,MedGen:C4706415,OMIM:615386,Orphanet:352403|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.071	0.010221900177	0.0012	.	0.0006	0.0002	0.0005	0	0	0.0008	0	0.0006	0.0005692	88	154602	rs147766428	0.0010	0.0010	0.0010	0.0009	0.0011	0.0009	0.0009	0.0011	0.0011	0.0001	0.0003	0.0008	0	5.616e-05	0.0003	0.0011	0.0007	0.0005	0.0005	0.0005	0.0006	0.0005	0.0010	0.0005	0.0004	0.0008	0.0007	0.0001	0	0.0004	0	0	0	0	0.0010	0.0009	0.0004	0.2	0.20607	T	0.341	0.30631	T	0.013	0.16609	B	0.007	0.12992	B	0.015870	0.28130	N	0.328291	0.999986	0.18198	N	0	0.06538	N	0.33	0.58323	T	-1.64	0.51968	N	0.202	0.22357	-1.0791	0.07524	T	0.078	0.31224	T	10	0.029143512	0.01042	T	0.010222	0.26500	T	0.071	0.20720	.	.	0.43068463968	0.42687	0.28380285629432533	0.28293	0.707441371052	0.61489	0.531617999077	0.43263	T	0.263048	0.63469	T	-0.46304	0.00941	T	-0.445165	0.28232	T	0.0147897285512416	0.00311	T	0.860614	0.55382	D	0.11360131	0.26828	0.10256012	0.24584	0.11360131	0.26828	0.10256012	0.24583	-4.54	0.31408	T	.	.	0.117	0.23779	B	.;.;.;.;.;.	.;.;.;.;.;.	4.776897	0.77386	26.7	0.9943003796305272	0.64227	0.71383	0.34989	D	AEFDGBI	0.243816	0.36503	N	-0.257089568674121	0.30822	1.722218	-0.0512026168481646	0.37439	2.192049	0.999997411071743	0.74766	0.722319	0.85440	0	0.610034	0.51514	0	0.698795	0.65105	0	0.655142	0.61905	0	.	.	4.58	3.65	0.40985	2.180000	0.42167	9.572000	0.81012	0.676000	0.76740	0.974000	0.34632	1.000000	0.68203	0.994000	0.71098	0.0951:0.0:0.6131:0.2917	6.257	0.20089	240	0.90628	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2026.33	37	chr11	66721149	.	G	A	2026.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=760;ExcessHet=0;FS=2.065;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-0.173;SOR=0.864	GT:AD:DP:GQ:PL	0/1:71,77:148:99:2040,0,1675	18	0	1	0
chr11	66849651	66849651	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon19:c.G3107A:p.R1036H,PC:NM_000920:exon20:c.G3107A:p.R1036H,PC:NM_001040716:exon21:c.G3107A:p.R1036H	Pyruvate carboxylase deficiency, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	200187	not_provided|Pyruvate_carboxylase_deficiency|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0009949,MedGen:C0034341,OMIM:266150,Orphanet:3008|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.658	0.242358896636	0.0012	.	0.0006	0.0002	0.0005	0	0	0.0009	0	0.0005	0.0006209	96	154602	rs141237842	0.0010	0.0010	0.0010	0.0009	0.0012	0.0009	0.0009	0.0011	0.0011	0.0001	0.0003	0.0008	0	5.618e-05	0.0003	0.0012	0.0006	0.0004	0.0006	0.0006	0.0006	0.0005	0.0010	0.0005	0.0004	0.0008	0.0008	0.0001	0	0.0004	0	0	0	0	0.0010	0.0009	0.0004	0.029	0.45756	D	0.027	0.55341	D	0.543	0.37944	P	0.19	0.36341	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.77	0.45869	L	-1.71	0.95922	D	-4.36	0.76980	D	0.732	0.73285	0.841	0.94911	D	0.831	0.94341	D	10	0.47667927	0.60185	T	0.242359	0.88756	D	0.658	0.87184	.	.	0.887476936082	0.88637	.	.	0.714140963439	0.61866	0.739421010017	0.72887	T	0.095567	0.86274	T	-0.02223	0.48535	T	0.188028	0.82457	D	0.0657500550150871	0.08042	T	0.880312	0.59828	D	0.45784056	0.64536	0.20735022	0.44989	0.45784056	0.64537	0.20735022	0.44988	-6.975	0.53851	T	0.8954397273031476	0.94871	.	.	.	.;.;.;.	.;.;.;.	3.824677	0.55248	23.6	0.99721870547333069	0.82125	0.94779	0.62300	D	AEFDGBCI	0.856789	0.77407	D	0.319459980327587	0.57148	3.881128	0.357094068437907	0.58937	4.067477	0.999999999999974	0.74766	0.660377	0.49826	0	0.611049	0.52481	0	0.606735	0.37207	0	0.592323	0.36904	0	.	.	4.45	4.45	0.53365	3.620000	0.53944	7.627000	0.62562	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:1.0:0.0:0.0	14.946	0.70678	408	0.82256	Carboxylase, conserved domain;Carboxylase, conserved domain;Carboxylase, conserved domain;Carboxylase, conserved 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1285.33	33	chr11	66849651	.	C	T	1285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.049;DP=795;ExcessHet=0;FS=0.652;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=2.43;SOR=0.602	GT:AD:DP:GQ:PL	0/1:82,54:136:99:1299,0,2100	18	0	1	0
chr11	67608412	67608412	C	G	exonic	NDUFV1	.	nonsynonymous SNV	NDUFV1:NM_001166102:exon2:c.C62G:p.T21S,NDUFV1:NM_007103:exon2:c.C89G:p.T30S	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0237339634623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.21634	T	0.231	0.25438	T	0.005	0.12996	B	0.007	0.16460	B	0.000081	0.52346	D	0.167753	0.999951	0.81001	D	1.735	0.44892	L	-1.19	0.78427	T	-1.01	0.48850	N	0.342	0.40465	-0.4870	0.69115	T	0.348	0.71289	T	10	0.3319496	0.50409	T	0.023734	0.46713	T	0.249	0.55752	0.257	0.19845	0.822129434029	0.82045	0.6979377297507748	0.69734	0.238803893762	0.26431	0.763441562653	0.76443	T	0.245562	0.61488	T	-0.078465	0.39963	T	-0.350486	0.39149	T	0.744090855121613	0.42959	D	0.776122	0.40827	T	0.107709534	0.25468	0.062265858	0.12156	0.107709534	0.25468	0.062265858	0.12155	-6.651	0.51440	T	.	.	0.082	0.26576	B	.;.;.;.;.;.	.;.;.;.;.;.	3.411859	0.47334	22.4	0.98490803181232456	0.42096	0.97411	0.74579	D	AEFBI	0.809988	0.73335	D	0.0583570156422493	0.44526	2.725182	0.196330027643671	0.49646	3.165261	0.999999985050494	0.74766	0.732398	0.92422	0	0.685571	0.66316	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.77	3.84	0.43422	5.647000	0.67597	4.850000	0.45366	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9063:0.0:0.0937	11.086	0.47306	774	0.48577	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2143	556.75	153	chr11	67608412	.	C	G	556.75	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-4.434;DP=2846;ExcessHet=2.0135;FS=131.701;InbreedingCoeff=-0.3119;MLEAC=8;MLEAF=0.286;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.15;SOR=11.518	GT:AD:DP:GQ:PL	0/1:121,29:162:40:40,0,2611	8	0	6	5
chr11	68439820	68439820	G	C	exonic	LRP5	.	nonsynonymous SNV	LRP5:NM_001291902:exon21:c.G2649C:p.M883I,LRP5:NM_002335:exon21:c.G4392C:p.M1464I	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	YES	3792316	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.334	0.190776583899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.056e-06	2.052e-06	2.727e-06	1.378e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.064	0.44905	T	0.001	0.07471	B	0.003	0.08700	B	0.004237	0.33968	U	0.146929	0.999988	0.54805	D	2.43	0.70455	M	-3.18	0.93111	D	-1.23	0.31170	N	0.458	0.49511	0.396	0.89033	D	0.759	0.91784	D	10	0.36483747	0.53019	T	0.190777	0.86144	D	0.334	0.65620	0.34	0.33141	0.731377292797	0.72898	0.3086789218040176	0.30780	0.48238453677	0.47196	0.514059185982	0.40790	T	0.375771	0.73930	T	0.164891	0.70653	D	-0.000921912	0.70276	D	0.781597980332368	0.45150	D	0.972803	0.90184	D	0.4257034	0.62470	0.19002475	0.42383	0.4257034	0.62470	0.19002475	0.42382	-3.789	0.20640	T	0.12225309363075094	0.11694	0.286	0.51806	B	.	.	2.514172	0.32476	19.05	0.99317466258919707	0.59241	0.98176	0.80261	D	AEFDBI	0.913335	0.87518	D	0.161372434734483	0.49351	3.136545	0.303570878769973	0.55749	3.737746	0.999999999874775	0.74766	0.741868	0.97996	0	0.653731	0.59785	0	0.774882	0.98623	0	0.714379	0.83352	0	.	.	4.76	4.76	0.60189	7.643000	0.82546	5.008000	0.46647	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.025	0.89190	735	0.53711	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2163.33	33	chr11	68439820	.	G	C	2163.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.588;DP=814;ExcessHet=0;FS=0.555;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.702;SOR=0.639	GT:AD:DP:GQ:PL	0/1:85,97:182:99:2177,0,1994	18	0	1	0
chr11	70486902	70486902	C	T	exonic	SHANK2	.	nonsynonymous SNV	SHANK2:NM_133266:exon10:c.G1627A:p.D543N,SHANK2:NM_001379226:exon15:c.G2254A:p.D752N,SHANK2:NM_012309:exon25:c.G3391A:p.D1131N	.	0	1519	2	1	0	4	0.00131492	.	.	.	2813466	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.014	0.00852761328051	7.7e-05	0.000199681	3.444e-05	0.0003	0	0	0	1.582e-05	0	0	3.23e-05	5	154602	rs377435833	3.287e-05	3.283e-05	2.317e-05	4.267e-05	0.0014	2.546e-05	2.251e-05	0.0007	0.0005	0.0006	0	0	0	0	0.0014	8.994e-06	0.0002	0	2.626e-05	2.624e-05	5.138e-05	0	4.81e-05	8.14e-06	5.14e-06	7.97e-06	2.98e-06	4.81e-05	0	0	0	0	0	0	2.94e-05	0	0	0.542	0.33923	T	0.322	0.22154	T	0.099	0.25639	B	0.04	0.23831	B	0.106312	0.19620	N	0.571184	1	0.08975	N	.	.	.	0.86	0.46777	T	0.3	0.37955	N	0.136	0.23253	-1.0554	0.12934	T	0.060	0.25018	T	10	0.027055353	0.00859	T	0.008528	0.22557	T	0.014	0.01968	.	.	0.123314135267	0.11883	0.43117579873996686	0.43034	0.448811800939	0.44695	0.295215249062	0.09689	T	0.013891	0.12296	T	-0.433128	0.01420	T	-0.623267	0.10931	T	0.0191271398216486	0.00620	T	0.822018	0.48145	T	.	.	.	.	.	.	.	.	-4.554	0.31589	T	.	.	0.069	0.05231	B	.;.;.;.;.	.;.;.;.;.	0.874578	0.12478	9.008	0.74311447453781088	0.10648	0.04667	0.10344	N	AEFDBI	0.082122	0.16625	N	-1.02172345604998	0.08153	0.3813323	-0.984348184920026	0.10136	0.5086319	0.220500470561988	0.18349	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.05	2.81	0.31971	1.132000	0.31031	0.200000	0.15841	-0.193000	0.09282	0.005000	0.17040	0.000000	0.08366	0.004000	0.06068	0.0:0.599:0.0:0.401	6.239	0.19989	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	0	0	1	0	0.003525	0.000000	0.004076	0.002924	0.000000	0.025862	0.000000	0.000000	0.02632	1837.33	34	chr11	70486902	.	C	T	1837.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.806;DP=965;ExcessHet=0;FS=5.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-1.264;SOR=0.738	GT:AD:DP:GQ:PL	0/1:71,68:139:99:1851,0,1952	18	0	1	0
chr11	73395459	73395459	G	A	exonic	RELT	.	nonsynonymous SNV	RELT:NM_032871:exon11:c.G1261A:p.V421I,RELT:NM_152222:exon11:c.G1261A:p.V421I	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260	0.0546604434152	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1407636554	0	1.754e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.819	0.45682	P	0.157	0.34536	B	0.174315	0.17283	N	0.427422	0.738441	0.29759	N	1.04	0.26193	L	-1.09	0.77206	T	-0.1	0.08495	N	0.117	0.10626	-0.6482	0.62792	T	0.216	0.57771	T	10	0.15258184	0.28819	T	0.05466	0.65942	D	0.260	0.57221	0.227	0.15257	0.260735089382	0.25697	0.3191258488844347	0.31825	0.480290553402	0.47047	0.435096591711	0.29906	T	0.019247	0.15372	T	0.042003	0.57306	T	-0.177442	0.56758	T	0.64197097231447	0.38120	D	0.668433	0.27736	T	0.13769594	0.31873	0.13978565	0.33341	0.13769594	0.31873	0.13978565	0.33340	-3.088	0.11159	T	.	.	0.098	0.16099	B	.;.	.;.	3.470952	0.48428	22.6	0.99826219759926227	0.90852	0.82598	0.41803	D	AEFGBCI	0.116020	0.22787	N	-0.0208421082589376	0.40912	2.437953	0.0256166376676041	0.40908	2.448952	0.999996404913469	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.05	3.14	0.35196	3.516000	0.53194	5.838000	0.50223	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1159:0.0:0.8841:0.0	7.410	0.26186	393	0.83123	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2082.33	36	chr11	73395459	.	G	A	2082.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.1;DP=838;ExcessHet=0;FS=2.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=1.64;SOR=0.925	GT:AD:DP:GQ:PL	0/1:83,77:160:99:2096,0,2107	18	0	1	0
chr11	78738526	78738526	G	A	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon20:c.C2801T:p.T934I	Tremor, hereditary essential, 5, Autosomal dominant	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.0108211425973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.26965	T	0.001	0.83351	D	0.981	0.59675	D	0.69	0.53781	P	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	1.7	0.43825	L	2.52	0.14160	T	-4.83	0.80943	D	0.671	0.67908	-1.1278	0.01890	T	0.077	0.30798	T	9	0.77375865	0.77291	D	0.010821	0.27789	T	0.349	0.67049	0.493	0.58048	0.161926535498	0.15789	0.7651740756530507	0.76466	0.492389837339	0.47886	0.810723781586	0.83603	D	0.645357	0.89173	D	0.0917611	0.63387	D	-0.105968	0.62930	T	0.992935597896576	0.83554	D	0.989401	0.96508	D	0.5712426	0.71128	0.45812762	0.68514	0.5712426	0.71129	0.45812762	0.68514	-9.756	0.72438	D	0.6258929337651915	0.69475	0.618	0.69608	P	.	.	4.699715	0.75395	26.3	0.99895696524388555	0.96895	0.97441	0.74770	D	AEFDBI	0.849390	0.76621	D	0.719747633720264	0.80928	7.404143	0.721012042466659	0.83975	8.16472	0.999999999811127	0.74766	0.553676	0.25195	0	0.563428	0.19063	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.08	5.08	0.68373	8.190000	0.89672	11.725000	0.94886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.033	0.92948	922	0.19044	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1181.33	33	chr11	78738526	.	G	A	1181.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.239;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.59;SOR=0.735	GT:AD:DP:GQ:PL	0/1:58,47:105:99:1195,0,1549	18	0	1	0
chr11	85882630	85882630	A	G	exonic	CCDC83	.	nonsynonymous SNV	CCDC83:NM_001286159:exon4:c.A298G:p.K100E,CCDC83:NM_173556:exon4:c.A298G:p.K100E	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0151759730969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000087	0.51296	D	0.135206	0.930427	0.36957	D	2.695	0.78878	M	0.72	0.52187	T	-2.33	0.51646	N	0.404	0.54059	-0.7510	0.57883	T	0.243	0.61095	T	9	0.377288	0.53928	T	0.015176	0.35761	T	0.221	0.51721	0.439	0.49321	0.281381271821	0.27740	0.2499350489159538	0.24907	0.192581990809	0.21586	0.581255793571	0.50262	T	0.060024	0.31273	T	0.0568259	0.59213	T	-0.15615	0.58696	T	0.963364601135254	0.66637	D	0.613939	0.23413	T	0.26631176	0.49701	0.356228	0.61137	0.26631176	0.49700	0.356228	0.61137	-3.827	0.21824	T	.	.	0.267	0.50166	B	.;.	.;.	4.156685	0.62392	24.5	0.99887278936545154	0.96204	0.94398	0.61038	D	AEFBI	0.560480	0.56887	D	0.447052081726512	0.64037	4.649356	0.506217133595415	0.68409	5.215877	0.0590439686342105	0.15148	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.87	5.87	0.94266	3.816000	0.55363	8.027000	0.76256	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	1.0:0.0:0.0:0.0	13.804	0.62709	718	0.55760	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1217.33	36	chr11	85882630	.	A	G	1217.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.256;DP=734;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-0.843;SOR=0.67	GT:AD:DP:GQ:PL	0/1:42,50:92:99:1231,0,1164	18	0	1	0
chr11	104954915	104954915	G	C	exonic	CASP4	.	nonsynonymous SNV	CASP4:NM_001225:exon2:c.C94G:p.Q32E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00193032320399	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs777635897	6.843e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	6.583e-06	6.57e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.28	0.35726	T	0.198	0.27767	T	0.001	0.07471	B	0.01	0.14941	B	0.171206	0.17369	N	0.610998	1	0.08975	N	0.69	0.16971	N	2.14	0.19450	T	-0.04	0.07590	N	0.105	0.08925	-1.0188	0.24106	T	0.028	0.11926	T	10	0.052387625	0.05265	T	0.00193	0.03430	T	0.016	0.02506	0.3	0.26683	0.227260227426	0.22338	0.19389305298959106	0.19307	0.0776255776379	0.08728	0.343820661306	0.17008	T	0.045358	0.27099	T	-0.258825	0.13037	T	-0.609561	0.12020	T	0.171449035406113	0.18678	T	0.177182	0.11480	T	0.0794932	0.18164	0.059454773	0.11160	0.0794932	0.18163	0.059454773	0.11160	-2.761	0.07830	T	.	.	0.067	0.04889	B	.;.	.;.	0.329184	0.07030	3.595	0.32873160715954791	0.01928	0.02517	0.07017	N	AEFGBI	0.059444	0.11227	N	-1.27456846355087	0.03984	0.1790058	-1.30404470978923	0.04378	0.2063447	0.219587335745802	0.18340	0.706298	0.61202	0	0.688494	0.66719	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.6	1.22	0.20300	0.524000	0.22648	2.973000	0.35807	-0.258000	0.06954	0.006000	0.17386	0.576000	0.25597	0.016000	0.10718	0.0:0.1112:0.202:0.6868	4.849	0.12890	894	0.26265	CARD domain|CARD domain|CARD domain;CARD domain|CARD domain|CARD 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	.	.	.	.	.	.	.	.	0.02632	1904.33	36	chr11	104954915	.	G	C	1904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=799;ExcessHet=0;FS=1.234;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.139;SOR=0.822	GT:AD:DP:GQ:PL	0/1:86,76:162:99:1918,0,2119	18	0	1	0
chr11	113780144	113780144	C	T	exonic	CLDN25	.	nonsynonymous SNV	CLDN25:NM_001101389:exon1:c.C349T:p.R117W	.	422	1098	2	0	0	2	0.000909918	.	.	.	2723175	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.103	0.0313743759863	8.2e-05	.	5.797e-05	0	0.0002	0	0	7.492e-05	0	0	4.53e-05	7	154602	rs368993117	6.841e-05	6.84e-05	6.262e-05	7.426e-05	0.0007	5.713e-05	5.326e-05	0.0002	0.0001	0	0.0002	0	0	0	0.0007	7.015e-05	9.938e-05	1.159e-05	6.571e-05	6.567e-05	6.423e-05	6.726e-05	0.0003	3.517e-05	2.616e-05	8.88e-05	5.388e-05	0	0	0.0003	0	0	0	0	7.349e-05	0	0.0002	0.098	0.30800	T	0.103	0.38305	T	0.064	0.23455	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.96	0.53105	M	-0.1	0.64264	T	-3.32	0.66085	D	0.196	0.21580	-0.9124	0.46556	T	0.172	0.51325	T	9	0.093416095	0.16528	T	0.031374	0.53475	D	0.103	0.29403	.	.	0.218845423259	0.21516	0.4223300298365987	0.42150	0.0220416311012	0.02206	0.270285397768	0.06178	T	0.739038	0.92756	D	-0.368179	0.03687	T	-0.481926	0.24241	T	0.0442660593077279	0.04468	T	0.570043	0.20293	T	0.07888709	0.17991	0.13838136	0.33049	0.07888709	0.17991	0.13838136	0.33048	-5.33	0.40239	T	.	.	0.096	0.15564	B	.	.	0.703888	0.10728	7.418	0.71545330734592549	0.09665	0.07625	0.13634	N	AEFBI	0.160428	0.28636	N	-1.23283083874519	0.04531	0.2046841	-1.38204466937299	0.03443	0.1606219	0.994802712372525	0.33809	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.1	-7.08	0.01404	-1.235000	0.03037	-3.627000	0.02647	-0.968000	0.01952	0.000000	0.06391	0.000000	0.08366	0.083000	0.17415	0.2416:0.6639:0.0:0.0945	7.369	0.25965	559	0.71409	.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1985.33	34	chr11	113780144	.	C	T	1985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.325;DP=821;ExcessHet=0;FS=1.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.928;SOR=0.889	GT:AD:DP:GQ:PL	0/1:90,79:169:99:1999,0,2231	18	0	1	0
chr11	114530269	114530269	G	C	exonic	NXPE1	.	nonsynonymous SNV	NXPE1:NM_152315:exon3:c.C313G:p.P105A,NXPE1:NM_001367953:exon5:c.C739G:p.P247A	.	431	1028	61	2	0	65	0.0306459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	.	0.0036	0.00559105	0.0069	0.0011	0.0036	0.0002	0.0003	0.0060	0.0165	0.0222	0.0063065	975	154602	rs45609739	0.0056	0.0056	0.0050	0.0063	0.0227	0.0055	0.0055	0.0207	0.0204	0.0010	0.0036	0.0022	5.038e-05	0.0006	0.0227	0.0050	0.0068	0.0215	0.0042	0.0042	0.0039	0.0045	0.0189	0.0039	0.0038	0.0157	0.0146	0.0010	0.0340	0.0051	0.0020	0	0.0005	0.0204	0.0053	0.0085	0.0189	0.011	0.57480	D	0.037	0.56640	D	1.0	0.90584	D	0.998	0.88582	D	0.000032	0.55875	D	0.000000	1	0.08975	N	3.145	0.88303	M	1.81	0.64818	T	-5.65	0.93697	D	0.587	0.63035	-0.3800	0.72651	T	0.419	0.76503	T	10	0.005137056	0.00112	T	.	.	.	0.300	0.62068	.	.	0.389439708392	0.38560	0.4717352409557836	0.47092	0.16594407476	0.18725	0.33301743865	0.15389	T	0.236518	0.60401	T	-0.316631	0.07178	T	-0.210675	0.53631	T	0.0314134618907065	0.02212	T	0.90111	0.65631	D	0.39157385	0.60144	0.577302	0.75507	0.39157385	0.60144	0.577302	0.75508	-9.493	0.70815	D	.	.	0.423	0.61041	A	.;.;.;.	.;.;.;.	4.447330	0.69097	25.3	0.99347243344324987	0.60412	0.86495	0.45787	D	AEFBI	0.408249	0.48000	N	0.630376840640656	0.75105	6.247449	0.475806938901561	0.66391	4.945904	0.0134415062130334	0.12466	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.29	4.29	0.50359	3.630000	0.54014	3.198000	0.36737	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.055	0.71574	889	0.27310	.;.;.;.	.	.	.	.	.	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	0.026183	0.005051	0.025815	0.008772	0.100000	0.017241	0.039634	0.053030	0.07895	4554.79	38	chr11	114530269	.	G	C	4554.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.51;DP=950;ExcessHet=0.3672;FS=2.216;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=0.975;SOR=0.828	GT:AD:DP:GQ:PL	0/1:82,68:150:99:1738,0,2066	16	0	3	0
chr11	116821597	116821597	C	T	exonic	APOA4	.	nonsynonymous SNV	APOA4:NM_000482:exon3:c.G461A:p.R154Q	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.026534463517	.	.	1.669e-05	0	0	0.0001	0	1.518e-05	0	0	1.94e-05	3	154602	rs746344058	4.185e-05	4.242e-05	4.915e-05	3.448e-05	5.043e-05	3.32e-05	3.01e-05	3.721e-05	3.375e-05	2.991e-05	2.241e-05	0	5.043e-05	0	0	4.771e-05	4.974e-05	1.161e-05	3.938e-05	3.937e-05	5.138e-05	2.685e-05	0.0002	1.714e-05	1.128e-05	7.97e-06	2.98e-06	4.81e-05	0	6.532e-05	0	0.0002	0	0	2.94e-05	0	0	0.509	0.07521	T	0.996	0.02331	T	.	.	.	.	.	.	0.361440	0.13664	N	0.665350	0.999963	0.18878	N	.	.	.	-0.75	0.73311	T	-0.69	0.19720	N	0.232	0.26111	-0.8868	0.49206	T	0.148	0.47362	T	10	0.079954326	0.12923	T	0.026534	0.49438	D	0.132	0.35948	0.515	0.61459	0.258283824007	0.25425	0.35954839324665167	0.35868	0.0778197317161	0.08756	0.21843226254	0.01221	T	.	.	.	-0.273548	0.11365	T	-0.461581	0.26427	T	0.0868580515460345	0.10842	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04806	B	.	.	1.467404	0.18910	13.99	0.98820549956325887	0.46769	0.03433	0.08568	N	AEFDBI	0.159356	0.28514	N	-0.93395827874724	0.10055	0.4787141	-0.990160072736427	0.10005	0.5012239	0.990753744425325	0.32258	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.49	-1.67	0.07798	0.293000	0.18785	-0.053000	0.12521	-0.182000	0.10109	0.077000	0.22263	0.001000	0.17328	0.637000	0.32341	0.0:0.6024:0.0:0.3976	10.066	0.41479	492	0.76569	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	3653.33	204	chr11	116821597	.	C	T	3653.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.07;DP=2117;ExcessHet=0;FS=0.968;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-1.861;SOR=0.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,120:253:99:0|1:116821597_C_T:3667,0,3400:116821597	18	0	1	0
chr11	117822435	117822435	G	T	exonic	FXYD2;FXYD6-FXYD2	.	nonsynonymous SNV	FXYD2:NM_001680:exon3:c.C110A:p.A37D,FXYD2:NM_021603:exon3:c.C104A:p.A35D,FXYD6-FXYD2:NM_001204268:exon8:c.C344A:p.A115D	.	0	1519	3	0	0	3	0.000986518	.	.	.	752445	FXYD2-related_disorder|not_provided|Renal_hypomagnesemia_2|not_specified|Inborn_genetic_diseases	.|MedGen:C3661900|MONDO:MONDO:0007937,MedGen:C1835171,OMIM:154020,Orphanet:34528|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.438	0.219841578017	0.0006	0.000199681	0.0011	0.0003	0	0	0	0.0013	0	0.0012	0.0004722	73	154602	rs138991613	0.0007	0.0007	0.0007	0.0007	0.0008	0.0007	0.0007	0.0007	0.0007	0.0002	0.0006	0.0010	0	0.0003	0.0004	0.0008	0.0006	0.0008	0.0006	0.0006	0.0005	0.0006	0.0010	0.0005	0.0004	0.0007	0.0006	0.0002	0.0011	0.0002	0.0017	0	0.0002	0.0034	0.0008	0.0009	0.0010	0.037	0.51853	D	0.012	0.65728	D	1.0	0.90584	D	0.998	0.92359	D	0.024300	0.01609	N	2.277430	1	0.81001	D	.	.	.	-0.25	0.67011	T	-3.95	0.73477	D	0.919	0.92200	-0.5611	0.66362	T	0.542	0.83108	D	9	0.3850584	0.54478	T	0.219842	0.87727	D	0.438	0.74235	.	.	0.440540251273	0.43675	0.4263400862171417	0.72676	0.759666535503	0.64183	.	.	.	0.586428	0.86536	D	-0.0309012	0.47287	T	0.152757	0.80358	D	0.134326021029194	0.15776	T	0.817418	0.48291	T	0.5663145	0.70857	0.6389598	0.78912	0.5663145	0.70859	0.6389598	0.78913	-16.627	0.98558	D	0.2749653974319409	0.36928	0.997	0.96661	P	.;.;.;.;.	.;.;.;.;.	5.509133	0.91667	32	0.99753171456923362	0.84460	0.75802	0.37133	D	AEFGBHCI	0.802073	0.72760	D	0.64783777160357	0.76230	6.448015	0.627119779200439	0.76916	6.580068	0.999999992441235	0.74766	0.656854	0.48797	0	0.69481	0.67340	0	0.491614	0.08109	1	0.638833	0.57524	0	.	.	5.11	5.11	0.69188	6.023000	0.70499	11.385000	0.92635	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	14.389	0.66532	835	0.38313	.;.;.;.;.	.	.	.	.	.	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	0.000508	0.000000	0.000000	0.002959	0.000000	0.000000	0.003106	0.000000	0.02632	1599.33	36	chr11	117822435	.	G	T	1599.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.171;DP=756;ExcessHet=0;FS=1.37;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.657;SOR=0.848	GT:AD:DP:GQ:PL	0/1:75,62:137:99:1613,0,1997	18	0	1	0
chr11	118379540	118379540	A	G	exonic	UBE4A	.	nonsynonymous SNV	UBE4A:NM_001204077:exon11:c.A1666G:p.N556D,UBE4A:NM_004788:exon11:c.A1687G:p.N563D	.	.	.	.	.	.	.	.	.	.	.	2368772	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.093	0.0106146138548	.	.	8.238e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs782354863	6.362e-05	6.362e-05	5.853e-05	6.875e-05	0.0002	5.294e-05	4.911e-05	5.972e-05	5.461e-05	2.987e-05	0	0	0	0	0.0002	7.284e-05	4.967e-05	8.115e-05	3.284e-05	3.283e-05	2.569e-05	4.034e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0.0002	0.579	0.07211	T	0.634	0.07105	T	0.042	0.24078	B	0.037	0.25678	B	0.001873	0.37789	N	0.344071	0.940595	0.37303	D	1.5	0.37844	L	0.96	0.42888	T	-1.03	0.28290	N	0.209	0.27197	-1.0288	0.20843	T	0.087	0.33774	T	10	0.12048197	0.22821	T	0.010615	0.27345	T	0.093	0.26882	0.56	0.67958	0.305252298933	0.30134	0.2102756401995555	0.20943	0.405331388554	0.41430	0.414917230606	0.27136	T	0.069081	0.33621	T	-0.363107	0.03958	T	-0.651698	0.08835	T	0.166937752099871	0.18369	T	0.89491	0.63503	D	0.1159834	0.27363	0.12030401	0.29033	0.1159834	0.27363	0.12030401	0.29032	-5.545	0.42287	T	.	.	0.126	0.33846	B	.;.;.	.;.;.	3.046586	0.40863	21.2	0.99117773562612965	0.52906	0.83969	0.43058	D	AEFDBHCI	0.237477	0.35976	N	-0.107260795081653	0.37075	2.151919	0.0887917169802453	0.43983	2.688965	0.986080985608687	0.31001	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	3.982000	0.56618	11.172000	0.88004	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.867000	0.41218	1.0:0.0:0.0:0.0	15.661	0.76941	121	0.95159	Ubiquitin conjugation factor E4, core;.;Ubiquitin conjugation factor E4, core	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1608.33	33	chr11	118379540	.	A	G	1608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.705;DP=773;ExcessHet=0;FS=2.135;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-2.299;SOR=0.696	GT:AD:DP:GQ:PL	0/1:74,65:139:99:1622,0,2037	18	0	1	0
chr11	119116025	119116025	C	G	exonic	C2CD2L	.	nonsynonymous SNV	C2CD2L:NM_001382612:exon14:c.C1913G:p.A638G	.	.	.	.	.	.	.	.	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0120375693004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0012	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0	0.0001	2.534e-05	0	0	0.0003	0.0003	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	60.42	91	chr11	119116025	.	C	G	60.42	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-3.804;DP=1250;ExcessHet=0.3672;FS=100.253;InbreedingCoeff=-0.147;MLEAC=3;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=0.095;SOR=9.779	GT:AD:DP:GQ:PL	0/1:44,24:68:60:60,0,1126	12	0	3	4
chr11	119206563	119206563	G	A	exonic	CBL	.	nonsynonymous SNV	CBL:NM_005188:exon1:c.G146A:p.G49E	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	4119157	Cardiovascular_phenotype	MedGen:CN230736	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.331	0.846140757678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.155e-07	6.84e-07	0	1.451e-06	9.27e-07	0	0	.	.	0	0	0	0	0	0	9.27e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.121	0.36365	T	0.684	0.41517	P	0.605	0.50945	P	0.000051	0.53742	U	0.072627	0.999903	0.50806	D	0.345	0.11182	N	-1.05	0.76690	T	-0.69	0.19720	N	0.515	0.59986	-0.4593	0.70091	T	0.336	0.70297	T	10	0.37293732	0.53615	T	0.846141	0.98812	D	0.331	0.65325	0.394	0.41935	0.916992829997	0.91615	0.44952908983680306	0.44870	1.90210659146	0.92831	0.860991120338	0.91257	D	0.518483	0.83116	D	0.0985358	0.64134	D	-0.0962366	0.63688	T	0.842578828334808	0.49539	D	0.879712	0.59601	D	0.5077878	0.67551	0.4745506	0.69547	0.5077878	0.67552	0.4745506	0.69548	-6.138	0.47420	T	0.3643376849708671	0.46047	0.774	0.76112	P	.;.;.;.	.;.;.;.	4.687205	0.75076	26.3	0.87182149119692964	0.17046	0.59226	0.30857	D	AEFDGBHCI	0.502684	0.53499	D	-0.19451285963135	0.33361	1.891904	-0.270196418784741	0.29085	1.626753	0.999999999999995	0.74766	0.242642	0.04205	2	0.484254	0.07192	0	0.47417	0.07244	0	0.581474	0.35302	0	.	.	2.95	2.95	0.33285	4.879000	0.62792	10.771000	0.83720	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	12.931	0.57682	350	0.85473	Adaptor protein Cbl, PTB domain;Adaptor protein Cbl, PTB domain;Adaptor protein Cbl, PTB domain;Adaptor protein Cbl, PTB 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	.	.	.	.	.	.	.	.	0.02632	1431.33	44	chr11	119206563	.	G	A	1431.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.163;DP=768;ExcessHet=0;FS=1.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.161;SOR=0.504	GT:AD:DP:GQ:PL	0/1:50,59:109:99:1445,0,1239	18	0	1	0
chr11	122934723	122934723	A	G	exonic	JHY	.	nonsynonymous SNV	JHY:NM_001363088:exon4:c.A1168G:p.R390G,JHY:NM_001363087:exon5:c.A1282G:p.R428G,JHY:NM_001363089:exon5:c.A1282G:p.R428G,JHY:NM_024806:exon5:c.A1282G:p.R428G	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00660665877842	0.0002	0.00119808	0.0005	0	0.0003	0	0.0003	0.0005	0.0022	0.0008	0.0004334	67	154602	rs147942957	0.0006	0.0006	0.0006	0.0005	0.0029	0.0005	0.0005	0.0019	0.0015	0.0001	0.0008	0.0002	0	0.0002	0.0029	0.0006	0.0011	0.0007	0.0008	0.0008	0.0008	0.0007	0.0031	0.0006	0.0006	0.0024	0.0021	0.0002	0	0.0031	0	0.0002	0.0002	0.0034	0.0008	0.0024	0.0002	0.07	0.35349	T	0.265	0.22694	T	0.0	0.02946	B	0.001	0.04355	B	0.199687	0.16632	N	0.603346	1	0.08975	N	.	.	.	0.92	0.44461	T	-0.54	0.16598	N	0.044	0.01658	-1.0435	0.16265	T	0.055	0.23262	T	10	0.0059680045	0.00134	T	0.006607	0.17444	T	0.017	0.02790	.	.	0.258779203287	0.25495	0.10641739019452219	0.10571	0.136142029518	0.15352	.	.	.	0.061165	0.31583	T	-0.635116	0.00089	T	-0.741424	0.03831	T	0.0157627614083712	0.00366	T	0.480052	0.14488	T	0.09267533	0.21746	0.10441056	0.25077	0.09267533	0.21746	0.10441056	0.25076	-3.362	0.14550	T	.	.	0.072	0.04198	B	.;.	.;.	-0.026513	0.04101	0.967	0.42305550583805468	0.03109	0.04888	0.10633	N	AEFDGBI	0.063773	0.12344	N	-0.902246576859752	0.10789	0.5173455	-0.924995130876081	0.11505	0.586516	7.60761001651767E-5	0.04552	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.46	1.84	0.24348	0.062000	0.14264	0.703000	0.20862	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.069000	0.16583	0.7374:0.0:0.2626:0.0	7.145	0.24754	720	0.55521	.;.	.	.	.	.	.	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	0.005035	0.000000	0.004076	0.002924	0.000000	0.008621	0.003049	0.011364	0.02632	2212.33	33	chr11	122934723	.	A	G	2212.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.577;DP=775;ExcessHet=0;FS=1.253;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.907;SOR=0.802	GT:AD:DP:GQ:PL	0/1:77,82:159:99:2226,0,2059	18	0	1	0
chr11	124876026	124876026	C	T	exonic	ROBO3	.	nonsynonymous SNV	ROBO3:NM_022370:exon16:c.C2494T:p.L832F	Gaze palsy, horizontal, with progressive scoliosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0732329524063	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1227108770	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.28148	T	0.075	0.43159	T	0.003	0.11197	B	0.021	0.19346	B	0.046899	0.23395	N	0.213470	0.805523	0.29063	N	2.515	0.73286	M	0.16	0.60610	T	-1.68	0.40082	N	0.306	0.34552	-0.8148	0.54257	T	0.190	0.54138	T	10	0.30091673	0.47637	T	0.073233	0.71736	D	0.137	0.36984	0.667	0.80502	0.674474796302	0.67171	0.5442881839043433	0.54354	0.104148278911	0.11784	0.555914819241	0.46690	T	0.222507	0.58638	T	-0.136008	0.30528	T	-0.433142	0.29580	T	0.209595143795013	0.20932	T	0.518348	0.16810	T	0.19078591	0.40678	0.10549066	0.25360	0.19078591	0.40678	0.10549066	0.25359	-6.236	0.48213	T	.	.	0.378	0.61171	A	.;.	.;.	2.305360	0.29507	18.14	0.95124592276894282	0.26227	0.85006	0.44106	D	AEFDGBHCI	0.325022	0.42673	N	-0.302551531754495	0.29052	1.607638	-0.26519157206288	0.29253	1.637469	0.99999999874355	0.74766	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	5.07	4.14	0.47821	1.213000	0.32011	.	.	0.599000	0.40250	0.999000	0.42656	0.997000	0.33255	0.500000	0.29017	0.1641:0.7491:0.0:0.0868	7.530	0.26845	712	0.56465	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	61.33	33	chr11	124876026	.	C	T	61.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.634;DP=739;ExcessHet=0;FS=57.119;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.68;ReadPosRankSum=-2.064;SOR=5.668	GT:AD:DP:GQ:PL	0/1:74,16:90:75:75,0,2074	18	0	1	0
chr11	124880557	124880557	T	0	exonic	ROBO3	.	.	.	Gaze palsy, horizontal, with progressive scoliosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	617.37	33	chr11	124880557	.	T	*	617.37	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0.477;DP=833;ExcessHet=0.5777;FS=0.528;InbreedingCoeff=0.1044;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=-1.898;SOR=0.749	GT:AD:DP:GQ:PL	0/1:21,16:37:99:583,0,834	11	2	6	0
chr11	132330173	132330173	A	C	exonic	NTM	.	nonsynonymous SNV	NTM:NM_001144058:exon7:c.A955C:p.T319P,NTM:NM_001352002:exon8:c.A991C:p.T331P,NTM:NM_001352005:exon8:c.A955C:p.T319P,NTM:NM_001352001:exon9:c.A991C:p.T331P,NTM:NM_001352006:exon9:c.A928C:p.T310P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00576452012183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.27663	T	0.208	0.26883	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.81001	D	.	.	.	0.15	0.60734	T	-0.54	0.16598	N	0.136	0.13341	-1.0267	0.21527	T	0.060	0.25054	T	9	0.20055953	0.36107	T	0.005765	0.14952	T	0.083	0.24192	0.467	0.53891	0.447408163157	0.44359	0.6034036130732616	0.60271	0.491365883258	0.47828	0.379869699478	0.22239	T	0.008132	0.07480	T	-0.146036	0.28934	T	-0.447547	0.27969	T	0.315370676790793	0.25633	T	0.356864	0.11694	T	.	.	.	.	.	.	.	.	-1.282	0.01373	T	.	.	0.095	0.20078	B	.;.	.;.	2.528956	0.32697	19.12	0.98241654416958801	0.39485	0.70237	0.34508	D	AEFDBI	0.324939	0.42667	N	-0.215713260395055	0.32488	1.832774	-0.145392601783577	0.33585	1.922749	0.0310491261866103	0.13980	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.53	0.123	0.14012	2.181000	0.42176	6.497000	0.55774	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.4309:0.5691:0.0:0.0	14.226	0.65405	871	0.31377	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1040.33	35	chr11	132330173	.	A	C	1040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=684;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.34;ReadPosRankSum=1.44;SOR=0.673	GT:AD:DP:GQ:PL	0/1:23,37:60:99:1054,0,536	18	0	1	0
chr12	1799683	1799683	A	G	exonic	CACNA2D4	.	nonsynonymous SNV	CACNA2D4:NM_172364:exon34:c.T2987C:p.F996S	Retinal cone dystrophy 4, Autosomal recessive	0	1498	23	1	0	25	0.00827541	.	.	.	102429	not_provided|not_specified|Retinal_cone_dystrophy_4	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012507,MedGen:C1864849,OMIM:610478,Orphanet:1872	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.182	.	0.0047	0.00319489	0.0086	0.0022	0.0111	0	0.0071	0.0148	0.0039	0.0010	0.0040103	620	154602	rs55971855	0.0071	0.0070	0.0072	0.0070	0.0159	0.0070	0.0069	0.0132	0.0123	0.0014	0.0043	0.0164	2.693e-05	0.0023	0.0159	0.0080	0.0077	0.0012	0.0051	0.0052	0.0056	0.0047	0.0079	0.0048	0.0047	0.0073	0.0071	0.0016	0.0099	0.0070	0.0104	0	0.0013	0.0068	0.0079	0.0043	0.0012	0.393	0.43085	T	0.041	0.51421	D	0.932	0.51990	P	0.454	0.46241	P	0.056727	0.22536	N	0.413288	0.96892	0.38693	D	1.905	0.50856	L	0.68	0.51952	T	-1.69	0.40274	N	0.488	0.53708	-0.9739	0.36366	T	0.093	0.35444	T	10	0.00739339	0.00168	T	.	.	.	0.182	0.45420	.	.	0.328222422547	0.32431	0.5544732547644405	0.55374	0.256247635266	0.28199	0.623978853226	0.56291	T	0.039004	0.25040	T	-0.282785	0.10376	T	-0.169582	0.57480	T	0.0163467810838932	0.00404	T	.	.	.	0.20095675	0.42089	0.2381343	0.49128	0.19285451	0.40971	0.2241726	0.47319	-0.975	0.01026	T	.	.	0.388	0.63162	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.692406	0.75201	26.3	0.9838928252101633	0.40936	0.93528	0.58462	D	AEFGBI	0.788805	0.71818	D	-0.0498503328821455	0.39610	2.338573	-0.027881822667088	0.38460	2.266273	0.99993265390054	0.46732	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.08	4.08	0.46880	6.215000	0.72150	10.955000	0.84425	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.774000	0.36673	1.0:0.0:0.0:0.0	12.063	0.52870	818	0.41518	Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region;Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region;Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region;.;Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region;.;.	.	.	.	.	.	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	0.012601	0.005051	0.024457	0.002924	0.000000	0.017241	0.006135	0.000000	0.05263	2155.83	40	chr12	1799683	.	A	G	2155.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.267;DP=775;ExcessHet=0.119;FS=1.143;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=1.24;SOR=0.812	GT:AD:DP:GQ:PL	0/1:45,41:86:99:1101,0,1201	17	0	2	0
chr12	1831277	1831277	G	A	exonic	LRTM2	.	nonsynonymous SNV	LRTM2:NM_001039029:exon4:c.G410A:p.R137Q,LRTM2:NM_001163925:exon4:c.G410A:p.R137Q,LRTM2:NM_001163926:exon4:c.G410A:p.R137Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0080929447482	0.0002	0.000599042	0.0003	0	0	0	0	3.005e-05	0	0.0018	0.0002199	34	154602	rs145662837	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0014	0.0014	8.961e-05	2.236e-05	0	2.519e-05	0	0.0003	0.0001	0.0004	0.0017	0.0001	0.0001	7.708e-05	0.0001	0.0021	7.086e-05	5.743e-05	0.0011	0.0009	2.406e-05	0	0	0	0	0	0.0034	7.349e-05	0	0.0021	0.371	0.11514	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.023511	0.26429	N	0.456652	1	0.81001	D	0.455	0.12820	N	0.48	0.55945	T	1.15	0.01151	N	0.068	0.04072	-1.0389	0.17648	T	0.084	0.32729	T	10	0.0056796074	0.00126	T	0.008093	0.21444	T	0.051	0.14325	.	.	0.465138348474	0.46142	0.20276272840878753	0.20193	0.349840162037	0.36829	0.295310497284	0.09703	T	0.011419	0.10189	T	-0.568115	0.00227	T	-0.602065	0.12638	T	0.0158198531620855	0.00370	T	.	.	.	0.028623197	0.02227	0.040216383	0.04296	0.028623197	0.02227	0.040216383	0.04295	-4.33	0.28596	T	.	.	0.060	0.01026	B	.;.;.	.;.;.	0.903142	0.12774	9.289	0.85154934865563736	0.15719	0.04996	0.10770	N	ALL	0.120950	0.23537	N	-0.760607776504212	0.14346	0.713907	-0.640625283810686	0.18453	0.9858732	0.999999994565892	0.74766	0.623204	0.39778	0	0.616487	0.53143	0	0.378051	0.06126	2	0.341033	0.05752	3	.	.	5.25	0.382	0.15457	2.037000	0.40795	1.908000	0.29627	-0.116000	0.14526	0.998000	0.41325	1.000000	0.68203	0.074000	0.16894	0.6734:0.0:0.3266:0.0	8.536	0.32525	803	0.44167	.;.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1716.33	34	chr12	1831277	.	G	A	1716.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=1.08;SOR=0.712	GT:AD:DP:GQ:PL	0/1:55,60:115:99:1730,0,1463	18	0	1	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N,DYRK4:NM_001371301:exon5:c.G426C:p.K142N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3684	3193.35	94	chr12	4591261	.	G	C	3193.35	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.805;DP=1547;ExcessHet=17.0548;FS=274.024;InbreedingCoeff=-0.5842;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=2.94;ReadPosRankSum=1.24;SOR=12.301	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,20:76:99:.:.:152,0,829:.	5	0	14	0
chr12	11353720	11353720	-	TGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon5:c.1368_1369insAACCTCAGGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCCAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACA:p.D457delinsNLRVPHLQESHKDHPHKETSPKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATD	.	540	935	7	29	11	76	0.0335917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.0088	0.0081	0.0089	0.0159	0.0083	0.0083	0.0146	0.0141	0.0033	0.0083	0.0191	0.0159	0.0281	0.0146	0.0072	0.0123	0.0121	0.0005	0.0008	0.0005	0.0005	0.0004	0.0003	0.0002	0.0001	8.372e-05	0	0	0	0.0033	0	0.0067	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	22281.8	162	chr12	11353720	.	C	CTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	22281.8	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.9;DP=5175;ExcessHet=0.0003;FS=2.74;InbreedingCoeff=0.226;MLEAC=11;MLEAF=0.55;MQ=48.16;MQRankSum=-0.585;QD=23.73;ReadPosRankSum=-3.175;SOR=0.801	GT:AD:DP:GQ:PL	0/1:119,77:196:22:2716,0,22	5	3	2	9
chr12	25225763	25225763	T	C	exonic	KRAS	.	nonsynonymous SNV	KRAS:NM_001369786:exon4:c.A301G:p.K101E,KRAS:NM_001369787:exon4:c.A301G:p.K101E,KRAS:NM_004985:exon4:c.A301G:p.K101E,KRAS:NM_033360:exon4:c.A301G:p.K101E	Bladder cancer, somatic;Breast cancer, somatic;Cardiofaciocutaneous syndrome 2;Gastric cancer, somatic;Leukemia, acute myeloid, Autosomal dominant;Lung cancer, somatic;Noonan syndrome 3;Pancreatic carcinoma, somatic;RAS-associated autoimmune leukoproliferative disorder, Autosomal dominant;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.0754973201996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.23631	T	0.111	0.38305	T	0.54	0.37905	P	0.137	0.37572	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.76	0.19266	N	-1.31	0.79666	T	-2.54	0.55025	D	0.644	0.67132	-0.3731	0.72866	T	0.350	0.71439	T	10	0.5899423	0.66323	D	0.075497	0.72303	D	0.556	0.81717	0.512	0.61000	0.907845444153	0.90692	0.8113489601340396	0.81089	1.96399734804	0.93493	0.882835268974	0.94340	D	0.638353	0.88878	D	0.331299	0.85247	D	0.238112	0.85054	D	0.712783575057983	0.41337	D	0.723828	0.33737	T	0.8624753	0.88275	0.68976367	0.81747	0.8624753	0.88276	0.68976367	0.81748	-13.567	0.91564	D	0.1319803197821904	0.14031	0.699	0.72914	P	.;.	.;.	5.017279	0.83359	28.0	0.98568970174130621	0.43076	0.99518	0.96986	D	AEBI	0.880948	0.80796	D	0.247946109041749	0.53537	3.522182	0.405424374172973	0.61901	4.397013	0.999999626134381	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.631631	0.49550	0	.	.	5.67	5.67	0.87673	8.004000	0.88060	7.889000	0.72943	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.388	0.74437	861	0.33516	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	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1051.33	33	chr12	25225763	.	T	C	1051.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.312;DP=694;ExcessHet=0;FS=3.141;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-1.247;SOR=0.385	GT:AD:DP:GQ:PL	0/1:40,41:81:99:1065,0,1079	18	0	1	0
chr12	31662268	31662268	G	A	splicing	ETFBKMT	NM_001135864:exon2:c.314+1G>A;NM_173802:exon2:c.314+1G>A;NM_001135863:exon2:c.314+1G>A	.	.	.	430	1076	16	0	0	16	0.00738007	1.0000	0.938	.	2806838	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0036	0.00299521	0.0039	0.0006	0.0042	0	0.0109	0.0040	0.0056	0.0041	0.0037645	582	154602	rs138229541	0.0046	0.0046	0.0045	0.0046	0.0118	0.0045	0.0044	0.0096	0.0087	0.0009	0.0051	0.0009	0	0.0090	0.0118	0.0047	0.0042	0.0042	0.0039	0.0039	0.0038	0.0040	0.0058	0.0036	0.0035	0.0048	0.0044	0.0010	0	0.0058	0.0003	0	0.0102	0.0170	0.0047	0.0071	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0376589	0.56737	T	0.285323	0.87407	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.462280	0.91180	32	0.99512601099398945	0.68739	0.98234	0.80784	D	AEFDBHI	.	.	.	1.06525046212874	0.97435	16.12388	0.866655777243244	0.93950	12.396	0.999999999999974	0.74766	0.093781	0.02453	0	0.089529	0.02469	0	0.060301	0.00762	0	0.089874	0.02613	0	0.984515	0.91773	4.4	4.4	0.52402	9.020000	0.93181	9.487000	0.80890	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.800000	0.37734	0.0:0.0:1.0:0.0	17.168	0.86700	911	0.21964	.;.;.;.;.	.	.	.	.	.	Likely benign	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	1	0	.	.	.	.	.	.	.	.	0.05263	3032.83	35	chr12	31662268	.	G	A	3032.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.967;DP=903;ExcessHet=0.119;FS=0.949;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=0.142;SOR=0.614	GT:AD:DP:GQ:PL	0/1:85,64:149:99:1681,0,2285	17	0	2	0
chr12	32625729	32625729	C	A	exonic	FGD4	.	nonsynonymous SNV	FGD4:NM_001370297:exon12:c.C1159A:p.P387T,FGD4:NM_001330373:exon13:c.C1432A:p.P478T,FGD4:NM_001330374:exon13:c.C1432A:p.P478T,FGD4:NM_001384130:exon13:c.C1432A:p.P478T,FGD4:NM_001304480:exon14:c.C2047A:p.P683T,FGD4:NM_001304481:exon14:c.C1966A:p.P656T,FGD4:NM_001370298:exon14:c.C2122A:p.P708T,FGD4:NM_001384126:exon14:c.C2122A:p.P708T,FGD4:NM_001384127:exon14:c.C1711A:p.P571T,FGD4:NM_001384128:exon14:c.C1711A:p.P571T,FGD4:NM_001385118:exon14:c.C1711A:p.P571T,FGD4:NM_139241:exon14:c.C1711A:p.P571T,FGD4:NM_001304483:exon15:c.C967A:p.P323T,FGD4:NM_001304484:exon15:c.C679A:p.P227T	Charcot-Marie-Tooth disease, type 4H, Autosomal recessive	1	1511	8	2	0	12	0.00395517	.	.	.	186164	FGD4-related_disorder|not_specified|not_provided|Inborn_genetic_diseases|Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease_type_4|Charcot-Marie-Tooth_disease_type_4H	.|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311,Orphanet:99954	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.122	0.014035912536	0.0041	0.00139776	0.0040	0.0012	0.0020	0	0.0027	0.0062	0.0033	0.0009	0.0040232	622	154602	rs144693221	0.0051	0.0051	0.0052	0.0050	0.0062	0.0050	0.0050	0.0061	0.0060	0.0010	0.0014	0.0015	7.559e-05	0.0028	0.0042	0.0062	0.0034	0.0008	0.0028	0.0028	0.0030	0.0026	0.0046	0.0026	0.0025	0.0042	0.0040	0.0014	0	0.0012	0.0026	0	0.0016	0	0.0046	0.0033	0.0004	0.283	0.15354	T	0.345	0.18959	T	0.003	0.20732	B	0.043	0.28327	B	0.104671	0.19692	N	0.428769	1	0.08975	N	1.34	0.33385	L	-0.59	0.71543	T	-4.03	0.77143	D	0.252	0.35514	-0.8085	0.54641	T	0.164	0.50144	T	10	0.009981662	0.00224	T	0.014036	0.33885	T	0.122	0.33800	.	.	0.567207890759	0.56385	0.4643983229854567	0.46358	0.444578749256	0.44359	0.470297664404	0.34721	T	0.022505	0.23758	T	-0.48497	0.00693	T	-0.466095	0.25938	T	0.0350589171078559	0.02819	T	0.90391	0.66280	D	0.12080793	0.28419	0.16740566	0.38623	0.14093754	0.32495	0.2012028	0.44088	-8.614	0.65182	D	.	.	0.071	0.09530	B	.;.;.;.;.	.;.;.;.;.	-0.532723	0.01765	0.134	0.66456374004148955	0.08064	0.12910	0.17553	N	AEFBI	0.135435	0.25577	N	-1.46966013452416	0.02067	0.09087791	-1.60739703899217	0.01611	0.0730821	0.999650402584824	0.41424	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.29	-10.6	0.00212	-1.376000	0.02667	-4.630000	0.02060	-0.916000	0.02226	0.000000	0.06391	0.000000	0.08366	0.916000	0.45140	0.0:0.6863:0.0978:0.2159	15.920	0.79339	906	0.23090	FYVE zinc finger|Zinc finger, FYVE-related|FYVE zinc finger;FYVE zinc finger|Zinc finger, FYVE-related|FYVE zinc finger;FYVE zinc finger|Zinc finger, FYVE-related|FYVE zinc finger;FYVE zinc finger|Zinc finger, FYVE-related|FYVE zinc finger;FYVE zinc finger|Zinc finger, FYVE-related|FYVE zinc finger	.	.	.	.	.	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	1	0	.	.	.	.	.	.	.	.	0.02632	1244.33	46	chr12	32625729	.	C	A	1244.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=844;ExcessHet=0;FS=4.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.347;SOR=1.108	GT:AD:DP:GQ:PL	0/1:69,49:118:99:1258,0,1713	18	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	3192.41	61	chr12	39764776	.	G	C	3192.41	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.323;DP=1223;ExcessHet=28.6262;FS=348.508;InbreedingCoeff=-0.7653;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.27;ReadPosRankSum=0.863;SOR=12.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,32:66:99:.:.:188,0,479:.	2	0	16	1
chr12	40416068	40416068	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs765159718	0.0004	0.0003	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0002	3.539e-05	6.283e-05	0	0.0004	0.0002	0.0005	0.0004	5.255e-05	0.0003	0.0003	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	9.664e-05	0	0.0001	0	0	0.0007	0	0.0006	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	.	.	.	.	.	.	.	.	0.02632	2059.33	34	chr12	40416068	.	G	A	2059.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.901;DP=998;ExcessHet=0;FS=1.819;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-0.699;SOR=0.743	GT:AD:DP:GQ:PL	0/1:103,82:185:99:2073,0,2894	18	0	1	0
chr12	40450267	40450267	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	446	1073	3	0	0	3	0.001396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0174310637657	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs904639240	5.213e-05	4.31e-05	3.921e-05	6.556e-05	0.0005	4.121e-05	3.708e-05	8.045e-05	3.526e-05	0	3.554e-05	0	0	0	0.0005	5.107e-05	0.0001	5.259e-05	3.289e-05	3.284e-05	3.857e-05	2.694e-05	0.0002	1.262e-05	7.99e-06	1.974e-05	1.126e-05	0	0	0	0	0	0	0	5.888e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1277.33	42	chr12	40450267	.	C	G	1277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.756;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-0.564;SOR=0.668	GT:AD:DP:GQ:PL	0/1:38,52:90:99:1291,0,935	18	0	1	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	55498.9	1319	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	55498.9	.	AC=11;AF=0.289;AN=38;BaseQRankSum=1.81;DP=21295;ExcessHet=25.4433;FS=1.658;InbreedingCoeff=-0.7273;MLEAC=11;MLEAF=0.289;MQ=56.74;MQRankSum=-28.9;QD=5.62;ReadPosRankSum=-0.745;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:857,42:950:99:.:.:6001,0,35322:.	8	0	11	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	47426.9	1213	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	47426.9	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.612;DP=20984;ExcessHet=20.8569;FS=1.658;InbreedingCoeff=-0.6522;MLEAC=8;MLEAF=0.211;MQ=56.57;MQRankSum=-27.39;QD=4.75;ReadPosRankSum=-2.14;SOR=1.414	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:842,42:932:99:.:.:6169,0,33914:.	11	0	8	0
chr12	40488965	40488965	-	TAACTGGACTATCAGCTGTGCTGACAAGGACAACTGGGCCATCGGCTGTGGTGACAGAGACAACTGGACCAACTGGGGTGACAAGAATAACTGGACTATCAGCTGGAG	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.35e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	1881.19	827	chr12	40488965	.	A	ATAACTGGACTATCAGCTGTGCTGACAAGGACAACTGGGCCATCGGCTGTGGTGACAGAGACAACTGGACCAACTGGGGTGACAAGAATAACTGGACTATCAGCTGGAG	1881.19	.	AC=1;AF=0.036;AN=28;BaseQRankSum=2.8;DP=11234;ExcessHet=0.119;FS=13.344;InbreedingCoeff=-0.1343;MLEAC=1;MLEAF=0.036;MQ=57.64;MQRankSum=-18.94;QD=1.38;ReadPosRankSum=-7.253;SOR=1.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:482,57:539:99:.:.:953,0,19477:.	13	0	1	5
chr12	40511000	40511000	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	543	846	132	1	0	134	0.0733844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334958236	0	2.394e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.398e-05	0.0059	1.325e-05	5.579e-05	0.0002	1.294e-05	8.22e-06	.	.	2.479e-05	0	6.864e-05	0	0	9.885e-05	0	0	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	88.84	50	chr12	40511000	.	A	G	88.84	.	AC=2;AF=0.053;AN=38;BaseQRankSum=5.92;DP=2381;ExcessHet=0.119;FS=27.176;InbreedingCoeff=-0.0554;MLEAC=2;MLEAF=0.053;MQ=58.89;MQRankSum=-14.68;QD=0.22;ReadPosRankSum=-3.215;SOR=4.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:202,15:217:22:0|1:40510979_A_G:22,0,8376:40510979	17	0	2	0
chr12	40534711	40534711	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	444	1047	30	1	0	32	0.0150517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0076	0	0.0050	0	0	0.0041	0.0069	0.0170	0.0008797	136	154602	rs200624352	0.0014	0.0015	0.0013	0.0015	0.0183	0.0013	0.0013	0.0153	0.0141	0.0002	0.0015	0.0038	0	9.606e-05	0.0183	0.0011	0.0024	0.0069	0.0012	0.0012	0.0011	0.0013	0.0056	0.0011	0.0010	0.0039	0.0034	0.0003	0	0.0018	0.0058	0.0002	0	0.0181	0.0012	0.0040	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	1567.83	50	chr12	40534711	.	G	A	1567.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.66;DP=794;ExcessHet=0.119;FS=10.147;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.741;SOR=1.498	GT:AD:DP:GQ:PL	0/1:34,36:70:99:975,0,889	17	0	2	0
chr12	50098750	50098750	C	T	exonic	SMARCD1	.	nonsynonymous SNV	SMARCD1:NM_139071:exon11:c.C1306T:p.R436C,SMARCD1:NM_003076:exon12:c.C1429T:p.R477C	.	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	0.201319814301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	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	3.005	0.85968	M	0.09	0.61443	T	-7.25	0.94484	D	0.779	0.77978	0.286	0.87338	D	0.536	0.82859	D	10	0.83273304	0.82433	D	0.20132	0.86758	D	0.508	0.78848	0.697	0.83406	0.438345833192	0.43453	0.9058589224171041	0.90558	2.54765427674	0.97855	0.87457382679	0.93217	D	0.602898	0.87299	D	0.295815	0.82630	D	0.187142	0.82405	D	0.99828690290451	0.93725	D	0.981602	0.93790	D	0.79444623	0.83553	0.7803768	0.87052	0.79444623	0.83555	0.7803768	0.87053	-11.396	0.81785	D	0.9179947366042543	0.96366	0.987	0.92711	P	.;.;.	.;.;.	5.903081	0.94007	33	0.99937019763037305	0.99661	0.98245	0.80885	D	AEFGBCI	0.843626	0.76064	D	0.953782562815975	0.94135	12.52725	0.865958216274889	0.93913	12.36912	0.999999999550296	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.21	5.21	0.72005	5.949000	0.69973	5.959000	0.51789	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.343	0.94341	220	0.91454	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	211.33	34	chr12	50098750	.	C	T	211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.966;DP=718;ExcessHet=0;FS=36.506;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.2;ReadPosRankSum=0.198;SOR=5.435	GT:AD:DP:GQ:PL	0/1:77,19:96:99:225,0,2010	18	0	1	0
chr12	51706661	51706661	G	C	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon11:c.G1581C:p.K527N,SCN8A:NM_001330260:exon11:c.G1581C:p.K527N,SCN8A:NM_001369788:exon11:c.G1581C:p.K527N,SCN8A:NM_014191:exon11:c.G1581C:p.K527N	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0719142025239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	3.968e-05	1.38e-06	1.404e-06	3.092e-05	2.3e-07	9e-08	.	.	3.092e-05	0	0	0	0	0	9.097e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.223	0.33109	T	0.431	0.35606	B	0.315	0.41566	B	0.000179	0.48594	D	0.184301	0.816986	0.28930	N	2.195	0.61839	M	-2.82	0.91192	D	-2.89	0.62747	D	0.442	0.53445	0.033	0.82901	D	0.626	0.86854	D	10	0.24059924	0.41222	T	0.071914	0.71394	D	0.252	0.56159	0.33	0.31519	0.902646408154	0.90167	0.5674523308067984	0.56673	1.41807407564	0.85568	0.605724453926	0.53712	T	0.703665	0.91489	D	-0.0247068	0.48179	T	-0.273266	0.47488	T	0.927446901798248	0.59031	D	0.789921	0.45664	T	0.2993846	0.52850	0.29699904	0.55732	0.2993846	0.52850	0.29699904	0.55732	-3.007	0.12177	T	.	.	0.476	0.68156	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.650273	0.34508	19.65	0.9983572789978995	0.91714	0.18883	0.20441	N	AEFBI	0.095722	0.19336	N	-0.290515847983622	0.29512	1.637351	-0.293922467393298	0.28298	1.576831	0.186781275037378	0.17948	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.41	2.46	0.29032	0.104000	0.15148	1.189000	0.24752	0.676000	0.76740	0.600000	0.27747	1.000000	0.68203	0.996000	0.76049	0.4379:0.0:0.5621:0.0	7.062	0.24310	579	0.69780	Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;.;.;.;.;Voltage-gated Na+ ion channel, cytoplasmic 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	.	.	.	.	.	.	.	.	0.2941	1136.65	43	chr12	51706661	.	G	C	1136.65	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.366;DP=1341;ExcessHet=6.9875;FS=163.767;InbreedingCoeff=-0.4405;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.7;ReadPosRankSum=1.93;SOR=11.652	GT:AD:DP:GQ:PL	0/1:45,26:78:99:315,0,697	7	0	10	2
chr12	52491597	52491597	C	T	exonic	KRT6A	.	nonsynonymous SNV	KRT6A:NM_005554:exon2:c.G680A:p.S227N	Pachyonychia congenita 3	0	1511	11	0	0	11	0.00362677	.	.	.	2706501	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.146	.	.	.	0.0029	0.0002	0.0037	0.0353	0.0003	5.994e-05	0	0.0001	3.84e-05	1	26028	rs200763387	0.0003	0.0086	0.0003	0.0003	0.0198	0.0003	0.0003	0.0183	0.0177	0	0.0008	0	0.0198	0	0	0	0.0001	0.0001	0.0005	0.0088	0.0005	0.0006	0.0188	0.0004	0.0004	0.0151	0.0137	0	0	0.0010	0	0.0188	9.535e-05	0	1.471e-05	0	0.0002	0.216	0.19225	T	0.485	0.11725	T	0.097	0.25541	B	0.036	0.22909	B	0.136905	0.18430	N	0.534254	1	0.08975	N	1.15	0.29295	L	-3.01	0.92208	D	-0.94	0.25118	N	0.143	0.14338	-0.5535	0.66653	T	0.482	0.80225	T	10	0.0068231523	0.00155	T	.	.	.	0.146	0.38789	.	.	0.517724816906	0.51416	0.03803643722075957	0.03749	0.289404301963	0.31353	0.447429031134	0.31593	T	0.332673	0.70261	T	-0.140604	0.29794	T	-0.439744	0.28837	T	0.203941658139229	0.20631	T	0.040496	0.00282	T	0.11607999	0.27383	0.121500604	0.29314	0.11607999	0.27383	0.121500604	0.29313	-6.881	0.53158	T	0.14376647227056955	0.16369	0.127	0.26917	B	.	.	0.957221	0.13337	9.839	0.94018117166021387	0.24123	0.10178	0.15756	N	AEFBCI	0.068389	0.13489	N	-1.03725381542184	0.07840	0.3655751	-1.09421995583413	0.07813	0.3815623	0.999999459557404	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.26	-4.92	0.02848	0.219000	0.17426	.	.	0.573000	0.29008	0.000000	0.06391	0.000000	0.08366	0.704000	0.34264	0.084:0.2949:0.3924:0.2286	4.636	0.11908	759	0.50631	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	872.83	43	chr12	52491597	.	C	T	872.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.598;DP=1331;ExcessHet=0.119;FS=0.822;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.12;MQRankSum=-10.77;QD=1.41;ReadPosRankSum=-3.469;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:318,59:377:99:.:.:767,0,12846:.	17	0	2	0
chr12	53060220	53060220	C	T	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon18:c.C2609T:p.P870L,TNS2:NM_170754:exon18:c.C2579T:p.P860L,TNS2:NM_198316:exon18:c.C2207T:p.P736L	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0853244612735	.	0.000798722	0.0002	0	0.0002	0.0013	0	0	0	0.0012	0.0001682	26	154602	rs117267236	0.0002	0.0002	0.0002	0.0002	0.0041	0.0002	0.0002	0.0036	0.0034	0	9.908e-05	0	0.0041	0	0.0002	3.696e-06	8.628e-05	0.0011	7.223e-05	7.218e-05	6.424e-05	8.059e-05	0.0015	3.969e-05	3.126e-05	0.0008	0.0006	0	0	6.534e-05	0	0.0015	0	0	0	0	0.0004	0.001	0.78490	D	0.302	0.36765	T	0.665	0.46254	P	0.261	0.42166	B	0.073387	0.21350	N	0.424789	0.600081	0.81001	D	.	.	.	-3.43	0.94834	D	-3.43	0.67359	D	0.412	0.69474	0.523	0.90872	D	0.674	0.88718	D	10	0.027695686	0.00911	T	0.085324	0.74508	D	0.246	0.55340	.	.	0.480801007081	0.47709	0.500442132832479	0.49965	0.393819959556	0.40552	0.548230051994	0.45608	T	0.511642	0.82746	D	-0.148418	0.28561	T	-0.0465668	0.67256	D	0.136072736418209	0.15932	T	0.927007	0.73169	D	0.20142607	0.42152	0.29886597	0.55920	0.20142607	0.42152	0.29886597	0.55919	-4.017	0.24057	T	.	.	0.156	0.35247	B	.;.;.;.;.	.;.;.;.;.	3.131644	0.42320	21.5	0.9947257781154849	0.66419	0.59432	0.30914	D	AEFGBCI	0.302068	0.41042	N	-0.121913495104188	0.36439	2.106304	-0.0756597208682512	0.36399	2.117801	0.999993064978766	0.74766	0.722319	0.85440	0	0.514364	0.08380	0	0.696353	0.63694	0	0.735409	0.98432	0	.	.	5.06	5.06	0.67838	4.481000	0.59983	7.025000	0.57281	0.580000	0.29708	0.063000	0.21864	0.999000	0.35428	0.983000	0.59808	0.0:1.0:0.0:0.0	14.304	0.65925	761	0.50382	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	2261.81	37	chr12	53060220	.	C	T	2261.81	.	AC=2;AF=0.053;AN=38;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.8;SOR=1.539	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2289,195,0	18	1	0	0
chr12	55492463	55492463	T	C	exonic	OR6C68	.	nonsynonymous SNV	OR6C68:NM_001005519:exon1:c.T86C:p.L29P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.00110185151161	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs771504396	5.473e-06	5.472e-06	5.446e-06	5.501e-06	8.117e-05	2.35e-06	1.7e-06	3.766e-05	2.662e-05	0	0	0	0	0	0	8.994e-07	0	8.117e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	7.237e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.237e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.99	0.78936	D	0.001649	0.38382	N	0.000000	0.537569	0.31439	N	3.735	0.94896	H	6.43	0.00538	T	-6.14	0.90140	D	0.628	0.64223	-1.1315	0.01712	T	0.011	0.04134	T	10	0.74222106	0.75038	D	0.001102	0.01312	T	0.182	0.45420	.	.	0.173771789658	0.16945	0.49795367936289026	0.49716	0.0151980745453	0.01445	0.227028742433	0.01756	T	0.117275	0.43725	T	-0.115598	0.33847	T	-0.167157	0.57704	T	0.74813389560018	0.43182	D	0.772623	0.40374	T	0.91629463	0.92890	0.83508486	0.90516	0.91629463	0.92891	0.83508486	0.90517	-14.332	0.94086	D	.	.	0.211	0.43842	B	.	.	2.826645	0.37253	20.4	0.99745173380248664	0.83778	0.32415	0.24579	N	AEFI	0.203830	0.33031	N	0.253107170522361	0.53792	3.546755	0.0274947016245607	0.40995	2.455679	0.0148885184969795	0.12650	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.77	4.77	0.60425	2.418000	0.44316	.	.	0.650000	0.52971	0.036000	0.20778	0.013000	0.20296	0.012000	0.09680	0.0:0.0:0.0:1.0	14.430	0.66817	747	0.52260	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	4065.81	33	chr12	55492463	.	T	C	4065.81	.	AC=2;AF=0.053;AN=38;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.27;SOR=1.234	GT:AD:DP:GQ:PL	1/1:0,126:126:99:4093,378,0	18	1	0	0
chr12	56716773	56716773	G	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.C4757G:p.T1586S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1944	296.73	32	chr12	56716773	.	G	C	296.73	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-3.781;DP=1467;ExcessHet=2.9153;FS=130.34;InbreedingCoeff=-0.2316;MLEAC=7;MLEAF=0.194;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=0.525;SOR=10.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,13:81:65:.:.:65,0,2562:.	11	0	7	1
chr12	56716774	56716774	T	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.A4756G:p.T1586A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00228384647801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.672e-06	0.0001	1.634e-06	1.712e-06	2.097e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.097e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.719	0.05363	T	0.01	0.15535	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	0.87	0.46412	T	0.47	0.03090	N	0.057	0.02861	-1.0187	0.24139	T	0.052	0.22269	T	7	0.052386343	0.05265	T	0.002284	0.04369	T	0.003	0.00094	0.231	0.15855	0.0551355673512	0.04727	.	.	.	.	.	.	.	0.05443	0.29723	T	-0.317768	0.07082	T	-0.694228	0.06147	T	0.0645078461183593	0.07859	T	0.325967	0.06723	T	0.04106803	0.05981	0.041717745	0.04806	0.04106803	0.05980	0.041717745	0.04805	-6.846	0.52900	T	.	.	0.134	0.29032	B	.	.	-0.114785	0.03555	0.684	0.19066523652983547	0.00627	0.13174	0.17706	N	AEFDBHCI	0.058886	0.11081	N	-1.18737061141861	0.05191	0.2360293	-1.27587405181014	0.04759	0.2252294	0.999971354431567	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	-1.65	0.07849	-3.807000	0.00406	-0.245000	0.10556	0.514000	0.23422	0.000000	0.06391	0.019000	0.20708	0.178000	0.21234	0.1834:0.5085:0.0:0.3081	4.844	0.12867	45	0.97767	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1053	101.41	36	chr12	56716774	.	T	C	101.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.514;DP=1288;ExcessHet=0.7564;FS=97.022;InbreedingCoeff=-0.1171;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=0.033;SOR=8.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,13:82:45:.:.:45,0,2590:.	15	0	4	0
chr12	57471942	57471942	C	T	exonic	GLI1	.	nonsynonymous SNV	GLI1:NM_001160045:exon10:c.C2818T:p.R940W,GLI1:NM_001167609:exon11:c.C3079T:p.R1027W,GLI1:NM_005269:exon12:c.C3202T:p.R1068W	.	411	1101	10	0	0	10	0.0045208	.	.	.	769242	not_provided|GLI1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.054	0.0172123518259	0.0002	0.000399361	0.0006	0.0003	0.0003	0.0001	0	0.0003	0.0011	0.0034	0.0005692	88	154602	rs149870317	0.0004	0.0004	0.0003	0.0005	0.0036	0.0004	0.0004	0.0033	0.0031	2.991e-05	0.0006	0	2.523e-05	0	0.0035	0.0002	0.0005	0.0036	0.0005	0.0005	0.0003	0.0007	0.0037	0.0004	0.0004	0.0024	0.0020	7.224e-05	0	0.0027	0	0	0	0	0.0002	0.0005	0.0037	0.003	0.68238	D	0.028	0.57587	D	0.978	0.58756	D	0.226	0.38054	B	0.540070	0.11545	N	0.760941	1	0.08975	N	0	0.06538	N	2.77	0.12575	T	-2.8	0.59226	D	0.19	0.20793	-0.9973	0.30673	T	0.017	0.07092	T	10	0.0041161478	0.00081	T	0.017212	0.38815	T	0.054	0.15330	.	.	0.387689773709	0.38380	0.31311579762671643	0.31224	0.25874892372	0.28431	0.308261394501	0.11645	T	0.645119	0.89163	D	-0.541262	0.00329	T	-0.553313	0.17009	T	0.0319883668361223	0.02305	T	0.551745	0.19033	T	0.118386954	0.27895	0.09547918	0.22648	0.11562303	0.27281	0.072004385	0.15482	-4.502	0.30915	T	.	.	0.135	0.29339	B	.;.;.;.	.;.;.;.	2.856564	0.37726	20.6	0.97500191716296747	0.34293	0.32856	0.24687	N	AEFBI	0.611927	0.60019	D	-0.59061138891684	0.19228	1.004733	-0.671739742570293	0.17668	0.9405331	0.990063324833088	0.32026	0.634777	0.41761	0	0.150725	0.03546	3	0.643519	0.47002	0	0.530356	0.10902	0	.	.	5.22	0.255	0.14819	1.151000	0.31263	2.454000	0.32825	-0.108000	0.15293	0.001000	0.13787	1.000000	0.68203	0.940000	0.48062	0.3676:0.1606:0.4718:0.0	4.368	0.10670	310	0.87484	.;.;.;.	.	.	.	.	.	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	1	0	1	0	.	.	.	.	.	.	.	.	0.05263	6203.81	80	chr12	57471942	.	C	T	6203.81	.	AC=2;AF=0.053;AN=38;DP=1462;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.86;SOR=0.786	GT:AD:DP:GQ:PL	1/1:0,201:201:99:6231,603,0	18	1	0	0
chr12	64688433	64688433	G	A	exonic	RASSF3	.	nonsynonymous SNV	RASSF3:NM_178169:exon3:c.G437A:p.R146H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0125424570887	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs368804088	1.437e-05	1.437e-05	8.171e-06	2.063e-05	0.0002	9.23e-06	7.84e-06	6.511e-05	4.449e-05	0.0001	6.708e-05	0	0.0002	0	0	5.398e-06	3.312e-05	0	2.629e-05	2.627e-05	1.285e-05	4.037e-05	7.24e-05	8.14e-06	5.14e-06	1.92e-05	1.032e-05	7.24e-05	0	0	0	0	0	0	1.47e-05	0	0	0.084	0.32929	T	0.25	0.23707	T	0.835	0.46254	P	0.293	0.40773	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.095	0.58118	M	1.57	0.29342	T	-4.26	0.76174	D	0.667	0.67564	-1.0734	0.08681	T	0.084	0.32843	T	9	0.2898627	0.46567	T	0.012542	0.31203	T	0.172	0.43662	.	.	0.463672176093	0.45992	0.536209984919891	0.53545	0.183075341833	0.20593	0.622682213783	0.56108	T	0.078754	0.35968	T	-0.237311	0.15694	T	-0.314229	0.43204	T	0.455381602048874	0.30995	T	0.907809	0.69822	D	0.37837288	0.59199	0.30610046	0.56636	0.37837288	0.59199	0.30610046	0.56635	-8.183	0.62310	D	.	.	0.119	0.24396	B	.;.;.	.;.;.	5.004971	0.83070	27.9	0.99799487517779073	0.88461	0.95657	0.65605	D	AEFDBIJ	0.638407	0.61684	D	0.430589744134268	0.63112	4.538742	0.503294708510021	0.68212	5.188931	0.999999989014326	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	5.851000	0.69211	11.739000	0.95154	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.226	0.93804	656	0.62345	Ras-associating (RA) domain|Ras-associating (RA) domain|Ras-associating (RA) domain;Ras-associating (RA) domain|Ras-associating (RA) domain|Ras-associating (RA) domain;Ras-associating (RA) domain|Ras-associating (RA) domain|Ras-associating (RA) 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	.	.	.	.	.	.	.	.	0.02632	1002.33	33	chr12	64688433	.	G	A	1002.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=696;ExcessHet=0;FS=4.455;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.973;SOR=1.25	GT:AD:DP:GQ:PL	0/1:42,38:80:99:1016,0,1041	18	0	1	0
chr12	70329450	70329450	T	C	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.T266C:p.M89T,CNOT2:NM_014515:exon5:c.T266C:p.M89T,CNOT2:NM_001199302:exon6:c.T266C:p.M89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.0131236657606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0024	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.366e-05	0	0	2.54e-05	0	0	0.0002	0.0001	5.893e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.72154	T	0.373	0.58613	T	0.089	0.25085	B	0.015	0.17295	B	0.000002	0.62929	D	0.156649	0.999987	0.54805	D	1.39	0.34934	L	0.75	0.50192	T	-1.37	0.73151	N	0.791	0.78737	-1.0546	0.13145	T	0.070	0.28609	T	10	0.3466993	0.51619	T	0.013124	0.32271	T	0.286	0.60456	0.221	0.14371	0.702063244252	0.69947	0.5511041298698888	0.55036	1.14100540041	0.78923	0.857781887054	0.90783	D	0.084111	0.37206	T	0.247529	0.78369	D	0.117782	0.78087	D	0.656853437423706	0.38758	D	0.789921	0.45805	T	0.21835071	0.44341	0.21838577	0.46539	0.21835071	0.44341	0.21838577	0.46538	-4.093	0.25187	T	.	.	0.581	0.70259	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.987872	0.58674	24.0	0.9772757362070762	0.35598	0.97687	0.76416	D	AEFBI	0.932963	0.92412	D	-0.161537160210571	0.34744	1.986992	0.0781611403978821	0.43451	2.64668	0.999999326455377	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.674000	0.83146	7.864000	0.71599	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.188	0.65156	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3125	1087.65	68	chr12	70329450	.	T	C	1087.65	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.25;DP=1266;ExcessHet=1.3;FS=238.943;InbreedingCoeff=-0.3919;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.57;ReadPosRankSum=0.577;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,18:86:99:0|1:70329448_G_A:443,0,2685:70329448	3	0	5	11
chr12	70329451	70329451	G	A	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.G267A:p.M89I,CNOT2:NM_014515:exon5:c.G267A:p.M89I,CNOT2:NM_001199302:exon6:c.G267A:p.M89I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0103649765516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.043e-07	6.894e-07	1.406e-06	0	9.311e-07	0	0	.	.	0	0	0	0	0	0	9.311e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.41364	T	0.74	0.14725	T	0.0	0.02946	B	0.0	0.01387	B	0.000002	0.62929	D	0.156649	0.999898	0.50595	D	1.735	0.44892	L	0.94	0.43672	T	-0.39	0.57599	N	0.48	0.51851	-1.0708	0.09238	T	0.062	0.25708	T	10	0.23940006	0.41079	T	0.010365	0.26807	T	0.130	0.35528	0.277	0.23004	0.369524611565	0.36568	0.44334245260416183	0.44252	1.09812664247	0.77639	0.794959783554	0.81196	T	0.070289	0.33924	T	-0.0695512	0.41400	T	-0.337682	0.40607	T	0.759007751941681	0.43794	D	0.931607	0.77964	D	0.2108132	0.43389	0.21262307	0.45739	0.2108132	0.43389	0.21262307	0.45738	-3.813	0.20999	T	.	.	0.372	0.61506	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.889866	0.56592	23.8	0.97936597058958741	0.36999	0.97640	0.76089	D	AEFBI	0.924572	0.90281	D	-0.117543626066413	0.36629	2.119811	0.139756337599154	0.46603	2.903537	0.999961322651884	0.48965	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.758000	0.84076	11.794000	0.96459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.588	0.87887	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.375	1175.06	68	chr12	70329451	.	G	A	1175.06	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-2.043;DP=1317;ExcessHet=2.0135;FS=255.631;InbreedingCoeff=-0.4337;MLEAC=10;MLEAF=0.625;MQ=60;MQRankSum=0;QD=2.32;ReadPosRankSum=0.613;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,18:86:99:0|1:70329448_G_A:443,0,2685:70329448	2	0	6	11
chr12	95282383	95282386	CCAA	-	exonic	VEZT	.	frameshift deletion	VEZT:NM_001352101:exon6:c.635_638del:p.A212Vfs*21,VEZT:NM_001352105:exon6:c.623_626del:p.A208Vfs*21,VEZT:NM_001352115:exon6:c.635_638del:p.A212Vfs*21,VEZT:NM_001352119:exon6:c.623_626del:p.A208Vfs*21,VEZT:NM_001352090:exon7:c.977_980del:p.A326Vfs*21,VEZT:NM_001352099:exon7:c.665_668del:p.A222Vfs*21,VEZT:NM_001352089:exon8:c.1079_1082del:p.A360Vfs*21,VEZT:NM_001352091:exon8:c.974_977del:p.A325Vfs*21,VEZT:NM_001352097:exon8:c.845_848del:p.A282Vfs*21,VEZT:NM_001352103:exon8:c.623_626del:p.A208Vfs*21,VEZT:NM_001352107:exon8:c.623_626del:p.A208Vfs*21,VEZT:NM_001352108:exon8:c.1079_1082del:p.A360Vfs*21,VEZT:NM_001352109:exon8:c.1079_1082del:p.A360Vfs*21,VEZT:NM_001352110:exon8:c.1067_1070del:p.A356Vfs*21,VEZT:NM_001352111:exon8:c.1067_1070del:p.A356Vfs*21,VEZT:NM_001352112:exon8:c.974_977del:p.A325Vfs*21,VEZT:NM_001352116:exon8:c.635_638del:p.A212Vfs*21,VEZT:NM_001352117:exon8:c.635_638del:p.A212Vfs*21,VEZT:NM_017599:exon8:c.1067_1070del:p.A356Vfs*21,VEZT:NM_001352088:exon9:c.1136_1139del:p.A379Vfs*21,VEZT:NM_001352092:exon9:c.935_938del:p.A312Vfs*21,VEZT:NM_001352093:exon9:c.935_938del:p.A312Vfs*21,VEZT:NM_001352096:exon9:c.923_926del:p.A308Vfs*21,VEZT:NM_001352100:exon9:c.1124_1127del:p.A375Vfs*21,VEZT:NM_001352102:exon9:c.635_638del:p.A212Vfs*21,VEZT:NM_001352104:exon9:c.623_626del:p.A208Vfs*21,VEZT:NM_001352106:exon9:c.623_626del:p.A208Vfs*21,VEZT:NM_001352113:exon9:c.923_926del:p.A308Vfs*21,VEZT:NM_001352094:exon10:c.923_926del:p.A308Vfs*21,VEZT:NM_001352095:exon10:c.923_926del:p.A308Vfs*21,VEZT:NM_001352118:exon10:c.623_626del:p.A208Vfs*21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	78.29	40	chr12	95282382	.	GCCAA	G	78.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.597;DP=818;ExcessHet=0;FS=56.549;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=2.97;SOR=6.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,20:139:92:0|1:95282382_GCCAA_G:92,0,4741:95282382	18	0	1	0
chr12	95282386	95282386	-	GGGG	exonic	VEZT	.	frameshift insertion	VEZT:NM_001352101:exon6:c.638_639insGGGG:p.N213Kfs*21,VEZT:NM_001352105:exon6:c.626_627insGGGG:p.N209Kfs*21,VEZT:NM_001352115:exon6:c.638_639insGGGG:p.N213Kfs*21,VEZT:NM_001352119:exon6:c.626_627insGGGG:p.N209Kfs*21,VEZT:NM_001352090:exon7:c.980_981insGGGG:p.N327Kfs*21,VEZT:NM_001352099:exon7:c.668_669insGGGG:p.N223Kfs*21,VEZT:NM_001352089:exon8:c.1082_1083insGGGG:p.N361Kfs*21,VEZT:NM_001352091:exon8:c.977_978insGGGG:p.N326Kfs*21,VEZT:NM_001352097:exon8:c.848_849insGGGG:p.N283Kfs*21,VEZT:NM_001352103:exon8:c.626_627insGGGG:p.N209Kfs*21,VEZT:NM_001352107:exon8:c.626_627insGGGG:p.N209Kfs*21,VEZT:NM_001352108:exon8:c.1082_1083insGGGG:p.N361Kfs*21,VEZT:NM_001352109:exon8:c.1082_1083insGGGG:p.N361Kfs*21,VEZT:NM_001352110:exon8:c.1070_1071insGGGG:p.N357Kfs*21,VEZT:NM_001352111:exon8:c.1070_1071insGGGG:p.N357Kfs*21,VEZT:NM_001352112:exon8:c.977_978insGGGG:p.N326Kfs*21,VEZT:NM_001352116:exon8:c.638_639insGGGG:p.N213Kfs*21,VEZT:NM_001352117:exon8:c.638_639insGGGG:p.N213Kfs*21,VEZT:NM_017599:exon8:c.1070_1071insGGGG:p.N357Kfs*21,VEZT:NM_001352088:exon9:c.1139_1140insGGGG:p.N380Kfs*21,VEZT:NM_001352092:exon9:c.938_939insGGGG:p.N313Kfs*21,VEZT:NM_001352093:exon9:c.938_939insGGGG:p.N313Kfs*21,VEZT:NM_001352096:exon9:c.926_927insGGGG:p.N309Kfs*21,VEZT:NM_001352100:exon9:c.1127_1128insGGGG:p.N376Kfs*21,VEZT:NM_001352102:exon9:c.638_639insGGGG:p.N213Kfs*21,VEZT:NM_001352104:exon9:c.626_627insGGGG:p.N209Kfs*21,VEZT:NM_001352106:exon9:c.626_627insGGGG:p.N209Kfs*21,VEZT:NM_001352113:exon9:c.926_927insGGGG:p.N309Kfs*21,VEZT:NM_001352094:exon10:c.926_927insGGGG:p.N309Kfs*21,VEZT:NM_001352095:exon10:c.926_927insGGGG:p.N309Kfs*21,VEZT:NM_001352118:exon10:c.626_627insGGGG:p.N209Kfs*21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	81.29	42	chr12	95282386	.	A	AGGGG	81.29	.	AC=1;AF=0.026;AN=38;DP=1115;ExcessHet=0;FS=56.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.59;ReadPosRankSum=2.73;SOR=6.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,20:138:95:0|1:95282382_GCCAA_G:95,0,4719:95282382	18	0	1	0
chr12	105061661	105061661	G	A	exonic	ALDH1L2	.	nonsynonymous SNV	ALDH1L2:NM_001034173:exon8:c.C1013T:p.T338I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0526618555529	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs766587949	6.841e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	6.571e-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	0.022	0.48642	D	0.031	0.53788	D	0.857	0.47240	P	0.387	0.44046	B	0.000009	0.62929	D	0.144833	1	0.81001	D	2.645	0.77386	M	-0.99	0.75911	T	-4.33	0.76740	D	0.636	0.64903	-0.0195	0.81849	T	0.444	0.78112	T	10	0.7274646	0.74070	D	0.052662	0.65161	D	0.192	0.47115	0.424	0.46857	0.942189031282	0.94158	0.7911739815142591	0.79069	0.465709747895	0.45997	0.6597635746	0.61375	T	0.378621	0.74155	T	0.0834356	0.62440	D	-0.117927	0.61973	T	0.98406594991684	0.75504	D	0.859414	0.55137	D	0.3487232	0.56967	0.24594975	0.50093	0.3487232	0.56967	0.24594975	0.50092	-8.489	0.64357	D	.	.	0.518	0.65399	A	.	.	3.961164	0.58095	23.9	0.99905517731659732	0.97651	0.98320	0.81598	D	AEFGBI	0.790144	0.71912	D	0.550224312150136	0.70095	5.451553	0.560360088329194	0.72122	5.760221	0.99993177455045	0.46732	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.62	5.62	0.85714	6.622000	0.74100	11.546000	0.93156	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.680000	0.33542	0.0:0.0:1.0:0.0	19.285	0.94054	929	0.16858	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1881.33	35	chr12	105061661	.	G	A	1881.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.627;DP=756;ExcessHet=0;FS=1.398;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.989;SOR=0.693	GT:AD:DP:GQ:PL	0/1:59,71:130:99:1895,0,1492	18	0	1	0
chr12	109769020	109769020	C	T	exonic	FAM222A	.	nonsynonymous SNV	FAM222A:NM_032829:exon3:c.C1091T:p.A364V	.	410	1109	3	0	0	3	0.00135074	.	.	.	2394894	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.0953522004354	7.7e-05	.	0.0006	0	0	0.0005	0.0020	0.0011	0	0.0002	0.0002587	40	154602	rs377710576	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	0	0.0002	0	2.625e-05	6.532e-05	0.0014	0.0003	0.0005	0.0003	0.0003	0.0003	0.0002	0.0004	0.0005	0.0002	0.0002	0.0004	0.0003	4.809e-05	0	0.0003	0	0	9.411e-05	0.0068	0.0005	0.0005	0.0004	0.183	0.21718	T	0.178	0.29639	T	0.296	0.32457	B	0.024	0.20255	B	0.012360	0.29204	N	0.355425	1	0.08975	N	1.7	0.43825	L	1.54	0.30133	T	-1.27	0.31981	N	0.192	0.21056	-1.0259	0.21788	T	0.044	0.19070	T	10	0.031275064	0.01260	T	0.095352	0.76413	D	0.071	0.20720	.	.	0.0297737177859	0.01360	0.379843303805573	0.37899	0.186199718407	0.20930	0.692582964897	0.66077	T	0.037692	0.24567	T	-0.457612	0.01017	T	-0.567144	0.15713	T	0.0262866104588757	0.01444	T	0.574643	0.20620	T	0.0849206	0.19678	0.14529562	0.34464	0.0849206	0.19677	0.14529562	0.34463	-4.982	0.36644	T	0.1245951310784436	0.12252	0.090	0.12512	B	.;.	.;.	1.682821	0.21443	15.20	0.98189190805331306	0.39018	0.20674	0.21127	N	AEFDBI	0.115847	0.22761	N	-0.639339127996617	0.17771	0.9173104	-0.65477874193357	0.18096	0.9652058	0.892954886750775	0.25895	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.18	3.22	0.36041	2.270000	0.43014	3.022000	0.36006	0.456000	0.21511	0.744000	0.29069	0.994000	0.32194	0.197000	0.21808	0.0:0.8252:0.1748:0.0	11.918	0.52058	743	0.52768	.;.	.	.	.	.	.	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	0.004061	0.000000	0.004098	0.005882	0.000000	0.000000	0.009202	0.000000	0.02632	986.33	34	chr12	109769020	.	C	T	986.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.699;DP=718;ExcessHet=0;FS=4.866;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.63;SOR=1.329	GT:AD:DP:GQ:PL	0/1:34,35:69:99:1000,0,951	18	0	1	0
chr12	110487913	110487913	A	G	exonic	FAM216A	.	nonsynonymous SNV	FAM216A:NM_013300:exon6:c.A673G:p.R225G	.	442	1054	25	1	0	27	0.0126464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	.	0.0059	0.00379393	0.0058	0.0009	0.0016	0	0.0044	0.0088	0.0033	0.0038	0.0059572	921	154602	rs17188964	0.0079	0.0081	0.0079	0.0079	0.0139	0.0078	0.0077	0.0115	0.0106	0.0014	0.0022	0.0091	0	0.0051	0.0139	0.0090	0.0074	0.0041	0.0055	0.0055	0.0061	0.0049	0.0092	0.0052	0.0051	0.0086	0.0084	0.0012	0.0077	0.0042	0.0110	0	0.0028	0.0034	0.0092	0.0052	0.0035	0.004	0.65419	D	0.011	0.64786	D	0.965	0.56013	D	0.638	0.52030	P	0.055943	0.22600	N	0.323153	1	0.81001	D	1.04	0.26193	L	0.66	0.52416	T	-2.61	0.56144	D	0.236	0.26596	-1.0503	0.14313	T	0.057	0.23980	T	10	0.0070593655	0.00160	T	.	.	.	0.243	0.54921	.	.	0.402043589563	0.39814	0.21282060999458166	0.21198	0.177609951616	0.19982	0.311449468136	0.12126	T	0.111858	0.42768	T	-0.3221	0.06727	T	-0.228059	0.51959	T	0.0293136584605625	0.01885	T	0.762924	0.38892	T	0.15291925	0.34689	0.18153362	0.41023	0.15291925	0.34689	0.18153362	0.41022	-4.597	0.32134	T	.	.	0.204	0.42962	B	.	.	3.503975	0.49039	22.7	0.99829362642417319	0.91112	0.67799	0.33564	D	AEFBI	0.243090	0.36442	N	0.188194027518038	0.50632	3.251376	0.207468649649226	0.50260	3.220038	0.0107675638402065	0.12078	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.45	3.28	0.36691	0.794000	0.26619	5.137000	0.47688	-0.118000	0.14412	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.7556:0.2444:0.0:0.0	7.402	0.26141	268	0.89479	.	GIT2|FAM109A	Spleen|Stomach	.	.	.	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	0.009577	0.000000	0.008152	0.020468	0.000000	0.000000	0.012195	0.011364	0.02632	880.33	33	chr12	110487913	.	A	G	880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=-0.017;SOR=0.676	GT:AD:DP:GQ:PL	0/1:66,38:104:99:894,0,1620	18	0	1	0
chr12	111598975	111598975	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	3	208	8	0	7	15	0.0188679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1288.21	33	chr12	111598975	.	C	*	1288.21	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.823;DP=822;ExcessHet=0.0101;FS=5.564;InbreedingCoeff=0.4409;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-1.12;SOR=0.461	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,14:27:99:1|0:111598974_GC_G:1018,501,575:111598974	17	0	2	0
chr12	111598977	111598993	GTTGCTGCTGCTGCTGC	-	exonic	ATXN2	.	frameshift deletion	ATXN2:NM_001372574:exon1:c.42_58del:p.Q15Afs*69,ATXN2:NM_002973:exon1:c.42_58del:p.Q15Afs*69	Spinocerebellar ataxia 2, Autosomal dominant	79	1408	23	0	12	35	0.00810144	.	.	.	3203406	ATXN2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0	0	0	0	0.0011	0	0.0022	7.68e-05	2	26028	rs759304594	0.0024	0.0038	0.0024	0.0024	0.0065	0.0023	0.0023	0.0057	0.0054	0.0046	0.0011	0.0004	0.0065	0.0014	0.0013	0.0024	0.0023	0.0018	0.0037	0.0037	0.0038	0.0035	0.0053	0.0034	0.0033	0.0047	0.0045	0.0053	0	0.0029	0.0012	0.0032	0.0010	0	0.0037	0.0048	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	588.78	33	chr12	111598976	.	TGTTGCTGCTGCTGCTGC	T	588.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.029;DP=829;ExcessHet=0.119;FS=4.208;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=0.997;SOR=0.38	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,14:31:99:0|1:111598974_GC_G:492,0,628:111598974	18	0	1	0
chr12	111598978	111598978	T	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2343.5	33	chr12	111598978	.	T	*	2343.5	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.248;DP=853;ExcessHet=0.3441;FS=3.441;InbreedingCoeff=0.1244;MLEAC=2;MLEAF=0.053;MQ=59.94;MQRankSum=0;QD=12.53;ReadPosRankSum=0.74;SOR=0.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,14:27:99:.:.:1213,549,618:.	17	0	2	0
chr12	111598992	111598993	GC	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	86	1391	38	2	5	47	0.0148725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	54.42	32	chr12	111598992	.	GC	*	54.42	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.128;DP=815;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0839;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=0.381;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,14:27:69:.:.:664,0,69:.	18	0	1	0
chr12	111598993	111598993	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	265	331	379	543	4	1469	0.688764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	15440.0	33	chr12	111598993	.	C	*	15440.0	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.703;DP=844;ExcessHet=7.7183;FS=1.872;InbreedingCoeff=-0.3571;MLEAC=2;MLEAF=0.053;MQ=59.97;MQRankSum=0;QD=21.9;ReadPosRankSum=0.258;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,14:27:69:.:.:664,0,69:.	17	0	2	0
chr12	112908758	112908758	G	C	exonic	OAS1	.	nonsynonymous SNV	OAS1:NM_001032409:exon2:c.G403C:p.V135L,OAS1:NM_001320151:exon2:c.G403C:p.V135L,OAS1:NM_002534:exon2:c.G403C:p.V135L,OAS1:NM_016816:exon2:c.G403C:p.V135L	.	.	.	.	.	.	.	.	.	.	.	3795786	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.040	0.00540841206022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.38863	T	0.118	0.39492	T	0.218	0.38765	B	0.079	0.35598	B	0.002372	0.00882	N	3.127030	1	0.08975	N	2.4	0.69460	M	3.17	0.07599	T	-0.77	0.25332	N	0.156	0.20793	-0.9910	0.32347	T	0.038	0.16591	T	10	0.09126073	0.15970	T	0.005408	0.13893	T	0.040	0.10527	0.483	0.56462	0.163833314356	0.15978	0.2404507997707288	0.23959	0.0670847127175	0.07489	0.298030048609	0.10109	T	0.058044	0.30734	T	-0.299933	0.08667	T	-0.66861	0.07697	T	0.17577853423284	0.18965	T	0.552645	0.22725	T	0.12747319	0.29830	0.06511077	0.13150	0.12747319	0.29829	0.06511077	0.13150	-5.291	0.40611	T	.	.	0.156	0.40984	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.518890	0.01808	0.141	0.91032557023716598	0.20283	0.04893	0.10639	N	AEFDBCI	.	.	.	-0.83054440499531	0.12534	0.6115645	-1.0041014899417	0.09695	0.4838151	0.99996690412735	0.48965	0.627647	0.40530	0	0.672317	0.65289	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.31	-2.06	0.06894	-1.266000	0.02950	-3.841000	0.02502	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.5205:0.1741:0.3054:0.0	4.653	0.11988	91	0.96221	.;.;.;.;.;.	.	.	.	.	.	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	1	0	.	.	.	.	.	.	.	.	0.02632	1989.33	33	chr12	112908758	.	G	C	1989.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=778;ExcessHet=0;FS=2.083;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-2.436;SOR=0.894	GT:AD:DP:GQ:PL	0/1:74,75:149:99:2003,0,1842	18	0	1	0
chr12	113115652	113115652	C	T	exonic	RASAL1	.	nonsynonymous SNV	RASAL1:NM_001193521:exon10:c.G986A:p.R329H,RASAL1:NM_001301202:exon10:c.G986A:p.R329H,RASAL1:NM_001193520:exon11:c.G986A:p.R329H,RASAL1:NM_004658:exon11:c.G986A:p.R329H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.101491538539	.	0.000199681	4.205e-05	0	0.0004	0	0	0	0	6.196e-05	3.88e-05	6	154602	rs546480514	8.897e-06	8.893e-06	8.171e-06	9.63e-06	0.0001	4.96e-06	3.83e-06	4.359e-05	2.767e-05	0	0.0001	0	2.519e-05	0	0	4.497e-06	0	2.32e-05	1.313e-05	1.312e-05	2.569e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.53e-05	0	0	0	0	0	0	0.0002	0.24	0.27783	T	0.152	0.32249	T	0.999	0.90584	D	0.954	0.70309	D	0.000005	0.62929	D	0.061943	0.999403	0.46935	D	2.11	0.58565	M	-1.33	0.79854	T	-2.06	0.47175	N	0.458	0.50056	-0.1495	0.78928	T	0.563	0.84101	D	10	0.46016693	0.59235	T	0.101492	0.77440	D	0.470	0.76421	0.582	0.70861	0.90961705582	0.90871	0.38360002823612904	0.38275	1.06917988701	0.76748	0.472148776054	0.34976	T	0.155653	0.49747	T	-0.140845	0.29756	T	-0.170791	0.57370	T	0.748820841312408	0.43219	D	0.864214	0.56114	D	0.23122378	0.45890	0.17794445	0.40430	0.23122378	0.45890	0.17794445	0.40430	-7.174	0.56174	T	0.2825105298324076	0.37803	0.135	0.34906	B	.;.;.;.	.;.;.;.	4.894677	0.80401	27.3	0.99945752860819903	0.99901	0.98116	0.79734	D	AEFDGBI	0.666595	0.63500	D	0.427884373665948	0.62962	4.520912	0.448148021171393	0.64596	4.718664	0.9999999960223	0.74766	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.35	5.35	0.76297	3.013000	0.49270	3.921000	0.40471	0.549000	0.26987	0.992000	0.37556	0.999000	0.35428	0.998000	0.85391	0.0:1.0:0.0:0.0	17.817	0.88551	679	0.60090	.;Ras GTPase-activating domain|Ras GTPase-activating domain|Ras GTPase-activating domain|RASAL, RasGAP 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	.	.	.	.	.	.	.	.	0.02632	32.33	52	chr12	113115652	.	C	T	32.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.224;DP=889;ExcessHet=0;FS=21.778;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.47;ReadPosRankSum=1.02;SOR=4.307	GT:AD:DP:GQ:PL	0/1:56,13:69:46:46,0,1456	18	0	1	0
chr12	121133096	121133096	G	T	splicing	P2RX7	NM_002562:exon1:c.125+1G>T	.	.	.	421	1087	13	1	0	15	0.00685244	1.0000	0.934	.	482275	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0074	0.00359425	0.0054	0.0012	0.0041	0	0.0024	0.0083	0.0044	0.0012	0.0057244	885	154602	rs35933842	0.0075	0.0075	0.0076	0.0073	0.0101	0.0074	0.0073	0.0087	0.0086	0.0012	0.0050	0.0048	5.039e-05	0.0027	0.0101	0.0088	0.0065	0.0012	0.0053	0.0053	0.0054	0.0051	0.0086	0.0050	0.0048	0.0080	0.0078	0.0016	0	0.0059	0.0052	0	0.0024	0.0102	0.0086	0.0066	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0878459	0.38431	T	0.113363	0.77795	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.945919	0.94145	33	0.99237745327026916	0.56437	0.89025	0.49249	D	ALL	.	.	.	0.968598979980077	0.94693	12.96251	0.781160319509153	0.88452	9.588146	0.999999999819479	0.74766	0.046548	0.00263	1	0.073863	0.01883	0	0.03606	0.00165	1	0.054758	0.00131	0	0.974617	0.77319	4.5	4.5	0.54382	4.224000	0.58391	11.665000	0.94033	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.911000	0.44643	0.0:0.0:1.0:0.0	12.883	0.57418	369	0.84396	.	.	.	.	.	rs35933842	Likely benign	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	1	0	.	.	.	.	.	.	.	.	0.02632	1947.33	33	chr12	121133096	.	G	T	1947.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.143;DP=787;ExcessHet=0;FS=4.996;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-1.897;SOR=1.135	GT:AD:DP:GQ:PL	0/1:69,78:147:99:1961,0,1729	18	0	1	0
chr12	121184747	121184747	G	A	exonic	P2RX7	.	nonsynonymous SNV	P2RX7:NM_002562:exon13:c.G1733A:p.R578Q	.	415	1089	17	1	0	19	0.00864816	.	.	.	437949	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.292	0.0248566436925	0.0025	0.00319489	0.0061	0.0005	0.0052	0	0	0.0070	0	0.0077	0.0025485	394	154602	rs28360460	0.0054	0.0053	0.0053	0.0055	0.0081	0.0053	0.0052	0.0075	0.0073	0.0010	0.0025	0.0053	0.0001	0.0013	0.0067	0.0058	0.0047	0.0081	0.0034	0.0034	0.0035	0.0032	0.0058	0.0031	0.0030	0.0048	0.0046	0.0010	0	0.0029	0.0046	0.0004	0.0009	0.0034	0.0052	0.0071	0.0058	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.932	0.66722	D	0.000568	0.43250	D	0.000000	0.996597	0.43297	D	2.78	0.81115	M	.	.	.	.	.	.	0.762	0.76019	-0.6451	0.62926	T	0.175	0.51927	T	10	0.010714412	0.00237	T	0.024857	0.47845	T	0.292	0.61157	.	.	0.828905317767	0.82728	0.8286462745371947	0.82822	.	.	0.455148756504	0.32647	T	0.267225	0.63924	T	0.0604773	0.59672	T	0.31824	0.89017	D	0.0185732544201584	0.00572	T	0.892511	0.62902	D	0.13353944	0.31056	0.19491485	0.43139	0.13353944	0.31056	0.19491485	0.43139	-5.238	0.39326	T	0.7238937996200687	0.80517	0.223	0.45409	B	.	.	5.066532	0.84472	28.3	0.99949572079195992	0.99938	0.94025	0.59887	D	AEFDGBHCI	0.792576	0.72083	D	0.811249774334158	0.86804	9.004653	0.750582436068223	0.86199	8.813995	0.999999999995612	0.74766	0.490419	0.18000	1	0.588066	0.40923	0	0.667716	0.60424	0	0.613276	0.41899	0	.	.	5.47	5.47	0.80345	7.119000	0.76770	8.479000	0.77294	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	16.045	0.80517	527	0.73864	.	.	.	.	.	.	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	0.007209	0.005319	0.005510	0.008876	0.000000	0.008772	0.006329	0.019380	0.02632	1099.33	44	chr12	121184747	.	G	A	1099.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.507;DP=860;ExcessHet=0;FS=2.051;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.93;ReadPosRankSum=-0.036;SOR=1.065	GT:AD:DP:GQ:PL	0/1:30,39:69:99:1113,0,804	18	0	1	0
chr12	123671527	123671527	C	T	exonic	TCTN2	.	stopgain	TCTN2:NM_001143850:exon2:c.C103T:p.R35X,TCTN2:NM_024809:exon2:c.C103T:p.R35X	Joubert syndrome 24, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.573e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.317944	0.14320	N	0.675840	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.161	0.16864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618043	0.98066	D	0.65	0.98035	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	8.562340	0.97721	38	0.99744898231373291	0.83778	0.39613	0.26252	N	AEFDGBCI	0.029505	0.02796	N	0.714168141937916	0.80561	7.321557	0.554787391678584	0.71729	5.699725	0.999998472150117	0.74766	0.766844	0.99359	0	0.516746	0.08562	0	0.685571	0.62057	0	0.554799	0.18163	0	.	.	4.65	3.74	0.42108	1.792000	0.38387	4.593000	0.43966	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0:0.8295:0.0:0.1705	8.296	0.31145	346	0.85643	.;.	.	.	.	.	.	Uncertain significance	1	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	.	.	.	.	.	.	.	.	0.02632	2259.33	33	chr12	123671527	.	C	T	2259.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.92;DP=846;ExcessHet=0;FS=2.361;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.679;SOR=0.54	GT:AD:DP:GQ:PL	0/1:120,93:213:99:2273,0,2785	18	0	1	0
chr12	133121579	133121579	C	G	exonic	ZNF891	.	nonsynonymous SNV	ZNF891:NM_001277291:exon2:c.G340C:p.D114H	.	419	1098	5	0	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00525391171147	.	0.000399361	0.0027	0	0	0	0.0025	0.0042	0.0053	0.0022	0.0004657	72	154602	rs148080897	0.0015	0.0014	0.0014	0.0016	0.0126	0.0015	0.0014	0.0103	0.0094	9.495e-05	0.0010	0.0037	0	0.0043	0.0126	0.0014	0.0014	0.0021	0.0016	0.0016	0.0016	0.0017	0.0021	0.0015	0.0014	0.0018	0.0017	0.0001	0	0.0017	0.0026	0	0.0051	0	0.0021	0.0038	0.0006	0.008	0.58626	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.40313	L	3.08	0.08460	T	-4.32	0.76655	D	0.127	0.12055	-1.0288	0.20843	T	0.025	0.10866	T	5	0.006249815	0.00141	T	0.005254	0.13402	T	0.016	0.02506	.	.	0.043077524339	0.03247	0.05119870933458279	0.05061	0.116064697105	0.13092	0.301476657391	0.10621	T	0.059445	0.31117	T	-0.592725	0.00161	T	-0.626291	0.10698	T	0.0661600689887891	0.08102	T	0.360464	0.08297	T	0.16370904	0.36530	0.1732918	0.39646	0.16370904	0.36529	0.1732918	0.39645	-6.752	0.52201	T	.	.	0.203	0.42863	B	.	.	2.106485	0.26808	17.25	0.98436527277746133	0.41464	0.10290	0.15837	N	AEFBI	0.057132	0.10617	N	-0.535498910583918	0.20940	1.107668	-0.720208325404347	0.16457	0.8707259	2.64431072120241E-4	0.06244	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.46	0.497	0.16109	-0.306000	0.08217	0.107000	0.14728	0.599000	0.40250	0.000000	0.06391	0.161000	0.23262	0.235000	0.22869	0.0:0.5982:0.1806:0.2211	5.000	0.13603	856	0.34373	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1895.33	46	chr12	133121579	.	C	G	1895.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.124;DP=831;ExcessHet=0;FS=1.53;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.77;ReadPosRankSum=0;SOR=0.879	GT:AD:DP:GQ:PL	0/1:49,64:113:99:1909,0,1378	18	0	1	0
chr13	24709814	24709814	T	C	exonic	ATP12A	.	nonsynonymous SNV	ATP12A:NM_001185085:exon19:c.T2767C:p.Y923H,ATP12A:NM_001676:exon19:c.T2749C:p.Y917H	.	.	.	.	.	.	.	.	.	.	.	4081608	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.798	0.202134380482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	8.961e-05	5.5e-07	1.5e-07	2.375e-05	1.258e-05	8.961e-05	0	0	0	0	0	0	0	0	6.568e-06	6.566e-06	1.284e-05	0	2.411e-05	0	0	.	.	2.411e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.029	0.54541	D	1.0	0.90584	D	0.995	0.83170	D	0.000002	0.62929	D	0.000000	1	0.81001	D	3.2	0.89116	M	-2.53	0.89430	D	-3.86	0.72471	D	0.916	0.91852	0.960	0.96546	D	0.868	0.95597	D	10	0.90547967	0.89912	D	0.202134	0.86803	D	0.798	0.93385	0.637	0.77361	0.970416959381	0.97010	0.6089432320226787	0.60826	0.938536902069	0.72127	0.676008105278	0.63697	T	0.876936	0.97389	D	0.340834	0.85893	D	0.251808	0.85707	D	0.992655754089355	0.83191	D	0.981169	0.93529	D	0.73228794	0.79853	0.65625703	0.79873	0.73228794	0.79854	0.65625703	0.79874	-8.614	0.65182	D	.	.	0.282	0.51489	B	.;.	.;.	4.068727	0.60437	24.2	0.99761222672156058	0.85091	0.97603	0.75838	D	AEFDBCI	0.900095	0.84522	D	0.839407713885512	0.88498	9.600673	0.733366893099561	0.84910	8.425885	0.999999999981971	0.74766	0.65861	0.49226	0	0.618376	0.53248	0	0.725225	0.93170	0	0.564101	0.26826	0	.	.	6.03	6.03	0.97798	7.924000	0.86974	7.945000	0.75661	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.110000	0.18741	0.0:0.0:0.0:1.0	14.518	0.67415	975	0.05339	.;Cation-transporting P-type ATPase, C-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	.	.	.	.	.	.	.	.	0.02632	894.33	39	chr13	24709814	.	T	C	894.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.124;DP=788;ExcessHet=0;FS=1.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-0.579;SOR=0.874	GT:AD:DP:GQ:PL	0/1:29,33:62:99:908,0,824	18	0	1	0
chr13	25097003	25097003	A	T	exonic	PABPC3	.	stopgain	PABPC3:NM_030979:exon1:c.A805T:p.K269X	.	424	1083	15	0	0	15	0.00687758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277822604	0.0002	0.0050	0.0002	0.0002	0.0041	0.0002	0.0001	0.0035	0.0033	0	0.0016	7.768e-05	0.0041	0	0	4.503e-06	3.344e-05	0.0004	0.0041	0.0091	0.0035	0.0048	0.0657	0.0039	0.0038	0.0596	0.0572	0.0004	0	0.0089	0.0070	0.0657	0.0011	0.0034	0.0010	0.0058	0.0126	.	.	.	.	.	.	.	.	.	.	.	.	0.000139	0.49741	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.140945	0.94653	34	0.9935812595185205	0.60904	0.74223	0.36307	D	AEFDGBCI	0.049555	0.08574	N	0.46821757552781	0.65244	4.798183	0.20675132937927	0.50222	3.216508	0.268396305870421	0.18866	0.706298	0.61202	0	0.693144	0.66847	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	0.875	0.875	0.18266	6.513000	0.73652	9.425000	0.80773	0.393000	0.20503	1.000000	0.71638	1.000000	0.68203	0.770000	0.36519	1.0:0.0:0.0:0.0	5.899	0.18200	929	0.16858	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1579	3058.4	221	chr13	25097003	.	A	T	3058.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.405;DP=3659;ExcessHet=2.0135;FS=2.941;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=59.24;MQRankSum=-3.073;QD=2.12;ReadPosRankSum=-1.584;SOR=1.063	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:235,31:266:99:.:.:565,0,9700:.	13	0	6	0
chr13	25097021	25097021	G	0	exonic	PABPC3	.	.	.	.	424	831	13	0	254	267	0.00776119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	1961.21	262	chr13	25097021	.	G	*	1961.21	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.31;DP=4417;ExcessHet=25.4433;FS=7.047;InbreedingCoeff=-0.7273;MLEAC=12;MLEAF=0.316;MQ=59.32;MQRankSum=-8.053;QD=0.46;ReadPosRankSum=-0.802;SOR=1.348	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:213,46:291:99:0|1:25097021_G_T:1319,0,8798:25097021	7	0	12	0
chr13	25097025	25097030	TTAAGC	0	exonic	PABPC3	.	.	.	.	431	824	13	0	254	267	0.00782661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	1939.17	262	chr13	25097025	.	TTAAGC	*	1939.17	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.93;DP=4472;ExcessHet=25.4433;FS=5.818;InbreedingCoeff=-0.7273;MLEAC=12;MLEAF=0.316;MQ=59.31;MQRankSum=-8.049;QD=0.45;ReadPosRankSum=-0.761;SOR=1.324	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:225,46:303:99:0|1:25097021_G_T:1324,0,9277:25097021	7	0	12	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4167	5180.53	132	chr13	42303097	.	G	C	5180.53	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.864;DP=2672;ExcessHet=20.8569;FS=361.789;InbreedingCoeff=-0.6834;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=0.708;SOR=13.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:103,41:146:99:.:.:214,0,2279:.	3	0	15	1
chr13	45970446	45970446	C	G	exonic	ZC3H13	.	nonsynonymous SNV	ZC3H13:NM_001382214:exon10:c.G1987C:p.G663R,ZC3H13:NM_001076788:exon13:c.G2488C:p.G830R,ZC3H13:NM_001330564:exon13:c.G2488C:p.G830R,ZC3H13:NM_001330565:exon13:c.G2488C:p.G830R,ZC3H13:NM_001330567:exon13:c.G2488C:p.G830R,ZC3H13:NM_001382207:exon13:c.G2488C:p.G830R,ZC3H13:NM_001382208:exon13:c.G2488C:p.G830R,ZC3H13:NM_001382210:exon13:c.G2488C:p.G830R,ZC3H13:NM_015070:exon13:c.G2488C:p.G830R,ZC3H13:NM_001330566:exon14:c.G2488C:p.G830R,ZC3H13:NM_001382206:exon14:c.G2488C:p.G830R,ZC3H13:NM_001382209:exon14:c.G2488C:p.G830R,ZC3H13:NM_001382211:exon14:c.G2572C:p.G858R,ZC3H13:NM_001382212:exon14:c.G2572C:p.G858R,ZC3H13:NM_001382213:exon14:c.G2572C:p.G858R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.00762400702793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	9.577e-06	0	1.376e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.583	0.08419	T	0.779	0.47319	P	0.235	0.44907	B	0.000156	0.49130	D	0.087577	0.977813	0.39402	D	0.895	0.22405	L	2.53	0.30401	T	-0.77	0.21429	N	0.392	0.43320	-1.1267	0.01947	T	0.044	0.18989	T	10	0.16020203	0.30082	T	0.007624	0.20219	T	0.106	0.30130	0.378	0.39319	0.043077524339	0.03247	0.07911658979170291	0.07846	0.410152022438	0.41809	.	.	.	0.009913	0.08996	T	-0.122369	0.32738	T	-0.413551	0.31818	T	0.602753049113717	0.36509	D	0.816918	0.47330	T	0.2341677	0.46232	0.19447622	0.43072	0.2341677	0.46232	0.19447622	0.43072	-0.281	0.00472	T	.	.	0.919	0.84099	P	.;.	.;.	4.261732	0.64772	24.7	0.98704051720380592	0.44953	0.97612	0.75899	D	AEFBI	0.788839	0.71821	D	0.317944642097735	0.57069	3.873031	0.444560553296875	0.64367	4.690396	0.993695492639894	0.33317	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.93	4.98	0.65679	5.274000	0.65380	5.937000	0.51416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.6851:0.0:0.3148	3.919	0.08735	677	0.60274	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02778	52.71	54	chr13	45970446	.	C	G	52.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.205;DP=915;ExcessHet=0;FS=116.371;InbreedingCoeff=-0.0412;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=0.68;ReadPosRankSum=0.715;SOR=6.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:56,22:78:66:.:.:66,0,1312:.	17	0	1	1
chr13	77618018	77618018	A	G	exonic	SCEL	.	nonsynonymous SNV	SCEL:NM_001160706:exon25:c.A1460G:p.N487S,SCEL:NM_003843:exon26:c.A1526G:p.N509S,SCEL:NM_144777:exon27:c.A1586G:p.N529S	.	412	1103	6	1	0	8	0.00361337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00429397487723	0.0032	0.00139776	0.0045	0.0009	0.0010	0	0.0065	0.0063	0.0055	0.0035	0.0045795	708	154602	rs145663548	0.0049	0.0050	0.0050	0.0049	0.0055	0.0048	0.0048	0.0054	0.0054	0.0006	0.0027	0.0011	0	0.0069	0.0035	0.0055	0.0039	0.0031	0.0041	0.0041	0.0044	0.0039	0.0067	0.0039	0.0038	0.0062	0.0060	0.0010	0	0.0038	0.0012	0	0.0049	0	0.0067	0.0024	0.0029	0.025	0.57480	D	0.028	0.56192	D	0.571	0.38591	P	0.163	0.34892	B	0.337008	0.14023	N	0.679388	1	0.08975	N	2.39	0.68882	M	1.46	0.32238	T	-1.37	0.34198	N	0.164	0.17691	-1.0433	0.16324	T	0.056	0.23413	T	10	0.003091246	0.00051	T	0.004294	0.10404	T	0.104	0.29647	.	.	0.224531998449	0.22054	0.45143971070031136	0.45061	0.0467349534079	0.05080	0.327143222094	0.14503	T	0.067987	0.33341	T	-0.633239	0.00091	T	-0.678236	0.07092	T	0.0182409550934166	0.00544	T	0.646135	0.25753	T	0.06605203	0.14177	0.08694028	0.20175	0.06605203	0.14176	0.08694028	0.20175	-4.982	0.36644	T	.	.	0.095	0.14933	B	.;.;.	.;.;.	1.612060	0.20598	14.82	0.920899846336798	0.21439	0.04172	0.09668	N	AEFI	0.045035	0.07317	N	-0.496300644983978	0.22201	1.183811	-0.535518719363126	0.21191	1.145226	0.933631149096815	0.27138	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.35	1.54	0.22290	1.129000	0.30994	2.940000	0.35661	0.756000	0.94297	0.037000	0.20830	0.169000	0.23327	0.995000	0.73285	0.7322:0.0:0.2678:0.0	7.463	0.26476	259	0.89842	.;.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1774.33	75	chr13	77618018	.	A	G	1774.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.707;DP=1811;ExcessHet=0;FS=4.52;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-1.118;SOR=0.43	GT:AD:DP:GQ:PL	0/1:97,75:172:99:1788,0,2648	18	0	1	0
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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3438	1600.25	68	chr13	102738219	.	C	G	1600.25	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-5.612;DP=3603;ExcessHet=8.9063;FS=275.066;InbreedingCoeff=-0.4786;MLEAC=12;MLEAF=0.375;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=2.08;SOR=13.102	GT:AD:DP:GQ:PL	0/1:135,37:172:6:6,0,3362	5	0	11	3
chr13	110456941	110456941	-	GTG	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.783_784insCAC:p.Q261_G262insH	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	9.39e-05	0.0001	0.0001	0.0002	0.0001	0.0001	9.816e-05	8.405e-05	0.0002	0.0001	0.0004	0.0001	0.0001	0	0.0001	0.0001	0.0001	0.0009	0.0012	0.0010	0.0008	0.0011	0.0007	0.0007	0.0009	0.0008	0.0008	0	0.0006	0.0012	0.0005	0.0006	0	0.0011	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	391.29	33	chr13	110456941	.	C	CGTG	391.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.02;DP=971;ExcessHet=0;FS=5.616;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.18;MQRankSum=6.06;QD=6.63;ReadPosRankSum=-6.041;SOR=1.143	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,39:59:99:0|1:110456941_C_CGTG:405,0,698:110456941	18	0	1	0
chr13	110456942	110456942	-	GTCTGCGTGGGACCCCAGGCGTCGTGGGGCTGATGCCG	exonic	COL4A2-AS2	.	frameshift insertion	COL4A2-AS2:NM_001267044:exon5:c.782_783insCGGCATCAGCCCCACGACGCCTGGGGTCCCACGCAGAC:p.Q261Hfs*110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.183e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0002	0.0002	0.0001	0.0002	9.332e-05	6.997e-05	8.256e-05	5.324e-05	0.0002	0	0	0.0008	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	4038.4	29	chr13	110456942	.	C	CGTCTGCGTGGGACCCCAGGCGTCGTGGGGCTGATGCCG	4038.4	.	AC=1;AF=0.036;AN=28;BaseQRankSum=1.35;DP=963;ExcessHet=21.4373;FS=5.278;InbreedingCoeff=-0.5966;MLEAC=1;MLEAF=0.036;MQ=51.1;MQRankSum=1.28;QD=6.06;ReadPosRankSum=-3.45;SOR=1.073	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,39:59:99:0|1:110456941_C_CGTG:406,0,696:110456941	13	0	1	5
chr14	19434246	19434246	T	C	exonic	POTEG	.	nonsynonymous SNV	POTEG:NM_001005356:exon1:c.A44G:p.K15R	.	420	1082	20	0	0	20	0.00915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00355896652263	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs559699024	5.342e-05	0.0004	3.406e-05	7.299e-05	0.0006	4.349e-05	4.022e-05	0.0005	0.0004	2.99e-05	0	0	0	0	0	1.979e-05	8.298e-05	0.0006	9.198e-05	0.0003	7.714e-05	0.0001	0.0015	5.527e-05	4.364e-05	0.0007	0.0005	0	0	0.0001	0	0	0	0	5.885e-05	0.0005	0.0015	0.0	0.91255	D	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-0.62	0.18248	N	0.179	0.19325	-1.0026	0.29168	T	0.134	0.44700	T	6	0.08180854	0.13434	T	0.003559	0.08123	T	.	.	0.286	0.24440	0.0934897674506	0.08844	0.0023369445484234053	0.00216	.	.	0.582423329353	0.50426	T	0.004204	0.03611	T	-0.203433	0.20309	T	-0.529994	0.19287	T	0.0873784795403481	0.10904	T	0.789321	0.42944	T	0.13709721	0.31758	0.21321933	0.45823	0.13709721	0.31758	0.21321933	0.45822	-3.978	0.23473	T	.	.	0.091	0.13221	B	.	.	2.168976	0.27642	17.53	0.99304560410103992	0.58759	0.00664	0.02871	N	AEFI	0.034539	0.04297	N	-0.567450050669242	0.19940	1.047478	-0.854302654597756	0.13185	0.6825757	1.20765058704745E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.150000	0.16082	0.189000	0.15722	0.296000	0.18849	0.086000	0.22486	0.808000	0.27011	0.011000	0.09372	.	.	.	994	0.00715	.	.	.	.	.	.	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	1135.83	470	chr14	19434246	.	T	C	1135.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.229;DP=7004;ExcessHet=0.119;FS=0.958;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=33.45;MQRankSum=1.5;QD=1.06;ReadPosRankSum=-0.282;SOR=0.542	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:517,66:583:99:0|1:19434246_T_C:970,0,20292:19434246	17	0	2	0
chr14	20435274	20435274	C	G	exonic	KLHL33	.	nonsynonymous SNV	KLHL33:NM_001365790:exon2:c.G538C:p.D180H	.	616	898	8	0	0	8	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs374606404	0.0002	0.0002	0.0002	0.0003	0.0061	0.0002	0.0002	0.0052	0.0049	8.681e-05	0	0	0	0	0.0042	9.454e-05	0.0005	0.0061	0.0003	0.0003	0.0002	0.0005	0.0079	0.0003	0.0002	0.0059	0.0052	2.404e-05	0	0	0	0	0	0	0.0002	0	0.0079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.985615	0.40309	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017137319	0.00364	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019395	0.15458	T	.	.	.	.	.	.	.	.	.	0.754025	0.37642	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.34339	B	.;.	.;.	2.901008	0.38450	20.7	0.58449813018790864	0.05996	0.68304	0.33751	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.99989412893698	0.45129	0.166803	0.03914	0	0.060609	0.00678	0	0.182457	0.04408	0	0.075334	0.01956	0	0.220741	0.31357	4.64	3.73	0.41982	3.165000	0.50477	5.823000	0.50099	0.549000	0.26987	0.989000	0.36753	1.000000	0.68203	0.137000	0.19835	0.0:0.8284:0.1716:0.0	12.300	0.54191	946	0.12043	BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ 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	.	.	.	.	.	.	.	.	0.1	70.4	1	chr14	20435274	.	C	G	70.4	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-0.967;DP=46;ExcessHet=0;FS=0;InbreedingCoeff=0.1759;MLEAC=3;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	13	1	1	4
chr14	21081617	21081617	G	A	exonic	ARHGEF40	.	nonsynonymous SNV	ARHGEF40:NM_001278529:exon14:c.G607A:p.G203S,ARHGEF40:NM_001278530:exon14:c.G607A:p.G203S,ARHGEF40:NM_018071:exon14:c.G2749A:p.G917S	.	414	1106	2	0	0	2	0.000903342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.0211705450198	0.0017	0.000199681	0.0027	0.0003	0.0016	0	0.0055	0.0035	0.0039	0.0016	0.0020181	312	154602	rs201733631	0.0017	0.0017	0.0016	0.0019	0.0019	0.0017	0.0016	0.0017	0.0016	0.0001	0.0009	0.0003	0	0.0077	0.0012	0.0016	0.0014	0.0019	0.0021	0.0021	0.0021	0.0020	0.0034	0.0019	0.0018	0.0030	0.0029	0.0002	0	0.0001	0	0	0.0066	0	0.0034	0.0005	0.0010	0.28	0.15509	T	0.0	0.92824	D	0.921	0.51088	P	0.153	0.34292	B	0.000026	0.55875	D	0.000000	0.65133	0.30530	N	1.61	0.41143	L	4.55	0.01948	T	0.65	0.02332	N	0.515	0.54584	-0.8656	0.50856	T	0.004	0.01192	T	10	0.007643938	0.00174	T	0.021171	0.43897	T	0.163	0.42028	.	.	0.32306181527	0.31918	0.26922063904595595	0.26835	0.858213163411	0.68847	0.852758765221	0.90030	D	0.003082	0.02484	T	-0.467375	0.00883	T	-0.438861	0.28936	T	0.00887453946122677	0.00110	T	0.882912	0.60466	D	0.07179308	0.15922	0.089812376	0.21025	0.07179308	0.15922	0.089812376	0.21024	-3.692	0.19200	T	.	.	0.131	0.28290	B	.	.	4.113186	0.61418	24.3	0.99660596421688807	0.77883	0.95235	0.63939	D	AEFBI	0.384103	0.46536	N	-0.320902637279037	0.28356	1.563285	-0.177393707228005	0.32370	1.840926	0.999876802083593	0.44625	0.67177	0.52595	0	0.563428	0.19063	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	5.76	4.87	0.62877	3.182000	0.50611	11.923000	0.99841	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.0872:0.0:0.9128:0.0	10.734	0.45312	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	0.001012	0.005102	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1146.33	85	chr14	21081617	.	G	A	1146.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.84;DP=933;ExcessHet=0;FS=1.585;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=0.668;SOR=0.534	GT:AD:DP:GQ:PL	0/1:68,44:112:99:1160,0,1797	18	0	1	0
chr14	23042370	23042370	G	A	exonic	PSMB11	.	nonsynonymous SNV	PSMB11:NM_001099780:exon1:c.G145A:p.G49S	.	422	1087	12	1	0	14	0.00639854	.	.	.	702814	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.729	.	0.0044	0.00838658	0.0075	0.0010	0.0034	0.0227	0.0116	0.0080	0.0100	0.0027	0.0073608	1138	154602	rs34457782	0.0071	0.0071	0.0071	0.0071	0.0256	0.0070	0.0069	0.0243	0.0238	0.0011	0.0034	0.0037	0.0256	0.0135	0.0062	0.0069	0.0070	0.0022	0.0060	0.0060	0.0061	0.0058	0.0274	0.0057	0.0055	0.0238	0.0224	0.0014	0.0022	0.0045	0.0043	0.0274	0.0114	0.0136	0.0069	0.0090	0.0021	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	4.045	0.97016	H	-0.83	0.74159	T	-5.54	0.86149	D	0.919	0.92200	0.364	0.88549	D	0.482	0.80230	T	10	0.015518874	0.00326	T	.	.	.	0.729	0.90501	.	.	0.866298555364	0.86500	0.8804463649467902	0.88012	0.606206283353	0.55474	0.699628949165	0.67090	T	0.337988	0.70730	T	0.0627332	0.59955	T	0.334921	0.89713	D	0.0990738712007421	0.12255	T	0.999355	0.99761	D	0.8976179	0.91171	0.8813787	0.93659	0.8976179	0.91172	0.8813787	0.93659	-10.849	0.78823	D	.	.	0.567	0.67488	P	.	.	4.668839	0.74591	26.2	0.99871181506189666	0.94902	0.98998	0.89743	D	AEFDBI	0.877648	0.80243	D	0.948043336876363	0.93906	12.36122	0.840108728278102	0.92425	11.41898	0.999999999999999	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.4	5.4	0.77957	8.961000	0.92959	9.995000	0.83008	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.243000	0.23080	0.0:0.0:1.0:0.0	17.980	0.89060	798	0.45050	.	.	.	.	.	.	Likely benign	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	1	0	0.008560	0.005051	0.004076	0.002924	0.000000	0.008621	0.009146	0.015152	0.05263	3153.83	35	chr14	23042370	.	G	A	3153.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.39;DP=892;ExcessHet=0.119;FS=3.363;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=2.94;SOR=0.891	GT:AD:DP:GQ:PL	0/1:64,64:128:99:1676,0,1516	17	0	2	0
chr14	24131610	24131610	G	A	exonic	FITM1	.	nonsynonymous SNV	FITM1:NM_203402:exon1:c.G47A:p.R16Q	.	422	1099	1	0	0	1	0.000454752	.	.	.	2764485	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.00962164624698	.	.	0.0001	0.0001	0	0	0.0002	0.0002	0	0.0001	0.0001035	16	154602	rs375038109	5.285e-05	5.541e-05	5.461e-05	5.107e-05	0.0002	4.291e-05	3.966e-05	8.926e-05	7.085e-05	5.984e-05	0	3.858e-05	2.524e-05	0	0	5.044e-05	6.653e-05	0.0002	5.913e-05	5.91e-05	8.991e-05	2.689e-05	0.0004	3.077e-05	2.21e-05	7.276e-05	3.024e-05	4.825e-05	0	0	0.0003	0	0	0	5.88e-05	0	0.0004	0.242	0.17584	T	0.0	0.92824	D	0.003	0.11197	B	0.0	0.01387	B	0.001675	0.38326	N	0.096556	0.982109	0.24989	N	0	0.06538	N	.	.	.	-0.39	0.13611	N	0.109	0.09490	-1.0929	0.05066	T	0.077	0.30889	T	9	0.046046138	0.03747	T	0.009622	0.25153	T	0.025	0.05312	0.417	0.45709	0.276482976112	0.27267	0.5621039364419387	0.56137	0.202067841752	0.22620	0.471014738083	0.34820	T	0.020591	0.16185	T	-0.4421	0.01257	T	-0.57663	0.14848	T	0.041149090975523	0.03900	T	.	.	.	0.047989946	0.08294	0.05789073	0.10604	0.047989946	0.08294	0.05789073	0.10603	-5.167	0.38604	T	.	.	0.121	0.25199	B	.	.	1.599646	0.20451	14.75	0.99147806242676895	0.53709	0.07343	0.13364	N	AEFDBIJ	0.143927	0.26676	N	-0.730928990776665	0.15156	0.7613778	-0.639405774845815	0.18485	0.9876611	0.999974192951391	0.50053	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.6	2.55	0.29757	0.527000	0.22695	1.230000	0.25036	0.671000	0.69459	0.724000	0.28861	0.863000	0.27509	0.799000	0.37691	0.2268:0.0:0.7732:0.0	7.092	0.24470	893	0.26510	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	981.33	34	chr14	24131610	.	G	A	981.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=714;ExcessHet=0;FS=1.992;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.865;SOR=0.465	GT:AD:DP:GQ:PL	0/1:39,33:72:99:995,0,1115	18	0	1	0
chr14	24440849	24440849	C	T	exonic	SDR39U1	.	nonsynonymous SNV	SDR39U1:NM_001290292:exon4:c.G160A:p.V54I,SDR39U1:NM_001290293:exon4:c.G82A:p.V28I,SDR39U1:NM_001308075:exon4:c.G160A:p.V54I,SDR39U1:NM_020195:exon5:c.G406A:p.V136I	.	428	1080	14	0	0	14	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.207122279023	0.0020	0.00159744	0.0022	0.0002	0.0020	0.0001	0.0006	0.0033	0.0011	0.0012	0.0021669	335	154602	rs145788637	0.0022	0.0022	0.0021	0.0023	0.0087	0.0021	0.0021	0.0068	0.0061	0.0005	0.0017	0.0012	2.519e-05	0.0006	0.0087	0.0024	0.0025	0.0013	0.0019	0.0019	0.0019	0.0018	0.0029	0.0017	0.0016	0.0025	0.0023	0.0006	0	0.0029	0.0006	0	0.0011	0.0034	0.0028	0.0024	0.0006	0.027	0.52492	D	0.026	0.56192	D	0.997	0.90584	D	0.805	0.66185	P	0.000002	0.62929	D	0.058506	1	0.81001	D	.	.	.	-3.18	0.93111	D	-0.44	0.14588	N	0.416	0.45615	0.737	0.93629	D	0.817	0.93826	D	10	0.009403825	0.00212	T	0.207122	0.87076	D	0.249	0.55752	.	.	0.410734915765	0.40690	0.5117001049876125	0.51092	0.296933290066	0.32082	0.500692129135	0.38925	T	0.044031	0.28183	T	-0.117435	0.33543	T	0.0561152	0.73987	D	0.0470243884598374	0.04969	T	0.916808	0.78426	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.40246	B	.;.;.;.	.;.;.;.	4.619124	0.73326	26.0	0.99872630228971726	0.94989	0.93568	0.58573	D	AEFDBHCI	0.645438	0.62133	D	0.669163444638782	0.77613	6.70868	0.678643797607919	0.80760	7.371155	1.0	0.98316	0.722319	0.85440	0	0.696144	0.67643	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.74	5.74	0.90070	5.642000	0.67561	2.199000	0.31271	0.599000	0.40250	1.000000	0.71638	0.976000	0.30059	0.990000	0.65344	0.0:1.0:0.0:0.0	17.412	0.87380	804	0.43891	.;.;.;.	.	.	.	.	.	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	0.005035	0.005051	0.002717	0.000000	0.000000	0.008621	0.015244	0.003788	0.02632	1335.33	44	chr14	24440849	.	C	T	1335.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.275;DP=871;ExcessHet=0;FS=3.605;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.459;SOR=0.622	GT:AD:DP:GQ:PL	0/1:50,55:105:99:1349,0,1161	18	0	1	0
chr14	28767623	28767623	C	T	exonic	FOXG1	.	nonsynonymous SNV	FOXG1:NM_005249:exon1:c.C344T:p.A115V	Rett syndrome, congenital variant, Isolated cases	.	.	.	.	.	.	.	.	.	.	202811	Rett_syndrome,_congenital_variant|not_specified|FOXG1_disorder|FOXG1-related_disorder	MedGen:C3150705,OMIM:613454,Orphanet:3095|MedGen:CN169374|MONDO:MONDO:0100040,MedGen:CN297063|.	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.041	0.160934442859	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796052454	1.857e-05	2.121e-05	1.414e-05	2.325e-05	0.0004	1.236e-05	1.033e-05	0.0003	0.0002	0	0	0	0	0	0	0	0	0.0004	1.321e-05	1.313e-05	0	2.705e-05	0.0004	2.2e-06	8.2e-07	7.307e-05	3.035e-05	0	0	0	0	0	0	0	0	0	0.0004	0.041	0.41915	D	0.283	0.21478	T	0.004	0.12183	B	0.001	0.04355	B	0.097393	0.20029	U	0.241555	0.939086	0.26845	N	0.55	0.14455	N	0.88	0.46028	T	-0.52	0.16187	N	0.065	0.03726	-1.0530	0.13574	T	0.058	0.24502	T	10	0.05424416	0.05744	T	0.160934	0.84083	D	0.041	0.10877	0.339	0.32979	0.0401082797425	0.02173	0.1406874770316359	0.13991	.	.	0.928398609161	0.98894	D	0.290246	0.66302	T	-0.515447	0.00467	T	-0.619599	0.11216	T	0.0547764047570673	0.06319	T	0.452755	0.12846	T	0.05079285	0.09231	0.10856886	0.26155	0.05079285	0.09231	0.10856886	0.26155	-4.851	0.35179	T	.	.	0.100	0.16929	B	.	.	2.211460	0.28211	17.72	0.99559199111618513	0.71645	0.07583	0.13594	N	AEFDBCIJ	0.044850	0.07267	N	-0.728413929240244	0.15226	0.7654949	-0.660170508457343	0.17960	0.9573494	0.999995644365395	0.74766	0.59774	0.34471	0	0.657636	0.61667	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	2.85	1.81	0.24139	-0.675000	0.05327	0.727000	0.21057	0.410000	0.20643	0.000000	0.06391	0.030000	0.21233	0.982000	0.59238	0.0:0.7496:0.2504:0.0	8.160	0.30354	968	0.07033	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	146.33	38	chr14	28767623	.	C	T	146.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=540;ExcessHet=0;FS=2.187;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-0.228;SOR=1.371	GT:AD:DP:GQ:PL	0/1:9,6:15:99:160,0,226	18	0	1	0
chr14	32154655	32154655	G	A	exonic	ARHGAP5	.	nonsynonymous SNV	ARHGAP5:NM_001030055:exon7:c.G4216A:p.A1406T,ARHGAP5:NM_001173:exon7:c.G4213A:p.A1405T	.	435	1056	29	2	0	33	0.0153846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0153694515659	0.0063	0.00199681	0.0059	0.0013	0.0041	0	0.0003	0.0089	0.0077	0.0030	0.0055109	852	154602	rs112370244	0.0061	0.0061	0.0060	0.0062	0.0435	0.0060	0.0060	0.0391	0.0374	0.0017	0.0058	0.0395	2.522e-05	0.0004	0.0435	0.0059	0.0074	0.0030	0.0058	0.0058	0.0053	0.0063	0.0118	0.0055	0.0053	0.0104	0.0099	0.0011	0.0022	0.0118	0.0401	0	0.0007	0.0102	0.0070	0.0081	0.0021	0.005	0.65419	D	0.086	0.66756	T	0.941	0.54283	P	0.659	0.56828	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.18	0.29980	L	2.07	0.20387	T	-0.55	0.48184	N	0.641	0.65330	-1.1515	0.00981	T	0.065	0.26878	T	10	0.008331001	0.00189	T	0.015369	0.36062	T	0.174	0.44019	.	.	0.289831133145	0.28582	0.45581065080999983	0.45499	0.706561179263	0.61451	0.759489893913	0.75853	T	0.100563	0.40647	T	-0.327909	0.06271	T	-0.235834	0.51204	T	0.043290907243771	0.04291	T	0.739226	0.35772	T	0.3890804	0.59966	0.2727357	0.53187	0.3890804	0.59967	0.2727357	0.53186	-6.424	0.53440	T	.	.	0.415	0.60389	A	.;.;.;.;.;.	.;.;.;.;.;.	4.171003	0.62719	24.5	0.99916689200265718	0.98449	0.97396	0.74483	D	AEFGBI	0.617148	0.60344	D	0.497245363721527	0.66928	5.014178	0.529147022595794	0.69960	5.435483	0.999999983845578	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.93	4.93	0.64394	5.072000	0.64217	11.853000	0.98135	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.575	0.91108	732	0.54084	.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein 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	0.024673	0.030303	0.023098	0.052632	0.050000	0.043103	0.003049	0.000000	0.02632	3058.33	37	chr14	32154655	.	G	A	3058.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=887;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=0.273;SOR=0.671	GT:AD:DP:GQ:PL	0/1:121,111:232:99:3072,0,3193	18	0	1	0
chr14	55062858	55062858	C	T	exonic	MAPK1IP1L	.	nonsynonymous SNV	MAPK1IP1L:NM_144578:exon3:c.C259T:p.P87S	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00366652694217	.	.	0.0001	0	8.639e-05	0	0	0	0.0011	0.0008	0.0001164	18	154602	rs750233436	4.994e-05	4.994e-05	2.995e-05	7.013e-05	0.0005	4.059e-05	3.734e-05	0.0004	0.0003	0	0.0002	0.0002	0	0	0.0002	6.295e-06	0.0001	0.0005	5.257e-05	5.253e-05	5.139e-05	5.38e-05	0.0008	2.557e-05	1.83e-05	0.0003	0.0002	0	0	0	0	0	0	0	5.879e-05	0	0.0008	0.015	0.52492	D	0.052	0.47581	T	0.665	0.41045	P	0.347	0.42698	B	0.001734	0.38161	N	0.119911	0.872691	0.35594	D	1.04	0.26193	L	.	.	.	-6.94	0.93440	D	0.3	0.33904	-0.6934	0.60749	T	0.172	0.51389	T	9	0.11027491	0.20606	T	0.003667	0.08464	T	0.133	0.36157	.	.	0.429091045357	0.42525	0.32783587670109804	0.32696	0.152792936813	0.17245	0.602920114994	0.53317	T	0.228833	0.59449	T	-0.254676	0.13530	T	-0.236009	0.51187	T	0.116941251987873	0.14127	T	0.765923	0.39354	T	0.46268436	0.64838	0.39471582	0.64158	0.46268436	0.64839	0.39471582	0.64158	-3.465	0.15945	T	.	.	0.073	0.04847	B	.;.	.;.	3.240181	0.44223	21.9	0.99915242407495519	0.98379	0.84515	0.43597	D	AEFGBCI	0.279996	0.39392	N	0.253296686760706	0.53802	3.547663	0.352809450802149	0.58677	4.039679	0.999996229501952	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.2	5.2	0.71720	2.820000	0.47757	4.901000	0.45859	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	17.100	0.86523	887	0.27948	.;.	.	.	.	.	.	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1428.33	34	chr14	55062858	.	C	T	1428.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=731;ExcessHet=0;FS=7.451;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.29;SOR=1.342	GT:AD:DP:GQ:PL	0/1:59,52:111:99:1442,0,1583	18	0	1	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	2170.86	43	chr14	58213644	.	T	C	2170.86	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.448;DP=1186;ExcessHet=25.4433;FS=260.724;InbreedingCoeff=-0.7123;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.37;SOR=11.67	GT:AD:DP:GQ:PL	0/1:49,19:68:99:173,0,1113	3	0	16	0
chr14	58365301	58365301	G	A	splicing	ARID4A	NM_023001:exon20:c.3211+1G>A;NM_023000:exon20:c.3211+1G>A;NM_002892:exon20:c.3211+1G>A	.	.	.	431	1077	13	1	0	15	0.00691563	1.0000	0.932	.	265402	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0048	0.00199681	0.0041	0.0016	0.0017	0	0.0036	0.0059	0.0035	0.0028	0.0042755	661	154602	rs62621193	0.0058	0.0058	0.0059	0.0057	0.0116	0.0057	0.0057	0.0094	0.0086	0.0013	0.0019	0.0098	0	0.0038	0.0116	0.0066	0.0051	0.0029	0.0037	0.0037	0.0041	0.0032	0.0060	0.0034	0.0033	0.0055	0.0053	0.0010	0	0.0022	0.0081	0.0002	0.0034	0.0034	0.0060	0.0005	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0639939	0.60112	T	0.327108	0.89389	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	6.550151	0.95389	35	0.98911125578790615	0.48381	0.99635	0.98202	D	AEFBI	.	.	.	1.1821638468762	0.99370	22.22698	1.03610099662319	0.99211	21.24358	0.999999999820252	0.74766	0.163922	0.03765	0	0.156668	0.03792	0	0.125526	0.03468	0	0.117559	0.03655	0	0.983059	0.89644	5.37	5.37	0.76949	8.494000	0.90314	11.754000	0.95474	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.092	0.93212	875	0.30485	.;.;.;.	.	.	.	.	rs62621193	Uncertain significance	1	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	.	.	.	.	.	.	.	.	0.02632	619.33	35	chr14	58365301	.	G	A	619.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.03;DP=675;ExcessHet=0;FS=1.399;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=-1.19;SOR=0.461	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,20:37:99:0|1:58365301_G_A:633,0,598:58365301	18	0	1	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4412	2933.03	148	chr14	64158707	.	T	C	2933.03	.	AC=15;AF=0.441;AN=34;BaseQRankSum=-3.339;DP=2339;ExcessHet=20.8569;FS=186.487;InbreedingCoeff=-0.7246;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=0.532;SOR=11.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,27:118:76:.:.:76,0,1949:.	2	0	15	2
chr14	64225336	64225336	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_182910:exon9:c.G1100A:p.R367Q,SYNE2:NM_182913:exon11:c.G1481A:p.R494Q,SYNE2:NM_015180:exon115:c.G20468A:p.R6823Q,SYNE2:NM_182914:exon116:c.G20534A:p.R6845Q	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	3030529	not_specified|Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant	MedGen:CN169374|MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00927085199272	.	.	2.493e-05	0	0	0	0	4.543e-05	0	0	1.94e-05	3	154602	rs777915067	2.463e-05	2.463e-05	2.723e-05	2.2e-05	3.147e-05	1.803e-05	1.6e-05	2.285e-05	2.022e-05	2.987e-05	0	0	0	0	0	3.147e-05	0	0	2.63e-05	2.627e-05	2.571e-05	2.691e-05	4.83e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.83e-05	0	0	0	0	0	0	1.47e-05	0.0005	0	0.263	0.17701	T	0.858	0.24621	T	0.083	0.26290	B	0.02	0.19048	B	0.622645	0.05765	N	1.273790	0.998194	0.22395	N	0.425	0.12573	N	0.67	0.52187	T	-1.95	0.47852	N	0.057	0.10198	-1.0295	0.20616	T	0.068	0.28013	T	10	0.05176598	0.05109	T	0.009271	0.24343	T	0.035	0.08770	0.24	0.17218	0.166414681773	0.16258	0.2689681058159678	0.26809	0.056727989804	0.06270	0.20873901248	0.00759	T	0.104338	0.41381	T	-0.281313	0.10528	T	-0.531805	0.19107	T	0.0814316720473113	0.10170	T	0.756224	0.37950	T	0.032103226	0.03173	0.03349358	0.02253	0.032103226	0.03173	0.03349358	0.02252	-4.822	0.39114	T	.	.	0.084	0.11941	B	.;.;.;.;.	.;.;.;.;.	1.115169	0.15006	11.51	0.89675701245418127	0.19003	0.01656	0.05313	N	AEFGBI	0.032122	0.03569	N	-0.972412684014414	0.09196	0.4342419	-0.931797034660495	0.11345	0.5774434	0.936704231669093	0.27266	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.99	1.41	0.21461	0.250000	0.18007	-0.151000	0.11419	0.676000	0.76740	0.025000	0.20085	0.000000	0.08366	0.057000	0.15750	0.4843:0.0:0.5157:0.0	7.021	0.24095	649	0.63102	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1509.33	40	chr14	64225336	.	G	A	1509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.06;DP=777;ExcessHet=0;FS=0.716;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.997;SOR=0.61	GT:AD:DP:GQ:PL	0/1:57,54:111:99:1523,0,1304	18	0	1	0
chr14	67805304	67805304	C	A	exonic	ZFYVE26	.	nonsynonymous SNV	ZFYVE26:NM_015346:exon8:c.G1184T:p.G395V	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	0	1466	55	1	0	57	0.0190699	0	0	.	186196	ZFYVE26-related_disorder|not_provided|Hereditary_spastic_paraplegia_15|not_specified|Hereditary_spastic_paraplegia|Spastic_paraplegia	.|MedGen:C3661900|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700,Orphanet:100996|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.055	0.0153934194612	0.0027	0.00319489	0.0037	0.0008	0.0018	0	0.0008	0.0039	0.0045	0.0088	0.0035769	553	154602	rs35512910	0.0035	0.0035	0.0032	0.0037	0.0170	0.0034	0.0033	0.0143	0.0133	0.0006	0.0022	0.0018	0	0.0005	0.0170	0.0033	0.0045	0.0090	0.0027	0.0027	0.0026	0.0028	0.0071	0.0025	0.0024	0.0052	0.0046	0.0007	0	0.0045	0.0012	0	0	0.0034	0.0039	0.0066	0.0071	0.222	0.22746	T	0.011	0.64786	D	0.045	0.21781	B	0.122	0.32387	B	0.009491	0.30337	N	0.362779	0.959685	0.38140	D	.	.	.	1.86	0.26588	T	-0.13	0.08971	N	0.165	0.32148	-1.0731	0.08745	T	0.038	0.16505	T	10	0.0025664866	0.00039	T	0.015393	0.36094	T	0.055	0.15663	.	.	0.227934060464	0.22382	0.16169291788472615	0.16090	0.205046829069	0.22922	0.395783305168	0.24482	T	0.007186	0.06605	T	-0.545574	0.00310	T	-0.550483	0.17280	T	0.00825396560210703	0.00099	T	0.391661	0.09743	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.15385	B	.;.	.;.	1.940681	0.24650	16.47	0.93319764922611348	0.23040	0.90446	0.51628	D	AEFGBI	0.377002	0.46094	N	-0.506721545602045	0.21862	1.163319	-0.299626435153439	0.28111	1.564814	0.928976482814212	0.26950	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	4.75	0.59954	1.480000	0.35072	4.234000	0.42669	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.1357:0.0:0.8643	10.034	0.41291	182	0.92924	.;.	.	.	.	.	.	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	0.006042	0.000000	0.004076	0.002924	0.050000	0.000000	0.009146	0.007576	0.1053	4325.43	33	chr14	67805304	.	C	A	4325.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.475;DP=952;ExcessHet=0.7564;FS=3.215;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=0.662;SOR=0.777	GT:AD:DP:GQ:PL	0/1:71,46:117:99:1102,0,2002	15	0	4	0
chr14	69054884	69054884	G	A	exonic	DCAF5	.	nonsynonymous SNV	DCAF5:NM_001284206:exon9:c.C1799T:p.A600V,DCAF5:NM_001284207:exon9:c.C1556T:p.A519V,DCAF5:NM_003861:exon9:c.C1802T:p.A601V	.	433	1076	12	1	0	14	0.00646353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0222368397432	0.0002	0.000399361	0.0009	0	8.637e-05	0.0002	0	0.0004	0.0011	0.0047	0.0007697	119	154602	rs138177045	0.0004	0.0004	0.0003	0.0006	0.0045	0.0004	0.0004	0.0041	0.0040	2.987e-05	2.236e-05	0	5.038e-05	0	0.0045	0.0001	0.0006	0.0045	0.0003	0.0003	0.0002	0.0003	0.0042	0.0002	0.0002	0.0028	0.0023	9.626e-05	0	0	0	0.0002	0	0.0068	0.0002	0.0005	0.0042	0.309	0.14111	T	0.296	0.20615	T	0.0	0.02946	B	0.0	0.01387	B	0.209469	0.16400	N	0.587434	1	0.08975	N	0.345	0.11182	N	-0.27	0.67367	T	-0.55	0.16799	N	0.018	0.00527	-0.9930	0.31827	T	0.143	0.46495	T	10	0.0044243336	0.00090	T	0.022237	0.45108	T	0.125	0.34456	.	.	0.102598925029	0.09809	0.08701831296950793	0.08634	0.207032986661	0.23145	0.256115347147	0.04440	T	0.024437	0.18465	T	-0.574157	0.00209	T	-0.596697	0.13091	T	0.0150448754977393	0.00324	T	0.587941	0.21519	T	0.01599687	0.00170	0.02888056	0.01166	0.01599687	0.00170	0.02888056	0.01166	-3.322	0.14022	T	.	.	0.064	0.03552	B	.;.;.;.	.;.;.;.	0.708183	0.10771	7.457	0.95040214092727904	0.26046	0.22655	0.21819	N	AEFDGBI	0.100752	0.20251	N	-0.895888754659229	0.10939	0.5253329	-0.900138240396138	0.12090	0.6199337	0.999982996662421	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.17	1.26	0.20534	1.862000	0.39088	3.501000	0.38778	-0.103000	0.15852	0.496000	0.26925	0.997000	0.33255	0.169000	0.20946	0.2784:0.1215:0.6001:0.0	6.388	0.20777	877	0.30165	.;.;.;.	.	.	.	.	.	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	0.004532	0.000000	0.001359	0.005848	0.000000	0.000000	0.009146	0.003788	0.02632	2100.33	34	chr14	69054884	.	G	A	2100.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=851;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=0.314;SOR=0.699	GT:AD:DP:GQ:PL	0/1:81,75:156:99:2114,0,2137	18	0	1	0
chr14	69572880	69572880	G	A	exonic	CCDC177	.	nonsynonymous SNV	CCDC177:NM_001271507:exon2:c.C743T:p.S248L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.675615123148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.27e-07	3.42e-06	0	1.964e-06	1.088e-06	0	0	.	.	0	0	0	0	0	0	1.088e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.36901	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.32	0.33002	L	1.25	0.36512	T	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.35437632	0.52223	T	0.675615	0.97303	D	.	.	.	.	0.556383890621	0.55297	0.35625288830234075	0.35539	.	.	0.918051242828	0.98171	D	0.022984	0.17626	T	-0.148903	0.28485	T	-0.451666	0.27513	T	.	.	.	0.693931	0.30359	T	0.26104587	0.49162	0.27567536	0.53506	0.26104587	0.49162	0.27567536	0.53505	-4.725	0.33705	T	.	.	0.642	0.70593	P	.	.	5.026528	0.83571	28.1	0.96326997884642895	0.29433	0.94782	0.62311	D	AEFDBCI	0.652481	0.62586	D	.	.	.	.	.	.	0.999999999991553	0.74766	0.676563	0.55306	0	0.563428	0.19063	0	0.673471	0.61138	0	0.554799	0.18163	0	.	.	4.47	4.47	0.53770	3.053000	0.49592	11.364000	0.92594	0.579000	0.29447	0.996000	0.39380	1.000000	0.68203	0.948000	0.49324	0.0:0.0:1.0:0.0	16.948	0.86105	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	.	.	.	.	.	.	.	.	0.02632	1968.33	40	chr14	69572880	.	G	A	1968.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.721;DP=908;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.872;SOR=0.702	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,80:138:99:0|1:69572870_C_T:1982,0,1419:69572870	18	0	1	0
chr14	70977752	70977752	C	T	exonic	PCNX1	.	nonsynonymous SNV	PCNX1:NM_001308160:exon6:c.C1415T:p.P472L,PCNX1:NM_014982:exon6:c.C1415T:p.P472L	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00525093213499	.	.	1.65e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs781694212	8.893e-06	8.893e-06	6.806e-06	1.1e-05	0.0003	4.96e-06	3.82e-06	6.092e-05	3.272e-05	0	2.236e-05	0	0	0	0.0003	1.799e-06	0	9.275e-05	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	0.036	0.54683	D	0.478	0.15842	T	0.0	0.02946	B	0.0	0.01387	B	0.673297	0.10322	N	0.848182	1	0.08975	N	0	0.06538	N	3.43	0.10196	T	-0.8	0.31375	N	0.082	0.09349	-0.9402	0.42584	T	0.016	0.06473	T	10	0.07330608	0.11057	T	0.005251	0.13402	T	0.068	0.19811	0.172	0.07774	0.043077524339	0.03247	0.14209192975241083	0.14132	0.104667754048	0.11842	0.217302426696	0.01160	T	0.016267	0.13477	T	-0.468269	0.00871	T	-0.673744	0.07371	T	0.0364330778314956	0.03056	T	0.825817	0.48860	T	0.028944554	0.02311	0.033205923	0.02177	0.028944554	0.02311	0.033205923	0.02176	-3.261	0.13239	T	.	.	0.063	0.04159	B	.;.	.;.	0.413399	0.07843	4.539	0.91619077432830809	0.20904	0.59158	0.30838	D	AEFBI	0.096633	0.19504	N	-1.00175106246941	0.08567	0.40219	-0.968949752822304	0.10486	0.5284778	0.999215968069297	0.38775	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	2.3	0.27735	1.168000	0.31468	-0.012000	0.13046	0.597000	0.34315	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.1304:0.6185:0.2511:0.0	11.701	0.50835	773	0.48803	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1713.33	33	chr14	70977752	.	C	T	1713.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=749;ExcessHet=0;FS=1.445;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=0.393;SOR=0.632	GT:AD:DP:GQ:PL	0/1:57,61:118:99:1727,0,1564	18	0	1	0
chr14	71108846	71108846	G	A	exonic	PCNX1	.	nonsynonymous SNV	PCNX1:NM_001308160:exon32:c.G6211A:p.G2071S,PCNX1:NM_014982:exon34:c.G6544A:p.G2182S	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.0153057235005	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs775426657	3.352e-05	3.352e-05	3.675e-05	3.025e-05	5.974e-05	2.566e-05	2.312e-05	3.257e-05	2.918e-05	5.974e-05	0	0	0	0	0	4.227e-05	0	0	7.227e-05	7.223e-05	8.991e-05	5.38e-05	0.0002	3.971e-05	3.127e-05	7.891e-05	5.587e-05	0.0002	0	6.544e-05	0	0	0	0	4.41e-05	0	0	0.106	0.29688	T	0.611	0.07666	T	0.999	0.77913	D	0.791	0.57754	P	0.000441	0.44522	D	0.192576	0.999795	0.51968	D	1.04	0.26193	L	3.41	0.09356	T	0.26	0.04776	N	0.679	0.68603	-1.0917	0.05254	T	0.044	0.18783	T	10	0.5717925	0.65360	D	0.015306	0.35967	T	0.235	0.53788	.	.	0.134007934775	0.12933	0.5079168575446802	0.50713	0.455785351285	0.45246	0.41775983572	0.27529	T	0.014302	0.12203	T	-0.227202	0.17020	T	-0.382608	0.35417	T	0.333375304937363	0.26360	T	0.89741	0.64114	D	0.04127465	0.06047	0.086481944	0.20039	0.04127465	0.06047	0.086481944	0.20039	-2.471	0.05586	T	.	.	0.063	0.01534	B	.;.	.;.	3.128290	0.42264	21.5	0.99721972824063776	0.82125	0.99103	0.91270	D	AEFDGBI	0.810795	0.73395	D	0.364345202538977	0.59500	4.130041	0.391689059795638	0.61053	4.300062	0.999999999999206	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	7.109000	0.76703	5.102000	0.47443	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.0:1.0:0.0	20.191	0.98231	872	0.31118	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	3194.33	35	chr14	71108846	.	G	A	3194.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.71;DP=897;ExcessHet=0;FS=2.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.43;SOR=0.794	GT:AD:DP:GQ:PL	0/1:145,124:269:99:3208,0,3488	18	0	1	0
chr14	75732398	75732398	A	G	exonic	TTLL5	.	nonsynonymous SNV	TTLL5:NM_015072:exon13:c.A1103G:p.N368S	Cone-rod dystrophy 19, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.0725481243937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.858e-07	6.843e-06	1.365e-06	0	9.015e-07	0	0	.	.	0	0	0	0	0	0	9.015e-07	0	0	6.587e-06	6.574e-06	1.288e-05	0	2.419e-05	0	0	.	.	2.419e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.014	0.63918	D	1.0	0.90584	D	0.997	0.88582	D	0.000011	0.62929	D	0.176387	0.999708	0.81001	D	4.42	0.98718	H	2.06	0.20523	T	-4.65	0.79399	D	0.875	0.90476	-0.0942	0.80232	T	0.279	0.65089	T	10	0.95966333	0.95361	D	0.072548	0.71561	D	0.569	0.82460	0.864	0.95995	0.521601224155	0.51804	0.8486780619406258	0.84828	0.346978378761	0.36595	0.690796256065	0.65821	T	0.329289	0.69961	T	0.0152819	0.53744	T	-0.215825	0.53137	T	0.99742032626122	0.91524	D	0.985401	0.95770	D	0.8677989	0.88688	0.8547836	0.91826	0.8677989	0.88689	0.8547836	0.91827	-12.213	0.85873	D	0.6608496746178677	0.73432	0.968	0.89634	P	.;.	.;.	4.867731	0.79722	27.2	0.99903310516497223	0.97426	0.97447	0.74808	D	AEFGBI	0.838717	0.75620	D	1.06409203593044	0.97410	16.08099	0.963155181042028	0.97779	16.74939	0.999999705018073	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.85	5.85	0.93663	8.189000	0.89663	11.211000	0.89399	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	13.752	0.62397	747	0.52260	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	198.33	33	chr14	75732398	.	A	G	198.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.801;DP=730;ExcessHet=0;FS=75.592;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=0.39;SOR=5.889	GT:AD:DP:GQ:PL	0/1:83,18:101:99:212,0,3208	18	0	1	0
chr14	75732400	75732400	C	T	exonic	TTLL5	.	nonsynonymous SNV	TTLL5:NM_015072:exon13:c.C1105T:p.L369F	Cone-rod dystrophy 19, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0104308426716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.841e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.058	0.47097	T	0.929	0.56408	P	0.748	0.62758	P	0.000075	0.52346	D	0.176070	0.999988	0.81001	D	1.715	0.44382	L	3.12	0.08106	T	-3.72	0.70793	D	0.541	0.62018	-1.2194	0.00054	T	0.046	0.19760	T	10	0.53166413	0.63218	D	0.010431	0.26958	T	0.247	0.55478	0.643	0.78010	0.304760801415	0.30091	0.4280156079802924	0.42718	0.108449285946	0.12232	0.642384469509	0.58903	T	0.152919	0.49354	T	-0.00925248	0.50371	T	-0.251067	0.49712	T	0.98404586315155	0.75491	D	0.966503	0.92108	D	0.56298214	0.70674	0.5057473	0.71433	0.56298214	0.70676	0.5057473	0.71434	-12.301	0.86286	D	0.6512595278090534	0.72342	0.978	0.92685	P	.;.	.;.	4.806953	0.78165	26.8	0.99901149163747416	0.97275	0.93386	0.58078	D	AEFGBI	0.524821	0.54785	D	0.607778511166604	0.73665	6.003527	0.658907069635139	0.79274	7.048224	0.999999996251249	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.85	5.85	0.93663	5.248000	0.65242	7.669000	0.64672	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.076	0.86461	747	0.52260	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	155.33	33	chr14	75732400	.	C	T	155.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.536;DP=729;ExcessHet=0;FS=56.963;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=0.804;SOR=5.279	GT:AD:DP:GQ:PL	0/1:83,10:96:99:169,0,3340	18	0	1	0
chr14	88186085	88186085	C	T	exonic	KCNK10	.	nonsynonymous SNV	KCNK10:NM_021161:exon7:c.G1067A:p.R356Q,KCNK10:NM_138317:exon7:c.G1082A:p.R361Q,KCNK10:NM_138318:exon7:c.G1082A:p.R361Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0672014208927	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	1.165e-05	1.163e-05	1.636e-05	6.888e-06	1.529e-05	7.1e-06	5.8e-06	9.32e-06	7.62e-06	0	0	0	0	0	0	1.529e-05	0	0	6.571e-06	6.567e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.009	0.72154	D	0.03	0.54541	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.895	0.50365	L	1.87	0.24085	T	-1.38	0.34992	N	0.598	0.73735	-0.9661	0.37994	T	0.154	0.48498	T	10	0.5847863	0.66049	D	0.067201	0.70098	D	0.181	0.45247	0.448	0.50793	0.841867993154	0.84036	0.8821084186382359	0.88178	1.27774408166	0.82447	0.824994802475	0.85796	D	0.013926	0.11951	T	0.0632996	0.60027	T	-0.146851	0.59523	T	0.953217446804047	0.63974	D	0.969603	0.89085	D	0.3329631	0.55712	0.25692624	0.51400	0.3329631	0.55712	0.25692624	0.51399	-9.591	0.72231	D	.	.	0.819	0.78186	P	.;.;.	.;.;.	5.432486	0.90832	32	0.99937068285316621	0.99661	0.98410	0.82490	D	AEFBI	0.942235	0.94655	D	0.804129648384711	0.86363	8.861625	0.810283645641501	0.90501	10.43538	0.999999999999968	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.75	5.75	0.90390	7.885000	0.85782	7.583000	0.61020	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:1.0:0.0:0.0	18.941	0.92578	884	0.28482	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	50.33	54	chr14	88186085	.	C	T	50.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.38;DP=765;ExcessHet=0;FS=62.945;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=-0.557;SOR=4.97	GT:AD:DP:GQ:PL	0/1:45,11:56:64:64,0,1048	18	0	1	0
chr14	92652445	92652445	A	C	exonic	RIN3	.	nonsynonymous SNV	RIN3:NM_001319987:exon5:c.A1171C:p.I391L,RIN3:NM_024832:exon6:c.A1396C:p.I466L	.	421	1036	60	5	0	70	0.0326797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00309365121416	0.0025	0.00299521	0.0036	0.0002	0.0029	0.0001	0.0002	0.0036	0.0033	0.0093	0.0005563	86	154602	rs139248637	0.0029	0.0029	0.0025	0.0033	0.0260	0.0028	0.0028	0.0226	0.0213	0.0004	0.0020	0.0085	0	0.0002	0.0260	0.0023	0.0039	0.0106	0.0024	0.0024	0.0024	0.0024	0.0077	0.0022	0.0021	0.0057	0.0051	0.0004	0	0.0018	0.0115	0	0.0002	0.0136	0.0033	0.0061	0.0077	0.422	0.09776	T	0.704	0.05642	T	0.001	0.07471	B	0.001	0.04355	B	0.190221	0.03245	N	1.726180	1	0.08975	N	1.7	0.43825	L	3.48	0.05130	T	-0.4	0.13805	N	0.138	0.17553	-0.9801	0.34979	T	0.009	0.03448	T	10	0.004621327	0.00096	T	0.003094	0.06696	T	0.045	0.12272	.	.	0.158396225186	0.15383	0.07307677932850949	0.07244	0.267599257895	0.29301	0.362659394741	0.19772	T	9.89E-4	0.05002	T	-0.684917	0.00045	T	-0.74865	0.03539	T	0.00979248961840315	0.00129	T	0.549145	0.18877	T	0.091709405	0.21496	0.053237252	0.08929	0.091709405	0.21496	0.053237252	0.08928	-6.483	0.50155	T	.	.	0.086	0.37501	B	.;.	.;.	0.208994	0.05926	2.368	0.79575064024098185	0.12804	0.03045	0.07938	N	AEFDGBHCI	0.063993	0.12399	N	-1.05714071227082	0.07448	0.3460229	-1.07116832256243	0.08271	0.405983	0.999999968999082	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.22	-3.16	0.04897	-0.702000	0.05171	0.316000	0.17134	-0.113000	0.14837	0.154000	0.23713	0.652000	0.25970	0.297000	0.24428	0.1825:0.2771:0.438:0.1024	4.308	0.10399	840	0.37365	.;.	.	.	.	.	.	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	0.017137	0.000000	0.009511	0.023392	0.050000	0.017241	0.027439	0.018939	0.07895	4196.79	41	chr14	92652445	.	A	C	4196.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.74;DP=1089;ExcessHet=0.3672;FS=0.785;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-1.086;SOR=0.747	GT:AD:DP:GQ:PL	0/1:71,52:123:99:1279,0,1992	16	0	3	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	10250.8	91	chr14	94497802	.	C	T	10250.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.403;DP=2518;ExcessHet=31.086;FS=244.116;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.62;ReadPosRankSum=0.296;SOR=13.49	GT:AD:DP:GQ:PL	0/1:90,38:128:99:251,0,1974	1	0	17	1
chr14	104949912	104949912	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5239C:p.D1747H,AHNAK2:NM_138420:exon7:c.G5539C:p.D1847H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0145780778284	.	.	3.358e-05	0.0002	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs778258861	8.318e-06	1.034e-05	5.519e-06	1.114e-05	0.0002	4.44e-06	3.5e-06	4.908e-05	3.165e-05	6.005e-05	0	0	0.0001	0	0.0002	9.112e-07	0	3.509e-05	4.081e-05	3.996e-05	3.983e-05	4.184e-05	0.0002	1.765e-05	1.162e-05	3.357e-05	1.987e-05	0.0001	0	0	0	0.0002	0	0	0	0.0005	0	0.427	0.09629	T	0.252	0.23570	T	1.0	0.90584	D	0.964	0.71005	D	.	.	.	.	1	0.81001	D	1.5	0.37844	L	4.38	0.02255	T	-1.15	0.29525	N	0.189	0.20660	-1.0657	0.10386	T	0.021	0.09009	T	9	0.17626292	0.32601	T	0.014578	0.34790	T	0.104	0.29647	.	.	0.101711395817	0.09552	0.019053011128951334	0.01859	.	.	0.249059841037	0.03669	T	0.02148	0.16719	T	-0.362985	0.03964	T	-0.577033	0.14811	T	0.11829027181803	0.14262	T	0.756624	0.37993	T	0.13751939	0.31838	0.11984194	0.28925	0.13751939	0.31838	0.11984194	0.28924	-9.067	0.68127	D	.	.	0.321	0.54565	B	.	.	2.211177	0.28211	17.72	0.9604758452470451	0.28552	0.34578	0.25101	N	AEFBI	.	.	.	-0.0280957209580275	0.40586	2.412791	-0.203325002943583	0.31415	1.777762	0.409974317370906	0.20203	0.67177	0.52595	0	0.588015	0.36545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	4.12	4.12	0.47504	1.589000	0.36253	-0.062000	0.12412	0.548000	0.25860	0.495000	0.26917	0.000000	0.08366	0.004000	0.06068	0.0:1.0:0.0:0.0	13.971	0.63752	982	0.03397	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	16081.8	661	chr14	104949912	.	C	G	16081.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=5.92;DP=7093;ExcessHet=0.119;FS=0.525;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.23;MQRankSum=-12.21;QD=16.18;ReadPosRankSum=-0.333;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:298,227:525:99:0|1:104949883_T_A:8540,0,11744:104949883	17	0	2	0
chr14	105219298	105219298	G	A	exonic	BRF1	.	nonsynonymous SNV	BRF1:NM_001242786:exon13:c.C1033T:p.R345C	Cerebellofaciodental syndrome, Autosomal recessive	.	.	.	.	.	.	.	0	0.018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	.	0.000399361	4.678e-05	0.0001	0	0	0	5.053e-05	0.0013	0	5.82e-05	9	154602	rs587686408	4.301e-05	4.857e-05	4.669e-05	3.924e-05	0.0004	3.424e-05	3.108e-05	6.303e-05	3.534e-05	3.023e-05	0	0	0	0	0.0004	5.009e-05	3.365e-05	2.339e-05	6.563e-05	6.561e-05	5.138e-05	8.052e-05	0.0002	3.513e-05	2.613e-05	1.972e-05	1.124e-05	7.213e-05	0	6.534e-05	0	0.0002	0	0	5.879e-05	0.0005	0	0.044	0.41096	D	0.178	0.29639	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.11	0.08653	N	0.195	0.21449	-1.0247	0.22181	T	0.033	0.14334	T	7	0.025126696	0.00717	T	0.002945	0.06250	T	0.062	0.17934	.	.	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.528089	0.00394	T	-0.759671	0.03125	T	0.0111255795852281	0.00162	T	0.371663	0.08799	T	.	.	.	.	.	.	.	.	-3.998	0.23774	T	.	.	0.142	0.31151	B	.	.	-0.001499	0.04273	1.065	0.98244658251973715	0.39512	0.00277	0.01499	N	AEFBI	0.046703	0.07786	N	-1.62331855751688	0.01153	0.05008329	-1.72726384173151	0.01022	0.04582787	0.988963465516191	0.31682	0.562547	0.31514	0	0.653731	0.59785	0	0.578056	0.29568	0	0.714379	0.83352	0	.	.	2.01	-4.03	0.03752	-0.563000	0.06034	.	.	-0.194000	0.09177	0.000000	0.06391	.	.	0.000000	0.00833	0.2035:0.0:0.5111:0.2854	4.424	0.10920	946	0.12043	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	1962.83	33	chr14	105219298	.	G	A	1962.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.184;DP=736;ExcessHet=0.119;FS=8.966;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=0.652;SOR=0.255	GT:AD:DP:GQ:PL	0/1:34,47:81:99:1245,0,922	17	0	2	0
chr15	20534664	20534665	CT	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	434.18	45	chr15	20534664	.	CT	*	434.18	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.28;DP=1323;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.6889;MLEAC=14;MLEAF=0.389;MQ=51.72;MQRankSum=0.854;QD=0.68;ReadPosRankSum=-3.234;SOR=0.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,8:46:99:.:.:251,0,1542:.	4	0	14	1
chr15	20534666	20534686	CCCTTATCTTCTCCTCCTGCT	0	exonic	GOLGA6L6	.	.	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	434.55	45	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	*	434.55	.	AC=14;AF=0.412;AN=34;BaseQRankSum=0.882;DP=1318;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.441;MQ=51.07;MQRankSum=1.13;QD=0.68;ReadPosRankSum=-3.191;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,8:46:99:.:.:251,0,1542:.	3	0	14	2
chr15	20534693	20534693	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	327.06	45	chr15	20534693	.	T	*	327.06	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.078;DP=1294;ExcessHet=25.4433;FS=1.177;InbreedingCoeff=-0.7344;MLEAC=15;MLEAF=0.395;MQ=50.05;MQRankSum=0.956;QD=0.47;ReadPosRankSum=-1.583;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,8:46:99:.:.:251,0,1542:.	4	0	15	0
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	276.96	45	chr15	20534699	.	CCTCCTG	*	276.96	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.808;DP=1281;ExcessHet=25.4433;FS=1.176;InbreedingCoeff=-0.7274;MLEAC=15;MLEAF=0.395;MQ=40.86;MQRankSum=-1.387;QD=0.4;ReadPosRankSum=0.802;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,8:46:99:.:.:251,0,1542:.	4	0	15	0
chr15	20536401	20536401	G	C	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon7:c.C685G:p.Q229E	.	611	860	46	5	0	56	0.0315315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00125694464534	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1458486201	0.0079	0.0074	0.0076	0.0082	0.0382	0.0078	0.0077	0.0331	0.0311	0.0019	0.0161	0.0452	3.522e-05	0.0024	0.0382	0.0070	0.0131	0.0079	0.0122	0.0096	0.0120	0.0123	0.0362	0.0115	0.0113	0.0322	0.0307	0.0022	0.0019	0.0362	0.0658	0	0.0025	0.0330	0.0126	0.0347	0.0083	.	.	.	0.138	0.33780	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	.	.	.	.	.	.	0.083	0.05929	-1.0112	0.26541	T	0.023	0.09741	T	8	0.00540784	0.00119	T	0.001257	0.01708	T	.	.	.	.	0.0138822411134	0.00435	0.0049867945419221	0.00470	.	.	0.586864173412	0.51052	T	0.014193	0.12131	T	-0.237202	0.15708	T	-0.578501	0.14679	T	0.262614488601685	0.23428	T	0.546045	0.18695	T	0.16264509	0.36354	0.16305888	0.37845	0.16264509	0.36353	0.16305888	0.37844	-6.442	0.49836	T	.	.	0.110	0.21315	B	.	.	1.753451	0.22303	15.57	0.67537901567902892	0.08385	0.09628	0.15341	N	AEFI	0.050648	0.08872	N	-0.628359280263332	0.18096	0.9367552	-0.808476766559945	0.14290	0.7459121	1.09775152741156E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	1.635000	0.36747	3.018000	0.35990	0.345000	0.19837	0.971000	0.34370	0.996000	0.32793	0.008000	0.08271	.	.	.	1000	0.00083	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	2312.79	20	chr15	20536401	.	G	C	2312.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.585;DP=823;ExcessHet=0.3672;FS=3.284;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=47.94;MQRankSum=1.57;QD=7.79;ReadPosRankSum=1.26;SOR=0.892	GT:AD:DP:GQ:PL	0/1:32,35:67:99:873,0,611	16	0	3	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	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	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.9062	36371.9	254	chr15	22081297	.	T	C	36371.9	.	AC=29;AF=0.906;AN=32;BaseQRankSum=7.18;DP=2254;ExcessHet=0.0128;FS=82.112;InbreedingCoeff=0.2;MLEAC=32;MLEAF=1;MQ=39;MQRankSum=-9.429;QD=21.37;ReadPosRankSum=-0.973;SOR=4.312	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1325,120,0	0	13	3	3
chr15	22607800	22607800	C	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon18:c.G1723C:p.D575H	.	422	1046	50	4	0	58	0.0269767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1440398018	0.0008	0.0030	0.0006	0.0010	0.0050	0.0007	0.0007	0.0046	0.0044	0.0001	0.0012	0.0003	0.0005	0.0007	0.0003	0.0005	0.0006	0.0050	0.0021	0.0058	0.0020	0.0022	0.0033	0.0019	0.0018	0.0026	0.0023	0.0014	0	0.0033	0.0018	0.0031	0.0024	0	0.0023	0.0027	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	128.88	32	chr15	22607800	.	C	G	128.88	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.029;DP=331;ExcessHet=0.3672;FS=54.82;InbreedingCoeff=-0.0879;MLEAC=3;MLEAF=0.079;MQ=27.7;MQRankSum=-2.041;QD=2.22;ReadPosRankSum=0.174;SOR=5.279	GT:AD:DP:GQ:PL	0/1:8,2:10:23:23,0,245	16	0	3	0
chr15	23440328	23440328	C	0	exonic	GOLGA6L2	.	.	.	.	950	317	163	50	42	305	0.2932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	2540.04	96	chr15	23440328	.	C	*	2540.04	.	AC=4;AF=0.222;AN=18;BaseQRankSum=2.21;DP=1241;ExcessHet=10.3881;FS=19.119;InbreedingCoeff=-0.2418;MLEAC=7;MLEAF=0.389;MQ=56.9;MQRankSum=0;QD=8.79;ReadPosRankSum=1.22;SOR=1.549	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,5:33:85:0|1:23440319_CT_C:85,0,1119:23440319	5	0	4	10
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	44113.5	193	chr15	23440492	.	C	*	44113.5	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.78;DP=2930;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=19;MLEAF=0.5;MQ=58;MQRankSum=-0.314;QD=15.57;ReadPosRankSum=-0.294;SOR=0.315	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,80:135:99:.:.:5151,1893,2090:.	0	0	19	0
chr15	29726877	29726877	T	C	exonic	TJP1	.	nonsynonymous SNV	TJP1:NM_001330239:exon17:c.A2215G:p.M739V,TJP1:NM_001355013:exon17:c.A2227G:p.M743V,TJP1:NM_001355014:exon17:c.A2215G:p.M739V,TJP1:NM_001355015:exon17:c.A2215G:p.M739V,TJP1:NM_003257:exon17:c.A2215G:p.M739V,TJP1:NM_175610:exon17:c.A2215G:p.M739V,TJP1:NM_001301025:exon18:c.A2494G:p.M832V,TJP1:NM_001301026:exon18:c.A2227G:p.M743V,TJP1:NM_001355012:exon18:c.A2494G:p.M832V	.	434	1081	6	1	0	8	0.00368664	.	.	.	3345998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.402	0.0513901865445	.	.	2.484e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs747571925	1.095e-05	1.094e-05	8.167e-06	1.375e-05	0.0005	6.48e-06	5.24e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	2.698e-06	4.967e-05	8.115e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.005	0.72224	D	0.99	0.65571	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.11	0.58565	M	2.35	0.16217	T	-3.24	0.65171	D	0.638	0.68082	-0.8648	0.50915	T	0.147	0.47183	T	9	0.5533914	0.64382	D	0.05139	0.64643	D	0.402	0.71558	0.389	0.41115	0.501370866149	0.49774	0.829721668389469	0.82930	1.20171773198	0.80562	0.812649250031	0.83899	D	0.303143	0.67551	T	0.0403232	0.57090	T	0.022799	0.71811	D	0.802962362766266	0.46555	D	0.949005	0.80370	D	0.72712046	0.79561	0.46507773	0.68955	0.72712046	0.79562	0.46507773	0.68955	-14.333	0.94089	D	.	.	0.611	0.69345	P	.;.;.;.;.	.;.;.;.;.	4.304959	0.65759	24.9	0.99452290338130156	0.65325	0.98800	0.87016	D	AEFBI	0.920790	0.89328	D	0.719137828271329	0.80888	7.394968	0.656739056449338	0.79111	7.014324	0.999999999997347	0.74766	0.719381	0.83141	0	0.573888	0.26702	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.82	5.82	0.92740	7.925000	0.86993	7.905000	0.73745	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.192	0.81809	975	0.05339	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;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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1833.33	35	chr15	29726877	.	T	C	1833.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.23;DP=781;ExcessHet=0;FS=3.829;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.353;SOR=0.64	GT:AD:DP:GQ:PL	0/1:76,74:150:99:1847,0,1961	18	0	1	0
chr15	32804297	32804297	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon14:c.G3295C:p.E1099Q,FMN1:NM_001277313:exon18:c.G3964C:p.E1322Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0058766069349	.	.	3.594e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs773036224	1.411e-06	2.052e-06	0	2.855e-06	1.244e-05	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.192e-07	0	1.244e-05	6.579e-06	6.568e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.312	0.25255	T	0.063	0.45110	T	0.98	0.59353	D	0.824	0.59271	P	0.002107	0.37227	N	0.310922	.	.	.	1.32	0.33002	L	2.29	0.17113	T	-1.18	0.34596	N	0.291	0.41952	-1.0087	0.27323	T	0.056	0.23639	T	9	0.22612774	0.39459	T	0.005877	0.15310	T	0.074	0.21613	0.234	0.16305	0.572793788404	0.56946	0.15963293638142878	0.15884	0.144351179167	0.16299	0.587209939957	0.51101	T	0.051905	0.29011	T	-0.22785	0.16933	T	-0.565067	0.15904	T	0.819598972797394	0.47742	D	.	.	.	0.11430355	0.26985	0.10274673	0.24633	0.11430355	0.26985	0.10274673	0.24633	-7.631	0.58527	D	.	.	0.138	0.33179	B	.;.;.;.	.;.;.;.	4.542979	0.71428	25.7	0.98992301036751473	0.49963	0.91294	0.53244	D	AEFBI	0.486448	0.52561	N	0.396071171228634	0.61209	4.318915	0.416152429629404	0.62570	4.474724	0.999948950719699	0.47345	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.49	4.57	0.55860	3.400000	0.52341	5.994000	0.52377	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.849:0.0:0.151	10.408	0.43461	964	0.07719	Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;.;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 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	.	.	.	.	.	.	.	.	0.02632	400.33	33	chr15	32804297	.	C	G	400.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.766;DP=690;ExcessHet=0;FS=2.483;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.01;ReadPosRankSum=-2.012;SOR=0.715	GT:AD:DP:GQ:PL	0/1:30,20:50:99:414,0,762	18	0	1	0
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4091	5435.43	110	chr15	33066576	.	A	G	5435.43	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-0.723;DP=1826;ExcessHet=5.3738;FS=195.705;InbreedingCoeff=-0.52;MLEAC=12;MLEAF=0.545;MQ=60;MQRankSum=0;QD=5.75;ReadPosRankSum=0.903;SOR=10.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,21:104:99:0|1:33066576_A_G:575,0,3364:33066576	2	0	9	8
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4545	5964.23	102	chr15	33066577	.	C	G	5964.23	.	AC=10;AF=0.455;AN=22;BaseQRankSum=-1.706;DP=1809;ExcessHet=6.9875;FS=214.034;InbreedingCoeff=-0.5833;MLEAC=13;MLEAF=0.591;MQ=60;MQRankSum=0;QD=5.63;ReadPosRankSum=0.759;SOR=11.083	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,22:105:99:0|1:33066576_A_G:601,0,3361:33066576	1	0	10	8
chr15	33066579	33066579	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306C:p.E436Q	.	.	.	.	.	.	.	.	.	.	.	3676472	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2667	3466.35	104	chr15	33066579	.	C	G	3466.35	.	AC=8;AF=0.267;AN=30;BaseQRankSum=-4.77;DP=1876;ExcessHet=5.3738;FS=177.509;InbreedingCoeff=-0.4075;MLEAC=9;MLEAF=0.3;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=0.676;SOR=10.462	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,21:103:99:0|1:33066576_A_G:571,0,3331:33066576	7	0	8	4
chr15	33066580	33066580	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1305C:p.K435N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4091	3779.55	104	chr15	33066580	.	C	G	3779.55	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-3.599;DP=1781;ExcessHet=5.3738;FS=184.997;InbreedingCoeff=-0.52;MLEAC=12;MLEAF=0.545;MQ=60;MQRankSum=0;QD=4.06;ReadPosRankSum=0.608;SOR=10.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,21:103:99:0|1:33066576_A_G:571,0,3310:33066576	2	0	9	8
chr15	33662829	33662829	G	A	exonic	RYR3	.	nonsynonymous SNV	RYR3:NM_001036:exon35:c.G5299A:p.E1767K,RYR3:NM_001243996:exon35:c.G5299A:p.E1767K	.	1	1490	31	0	0	31	0.0102956	.	.	.	464844	not_provided|Epileptic_encephalopathy	MedGen:C3661900|Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.102	.	0.0020	0.0217652	0.0103	0.0065	0.0024	0.0019	0	0.0007	0.0033	0.0657	0.0092366	1428	154602	rs115321092	0.0045	0.0045	0.0029	0.0061	0.0591	0.0044	0.0044	0.0577	0.0571	0.0073	0.0023	0.0006	0.0009	1.875e-05	0.0137	0.0005	0.0065	0.0591	0.0044	0.0044	0.0034	0.0055	0.0667	0.0041	0.0040	0.0607	0.0584	0.0059	0	0.0018	0.0003	0.0021	0	0.0204	0.0007	0.0057	0.0667	0.324	0.13392	T	.	.	.	0.0	0.14655	B	0.002	0.10090	B	0.001534	0.38731	N	0.209134	0.949247	0.37644	D	1.845	0.48678	L	-0.66	0.72348	T	-2.06	0.47175	N	0.415	0.48042	-0.7699	0.56863	T	0.201	0.55709	T	10	0.002911806	0.00047	T	.	.	.	0.102	0.29158	.	.	.	.	0.3836759754911942	0.38282	0.205256797494	0.22944	0.510617077351	0.40309	T	0.40382	0.76046	T	-0.421719	0.01668	T	-0.331432	0.41309	T	0.0167800299287915	0.00433	T	0.79742	0.44372	T	0.21914956	0.44439	0.19626871	0.43349	0.21914956	0.44439	0.19626871	0.43348	-4.184	0.26519	T	.	.	0.078	0.06663	B	.;.;.;.;.	.;.;.;.;.	3.303543	0.45360	22.1	0.99673792313867215	0.78782	0.97066	0.72492	D	AEFI	0.700273	0.65734	D	0.00596074806607942	0.42126	2.532347	0.170316099802096	0.48227	3.041632	0.173261728016299	0.17767	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.11	5.11	0.69188	5.511000	0.66742	8.635000	0.77869	0.668000	0.69082	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	18.696	0.91562	931	0.16308	.;.;.;.;.	.	.	.	.	.	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	0.023666	0.020202	0.024457	0.029240	0.000000	0.034483	0.015244	0.026515	0.05263	5214.83	38	chr15	33662829	.	G	A	5214.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.02;DP=1084;ExcessHet=0.119;FS=0.763;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=1.41;SOR=0.638	GT:AD:DP:GQ:PL	0/1:102,87:189:99:2368,0,2780	17	0	2	0
chr15	41096253	41096253	G	C	exonic	INO80	.	nonsynonymous SNV	INO80:NM_017553:exon2:c.C58G:p.L20V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.499	0.230949694038	.	.	8.341e-06	0	0	0	0	1.513e-05	0	0	6.5e-06	1	154602	rs766496543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.07	0.43721	T	0.993	0.65571	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.755	0.45626	L	-3.11	0.92721	D	-0.97	0.25770	N	0.658	0.68255	0.770	0.94036	D	0.844	0.94774	D	10	0.575322	0.65547	D	0.23095	0.88253	D	0.499	0.78288	0.236	0.16608	0.661633646292	0.65880	0.5260119555163638	0.52525	0.310035681446	0.33317	0.780231118202	0.78962	T	0.05765	0.30625	T	0.170503	0.71171	D	0.00713946	0.70798	D	0.634292668284165	0.37796	D	0.927907	0.73422	D	0.27592942	0.50656	0.27308488	0.53225	0.27592942	0.50655	0.27308488	0.53224	-4.238	0.27298	T	.	.	0.140	0.33846	B	.;.;.	.;.;.	4.624555	0.73463	26.0	0.99802759949871023	0.88728	0.98127	0.79829	D	AEFDBCI	0.868620	0.78881	D	0.846005111031047	0.88879	9.747598	0.867441971670391	0.93991	12.42632	0.999999999923393	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	5.9	0.94952	9.602000	0.97623	11.835000	0.97647	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.272	0.98481	295	0.88218	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	303.08	34	chr15	41096253	.	G	C	303.08	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.902;DP=1127;ExcessHet=0.7564;FS=158.935;InbreedingCoeff=-0.1318;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=0.442;SOR=9.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,23:76:99:0|1:41096253_G_C:179,0,1389:41096253	14	0	4	1
chr15	42071882	42071882	C	A	exonic	PLA2G4D	.	nonsynonymous SNV	PLA2G4D:NM_178034:exon15:c.G1465T:p.G489C	.	430	1088	3	1	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	.	0.0003	0.00958466	0.0043	0.0003	0.0004	0.0537	0.0011	0.0002	0.0045	0.0015	0.0039262	607	154602	rs72489212	0.0019	0.0019	0.0019	0.0018	0.0549	0.0018	0.0018	0.0529	0.0522	0.0003	0.0011	0	0.0549	0.0009	0.0014	0.0001	0.0028	0.0013	0.0023	0.0023	0.0019	0.0026	0.0505	0.0021	0.0020	0.0455	0.0435	0.0003	0	0.0026	0	0.0505	0.0009	0	0.0001	0.0019	0.0012	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000006	0.62929	D	0.000000	0.999999	0.58761	D	3.785	0.95291	H	1.17	0.37910	T	-8.01	0.96554	D	0.961	0.97095	-0.5706	0.65990	T	0.072	0.29227	T	10	0.008841664	0.00200	T	.	.	.	0.628	0.85666	.	.	0.797061488228	0.79517	0.9137453322045859	0.91349	0.360229569722	0.37702	0.614315986633	0.54925	T	0.21475	0.57642	T	-0.0366905	0.46440	T	0.220082	0.84177	D	0.114536074424312	0.13887	T	0.961704	0.85587	D	0.986232	0.99546	0.96408415	0.99186	0.986232	0.99546	0.96408415	0.99186	-10.471	0.76680	D	.	.	0.56	0.67212	A	.	.	5.146772	0.86185	28.8	0.99753843527766184	0.84460	0.95112	0.63482	D	AEFDBI	0.695558	0.65419	D	0.733257981383359	0.81812	7.610797	0.617463632613257	0.76209	6.448786	0.999999997920332	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.65	4.65	0.57626	6.258000	0.72447	5.855000	0.50375	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	17.148	0.86651	64	0.97283	Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain|Lysophospholipase, catalytic 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	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1381.33	35	chr15	42071882	.	C	A	1381.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=745;ExcessHet=0;FS=5.246;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=-2.464;SOR=1.239	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,39:96:99:0|1:42071882_C_A:1395,0,2218:42071882	18	0	1	0
chr15	42087400	42087400	G	A	exonic	PLA2G4D	.	nonsynonymous SNV	PLA2G4D:NM_178034:exon3:c.C155T:p.S52L	.	429	1088	4	1	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	0.0005	0.00998403	0.0045	0.0010	0.0004	0.0556	0.0011	0.0002	0.0044	0.0016	0.0041203	637	154602	rs74977904	0.0019	0.0019	0.0020	0.0019	0.0560	0.0019	0.0018	0.0541	0.0533	0.0009	0.0012	0	0.0560	0.0009	0.0019	0.0001	0.0029	0.0015	0.0024	0.0024	0.0020	0.0029	0.0523	0.0022	0.0022	0.0472	0.0452	0.0007	0	0.0027	0	0.0523	0.0009	0	0.0001	0.0019	0.0012	0.001	0.78490	D	0.001	0.83351	D	0.001	0.07471	B	0.009	0.14300	B	0.001671	0.38326	N	0.166793	0.989345	0.24306	N	-0.75	0.01730	N	2.95	0.09635	T	-2.21	0.49684	N	0.332	0.37301	-0.9899	0.32626	T	0.002	0.00769	T	10	0.0042091906	0.00084	T	.	.	.	0.080	0.23350	.	.	0.419461527279	0.41563	0.46001490631854447	0.45919	0.0491442954324	0.05378	0.387166202068	0.23270	T	0.066961	0.33080	T	-0.608991	0.00128	T	-0.601988	0.12645	T	0.0567237871004125	0.06642	T	0.564244	0.19889	T	0.20394816	0.42488	0.23104917	0.48225	0.20394816	0.42488	0.23104917	0.48224	-7.534	0.57849	D	.	.	0.084	0.09481	B	.	.	2.300670	0.29439	18.12	0.99559290015869861	0.71645	0.81558	0.40937	D	AEFDGBI	0.202691	0.32926	N	-0.500254695641363	0.22072	1.176027	-0.32850772492777	0.27181	1.506532	0.999896016907731	0.45129	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.15	4.24	0.49486	1.815000	0.38620	4.982000	0.46469	0.671000	0.69459	0.979000	0.35152	1.000000	0.68203	0.017000	0.10941	0.0877:0.0:0.9123:0.0	11.025	0.46957	91	0.96221	C2 domain|C2 domain|C2 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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1568.33	35	chr15	42087400	.	G	A	1568.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.405;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.17;ReadPosRankSum=-1.04;SOR=0.627	GT:AD:DP:GQ:PL	0/1:34,63:97:99:1582,0,767	18	0	1	0
chr15	45106877	45106877	G	A	exonic	DUOX2	.	nonsynonymous SNV	DUOX2:NM_001363711:exon15:c.C1786T:p.P596S,DUOX2:NM_014080:exon15:c.C1786T:p.P596S	Thyroid dyshormonogenesis 6, Autosomal recessive	1	1508	12	1	0	14	0.00462046	.	.	.	873641	Thyroid_dyshormonogenesis_6|not_provided	MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.079	.	0.0002	0.00938498	0.0115	0.0005	0.0027	0	0	0.0001	0.0030	0.0563	0.0053363	825	154602	rs373790251	0.0031	0.0031	0.0016	0.0045	0.0508	0.0030	0.0029	0.0495	0.0490	0.0001	0	0	2.566e-05	0	0.0023	1.636e-05	0.0032	0.0508	0.0016	0.0016	0.0008	0.0024	0.0481	0.0014	0.0014	0.0430	0.0411	0.0002	0	6.533e-05	0	0	0	0	0	0.0009	0.0481	0.428	0.09600	T	0.416	0.14284	T	0.01	0.15535	B	0.017	0.18140	B	0.007831	0.31171	N	0.353495	0.995539	0.23266	N	2.125	0.59049	M	-1.95	0.85003	D	0.92	0.01573	N	0.412	0.45237	-0.9979	0.30507	T	0.114	0.40490	T	9	0.0051925182	0.00113	T	.	.	.	0.079	0.23065	.	.	0.860418312386	0.85907	0.3534901158262429	0.35263	0.103735805567	0.11741	0.270246207714	0.06172	T	0.018832	0.48430	T	-0.388666	0.02744	T	-0.293824	0.45372	T	0.00591628297152194	0.00065	T	0.908909	0.67748	D	0.0370762	0.04685	0.08642148	0.20022	0.04516105	0.07345	0.08642148	0.20021	-5.007	0.36916	T	0.19867786469457788	0.26316	0.093	0.13830	B	.;.	.;.	1.744282	0.22190	15.52	0.74999565230947007	0.10907	0.65193	0.32656	D	AEFDBI	0.248372	0.36879	N	-0.612444355669082	0.18569	0.9651273	-0.568781412310757	0.20309	1.093619	0.061507942830536	0.15233	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	4.99	0.638	0.16913	1.474000	0.35006	0.653000	0.20435	-0.153000	0.12021	0.812000	0.29879	0.088000	0.22492	0.212000	0.22240	0.0:0.6949:0.2088:0.0963	15.679	0.77111	596	0.68392	.;.	.	.	.	.	.	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	1	0	0.005035	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.018939	0.02632	660.33	39	chr15	45106877	.	G	A	660.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.569;SOR=0.707	GT:AD:DP:GQ:PL	0/1:31,25:56:99:674,0,813	18	0	1	0
chr15	45135290	45135290	C	T	exonic	DUOX1	.	nonsynonymous SNV	DUOX1:NM_175940:exon5:c.C494T:p.P165L,DUOX1:NM_017434:exon6:c.C494T:p.P165L	.	6	1501	13	2	0	17	0.005631	0.0002	0.01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	0.0036	0.0119808	0.0105	0.0151	0.0009	0.0002	0	0.0002	0.0032	0.0545	0.0065394	1011	154602	rs201314048	0.0035	0.0035	0.0021	0.0049	0.0501	0.0034	0.0033	0.0488	0.0483	0.0127	0.0003	0	2.558e-05	0	0.0027	6.945e-05	0.0034	0.0501	0.0047	0.0048	0.0039	0.0056	0.0446	0.0044	0.0043	0.0397	0.0378	0.0116	0	0.0007	0	0	0	0	5.881e-05	0.0038	0.0446	0.304	0.14303	T	0.535	0.09931	T	0.0	0.02946	B	0.001	0.04355	B	0.018262	0.27521	N	0.334485	0.745488	0.29692	N	-1.04	0.01097	N	-0.29	0.67712	T	0.29	0.04161	N	0.29	0.33904	-1.0600	0.11756	T	0.048	0.20672	T	10	0.002321452	0.00034	T	.	.	.	0.081	0.23632	.	.	0.521173705876	0.51762	0.49126523940544053	0.49047	0.306097199594	0.32911	0.403198838234	0.25514	T	0.065711	0.32758	T	-0.559368	0.00256	T	-0.541232	0.18174	T	0.0195847465045476	0.00661	T	0.424758	0.11367	T	0.12910745	0.30164	0.067281365	0.13896	0.12910745	0.30164	0.067281365	0.13896	-2.517	0.05898	T	.	.	0.051	0.00172	B	.;.	.;.	1.336851	0.17426	13.16	0.93366076201998627	0.23108	0.24847	0.22519	N	AEFDBCI	0.104651	0.20933	N	-1.00667812711471	0.08464	0.3969793	-0.846518354240687	0.13371	0.6932852	0.935703769657464	0.27224	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.55	-0.711	0.10664	2.024000	0.40670	0.747000	0.21206	-0.174000	0.10959	1.000000	0.71638	0.999000	0.35428	0.502000	0.29062	0.4733:0.1116:0.0:0.4151	3.530	0.07331	616	0.66398	Dual oxidase, peroxidase domain;Dual oxidase, peroxidase 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	0.007576	0.000000	0.004098	0.008772	0.000000	0.000000	0.009202	0.022727	0.02632	1609.33	34	chr15	45135290	.	C	T	1609.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.05;DP=797;ExcessHet=0;FS=2.661;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.81;MQRankSum=-6.72;QD=12.48;ReadPosRankSum=-0.586;SOR=0.982	GT:AD:DP:GQ:PL	0/1:74,55:129:99:1623,0,1824	18	0	1	0
chr15	45486716	45486716	T	C	exonic	SLC30A4	.	nonsynonymous SNV	SLC30A4:NM_013309:exon7:c.A1030G:p.I344V	.	476	1043	3	0	0	3	0.00143609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	.	0.00479233	0.0018	0	8.649e-05	0.0001	0	1.502e-05	0.0011	0.0129	0.0016171	250	154602	rs201823030	0.0008	0.0008	0.0004	0.0011	0.0127	0.0007	0.0007	0.0120	0.0118	3.108e-05	0	0	0	0	0.0002	5.486e-06	0.0007	0.0127	0.0004	0.0004	0.0002	0.0006	0.0130	0.0003	0.0003	0.0105	0.0095	0	0	0	0	0	0	0	0	0.0005	0.0130	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.007	0.12992	B	0.000190	0.48115	N	0.221603	0.512268	0.31637	N	0.955	0.23872	L	0.18	0.60361	T	0.35	0.03761	N	0.233	0.26233	-0.9781	0.35435	T	0.087	0.33662	T	10	0.0052719116	0.00115	T	.	.	.	0.100	0.28662	0.619	0.75347	0.043077524339	0.03247	0.5312951440330397	0.53053	0.28057246335	0.30537	0.347290456295	0.17522	T	0.112015	0.42795	T	-0.471404	0.00833	T	-0.438884	0.28934	T	0.0181120226350876	0.00533	T	0.675632	0.28413	T	0.04662768	0.07837	0.0497522	0.07667	0.04662768	0.07837	0.0497522	0.07667	-2.711	0.07396	T	.	.	0.085	0.10111	B	.	.	1.765280	0.22449	15.63	0.81945232651488065	0.13940	0.95003	0.63085	D	AEFI	0.557317	0.56700	D	-0.847756734321624	0.12105	0.5880515	-0.585124041548069	0.19880	1.068641	0.850176589759227	0.25029	0.615465	0.37627	0	0.588015	0.36545	0	0.59043	0.30614	0	0.655142	0.61905	0	.	.	5.57	4.44	0.53164	5.261000	0.65314	4.236000	0.42680	-0.188000	0.09543	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0716:0.0:0.9284	12.799	0.56954	508	0.75398	.	.	.	.	.	.	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	0.003528	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.011364	0.02632	759.33	35	chr15	45486716	.	T	C	759.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.437;DP=722;ExcessHet=0;FS=2.945;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=0.173;SOR=0.401	GT:AD:DP:GQ:PL	0/1:55,34:89:99:773,0,1421	18	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V,DMXL2:NM_001174117:exon22:c.C4582G:p.L1528V,DMXL2:NM_001378464:exon23:c.C6250G:p.L2084V,DMXL2:NM_001174116:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378457:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378458:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378459:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378461:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378462:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378463:exon24:c.C6490G:p.L2164V,DMXL2:NM_015263:exon24:c.C6490G:p.L2164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4062	1514.26	131	chr15	51480616	.	G	C	1514.26	.	AC=13;AF=0.406;AN=32;BaseQRankSum=-4.773;DP=2473;ExcessHet=13.8672;FS=456.581;InbreedingCoeff=-0.5797;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.244;SOR=13.277	GT:AD:DP:GQ:PL	0/1:89,44:143:71:71,0,1921	3	0	13	3
chr15	52789786	52789786	G	T	exonic	ONECUT1	.	nonsynonymous SNV	ONECUT1:NM_004498:exon1:c.C99A:p.H33Q	.	433	1065	24	0	0	24	0.0111421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.266872187019	0.0008	0.00139776	0.0022	0.0069	0.0034	0.0010	0	0.0020	0.0068	0.0008	0.0006533	101	154602	rs202151356	0.0006	0.0006	0.0005	0.0006	0.0074	0.0006	0.0005	0.0054	0.0048	0.0015	0.0015	0.0008	0	3.061e-05	0.0074	0.0005	0.0011	0.0006	0.0010	0.0010	0.0011	0.0010	0.0022	0.0009	0.0008	0.0018	0.0017	0.0022	0	0.0007	0	0	0	0.0171	0.0006	0.0019	0.0002	0.006	0.61437	D	0.131	0.34596	T	0.923	0.51194	P	0.932	0.66722	D	0.000000	0.84330	D	0.000000	0.990213	0.41111	D	2.265	0.64440	M	0.46	0.56281	T	-3.09	0.63438	D	0.423	0.46274	-0.4325	0.70984	T	0.303	0.67381	T	10	0.011258066	0.00247	T	0.266872	0.89726	D	0.196	0.47777	0.237	0.16760	0.73717434623	0.73482	0.6085144295515603	0.60783	0.858553327071	0.68866	0.904076218605	0.96879	D	0.536775	0.84068	D	-0.375384	0.03330	T	-0.31504	0.43115	T	0.052712866491094	0.05970	T	0.750425	0.37198	T	0.56583935	0.70832	0.47062784	0.69304	0.56583935	0.70833	0.47062784	0.69304	-4.227	0.27141	T	.	.	0.19	0.40842	B	.	.	3.521245	0.49360	22.8	0.96772130753103691	0.31042	0.87868	0.47558	D	AEFDBHCI	.	.	.	0.445665494150784	0.63957	4.639928	0.391475143013073	0.61040	4.298563	0.999999999890852	0.74766	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.04	4.04	0.46262	1.039000	0.29876	6.979000	0.57118	-0.253000	0.07101	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	14.950	0.70713	429	0.80881	.	.	.	.	.	.	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	0.009635	0.000000	0.010899	0.011696	0.000000	0.035088	0.006211	0.003817	0.02632	591.33	40	chr15	52789786	.	G	T	591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.514;DP=705;ExcessHet=0;FS=6.428;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.024;SOR=1.349	GT:AD:DP:GQ:PL	0/1:20,23:43:99:605,0,482	18	0	1	0
chr15	54338415	54338415	A	G	exonic	UNC13C	.	nonsynonymous SNV	UNC13C:NM_001080534:exon16:c.A4639G:p.R1547G,UNC13C:NM_001329919:exon16:c.A4633G:p.R1545G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.589	0.0758303145083	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.015	0.61642	D	0.961	0.55431	D	0.721	0.54900	P	0.000014	0.62929	D	0.106801	0.850501	0.35214	D	1.78	0.46185	L	-1.29	0.79475	T	-4.33	0.76740	D	0.579	0.60071	0.014	0.82529	D	0.478	0.80007	T	10	0.58686095	0.66160	D	0.07583	0.72384	D	0.589	0.83582	0.67	0.80803	0.472741223727	0.46900	0.5585298296994007	0.55779	0.221161533263	0.24661	0.593324303627	0.51963	T	0.59168	0.86782	D	0.175188	0.71599	D	0.0138691	0.71232	D	0.995398223400116	0.87345	D	0.962304	0.85835	D	0.52990806	0.68825	0.56838125	0.75012	0.52990806	0.68826	0.56838125	0.75013	-7.449	0.57250	T	.	.	0.526	0.65767	A	.;.	.;.	3.419549	0.47472	22.5	0.99314620795437347	0.59129	0.92817	0.56618	D	AEFI	0.583357	0.58261	D	-0.0522510194740208	0.39502	2.330523	-0.0414201415076465	0.37863	2.22281	2.94282808048369E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.15	1.35	0.21078	3.479000	0.52928	3.010000	0.35957	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.4016:0.5984:0.0:0.0	12.461	0.55071	912	0.21483	.;Calcium-dependent secretion activator domain|Calcium-dependent secretion activator 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	.	.	.	.	.	.	.	.	0.02632	1377.33	50	chr15	54338415	.	A	G	1377.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.923;DP=804;ExcessHet=0;FS=1.685;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-0.321;SOR=0.499	GT:AD:DP:GQ:PL	0/1:41,56:97:99:1391,0,1111	18	0	1	0
chr15	62164875	62164875	G	T	exonic	C2CD4B	.	nonsynonymous SNV	C2CD4B:NM_001007595:exon2:c.C110A:p.P37Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.674	0.638935419067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-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	U	0.000000	0.999921	0.51308	D	2.77	0.80896	M	-3.09	0.92613	D	-7.96	0.96342	D	0.467	0.50327	0.925	0.96033	D	0.871	0.95721	D	10	0.7507841	0.75621	D	0.638935	0.96918	D	0.674	0.87965	0.387	0.40788	0.914223916533	0.91336	0.27050885046482614	0.26963	1.88731367476	0.92685	0.781039059162	0.79084	T	0.409804	0.76473	T	0.171674	0.71276	D	0.00882071	0.70906	D	0.999442160129547	0.97429	D	0.878312	0.59309	D	0.86357	0.88359	0.8636767	0.92431	0.86357	0.88360	0.8636767	0.92431	-5.013	0.36981	T	.	.	0.461	0.62762	A	.	.	4.649361	0.74094	26.1	0.98969475893933423	0.49501	0.79596	0.39472	D	AEFDBCIJ	0.643941	0.62037	D	0.583141695911735	0.72122	5.756411	0.461519149360054	0.65460	4.826614	0.99999878300659	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.378051	0.06126	2	0.372554	0.06265	0	.	.	4.05	3.12	0.34986	6.008000	0.70397	7.723000	0.67399	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0:0.16:0.84:0.0	13.278	0.59633	277	0.89083	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1029.33	37	chr15	62164875	.	G	T	1029.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=782;ExcessHet=0;FS=11.891;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-1.952;SOR=0.649	GT:AD:DP:GQ:PL	0/1:59,41:100:99:1043,0,1504	18	0	1	0
chr15	72783669	72783669	G	A	exonic	ADPGK	.	nonsynonymous SNV	ADPGK:NM_001365225:exon1:c.C23T:p.A8V,ADPGK:NM_001365227:exon1:c.C23T:p.A8V,ADPGK:NM_001365228:exon1:c.C23T:p.A8V,ADPGK:NM_031284:exon1:c.C23T:p.A8V	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.0252270363878	0.0036	0.000798722	0.0022	0	0	0	.	0.0071	0	0.0008	0.0014424	223	154602	rs199948684	0.0059	0.0056	0.0061	0.0057	0.0070	0.0058	0.0057	0.0068	0.0068	0.0009	0.0018	0.0043	0	0.0020	0.0002	0.0070	0.0041	0.0005	0.0037	0.0037	0.0043	0.0031	0.0065	0.0035	0.0034	0.0060	0.0058	0.0014	0.0110	0.0011	0.0049	0	0.0012	0	0.0065	0.0019	0.0006	0.512	0.07449	T	1.0	0.01155	T	0.009	0.15093	B	0.002	0.06944	B	0.001834	0.37892	N	0.276195	0.999808	0.20292	N	0.205	0.09354	N	0.95	0.43279	T	0.06	0.06253	N	0.188	0.20528	-1.0445	0.15971	T	0.040	0.17319	T	10	0.006830424	0.00155	T	0.025227	0.48206	D	0.218	0.51265	.	.	0.384419519794	0.38055	0.5991861924557701	0.59849	0.239721478437	0.26521	0.847263753414	0.89201	D	.	.	.	-0.419686	0.01718	T	-0.370218	0.36864	T	0.0294382394093694	0.01904	T	0.716128	0.32863	T	.	.	.	.	.	.	.	.	-3.763	0.20253	T	.	.	0.091	0.13268	B	.	.	2.424244	0.31176	18.66	0.99773075631985175	0.86088	0.08133	0.14099	N	ALL	0.104954	0.20984	N	-0.533977315725385	0.20989	1.11058	-0.348387948235419	0.26559	1.467783	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.56	4.56	0.55644	1.550000	0.35830	2.958000	0.35743	0.662000	0.56354	0.998000	0.41325	1.000000	0.68203	0.994000	0.71098	0.2393:0.0:0.7607:0.0	5.805	0.17697	395	0.83006	.	BBS4|ADPGK|ADPGK-AS1	Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Testis	.	.	.	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	0.001689	0.000000	0.000000	0.003125	0.000000	0.000000	0.006757	0.000000	0.02632	554.33	35	chr15	72783669	.	G	A	554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=650;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=2.12;SOR=0.639	GT:AD:DP:GQ:PL	0/1:16,22:38:99:568,0,336	18	0	1	0
chr15	75690325	75690325	C	A	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G740T:p.R247L	.	242	1239	41	0	0	41	0.0162763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	.	.	.	0.0072	0.0221	0.0051	0.0002	0.0016	0.0082	0.0106	0.0026	4.53e-05	7	154602	rs150241616	0.0023	0.0075	0.0022	0.0023	0.0104	0.0022	0.0022	0.0083	0.0075	0.0076	0.0012	0.0014	0	0.0013	0.0104	0.0024	0.0019	0.0007	0.0003	0.0038	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	0.0006	0	0.0003	0	0	9.443e-05	0.0035	0.0003	0.0010	0	0.027	0.46513	D	0.073	0.43159	T	0.579	0.38789	P	0.155	0.34417	B	0.963717	0.07733	N	1.017680	0.999987	0.18198	N	1.59	0.40313	L	-1.15	0.77964	T	-2.52	0.54702	D	0.26	0.29429	-0.8451	0.52304	T	0.136	0.45164	T	10	0.0137501955	0.00291	T	.	.	.	0.336	0.65816	.	.	0.456089687795	0.45231	0.5956843285600265	0.59498	0.526958073932	0.50312	0.209487393498	0.00790	T	0.353228	0.72055	T	-0.0896309	0.38139	T	-0.366525	0.37296	T	0.0229721219108999	0.01020	T	0.69823	0.30825	T	0.0856866	0.19887	0.17583492	0.40076	0.0856866	0.19887	0.17583492	0.40075	-4.458	0.30335	T	.	.	0.087	0.11414	B	.	.	0.218507	0.06011	2.453	0.95054651626861075	0.26075	0.16596	0.19462	N	AEFBI	0.241601	0.36319	N	-1.19395214962389	0.05091	0.2312774	-1.31445633219564	0.04242	0.1997009	0.999317597206819	0.39113	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.21	-7.51	0.01203	0.200000	0.17055	-6.465000	0.01391	-1.914000	0.00512	0.003000	0.16062	0.000000	0.08366	0.346000	0.25568	0.0:0.1131:0.1092:0.7777	12.053	0.52813	162	0.93704	Laminin G domain|Laminin G domain|Laminin G 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	0.024083	0.013889	0.035616	0.021739	0.000000	0.017241	0.014493	0.008065	0.02632	398.33	42	chr15	75690325	.	C	A	398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.2;DP=787;ExcessHet=0;FS=14.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.06;MQRankSum=-4.777;QD=4.58;ReadPosRankSum=-0.102;SOR=2.948	GT:AD:DP:GQ:PL	0/1:70,17:87:99:412,0,1838	18	0	1	0
chr15	82345025	82345025	G	0	exonic	GOLGA6L10	.	.	.	.	642	820	47	0	13	60	0.0278601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1176	564.74	17	chr15	82345025	.	G	*	564.74	.	AC=4;AF=0.118;AN=34;BaseQRankSum=2.07;DP=1407;ExcessHet=3.116;FS=20.05;InbreedingCoeff=-0.1871;MLEAC=4;MLEAF=0.118;MQ=44.55;MQRankSum=-0.625;QD=0.92;ReadPosRankSum=-1.64;SOR=1.137	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,23:32:99:.:.:740,0,156:.	13	0	4	2
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	25907.6	45	chr15	89776903	.	AGGGCAGGGGCAG	*	25907.6	.	AC=13;AF=0.342;AN=38;DP=1095;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=13;MLEAF=0.342;MQ=60;QD=29.14;SOR=0.727	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,21:56:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:2283,1388,1351:89776889	8	2	9	0
chr15	89776915	89776915	G	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	164	151	35	35	1137	1242	0.257985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9118	2087.72	45	chr15	89776915	.	G	*	2087.72	.	AC=31;AF=0.912;AN=34;DP=1075;ExcessHet=0;FS=0;InbreedingCoeff=0.4414;MLEAC=32;MLEAF=0.941;MQ=60;QD=3.01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,35:56:86:1|1:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:1521,86,0:89776889	1	15	1	2
chr15	90265732	90265732	T	C	exonic	NGRN	.	nonsynonymous SNV	NGRN:NM_001033088:exon1:c.T20C:p.L7P	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	.	.	0.00239617	0.0011	0	0	0.0123	0.0006	0.0002	0.0024	0.0001	0.0009638	149	154602	rs182240673	0.0004	0.0004	0.0004	0.0004	0.0098	0.0003	0.0003	0.0090	0.0087	0	0	0	0.0098	0.0005	0.0007	5.846e-05	0.0005	0.0001	0.0005	0.0005	0.0004	0.0006	0.0124	0.0004	0.0004	0.0099	0.0090	0	0	6.532e-05	0	0.0124	0.0003	0	0.0001	0.0009	0.0004	0.132	0.26519	T	0.006	0.70582	D	0.145	0.27759	B	0.123	0.32463	B	1.000000	0.07966	U	0.071793	1	0.08975	N	1.845	0.48678	L	0.66	0.52416	T	-0.66	0.19085	N	0.568	0.59138	-1.0050	0.28457	T	0.050	0.21143	T	10	0.006096393	0.00137	T	.	.	.	0.146	0.38789	.	.	0.277317399466	0.27352	0.5698972402654141	0.56917	0.330495264886	0.35125	0.474918931723	0.35358	T	0.03556	0.23766	T	-0.409458	0.02004	T	-0.349258	0.39290	T	0.0746974159033111	0.09294	T	0.365463	0.08501	T	0.18486446	0.39822	0.22051172	0.46829	0.18486446	0.39822	0.22051172	0.46828	-5.212	0.39064	T	.	.	0.155	0.34272	B	.	.	1.813636	0.23047	15.86	0.72414416083039179	0.09965	0.05681	0.11599	N	ALL	0.128811	0.24674	N	-0.977329585081941	0.09089	0.4287625	-1.02854528793713	0.09160	0.4541956	0.999999999999769	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.3	0.521	0.16244	0.087000	0.14801	0.273000	0.16680	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1821:0.103:0.1892:0.5257	1.252	0.01865	671	0.60868	.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1127.33	38	chr15	90265732	.	T	C	1127.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.166;DP=749;ExcessHet=0;FS=1.505;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.423;SOR=0.798	GT:AD:DP:GQ:PL	0/1:67,47:114:99:1141,0,1844	18	0	1	0
chr15	100569699	100569699	T	C	exonic	LINS1	.	nonsynonymous SNV	LINS1:NM_001040616:exon7:c.A1813G:p.M605V,LINS1:NM_001352508:exon7:c.A1660G:p.M554V,LINS1:NM_001352507:exon8:c.A1066G:p.M356V	Mental retardation, autosomal recessive 27, Autosomal recessive	0	1513	7	2	0	11	0.003622	.	.	.	208148	not_provided|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.038	0.00786859715941	0.0030	0.00179712	0.0032	0.0004	0.0012	0	0.0011	0.0054	0.0033	0.0004	0.0032535	503	154602	rs141855950	0.0035	0.0035	0.0035	0.0035	0.0043	0.0034	0.0034	0.0042	0.0041	0.0004	0.0015	0.0007	0	0.0012	0.0021	0.0043	0.0028	0.0006	0.0025	0.0025	0.0029	0.0020	0.0042	0.0023	0.0022	0.0038	0.0037	0.0006	0.0208	0.0014	0.0006	0	0.0013	0.0102	0.0042	0.0024	0.0004	0.284	0.15303	T	0.597	0.08025	T	0.006	0.13644	B	0.009	0.14300	B	0.559142	0.11355	N	0.807412	1	0.08975	N	1.385	0.34509	L	2.96	0.09542	T	-0.73	0.20576	N	0.111	0.09772	-0.9548	0.40131	T	0.014	0.05657	T	10	0.0044367015	0.00091	T	0.007869	0.20877	T	0.038	0.09825	.	.	0.148003135375	0.14442	0.21056481815225053	0.20972	0.0241734808708	0.02455	0.251071333885	0.03881	T	0.006477	0.05912	T	-0.579342	0.00194	T	-0.604008	0.12476	T	0.00251822801114324	0.00026	T	0.437256	0.12012	T	0.1089653	0.25763	0.071702875	0.15385	0.12494617	0.29302	0.08245246	0.18819	-1.799	0.02506	T	0.21805728516328768	0.29356	0.077	0.06433	B	.	.	0.474078	0.08434	5.193	0.37631309480870795	0.02491	0.40652	0.26484	N	AEFDBI	0.065231	0.12711	N	-0.797420619399092	0.13377	0.6585629	-0.771791599121989	0.15187	0.7975131	0.995452095884026	0.34136	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.98	3.84	0.43422	2.044000	0.40863	-0.767000	0.07511	0.502000	0.22824	0.132000	0.23378	0.000000	0.08366	0.003000	0.05239	0.1456:0.0853:0.0:0.7691	6.108	0.19305	964	0.07719	.	.	.	.	.	.	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	0.002518	0.000000	0.001359	0.002924	0.000000	0.008621	0.006098	0.003788	0.02632	1069.33	65	chr15	100569699	.	T	C	1069.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.792;DP=1284;ExcessHet=0;FS=1.8;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.178;SOR=0.881	GT:AD:DP:GQ:PL	0/1:45,38:83:99:1083,0,1215	18	0	1	0
chr16	59460	59460	T	C	exonic	RHBDF1	.	nonsynonymous SNV	RHBDF1:NM_022450:exon15:c.A1852G:p.M618V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.0126539405309	.	.	1.663e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs778943144	6.843e-06	6.84e-06	4.085e-06	9.628e-06	0.0001	3.46e-06	2.52e-06	6.246e-05	4.757e-05	0	0	0	0	0	0	0	0	0.0001	1.313e-05	1.313e-05	0	2.686e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	0.823	0.02936	T	0.797	0.04104	T	0.04	0.21238	B	0.038	0.23361	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.72	0.18721	N	0.85	0.47130	T	-0.25	0.11008	N	0.917	0.91968	-1.0570	0.12517	T	0.070	0.28544	T	10	0.48494664	0.60652	T	0.012654	0.31409	T	0.193	0.47281	0.252	0.19067	0.484691182572	0.48100	0.8049455255058424	0.80448	1.12878905808	0.78533	0.80831694603	0.83234	D	0.019714	0.15652	T	0.0463938	0.57879	T	0.0315189	0.72376	D	0.330339252948761	0.26238	T	0.968003	0.88371	D	0.22659163	0.45344	0.1681815	0.38759	0.22659163	0.45344	0.1681815	0.38758	-5.09	0.37802	T	.	.	0.249	0.48386	B	.	.	3.544193	0.49785	22.8	0.93593509911375261	0.23446	0.96765	0.70819	D	AEFDBCI	0.869174	0.78960	D	-0.229272798919782	0.31938	1.795927	0.0160607035425427	0.40460	2.414968	0.999999999998555	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.38	5.38	0.77279	7.953000	0.87348	4.236000	0.42680	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.575	0.67834	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	630.33	33	chr16	59460	.	T	C	630.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.188;DP=681;ExcessHet=0;FS=5.672;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-0.194;SOR=1.593	GT:AD:DP:GQ:PL	0/1:29,26:55:99:644,0,908	18	0	1	0
chr16	283193	283193	-	CTG	exonic	PDIA2	.	nonframeshift insertion	PDIA2:NM_006849:exon1:c.24_25insCTG:p.L14_R15insL	.	403	1116	2	1	0	4	0.00178891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027	0.00119808	0.0041	0.0018	0.0041	0	0	0.0058	0.0082	0.0015	0.00073	19	26028	rs564559094	0.0031	0.0031	0.0032	0.0031	0.0037	0.0031	0.0030	0.0036	0.0035	0.0017	0.0020	0.0017	2.557e-05	0.0003	0.0020	0.0037	0.0039	0.0007	0.0022	0.0022	0.0024	0.0020	0.0034	0.0020	0.0019	0.0031	0.0029	0.0014	0	0.0019	0.0003	0	0.0005	0	0.0034	0.0014	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1207.79	33	chr16	283193	.	A	ACTG	1207.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.03;DP=647;ExcessHet=0.119;FS=0.993;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=18.03;ReadPosRankSum=-0.207;SOR=0.845	GT:AD:DP:GQ:PL	0/1:22,17:39:99:646,0,872	17	0	2	0
chr16	723106	723106	G	A	exonic	CCDC78	.	nonsynonymous SNV	CCDC78:NM_001378033:exon8:c.C622T:p.R208C,CCDC78:NM_001378031:exon10:c.C1009T:p.R337C,CCDC78:NM_001031737:exon12:c.C1189T:p.R397C,CCDC78:NM_001378030:exon12:c.C1189T:p.R397C	Myopathy, centronuclear, 4, Autosomal dominant	8	1513	1	0	0	1	0.00033036	.	.	.	693925	not_provided|Congenital_myopathy_with_internal_nuclei_and_atypical_cores	MedGen:C3661900|MONDO:MONDO:0013890,MedGen:C4707232,OMIM:614807,Orphanet:319160	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.182	0.0214364859583	.	0.000599042	0.0005	0	0.0003	0	0	3.08e-05	0	0.0031	0.0003816	59	154602	rs559942514	0.0002	0.0002	0.0002	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	8.961e-05	0.0003	0	5.038e-05	0	0	8.184e-05	0.0002	0.0028	0.0002	0.0002	0.0002	0.0003	0.0035	0.0002	0.0001	0.0022	0.0018	4.808e-05	0	0.0009	0	0	0	0	2.94e-05	0	0.0035	0.008	0.58626	D	0.001	0.83351	D	0.999	0.77913	D	0.881	0.62579	P	0.372813	0.13502	N	0.655217	0.97254	0.40950	N	0.805	0.20218	L	1.08	0.39401	T	-3.43	0.67359	D	0.192	0.21056	-0.9645	0.38310	T	0.151	0.47874	T	10	0.005176753	0.00112	T	0.021436	0.44208	T	0.182	0.45420	0.333	0.32005	0.365703291355	0.36175	0.05575818867710843	0.05516	0.406424725356	0.41517	0.20194002986	0.00515	T	0.064776	0.32521	T	-0.412932	0.01901	T	-0.368975	0.37008	T	0.0985983047276081	0.12203	T	0.712229	0.32360	T	0.11928229	0.28089	0.12373641	0.29834	0.1290437	0.30152	0.122293144	0.29500	-4.689	0.33270	T	0.501813926550062	0.57690	0.102	0.18080	B	.	.	3.351276	0.46219	22.3	0.9960859800340347	0.74634	0.76153	0.37328	D	AEFDGBCI	0.247811	0.36832	N	-0.132200721614151	0.35995	2.074738	-0.308041431994369	0.27839	1.547593	0.999951592245843	0.48110	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.604944	0.38103	0	.	.	4.38	1.01	0.19044	1.065000	0.30202	2.442000	0.32776	-0.106000	0.15538	0.003000	0.16062	0.977000	0.30130	0.009000	0.08673	0.0:0.1459:0.5526:0.3015	8.832	0.34246	662	0.61715	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	2583.83	47	chr16	723106	.	G	A	2583.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.67;DP=851;ExcessHet=0.119;FS=1.26;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=0.299;SOR=0.847	GT:AD:DP:GQ:PL	0/1:39,39:78:99:1178,0,1015	17	0	2	0
chr16	1093513	1093529	GGCCGGCTTGACCAGGT	-	exonic	C1QTNF8	.	frameshift deletion	C1QTNF8:NM_207419:exon4:c.731_747del:p.H244Rfs*125	.	342	1176	4	0	0	4	0.00169779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0004	0.0035	0	0	0.0015	0	0.0023	0.0002305	6	26028	rs774542059	0.0008	0.0008	0.0008	0.0008	0.0013	0.0007	0.0007	0.0008	0.0008	0.0001	0.0008	0	0	0	0.0013	0.0009	0.0007	0.0009	0.0008	0.0008	0.0009	0.0007	0.0037	0.0007	0.0006	0.0029	0.0026	0.0002	0	0.0037	0	0	9.432e-05	0	0.0008	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	726.29	34	chr16	1093512	.	CGGCCGGCTTGACCAGGT	C	726.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.824;DP=757;ExcessHet=0;FS=1.09;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.291;SOR=0.503	GT:AD:DP:GQ:PL	0/1:36,21:57:99:740,0,1413	18	0	1	0
chr16	1195509	1195509	G	C	exonic	CACNA1H	.	nonsynonymous SNV	CACNA1H:NM_001005407:exon4:c.G489C:p.Q163H,CACNA1H:NM_021098:exon4:c.G489C:p.Q163H	Hyperaldosteronism, familial, type IV, Autosomal dominant	0	1451	66	5	0	76	0.0255205	.	.	.	465730	not_provided|Epilepsy,_childhood_absence,_susceptibility_to,_6|Hyperaldosteronism,_familial,_type_IV|Idiopathic_generalized_epilepsy	MedGen:C3661900|MONDO:MONDO:0012763,MedGen:C2749872,OMIM:611942,Orphanet:64280|MONDO:MONDO:0014875,MedGen:C4310756,OMIM:617027,Orphanet:642671|MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.589	.	0.0017	0.00499201	0.0091	0.0009	0.0046	0	0.0119	0.0073	0.0165	0.0222	0.0041591	643	154602	rs60593994	0.0041	0.0041	0.0036	0.0045	0.0208	0.0040	0.0039	0.0178	0.0167	0.0008	0.0024	0.0046	5.098e-05	0.0052	0.0208	0.0032	0.0048	0.0170	0.0036	0.0036	0.0032	0.0041	0.0162	0.0034	0.0033	0.0133	0.0122	0.0006	0.0022	0.0029	0.0049	0.0006	0.0076	0.0102	0.0043	0.0043	0.0162	0.061	0.37118	T	0.028	0.54934	D	0.051	0.73220	B	0.044	0.67021	B	0.187939	0.16925	N	0.589948	0.933575	0.26992	N	0.755	0.19153	N	-4.96	0.98448	D	-2.3	0.51157	N	0.487	0.53445	0.503	0.90584	D	0.856	0.95210	D	10	0.009828389	0.00221	T	.	.	.	0.589	0.83582	0.492	0.57890	0.907716034186	0.90679	0.6053794673270226	0.60468	.	.	0.537974953651	0.44159	T	0.579796	0.86222	D	-0.154178	0.27659	T	0.0193832	0.71591	D	0.0115321058971988	0.00174	T	0.868713	0.57175	D	0.3267669	0.55205	0.17381215	0.39733	0.27811882	0.50866	0.23346187	0.48535	-4.751	0.34015	T	0.2448169002887968	0.33160	0.276	0.54492	B	.;.;.;.	.;.;.;.	3.993221	0.58790	24.0	0.99663114981693679	0.78074	0.76265	0.37391	D	AEFDBHCI	0.382935	0.46463	N	-0.0927476318306143	0.37709	2.197865	-0.0337636271135359	0.38200	2.247254	0.945066235711583	0.27644	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.69	2.7	0.31007	1.632000	0.36715	1.521000	0.27092	0.600000	0.45842	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.096:0.0:0.904:0.0	10.865	0.46058	946	0.12043	Ion transport domain;Ion transport domain;.;.	.	.	.	.	.	Likely benign	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	1	0	0.021673	0.020202	0.012262	0.020468	0.000000	0.043103	0.021472	0.022901	0.07895	6600.77	35	chr16	1195509	.	G	C	6600.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.311;DP=957;ExcessHet=0;FS=1.969;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=19.59;ReadPosRankSum=0.348;SOR=0.581	GT:AD:DP:GQ:PL	0/1:101,82:183:99:1919,0,2455	17	1	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5357	10029.7	66	chr16	1397277	.	A	*	10029.7	.	AC=15;AF=0.536;AN=28;BaseQRankSum=-1.758;DP=1398;ExcessHet=0.25;FS=0;InbreedingCoeff=0.1529;MLEAC=18;MLEAF=0.643;MQ=59.46;MQRankSum=-1.388;QD=12.54;ReadPosRankSum=2.26;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,14:32:99:1|0:1397263_TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCAC_T:2321,780,670:1397263	4	5	5	5
chr16	1399389	1399389	C	T	exonic	UNKL	.	nonsynonymous SNV	UNKL:NM_001037125:exon5:c.G719A:p.R240Q,UNKL:NM_001193388:exon5:c.G719A:p.R240Q,UNKL:NM_001372107:exon5:c.G719A:p.R240Q	.	420	1094	7	1	0	9	0.0040965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0016	0.00379393	0.0050	0.0009	0.0011	0.0005	0.0004	0.0022	0	0.0237	0.0031565	488	154602	rs141777582	0.0028	0.0029	0.0024	0.0033	0.0177	0.0028	0.0027	0.0170	0.0167	0.0003	0.0009	0	0.0002	0.0001	0.0049	0.0021	0.0027	0.0177	0.0020	0.0020	0.0016	0.0023	0.0176	0.0018	0.0017	0.0146	0.0135	0.0006	0	0.0026	0	0.0004	9.413e-05	0.0102	0.0021	0.0014	0.0176	0.005	0.63226	D	0.052	0.48855	T	0.997	0.70673	D	0.742	0.55764	P	0.000000	0.84330	D	0.000000	0.999971	0.58761	D	2.845	0.82663	M	-0.23	0.66652	T	-2.87	0.60665	D	0.747	0.74644	-0.2033	0.77585	T	0.421	0.76643	T	10	0.0087712705	0.00199	T	.	.	.	0.317	0.63904	.	.	0.436025050644	0.43221	0.6277779447133178	0.62710	0.0912365526607	0.10305	0.623870193958	0.56276	T	0.20087	0.55858	T	-0.263256	0.12522	T	-0.136646	0.60408	T	0.0312224929181586	0.02181	T	0.985781	0.95172	D	.	.	.	.	.	.	.	.	-5.093	0.37834	T	.	.	0.083	0.17488	B	.;.;.	.;.;.	4.801165	0.78012	26.8	0.99929603435023084	0.99279	0.97190	0.73220	D	AEFDBCI	0.809871	0.73326	D	0.411816280544136	0.62070	4.417149	0.279211665152239	0.54327	3.598034	0.999999991742954	0.74766	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	4.22	4.22	0.49153	7.507000	0.80548	5.640000	0.49146	0.599000	0.40250	0.995000	0.38783	0.721000	0.26353	0.154000	0.20445	0.0:1.0:0.0:0.0	14.451	0.66961	749	0.51929	.;.;.	.	.	.	.	.	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	0.004569	0.000000	0.002725	0.005848	0.000000	0.000000	0.003086	0.011450	0.05263	1245.83	34	chr16	1399389	.	C	T	1245.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.25;DP=674;ExcessHet=0.119;FS=5.433;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=0.975;SOR=0.314	GT:AD:DP:GQ:PL	0/1:23,20:43:99:485,0,549	17	0	2	0
chr16	1494523	1494523	G	T	exonic	TELO2	.	nonsynonymous SNV	TELO2:NM_001351846:exon2:c.G242T:p.G81V,TELO2:NM_016111:exon2:c.G242T:p.G81V	You-Hoover-Fong syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.108459605806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.062	0.45318	T	0.807	0.45251	P	0.213	0.37437	B	0.012385	0.29191	N	0.321128	0.676703	0.30315	N	2.52	0.73523	M	-1.91	0.84701	D	-2.45	0.53577	N	0.424	0.46368	-0.5049	0.68472	T	0.382	0.73855	T	10	0.29132304	0.46712	T	0.10846	0.78499	D	0.271	0.58633	0.307	0.27806	0.571414409706	0.56808	0.31081622766582645	0.30994	0.200104210969	0.22413	0.378383845091	0.22027	T	0.13792	0.47113	T	0.0189153	0.54236	T	-0.210606	0.53637	T	0.648584365844727	0.38402	D	0.784022	0.42156	T	0.074886374	0.16836	0.1036579	0.24875	0.074886374	0.16835	0.1036579	0.24875	-4.96	0.36403	T	0.4938225141855319	0.57022	0.305	0.53394	B	.	.	1.887878	0.23980	16.22	0.988611647973069	0.47476	0.29503	0.23839	N	ALL	0.227001	0.35087	N	-0.511869855922571	0.21696	1.153272	-0.626212833778455	0.18820	1.007096	0.999999999002916	0.74766	0.789315	0.99827	0	0.52208	0.09955	0	0.768056	0.98339	0	0.548927	0.17530	0	.	.	4.69	1.31	0.20837	0.237000	0.17763	3.579000	0.39150	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.204000	0.22012	0.2:0.3566:0.4434:0.0	4.627	0.11868	789	0.46346	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1047.33	37	chr16	1494523	.	G	T	1047.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.419;DP=782;ExcessHet=0;FS=0.776;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-1.069;SOR=0.551	GT:AD:DP:GQ:PL	0/1:50,44:94:99:1061,0,1339	18	0	1	0
chr16	1625985	1625985	G	T	exonic	CRAMP1	.	nonsynonymous SNV	CRAMP1:NM_020825:exon3:c.G359T:p.G120V	.	414	1062	45	1	0	47	0.021649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	0.0022	0.00439297	0.0087	0.0009	0.0122	0	0	0.0054	0.0053	0.0151	0.0015977	247	154602	rs150953427	0.0027	0.0026	0.0022	0.0031	0.0200	0.0026	0.0026	0.0170	0.0159	0.0013	0.0026	0.0125	5.597e-05	2.031e-05	0.0200	0.0015	0.0050	0.0159	0.0020	0.0020	0.0018	0.0021	0.0166	0.0018	0.0017	0.0137	0.0126	0.0003	0	0.0022	0.0121	0	0	0.0068	0.0018	0.0047	0.0166	0.003	0.68238	D	0.006	0.70582	D	0.047	0.21998	B	0.039	0.23607	B	0.714790	0.06279	U	1.293900	0.516498	0.54805	D	1.845	0.48678	L	1.6	0.28604	T	-1.81	0.42575	N	0.234	0.26596	-1.1190	0.02395	T	0.047	0.20116	T	10	0.0060564578	0.00136	T	.	.	.	0.044	0.11924	.	.	0.043077524339	0.03247	0.36344445300390743	0.36258	2.073624099	0.94498	0.61243647337	0.54661	T	0.290878	0.66365	T	-0.464481	0.00921	T	-0.427647	0.30203	T	0.051960638129214	0.05841	T	0.880312	0.59828	D	0.11622287	0.27416	0.13331488	0.31970	0.11622287	0.27416	0.13331488	0.31969	-5.155	0.38481	T	.	.	0.086	0.11172	B	.;.	.;.	3.568289	0.50241	22.9	0.99028105396021637	0.50742	0.91850	0.54398	D	AEFDBI	0.208233	0.33433	N	-0.513885814024058	0.21630	1.149333	-0.402537516771408	0.24923	1.367544	0.951471058068634	0.27959	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.636168	0.56350	0	.	.	5.99	4.03	0.46115	4.409000	0.59524	7.437000	0.58841	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0697:0.0:0.7915:0.1389	9.831	0.40107	553	0.71930	.;.	.	.	.	.	.	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	0.029213	0.021978	0.054217	0.039130	0.000000	0.000000	0.000000	0.041667	0.07895	3209.79	34	chr16	1625985	.	G	T	3209.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.249;DP=840;ExcessHet=0.3672;FS=3.269;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.395;SOR=0.885	GT:AD:DP:GQ:PL	0/1:54,43:97:99:960,0,1336	16	0	3	0
chr16	2087923	2087923	-	CCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG	exonic	TSC2	.	frameshift insertion	TSC2:NM_001318831:exon35:c.4318_4319insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1446Gfs*27,TSC2:NM_001318827:exon36:c.4741_4742insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1587Gfs*27,TSC2:NM_001318829:exon36:c.4705_4706insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1575Gfs*27,TSC2:NM_001077183:exon37:c.4849_4850insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1623Gfs*27,TSC2:NM_001318832:exon37:c.4882_4883insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1634Gfs*27,TSC2:NM_001363528:exon37:c.4852_4853insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1624Gfs*27,TSC2:NM_001114382:exon38:c.4981_4982insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1667Gfs*27,TSC2:NM_001370404:exon38:c.4918_4919insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1646Gfs*27,TSC2:NM_001370405:exon38:c.4921_4922insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1647Gfs*27,TSC2:NM_021055:exon38:c.4921_4922insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1647Gfs*27,TSC2:NM_000548:exon39:c.5050_5051insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1690Gfs*27	Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	59024	Tuberous_sclerosis_2|Lymphangiomyomatosis|Isolated_focal_cortical_dysplasia_type_II|not_provided|Tuberous_sclerosis_syndrome	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690,Orphanet:538|Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994|MedGen:C3661900|MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	0.0003	0.0003	0.0003	0.0003	0.0023	0.0003	0.0003	0.0019	0.0018	0.0022	0.0004	0	0.0023	0.0004	0.0003	0.0001	0.0004	0.0009	0.0010	0.0013	0.0010	0.0010	0.0026	0.0008	0.0008	0.0022	0.0020	0.0026	0	0.0008	0	0.0012	0	0	0.0003	0.0014	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	694.29	34	chr16	2087923	.	T	TCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG	694.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.924;DP=700;ExcessHet=0;FS=1.33;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.84;ReadPosRankSum=-1.613;SOR=0.963	GT:AD:DP:GQ:PL	0/1:16,19:35:99:708,0,614	18	0	1	0
chr16	2456748	2456748	G	A	exonic	CCNF	.	nonsynonymous SNV	CCNF:NM_001323538:exon16:c.G1165A:p.V389I,CCNF:NM_001761:exon17:c.G2089A:p.V697I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.00542637082952	.	.	8.339e-06	0	0	0	0	0	0	6.238e-05	6.5e-06	1	154602	rs747219952	8.904e-06	8.893e-06	6.813e-06	1.102e-05	5.978e-05	4.97e-06	3.83e-06	1.585e-05	9.31e-06	5.978e-05	0	0	5.041e-05	0	0	3.6e-06	1.658e-05	4.646e-05	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	2.406e-05	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.331	0.18505	T	0.0	0.02946	B	0.0	0.01387	B	0.234713	0.03542	N	1.519900	1	0.08975	N	-0.41	0.02942	N	2.0	0.21473	T	0.07	0.06138	N	0.018	0.00252	-1.0141	0.25625	T	0.045	0.19194	T	10	0.02649799	0.00815	T	0.005426	0.13923	T	0.108	0.30607	0.162	0.06618	0.394230963961	0.39037	0.047249534697402035	0.04667	0.1515365786	0.17104	0.250488102436	0.03819	T	0.05443	0.29723	T	-0.600805	0.00144	T	-0.808642	0.01695	T	0.00831849285178106	0.00100	T	0.390061	0.09662	T	0.030712064	0.02783	0.038237922	0.03650	0.030712064	0.02782	0.038237922	0.03650	-4.503	0.30928	T	0.062357212926859674	0.01843	0.061	0.01109	B	.	.	-0.168029	0.03258	0.553	0.83819322411788844	0.14937	0.04950	0.10712	N	AEFBCI	0.051983	0.09235	N	-1.36769684791042	0.02946	0.1308473	-1.4443969623864	0.02821	0.1304719	0.996411901457977	0.34729	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.43	-6.16	0.01919	-1.080000	0.03517	-0.876000	0.07083	-0.102000	0.15922	0.000000	0.06391	0.000000	0.08366	0.384000	0.26424	0.2288:0.0:0.7712:0.0	16.125	0.81196	719	0.55657	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	3735.33	34	chr16	2456748	.	G	A	3735.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.41;DP=894;ExcessHet=0;FS=3.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=-1.224;SOR=0.496	GT:AD:DP:GQ:PL	0/1:115,134:249:99:3749,0,2693	18	0	1	0
chr16	3583210	3583210	C	A	exonic	SLX4	.	nonsynonymous SNV	SLX4:NM_032444:exon14:c.G5040T:p.R1680S	Fanconi anemia, complementation group P, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	985339	Fanconi_anemia_complementation_group_P|Fanconi_anemia	MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.072	0.076486118063	.	.	0.0001	0	0	0	0	4.495e-05	0	0.0008	0.00011	17	154602	rs199592185	6.977e-05	6.977e-05	3.267e-05	0.0001	0.0017	5.846e-05	5.457e-05	0.0009	0.0007	0	0	0	0	0	0.0017	1.888e-05	0.0001	0.0007	8.537e-05	8.53e-05	6.425e-05	0.0001	0.0012	4.954e-05	3.961e-05	0.0005	0.0004	4.81e-05	0	6.54e-05	0	0	0	0	4.411e-05	0.0005	0.0012	0.564	0.06302	T	0.752	0.04772	T	0.223	0.30377	B	0.024	0.20255	B	0.002156	0.00863	N	3.240280	1	0.08975	N	0.895	0.22405	L	5.3	0.01093	T	-0.28	0.11547	N	0.124	0.11626	-0.9317	0.43889	T	0.003	0.00800	T	10	0.017328382	0.00369	T	0.076486	0.72544	D	0.072	0.21020	0.23	0.15705	0.0611884634855	0.05136	0.19921265212138792	0.19838	0.061787928436	0.06879	0.185387313366	0.00154	T	0.025436	0.19020	T	-0.531422	0.00377	T	-0.636965	0.09891	T	0.0362832247252377	0.03030	T	0.40306	0.10319	T	0.101433314	0.23959	0.039252494	0.03975	0.101433314	0.23959	0.039252494	0.03975	-1.767	0.02412	T	.	.	0.175	0.38281	B	.	.	0.084879	0.04899	1.482	0.91676041476106818	0.20967	0.21132	0.21293	N	AEFDBI	0.094389	0.19085	N	-1.1310822583477	0.06097	0.2797519	-1.14170732500381	0.06918	0.3346367	0.253219302216024	0.18702	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.98	-0.564	0.11185	-0.372000	0.07559	.	.	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.5944:0.1232:0.2823	6.533	0.21537	587	0.69154	.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1721.33	41	chr16	3583210	.	C	A	1721.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.275;DP=757;ExcessHet=0;FS=3.229;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.106;SOR=1.006	GT:AD:DP:GQ:PL	0/1:64,65:129:99:1735,0,1641	18	0	1	0
chr16	11927452	11927458	GCGGCCC	0	exonic	NPIPB2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	2995.78	34	chr16	11927452	.	GCGGCCC	*	2995.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=2.46;DP=1582;ExcessHet=2.0135;FS=1.863;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=3.11;ReadPosRankSum=-1.288;SOR=0.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,52:146:99:0|1:11927441_GTTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCGGGTGGTGA_G:1711,0,3673:11927441	14	0	5	0
chr16	11927459	11927495	TCCGCCTCTTGGGTTCGGGTGGTGATTCCACCTCAGC	0	exonic	NPIPB2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	2954.78	34	chr16	11927459	.	TCCGCCTCTTGGGTTCGGGTGGTGATTCCACCTCAGC	*	2954.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.07;DP=1597;ExcessHet=2.0135;FS=2.628;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=3.02;ReadPosRankSum=-0.684;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,52:146:99:0|1:11927441_GTTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCGGGTGGTGA_G:1711,0,3673:11927441	14	0	5	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	65183.6	187	chr16	11927475	.	G	*	65183.6	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.94;DP=3186;ExcessHet=0.0151;FS=0.819;InbreedingCoeff=0.4571;MLEAC=6;MLEAF=0.158;MQ=59.99;MQRankSum=0;QD=21.88;ReadPosRankSum=-0.239;SOR=0.763	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,52:140:99:1|0:11927441_GTTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCGGGTGGTGA_G:4579,2783,3530:11927441	13	0	6	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3947	3525.85	234	chr16	14582206	.	G	C	3525.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.534;DP=3197;ExcessHet=20.8569;FS=372.816;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.41;SOR=13.96	GT:AD:DP:GQ:PL	0/1:96,68:164:99:326,0,1520	4	0	15	0
chr16	15370063	15370063	A	C	exonic	NPIPA5	.	nonsynonymous SNV	NPIPA5:NM_001277325:exon3:c.T249G:p.D83E,NPIPA5:NM_001351200:exon3:c.T249G:p.D83E	.	572	945	4	1	0	6	0.00316456	.	.	.	3547464	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.115	.	.	.	0.0059	0	0	0	0	0.0107	0	0	0.0004226	11	26028	rs201129860	0.0057	0.0057	0.0057	0.0056	0.0079	0.0055	0.0055	0.0064	0.0063	0.0009	0.0037	0.0064	0	0.0005	0.0079	0.0065	0.0047	0.0024	0.0043	0.0043	0.0044	0.0041	0.0068	0.0040	0.0039	0.0063	0.0061	0.0010	0	0.0055	0.0065	0	0.0008	0.0071	0.0068	0.0029	0.0009	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.08975	N	2.31	0.66127	M	0.25	0.59449	T	-3.15	0.69593	D	0.14	0.13911	-0.7851	0.56013	T	0.317	0.68620	T	7	0.009825617	0.00221	T	.	.	.	0.115	0.32236	0.645	0.78224	0.27715347029	0.27323	0.0013212619015821074	0.00122	1.74787393537	0.90976	.	.	.	0.096318	0.39799	T	-0.469246	0.00859	T	-0.460046	0.26594	T	0.0522938508676767	0.05898	T	0.845215	0.52386	T	0.47684568	0.65709	0.40533915	0.64937	0.47684568	0.65709	0.40533915	0.64937	-3.0	0.10663	T	.	.	0.568	0.67543	P	.;.;.	.;.;.	1.272577	0.16714	12.72	0.98096997404131547	0.38238	0.06650	0.12668	N	AEFI	0.049694	0.08611	N	-0.241142760789112	0.31458	1.764158	-0.55294531657547	0.20728	1.118075	1.6562970298374E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	0.777000	0.26379	-0.736000	0.07640	0.209000	0.17967	0.843000	0.30332	0.000000	0.08366	0.016000	0.10718	.	.	.	721	0.55360	.;.;.	.	.	.	.	.	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	1	0	.	.	.	.	.	.	.	.	0.02632	1052.33	33	chr16	15370063	.	A	C	1052.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.783;DP=738;ExcessHet=0;FS=0.72;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=32.54;MQRankSum=0.39;QD=9.48;ReadPosRankSum=1.03;SOR=0.609	GT:AD:DP:GQ:PL	0/1:62,49:111:99:1066,0,1446	18	0	1	0
chr16	15608289	15608289	A	C	splicing	MARF1	NM_014647:exon21:c.4182+2T>G;NM_001184999:exon21:c.4173+2T>G;NM_001184998:exon21:c.4182+2T>G	.	.	.	.	.	.	.	.	.	.	0.9999	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.013e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.62e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226396	0.76381	D	0.0874256	0.76073	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.880593	0.80035	27.2	0.99249930435919897	0.56825	0.93745	0.59070	D	AEFGBCI	.	.	.	1.1020985799721	0.98172	17.59691	0.939101774359612	0.97063	15.53408	0.999999999994994	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.128073	0.03558	0	0.117559	0.03655	0	0.970338	0.72592	5.87	5.87	0.94266	8.582000	0.90577	11.196000	0.88846	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.154000	0.20445	1.0:0.0:0.0:0.0	16.269	0.82430	668	0.61153	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.03571	45.02	43	chr16	15608289	.	A	C	45.02	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-2.419;DP=963;ExcessHet=0;FS=74.615;InbreedingCoeff=-0.1206;MLEAC=1;MLEAF=0.036;MQ=60;MQRankSum=0;QD=0.85;ReadPosRankSum=2.68;SOR=4.85	GT:AD:DP:GQ:PL	0/1:40,13:53:56:56,0,894	13	0	1	5
chr16	16161554	16161554	C	T	exonic	ABCC6	.	nonsynonymous SNV	ABCC6:NM_001171:exon25:c.G3517A:p.A1173T,ABCC6:NM_001351800:exon25:c.G3175A:p.A1059T	Arterial calcification, generalized, of infancy, 2, Autosomal recessive;Pseudoxanthoma elasticum, Autosomal recessive;Pseudoxanthoma elasticum, forme fruste, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0755619342257	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1047104008	1.026e-05	1.026e-05	4.084e-06	1.65e-05	5.038e-05	6.16e-06	4.89e-06	8.35e-06	5.03e-06	0	0	0	5.038e-05	0	0	1.169e-05	0	0	1.314e-05	1.313e-05	2.569e-05	0	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	0.252	0.17014	T	0.242	0.24264	T	0.003	0.11197	B	0.007	0.12992	B	0.389529	0.13275	N	0.635267	1	0.08975	N	-0.235	0.03917	N	-2.61	0.89953	D	0.08	0.06026	N	0.288	0.32591	-0.8124	0.54405	T	0.307	0.67813	T	10	0.13434768	0.25568	T	0.075562	0.72318	D	0.175	0.44197	0.637	0.77361	0.417843521124	0.41399	0.4262098673152567	0.42537	0.0658519436626	0.07348	0.253313183784	0.04125	T	0.142549	0.47820	T	-0.0816458	0.39446	T	-0.355055	0.38625	T	0.060183160007	0.07198	T	0.647135	0.42483	T	0.047675908	0.08188	0.07119939	0.15218	0.047675908	0.08187	0.07119939	0.15218	-1.783	0.02459	T	0.05808015466182695	0.01450	0.073	0.11893	B	.;.	.;.	-0.537445	0.01750	0.132	0.91252363744783171	0.20511	0.04242	0.09766	N	AEFBI	0.147125	0.27073	N	-1.27365537874144	0.03995	0.179542	-1.32392205619653	0.04123	0.1938075	0.0025978333299017	0.09558	0.549168	0.22868	0	0.573888	0.26702	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	4.56	-5.49	0.02381	0.046000	0.13919	-0.179000	0.11150	-0.204000	0.08590	0.003000	0.16062	0.000000	0.08366	0.175000	0.21139	0.1219:0.1534:0.1227:0.602	3.445	0.07047	900	0.24599	ABC transporter type 1, transmembrane domain|ABC transporter type 1, 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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	752.33	35	chr16	16161554	.	C	T	752.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=700;ExcessHet=0;FS=3.477;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-1.248;SOR=0.352	GT:AD:DP:GQ:PL	0/1:35,29:64:99:766,0,881	18	0	1	0
chr16	16387483	16387483	C	T	exonic	NPIPA7;NPIPA8	.	nonsynonymous SNV	NPIPA7:NM_001282507:exon3:c.C277T:p.R93C,NPIPA8:NM_001282511:exon4:c.C277T:p.R93C	.	694	826	2	0	0	2	0.00120919	.	.	.	3184981	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.055	0.00875808216996	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879335983	0.0065	0.0061	0.0066	0.0064	0.0078	0.0063	0.0063	0.0075	0.0074	0.0033	0.0025	0.0018	0.0011	0.0123	0.0014	0.0078	0.0064	0.0021	0.0061	0.0077	0.0064	0.0058	0.0089	0.0057	0.0056	0.0081	0.0079	0.0042	0	0.0016	0.0021	0.0012	0.0072	0.0051	0.0089	0.0052	0.0031	0.092	0.31682	T	0.107	0.37730	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	0.57880	T	-3.52	0.68412	D	0.081	0.05670	-0.8069	0.54736	T	0.152	0.48014	T	3	0.02321887	0.00601	T	0.008758	0.23123	T	0.055	0.15663	.	.	0.51627217869	0.51271	0.001988041619261028	0.00183	.	.	.	.	.	0.069164	0.33640	T	-0.202264	0.20478	T	-0.528315	0.19454	T	0.0198883281656491	0.00690	T	0.69823	0.30825	T	0.07649338	0.17303	0.15223034	0.35825	0.07649338	0.17303	0.15223034	0.35824	-5.443	0.41331	T	.	.	.	.	.	.	.	1.952723	0.24801	16.53	0.99104339194856017	0.52546	0.00795	0.03245	N	AEFI	0.052986	0.09509	N	-0.646675792504876	0.17557	0.9044596	-0.845333259352164	0.13400	0.6949161	1.09537333666636E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	0.641000	0.24411	-0.226000	0.10719	0.084000	0.17577	0.993000	0.37899	0.000000	0.08366	0.014000	0.10232	.	.	.	964	0.07719	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	161.35	23	chr16	16387483	.	C	T	161.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=443;ExcessHet=0;FS=0;InbreedingCoeff=-0.028;MLEAC=1;MLEAF=0.026;MQ=23.81;MQRankSum=-1.979;QD=6.72;ReadPosRankSum=0.299;SOR=0.33	GT:AD:DP:GQ:PL	0/1:15,9:24:99:175,0,360	18	0	1	0
chr16	18859592	18859592	G	A	exonic	SMG1	.	nonsynonymous SNV	SMG1:NM_015092:exon27:c.C3917T:p.P1306L	.	424	1084	12	2	0	16	0.00732601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0113490704153	0.0018	0.000798722	0.0026	0.0001	0.0014	0.0004	0.0002	0.0042	0.0069	0.0010	0.0013907	215	154602	rs200385870	0.0018	0.0019	0.0018	0.0018	0.0044	0.0018	0.0017	0.0030	0.0026	0.0002	0.0007	0.0145	0.0002	1.877e-05	0.0044	0.0018	0.0019	0.0011	0.0014	0.0014	0.0014	0.0014	0.0020	0.0012	0.0012	0.0017	0.0016	0.0003	0	0.0011	0.0107	0	9.464e-05	0	0.0020	0.0028	0.0006	0.214	0.19361	T	.	.	.	0.017	0.17573	B	0.004	0.10090	B	0.065297	0.21891	N	0.323747	0.974728	0.25475	N	0.345	0.11182	N	5.38	0.01079	T	-0.24	0.10833	N	0.442	0.48042	-0.9078	0.47121	T	0.002	0.00769	T	10	0.0029993951	0.00049	T	0.011349	0.28886	T	0.051	0.14325	.	.	0.232442253697	0.22838	0.3240860240167392	0.32321	0.299420063141	0.32310	0.482888817787	0.36455	T	0.022056	0.17072	T	-0.523727	0.00418	T	-0.531859	0.19101	T	0.00194363568584072	0.00020	T	0.911409	0.68582	D	0.07307961	0.16304	0.03350142	0.02255	0.07307961	0.16304	0.03350142	0.02255	-3.15	0.11879	T	.	.	0.099	0.16494	B	.;.	.;.	2.324213	0.29769	18.23	0.73046706820286789	0.10188	0.67689	0.33524	D	AEFBI	0.174255	0.30137	N	-0.708603451613109	0.15780	0.7982314	-0.601931842491161	0.19444	1.043204	2.55394060325851E-4	0.06190	0.732398	0.92422	0	0.708844	0.79440	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	4.59	2.3	0.27735	3.446000	0.52692	6.337000	0.55470	-0.281000	0.06419	0.999000	0.42656	1.000000	0.68203	0.483000	0.28633	0.0:0.0795:0.1538:0.7667	7.155	0.24808	176	0.93188	PIK-related kinase;PIK-related kinase	.	.	.	.	.	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	0.003539	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.003817	0.02632	1019.33	33	chr16	18859592	.	G	A	1019.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.9;MQRankSum=2.26;QD=10.84;ReadPosRankSum=-2.467;SOR=0.656	GT:AD:DP:GQ:PL	0/1:50,44:94:99:1033,0,1062	18	0	1	0
chr16	27573918	27573918	-	C	exonic	KATNIP	.	frameshift insertion	KATNIP:NM_015202:exon2:c.26dupC:p.E10Rfs*16	.	432	1089	1	0	0	1	0.000458926	.	.	.	1683286	See_cases|Joubert_syndrome_26|not_provided	.|MONDO:MONDO:0014771,MedGen:C4084843,OMIM:616784,Orphanet:475|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1283389193	2.326e-05	2.326e-05	2.178e-05	2.475e-05	2.968e-05	1.674e-05	1.477e-05	2.116e-05	1.862e-05	0	0	0	0	0	0	2.968e-05	1.656e-05	0	1.971e-05	1.97e-05	0	4.035e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	7990.73	36	chr16	27573918	.	G	GC	7990.73	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.44;DP=925;ExcessHet=0;FS=2.111;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=25.13;ReadPosRankSum=2.4;SOR=0.56	GT:AD:DP:GQ:PL	1/1:0,164:164:99:5989,493,0	17	1	1	0
chr16	28342966	28342966	-	GACAA	exonic	NPIPB6	.	frameshift insertion	NPIPB6:NM_001282524:exon7:c.918_919insTTGTC:p.P307Lfs*17	.	436	1078	2	0	6	8	0.000926784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0004	0.0006	0	0	0.0008	0	0	7.68e-05	2	26028	.	0.0069	0.0080	0.0072	0.0066	0.0079	0.0068	0.0068	0.0078	0.0077	0.0018	0.0027	0.0027	0.0004	0.0120	0.0013	0.0079	0.0047	0.0013	0.0005	0.0006	0.0005	0.0006	0.0008	0.0004	0.0004	0.0006	0.0006	7.528e-05	0.0011	0.0004	0.0006	0	0.0012	0	0.0008	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	560.79	13	chr16	28342966	.	G	GGACAA	560.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.702;DP=2199;ExcessHet=0.119;FS=29.753;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=46.42;MQRankSum=3.14;QD=6.52;ReadPosRankSum=-3.6;SOR=0.017	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,33:54:99:0|1:28342964_A_C:273,0,826:28342964	17	0	2	0
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	533.97	122	chr16	29485668	.	C	*	533.97	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.51;DP=2515;ExcessHet=20.8569;FS=6.844;InbreedingCoeff=-0.7273;MLEAC=13;MLEAF=0.382;MQ=28.71;MQRankSum=-1.012;QD=0.28;ReadPosRankSum=-0.682;SOR=0.237	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,56:149:99:0|1:29485610_ACACACTC_A:1247,0,3364:29485610	5	0	12	2
chr16	30784160	30784160	C	G	exonic	ZNF629	.	nonsynonymous SNV	ZNF629:NM_001080417:exon3:c.G168C:p.K56N,ZNF629:NM_001345970:exon3:c.G126C:p.K42N	.	407	1114	1	0	0	1	0.000448632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0183768685445	0.0005	.	0.0007	0	0.0004	0	0.0002	0.0012	0.0029	0	0.0005692	88	154602	rs199766404	0.0014	0.0014	0.0015	0.0013	0.0017	0.0013	0.0013	0.0017	0.0016	0.0002	0.0004	0	0	0.0004	0	0.0017	0.0013	2.335e-05	0.0007	0.0007	0.0008	0.0006	0.0014	0.0006	0.0006	0.0012	0.0011	0.0002	0	0.0002	0	0	9.416e-05	0	0.0014	0.0014	0	0.005	0.63226	D	0.102	0.38450	T	0.999	0.77913	D	0.972	0.72692	D	0.000448	0.44317	D	0.000000	0.975187	0.39167	D	0.805	0.20218	L	2.99	0.09262	T	-0.46	0.14978	N	0.278	0.31478	-1.0937	0.04944	T	0.041	0.17488	T	10	0.06311667	0.08175	T	0.018377	0.40424	T	0.083	0.24192	0.256	0.19689	0.179529687257	0.17594	0.3786129169604143	0.37776	2.21200435668	0.95776	0.530608594418	0.43120	T	0.003022	0.02422	T	-0.58395	0.00182	T	-0.652113	0.08806	T	0.0644549508798735	0.07850	T	0.712529	0.32403	T	0.21010895	0.43298	0.13203414	0.31693	0.21010895	0.43298	0.13203414	0.31692	-4.38	0.29285	T	.	.	0.248	0.48313	B	.	.	3.304798	0.45380	22.1	0.99764062876694248	0.85335	0.94034	0.59914	D	AEFDBI	0.293512	0.40412	N	0.224340279545603	0.52381	3.412624	0.207442535727153	0.50260	3.219908	0.989583846815906	0.31872	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.94	3.99	0.45527	1.940000	0.39851	3.968000	0.40802	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.9137:0.0:0.0863	11.851	0.51686	12	0.98946	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	4705.77	33	chr16	30784160	.	C	G	4705.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.272;DP=826;ExcessHet=0;FS=4.037;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=22.95;ReadPosRankSum=-1.14;SOR=0.733	GT:AD:DP:GQ:PL	1/1:0,114:114:99:3601,342,0	17	1	1	0
chr16	31330410	31330410	T	C	exonic	ITGAM	.	nonsynonymous SNV	ITGAM:NM_000632:exon27:c.T3163C:p.W1055R,ITGAM:NM_001145808:exon27:c.T3166C:p.W1056R	.	0	1521	1	0	0	1	0.000328623	.	.	.	1495563	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.406	0.126189754377	.	.	8.283e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs771789895	6.161e-06	6.157e-06	1.09e-05	1.376e-06	7.201e-06	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.201e-06	1.657e-05	0	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.003	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.999797	0.49177	D	2.84	0.82582	M	0.17	0.60485	T	-13.19	0.99906	D	0.842	0.83781	-0.1848	0.78059	T	0.395	0.74764	T	9	0.8254441	0.81727	D	0.12619	0.80782	D	0.406	0.71869	0.566	0.68768	0.891819750827	0.89075	0.6829164781526808	0.68230	1.34573443082	0.83979	0.623566269875	0.56232	T	0.568644	0.85681	D	0.184315	0.72440	D	0.026979	0.72082	D	0.999256432056427	0.96710	D	0.784922	0.42251	T	0.7677897	0.81915	0.6919991	0.81873	0.7677897	0.81917	0.6919991	0.81874	-7.843	0.60016	D	.	.	0.942	0.86117	P	.;.;.;.	.;.;.;.	4.467912	0.69602	25.4	0.9910062146311428	0.52446	0.92579	0.56044	D	AEFDBI	0.534290	0.55339	D	0.563429699510067	0.70902	5.570484	0.474225455893233	0.66288	4.93247	0.999999366023099	0.74766	0.676563	0.55306	0	0.633656	0.55848	0	0.673471	0.61138	0	0.530356	0.10902	0	.	.	5.27	5.27	0.73797	1.990000	0.40338	.	.	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.277000	0.23942	0.0:0.0:0.0:1.0	11.590	0.50195	273	0.89298	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	8154.77	33	chr16	31330410	.	T	C	8154.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.035;DP=976;ExcessHet=0;FS=0.466;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=22.46;ReadPosRankSum=-0.252;SOR=0.66	GT:AD:DP:GQ:PL	1/1:0,188:188:99:5779,564,0	17	1	1	0
chr16	31490211	31490211	G	T	exonic	SLC5A2	.	nonsynonymous SNV	SLC5A2:NM_003041:exon13:c.G1773T:p.E591D	Renal glucosuria, Autosomal recessive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	325185	not_specified|Familial_renal_glucosuria	MedGen:CN169374|MONDO:MONDO:0009297,MedGen:C3245525,OMIM:233100,Orphanet:69076	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.135	0.074082098114	0.0007	.	0.0012	9.66e-05	0	0	0.0023	0.0018	0.0011	6.064e-05	0.0010931	169	154602	rs149525864	0.0012	0.0012	0.0012	0.0012	0.0015	0.0012	0.0011	0.0014	0.0014	2.987e-05	0.0002	0.0003	0	0.0013	0	0.0015	0.0009	2.319e-05	0.0015	0.0015	0.0015	0.0014	0.0028	0.0013	0.0012	0.0025	0.0023	9.619e-05	0	0.0003	0	0	0.0020	0	0.0028	0.0009	0	0.435	0.09401	T	0.305	0.20037	T	0.001	0.07471	B	0.001	0.04355	B	0.014677	0.28464	N	0.302566	0.998968	0.45775	D	-0.125	0.04555	N	-3.02	0.92258	D	-0.02	0.07299	N	0.245	0.27673	-0.6166	0.64130	T	0.493	0.80762	T	10	0.010189235	0.00228	T	0.074082	0.71952	D	0.135	0.36572	0.208	0.12497	0.711965941606	0.70944	0.38141189348611615	0.38056	0.204082279664	0.22826	0.370484679937	0.20902	T	0.138449	0.47195	T	-0.39461	0.02511	T	-0.336716	0.40717	T	0.0150184032970082	0.00323	T	0.591441	0.21800	T	0.025192397	0.01430	0.026468305	0.00737	0.025192397	0.01429	0.026468305	0.00737	-3.405	0.15123	T	.	.	0.082	0.08560	B	.	.	0.078869	0.04854	1.448	0.89576584828639183	0.18916	0.17236	0.19749	N	AEFDBCI	0.195168	0.32221	N	-0.995062809083757	0.08709	0.4093748	-1.01500296336041	0.09455	0.4704862	6.70406088090842E-4	0.07575	0.732398	0.92422	0	0.643519	0.57511	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.22	-0.491	0.11444	-0.420000	0.07127	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.330000	0.25202	0.3604:0.1467:0.4929:0.0	4.870	0.12987	313	0.87327	.	.	.	.	.	.	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	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07895	4834.77	34	chr16	31490211	.	G	T	4834.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.83;DP=803;ExcessHet=0;FS=0.617;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=23.13;ReadPosRankSum=0.011;SOR=0.626	GT:AD:DP:GQ:PL	1/1:1,111:112:99:3557,325,0	17	1	1	0
chr16	57813723	57813723	T	0	exonic	LOC388282	.	.	.	.	519	727	164	25	87	301	0.128297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	2171.83	33	chr16	57813723	.	T	*	2171.83	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.721;DP=861;ExcessHet=0.0107;FS=0.87;InbreedingCoeff=0.4747;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=5.84;ReadPosRankSum=-0.517;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,59:59:99:1|1:57813722_ATG_A:2644,178,0:57813722	16	2	1	0
chr16	66823281	66823281	T	C	exonic	NAE1	.	nonsynonymous SNV	NAE1:NM_001018160:exon5:c.A80G:p.D27G,NAE1:NM_001286500:exon6:c.A356G:p.D119G,NAE1:NM_003905:exon6:c.A347G:p.D116G,NAE1:NM_001018159:exon7:c.A329G:p.D110G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0208761258462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.33753	T	0.075	0.42976	T	0.407	0.34981	B	0.378	0.43788	B	0.000001	0.84330	D	0.052997	1	0.81001	D	1.795	0.47270	L	0.84	0.47477	T	-2.77	0.58733	D	0.615	0.63798	-0.9008	0.47910	T	0.154	0.48430	T	10	0.5293914	0.63096	D	0.020876	0.43558	T	0.231	0.53208	0.523	0.62668	0.687836408464	0.68516	0.7237786903322078	0.72321	0.420935812295	0.42609	0.684337496758	0.64891	T	0.20038	0.55794	T	0.0804998	0.62098	D	-0.122144	0.61627	T	0.97700434923172	0.71640	D	0.972403	0.92553	D	0.57748663	0.71471	0.34648156	0.60315	0.57748663	0.71472	0.34648156	0.60315	-8.91	0.68874	D	.	.	0.597	0.68735	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.683808	0.74978	26.3	0.99334894869779522	0.59934	0.96941	0.71780	D	AEFBHCI	0.906918	0.86030	D	0.230208873191102	0.52667	3.439522	0.324970129236951	0.57011	3.865569	0.999999919631432	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.78	4.78	0.60666	7.642000	0.82531	6.210000	0.55001	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.602	0.68045	67	0.97183	.;THIF-type NAD/FAD binding fold;.;.;.;THIF-type NAD/FAD binding fold;THIF-type NAD/FAD binding fold	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1389	441.61	39	chr16	66823281	.	T	C	441.61	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-3.833;DP=1524;ExcessHet=1.3;FS=221.541;InbreedingCoeff=-0.1732;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=0.452;SOR=10.787	GT:AD:DP:GQ:PL	0/1:101,39:140:99:182,0,2076	13	0	5	1
chr16	66885147	66885147	G	A	exonic	PDP2	.	nonsynonymous SNV	PDP2:NM_001329929:exon2:c.G863A:p.R288Q,PDP2:NM_001329930:exon2:c.G863A:p.R288Q,PDP2:NM_001329931:exon2:c.G863A:p.R288Q,PDP2:NM_001329934:exon2:c.G863A:p.R288Q,PDP2:NM_020786:exon2:c.G863A:p.R288Q,PDP2:NM_001329928:exon3:c.G863A:p.R288Q,PDP2:NM_001329932:exon3:c.G863A:p.R288Q,PDP2:NM_001329933:exon3:c.G863A:p.R288Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.548	0.0274517078286	.	.	1.65e-05	0	0	0	0	1.501e-05	0	6.058e-05	1.29e-05	2	154602	rs778015440	2.737e-06	2.736e-06	1.361e-06	4.126e-06	2.987e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	2.987e-05	0	0	0	0	0	1.799e-06	0	1.159e-05	2.629e-05	2.627e-05	3.854e-05	1.346e-05	0.0002	8.14e-06	5.14e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0.0002	0	0	1.47e-05	0	0	0.176	0.22312	T	0.277	0.21880	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.86	0.83026	M	2.36	0.16089	T	-1.89	0.44094	N	0.912	0.91391	-0.6646	0.62072	T	0.188	0.53856	T	10	0.9357258	0.92904	D	0.027452	0.50258	D	0.548	0.81252	0.865	0.96050	0.837832381162	0.83628	0.9100995334566319	0.90983	0.966802065496	0.73216	0.571625947952	0.48908	T	0.124504	0.44958	T	0.154638	0.69701	D	0.0812049	0.75660	D	0.803946760138026	0.46623	D	0.99685	0.98806	D	0.24423504	0.47370	0.2672928	0.52585	0.24423504	0.47370	0.2672928	0.52584	-10.235	0.75306	D	.	.	0.170	0.37274	B	.	.	5.531788	0.91880	32	0.99951863260928964	0.99951	0.99813	0.99634	D	AEFBI	0.895667	0.83592	D	1.03486540745002	0.96719	15.053	0.981839493055587	0.98244	17.77256	1.0	0.98316	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	10.003000	0.99689	10.024000	0.83146	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.027	0.97526	87	0.96348	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase 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	.	.	.	.	.	.	.	.	0.02632	1798.33	38	chr16	66885147	.	G	A	1798.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=827;ExcessHet=0;FS=1.986;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=0.795;SOR=0.541	GT:AD:DP:GQ:PL	0/1:103,64:167:99:1812,0,2902	18	0	1	0
chr16	68822063	68822063	G	A	exonic	CDH1	.	nonsynonymous SNV	CDH1:NM_001317184:exon11:c.G1591A:p.A531T,CDH1:NM_001317185:exon12:c.G226A:p.A76T,CDH1:NM_004360:exon12:c.G1774A:p.A592T	Endometrial carcinoma, somatic;Gastric cancer, familial diffuse, with or without cleft lip and/or palate, Autosomal dominant;Ovarian carcinoma, somatic	1	1504	14	3	0	20	0.00660502	.	.	YES	50222	Hereditary_cancer-predisposing_syndrome|Hereditary_diffuse_gastric_adenocarcinoma|Breast_neoplasm|not_provided|CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome|Prostate_cancer|Blepharocheilodontic_syndrome_1|Familial_cancer_of_breast|Endometrial_carcinoma|Ovarian_neoplasm|not_specified|Breast_and/or_ovarian_cancer	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:26106|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MedGen:C3661900|MONDO:MONDO:0100488,MedGen:CN311521|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331|MONDO:MONDO:0054740,MedGen:C4551988,OMIM:119580,Orphanet:1997|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MedGen:CN169374|MedGen:CN221562	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.379	0.0476632062453	0.0045	0.00119808	0.0032	0.0008	0.0015	0	0.0017	0.0044	0.0077	0.0033	0.0031888	493	154602	rs35187787	0.0051	0.0051	0.0052	0.0051	0.0071	0.0050	0.0050	0.0058	0.0057	0.0008	0.0019	0.0027	7.557e-05	0.0020	0.0071	0.0059	0.0043	0.0041	0.0031	0.0031	0.0032	0.0030	0.0052	0.0029	0.0028	0.0048	0.0046	0.0010	0	0.0026	0.0020	0	0.0008	0	0.0052	0.0028	0.0035	0.002	0.72154	D	0.006	0.70582	D	0.492	0.36976	P	0.092	0.30031	B	0.303477	0.14557	N	0.595783	0.676292	0.33190	D	2.265	0.64440	M	0.09	0.61443	T	-2.75	0.58407	D	0.2	0.29544	-0.5484	0.66847	T	0.136	0.45184	T	10	0.018004835	0.00388	T	0.047663	0.63025	D	0.379	0.69696	.	.	0.859456898039	0.85809	0.5763979672520945	0.57568	0.285405207942	0.30946	0.3282148242	0.14664	T	0.78149	0.94236	D	-0.183083	0.23279	T	-0.0292229	0.68420	D	0.0434944579818931	0.04328	T	0.763824	0.54393	T	0.19971867	0.41922	0.28522268	0.54524	0.29414797	0.52375	0.26177776	0.51959	-10.874	0.78962	D	0.3007110421774146	0.39804	0.222	0.50204	B	.;.;.;.;.	.;.;.;.;.	3.634912	0.51511	23.1	0.99511564752947046	0.68678	0.98956	0.89144	D	AEFBI	0.913498	0.87556	D	0.21699784756795	0.52023	3.379	0.239853435129963	0.52075	3.384809	0.999999998858826	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	9.201000	0.94154	9.957000	0.82769	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.042000	0.14466	0.0:0.0:1.0:0.0	19.185	0.93627	334	0.86273	Cadherin-like|Cadherin conserved site|Cadherin-like;Cadherin-like|Cadherin conserved site|Cadherin-like;Cadherin-like|Cadherin conserved site|Cadherin-like;Cadherin-like|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	1	0	0	0	0	1	0	0.003525	0.000000	0.006793	0.002924	0.050000	0.008621	0.003049	0.000000	0.05263	4813.81	34	chr16	68822063	.	G	A	4813.81	.	AC=2;AF=0.053;AN=38;DP=795;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.26;SOR=0.859	GT:AD:DP:GQ:PL	1/1:0,154:154:99:4841,462,0	18	1	0	0
chr16	71478272	71478272	-	C	exonic	ZNF19	.	frameshift insertion	ZNF19:NM_006961:exon5:c.229dupG:p.A77Gfs*4	.	424	1080	18	0	0	18	0.00826446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.000998403	0.0011	9.852e-05	0.0003	0	0	0.0006	0.0022	0.0049	0.0009508	147	154602	rs560107561	0.0006	0.0006	0.0004	0.0008	0.0052	0.0006	0.0006	0.0048	0.0046	5.974e-05	0.0004	0.0015	0	0	0.0050	0.0003	0.0010	0.0052	0.0005	0.0005	0.0005	0.0005	0.0058	0.0004	0.0004	0.0041	0.0036	2.409e-05	0	0.0005	0.0017	0	9.454e-05	0.0034	0.0004	0.0005	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006546	0.000000	0.005435	0.011696	0.050000	0.017241	0.003049	0.003788	0.05263	4233.77	35	chr16	71478272	.	G	GC	4233.77	.	AC=2;AF=0.053;AN=38;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.81;SOR=0.728	GT:AD:DP:GQ:PL	1/1:0,114:114:99:4261,343,0	18	1	0	0
chr16	81044660	81044660	G	T	exonic	ATMIN	.	nonsynonymous SNV	ATMIN:NM_001300728:exon4:c.G1694T:p.G565V,ATMIN:NM_015251:exon4:c.G2162T:p.G721V	.	419	1072	30	1	0	32	0.0147059	.	.	.	2817835	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.182	0.0285652153604	0.0028	0.000998403	0.0028	0.0004	0.0017	0	0.0003	0.0026	0.0044	0.0082	0.0026132	404	154602	rs142359892	0.0032	0.0032	0.0030	0.0034	0.0149	0.0031	0.0031	0.0124	0.0114	0.0002	0.0018	0.0039	5.038e-05	0.0004	0.0149	0.0031	0.0026	0.0093	0.0022	0.0022	0.0022	0.0023	0.0072	0.0020	0.0020	0.0054	0.0047	0.0006	0.0011	0.0033	0.0035	0	0.0002	0	0.0031	0.0028	0.0072	0.001	0.78490	D	0.007	0.69154	D	0.926	0.51467	P	0.556	0.49411	P	0.000496	0.43931	D	0.264010	1	0.81001	D	2.255	0.64187	M	1.33	0.35031	T	-2.37	0.55983	N	0.625	0.63968	-0.8028	0.54979	T	0.132	0.44425	T	10	0.0107753575	0.00238	T	0.028565	0.51224	D	0.182	0.45420	.	.	0.390060412749	0.38622	0.46531616243243623	0.46450	0.163159783007	0.18410	0.529859542847	0.43014	T	0.59588	0.86976	D	-0.356533	0.04330	T	-0.278938	0.46914	T	0.0609026694323908	0.07310	T	0.884312	0.60710	D	0.22300273	0.44911	0.38960963	0.63777	0.22300273	0.44911	0.38960963	0.63776	-4.925	0.40707	T	.	.	0.234	0.53656	B	.;.;.	.;.;.	3.426534	0.47601	22.5	0.99463795725583259	0.65944	0.97813	0.77322	D	AEFDGBI	0.546780	0.56074	D	0.46586975631541	0.65109	4.781305	0.444916873534928	0.64391	4.693239	0.957404612360049	0.28302	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.02	2.8	0.31881	5.651000	0.67625	5.650000	0.49179	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0666:0.2421:0.6913:0.0	12.354	0.54492	686	0.59327	.;.;.	.	.	.	.	.	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	0.007056	0.000000	0.009511	0.008772	0.000000	0.017241	0.012195	0.003788	0.02632	3143.33	36	chr16	81044660	.	G	T	3143.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.574;DP=1032;ExcessHet=0;FS=3.761;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=0;QD=13.97;ReadPosRankSum=0.481;SOR=0.965	GT:AD:DP:GQ:PL	0/1:106,119:225:99:3157,0,2762	18	0	1	0
chr16	88436564	88436578	CTTCCCGGGAACACC	-	exonic	ZNF469	.	nonframeshift deletion	ZNF469:NM_001367624:exon3:c.9094_9108del:p.L3032_T3036del	Brittle cornea syndrome 1, Autosomal recessive	0	1473	47	2	0	51	0.017017	.	.	.	132460	not_provided|Keratoconus_1|Ehlers-Danlos_syndrome|not_specified|Cardiovascular_phenotype|Brittle_cornea_syndrome_1	MedGen:C3661900|MONDO:MONDO:0007851,MedGen:C1835677,OMIM:148300|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0046	0.0012	0.0028	0	0	0.0043	0.0060	0.0060	0.0003842	10	26028	rs1483100952	0.0025	0.0024	0.0023	0.0028	0.0212	0.0025	0.0024	0.0182	0.0170	0.0012	0.0022	0.0050	0	0.0002	0.0212	0.0023	0.0033	0.0061	0.0021	0.0021	0.0018	0.0023	0.0073	0.0019	0.0018	0.0054	0.0047	0.0005	0.0055	0.0020	0.0035	0.0002	9.406e-05	0.0272	0.0029	0.0014	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	7059.79	62	chr16	88436563	.	GCTTCCCGGGAACACC	G	7059.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.71;DP=1329;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=-0.613;SOR=0.648	GT:AD:DP:GQ:PL	0/1:113,85:198:99:3214,0,4488	17	0	2	0
chr16	88533626	88533631	GGGCGC	-	exonic	ZFPM1	.	nonframeshift deletion	ZFPM1:NM_153813:exon10:c.1668_1673del:p.A562_G563del	.	429	1086	4	1	2	8	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0147	0.00299521	0.0001	0.0012	0	0	0	0	0	0.0001	0.0005763	15	26028	rs535185501	0.0002	0.0003	0.0002	0.0002	0.0045	0.0002	0.0002	0.0038	0.0036	0.0045	0.0004	0	0.0002	4.331e-05	0.0011	0.0001	0.0005	0.0003	0.0012	0.0012	0.0013	0.0012	0.0042	0.0011	0.0010	0.0037	0.0035	0.0042	0	0.0003	0	0	0	0	5.964e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1909.29	41	chr16	88533625	.	AGGGCGC	A	1909.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.015;DP=735;ExcessHet=0;FS=0.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=24.17;ReadPosRankSum=3.75;SOR=0.596	GT:AD:DP:GQ:PL	0/1:31,48:79:99:1923,0,1157	18	0	1	0
chr16	88737956	88737956	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon8:c.G998A:p.R333H	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	425	1083	14	0	0	14	0.00642202	.	.	.	703893	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.083	.	0.0079	0.00798722	0.0055	0.0135	0.0213	0	0	0.0063	0.0069	0.0023	0.0018111	280	154602	rs139099911	0.0056	0.0053	0.0058	0.0055	0.0137	0.0055	0.0055	0.0127	0.0122	0.0137	0.0080	0.0037	0.0002	0.0011	0.0127	0.0059	0.0067	0.0021	0.0082	0.0082	0.0087	0.0077	0.0139	0.0078	0.0077	0.0130	0.0126	0.0139	0	0.0106	0.0012	0	0.0007	0.0238	0.0067	0.0118	0.0014	0.659	0.04713	T	0.192	0.28300	T	0.039	0.21116	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.255	0.09829	N	-0.66	0.72348	T	-0.97	0.25770	N	0.19	0.20793	-1.0317	0.19905	T	0.078	0.31072	T	9	0.0027179718	0.00042	T	.	.	.	0.083	0.24192	.	.	0.082315109003	0.07666	0.30635840609970894	0.30548	.	.	0.269693553448	0.06102	T	0.002959	0.02360	T	-0.545696	0.00310	T	-0.543657	0.17939	T	4.05406462959945e-05	0.00000	T	0.627137	0.24302	T	0.018275071	0.00348	0.023404123	0.00354	0.018275071	0.00348	0.023404123	0.00354	-3.628	0.18263	T	0.27473062936333154	0.36900	0.077	0.06479	B	.	.	0.091030	0.04949	1.517	0.783837323093733	0.12277	0.04719	0.10413	N	AEFDGBCI	0.110113	0.21848	N	-1.37552186590158	0.02868	0.1273059	-1.31995480069791	0.04172	0.1962572	0.895875410947873	0.25964	0.741868	0.97996	0	0.577304	0.33150	0	0.774882	0.98623	0	0.691587	0.68394	0	.	.	5.21	0.878	0.18285	-0.415000	0.07170	-1.706000	0.04878	-0.927000	0.02165	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6842:0.0:0.3158	8.624	0.33039	856	0.34373	.	.	.	.	.	.	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	1	0	0.016129	0.047619	0.013514	0.012500	0.083333	0.000000	0.000000	0.000000	0.02632	1389.33	79	chr16	88737956	.	C	T	1389.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.09;DP=1371;ExcessHet=0;FS=1.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=-1.873;SOR=0.834	GT:AD:DP:GQ:PL	0/1:49,48:97:99:1403,0,1199	18	0	1	0
chr16	88805794	88805794	C	T	exonic	CDT1	.	nonsynonymous SNV	CDT1:NM_030928:exon5:c.C757T:p.R253C	Meier-Gorlin syndrome 4, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1032974	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.134	0.0153964741361	0.0002	.	9.211e-05	0.0003	8.703e-05	0.0003	0	6.115e-05	0	0	9.06e-05	14	154602	rs143284523	6.092e-05	6.088e-05	7.083e-05	5.092e-05	0.0009	5.031e-05	4.675e-05	0.0003	0.0002	0.0003	0.0003	0	0.0002	0	0.0009	4.137e-05	6.625e-05	0	0.0001	0.0001	0.0002	8.067e-05	0.0003	8.663e-05	7.255e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	8.818e-05	0.0005	0	0.135	0.26192	T	0.09	0.40267	T	0.75	0.43260	P	0.271	0.39904	B	0.000253	0.46924	N	0.177478	0.997641	0.44063	D	1.9	0.50570	L	1.48	0.31731	T	-4.25	0.76094	D	0.223	0.25006	-1.0993	0.04177	T	0.043	0.18659	T	10	0.14731556	0.27916	T	0.015396	0.36109	T	0.134	0.36365	.	.	0.563173181975	0.55979	0.5149894818215873	0.51421	0.0151872281652	0.01440	0.286704361439	0.08444	T	0.126572	0.45304	T	-0.358945	0.04189	T	-0.384626	0.35181	T	0.340185880661011	0.26631	T	0.892211	0.62852	D	0.18199979	0.39397	0.12291496	0.29645	0.18199979	0.39397	0.12291496	0.29644	-10.502	0.76859	D	0.14600391862078166	0.16807	0.098	0.16054	B	.	.	3.519681	0.49330	22.8	0.99167246929954389	0.54269	0.87868	0.47558	D	AEFDBCI	0.439385	0.49838	N	-0.189383678693764	0.33575	1.906418	-0.205115020570351	0.31352	1.773494	0.999998559392731	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.83	1.42	0.21524	3.284000	0.51413	0.577000	0.19666	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.584000	0.30992	0.3918:0.3821:0.125:0.1011	2.562	0.04484	809	0.43032	CDT1 Geminin-binding domain-like|CDT1 Geminin-binding domain-like	.	.	.	.	.	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	0.001514	0.005051	0.000000	0.005882	0.000000	0.000000	0.000000	0.000000	0.02632	1199.33	99	chr16	88805794	.	C	T	1199.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=1413;ExcessHet=0;FS=2.918;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.605;SOR=1.106	GT:AD:DP:GQ:PL	0/1:42,44:86:99:1213,0,961	18	0	1	0
chr16	89228044	89228044	A	G	exonic	ZNF778	.	nonsynonymous SNV	ZNF778:NM_182531:exon6:c.A1672G:p.I558V,ZNF778:NM_001201407:exon7:c.A1756G:p.I586V,ZNF778:NM_001378881:exon7:c.A1756G:p.I586V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00151873335189	.	.	2.483e-05	0.0003	0	0	0	0	0	0	1.94e-05	3	154602	rs756433028	6.958e-06	6.859e-06	8.299e-06	5.6e-06	0.0004	3.52e-06	2.57e-06	6.159e-05	3.816e-05	0.0002	0	0	0	0	0.0004	2.735e-06	0	0	3.942e-05	3.94e-05	5.138e-05	2.69e-05	0.0001	1.715e-05	1.129e-05	6.284e-05	4.3e-05	0.0001	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.03	0.55759	D	0.048	0.22112	B	0.048	0.24975	B	.	.	.	.	0.999814	0.20249	N	-0.145	0.04423	N	2.31	0.16794	T	0.79	0.01893	N	0.071	0.05414	-0.9932	0.31775	T	0.022	0.09559	T	9	0.037476003	0.02105	T	0.001519	0.02369	T	0.078	0.22779	.	.	0.445614145163	0.44183	0.005156949443750736	0.00486	0.00542763190381	0.00476	0.269835710526	0.06120	T	0.004108	0.03522	T	-0.529211	0.00388	T	-0.701759	0.05730	T	0.0772234552504507	0.09628	T	0.050195	0.00356	T	0.012731528	0.00040	0.027258797	0.00865	0.012731528	0.00040	0.027258797	0.00865	-2.848	0.08634	T	.	.	0.106	0.19760	B	.;.;.	.;.;.	0.772591	0.11424	8.034	0.99853216924116295	0.93191	0.00429	0.02107	N	AEBHCI	0.028654	0.02565	N	-0.506205424172264	0.21879	1.164341	-0.444534217242911	0.23705	1.294093	0.459895371663088	0.20615	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.11	1.11	0.19640	1.703000	0.37465	-20.000000	0.00162	-0.087000	0.16196	0.794000	0.29644	0.000000	0.08366	0.735000	0.35267	0.7279:0.0:0.2721:0.0	2.996	0.05632	819	0.41190	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	.	.	.	.	.	.	.	.	0.05263	3279.83	165	chr16	89228044	.	A	G	3279.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.79;DP=2337;ExcessHet=0.119;FS=0.456;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=0.323;SOR=0.744	GT:AD:DP:GQ:PL	0/1:67,63:130:99:1791,0,1898	17	0	2	0
chr16	89283985	89283985	T	C	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.A2557G:p.K853E,ANKRD11:NM_013275:exon9:c.A2557G:p.K853E,ANKRD11:NM_001256182:exon10:c.A2557G:p.K853E	KBG syndrome, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	YES	2814563	KBG_syndrome|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	0.00917229455327	.	.	8.244e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs779145849	1.368e-05	1.368e-05	1.225e-05	1.513e-05	0.0003	8.94e-06	7.26e-06	6.092e-05	4.042e-05	0	0	0	0	0	0.0003	5.396e-06	4.967e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.074	0.42976	T	0.877	0.48223	P	0.265	0.39681	B	0.003597	0.34740	N	0.243970	0.98202	0.24995	N	2.42	0.70002	M	1.08	0.39401	T	-0.99	0.26200	N	0.468	0.50418	-0.9106	0.46781	T	0.138	0.45602	T	10	0.20705342	0.36988	T	0.009172	0.24107	T	0.062	0.17934	0.209	0.12639	0.380246515176	0.37641	0.006275157442171364	0.00595	0.546344131152	0.51631	0.539731144905	0.44407	T	0.180976	0.53249	T	-0.166933	0.25698	T	-0.347113	0.39534	T	0.584826111793518	0.35804	D	0.867113	0.59164	D	0.12687384	0.29705	0.12645717	0.30455	0.12687384	0.29705	0.12645717	0.30454	-4.642	0.32695	T	0.5646547728790126	0.63218	0.350	0.67246	A	.;.;.;.	.;.;.;.	3.437000	0.47799	22.5	0.99844643679692902	0.92489	0.96911	0.71614	D	AEFBI	0.529385	0.55052	D	0.41748079490026	0.62384	4.453362	0.462757883732287	0.65541	4.836742	0.999280277135266	0.39007	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	4.054000	0.57146	4.245000	0.42727	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.1412:0.0:0.0:0.8588	10.808	0.45734	819	0.41190	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	4141.33	79	chr16	89283985	.	T	C	4141.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.106;DP=2386;ExcessHet=0;FS=0.408;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.206;SOR=0.735	GT:AD:DP:GQ:PL	0/1:145,174:319:99:4155,0,3530	18	0	1	0
chr17	2376152	2376152	A	C	exonic	SGSM2	.	nonsynonymous SNV	SGSM2:NM_001098509:exon18:c.A2365C:p.T789P,SGSM2:NM_001346700:exon18:c.A2365C:p.T789P,SGSM2:NM_014853:exon19:c.A2500C:p.T834P	.	414	1104	4	0	0	4	0.00180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.0251433265977	0.0006	0.000599042	0.0005	0	0.0003	0	0	0.0005	0	0.0011	0.0004398	68	154602	rs144011285	0.0003	0.0003	0.0003	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	2.987e-05	0.0002	0	0	7.498e-05	0.0007	0.0003	0.0005	0.0007	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0005	0.0004	7.22e-05	0	0.0005	0	0	0	0	0.0006	0.0005	0.0008	0.098	0.30800	T	0.213	0.26467	T	0.988	0.90584	D	0.877	0.88582	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.125	0.59049	M	3.68	0.04151	T	-2.58	0.59873	D	0.623	0.64393	-1.1504	0.01013	T	0.043	0.18368	T	10	0.21061435	0.37462	T	0.025143	0.48119	D	0.227	0.52620	.	.	0.544303689236	0.54083	0.7621731606779789	0.76165	0.591976759451	0.54614	0.8517999053	0.89886	D	0.177042	0.52720	T	-0.282481	0.10407	T	-0.260324	0.48791	T	0.181092239571574	0.19304	T	0.934107	0.75346	D	0.59391755	0.72362	0.68699676	0.81591	0.59391755	0.72363	0.68699676	0.81592	-11.179	0.81674	D	.	.	0.656	0.73475	P	.;.;.	.;.;.	4.766744	0.77121	26.6	0.99521087276763032	0.69222	0.96792	0.70964	D	AEFDBCI	0.963758	0.98574	D	0.661913883681645	0.77143	6.618105	0.650976023417332	0.78684	6.925782	0.999999999163279	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.16	5.16	0.70563	7.476000	0.80054	9.330000	0.80123	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	14.178	0.65090	675	0.60470	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC 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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2315.33	35	chr17	2376152	.	A	C	2315.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.025;DP=972;ExcessHet=0;FS=4.279;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=1.14;SOR=0.62	GT:AD:DP:GQ:PL	0/1:89,92:181:99:2329,0,2292	18	0	1	0
chr17	4933836	4933836	C	T	exonic	GP1BA	.	nonsynonymous SNV	GP1BA:NM_000173:exon2:c.C1232T:p.P411L	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	65	1432	9	3	13	28	0.00521014	.	.	.	256258	not_provided|Bernard_Soulier_syndrome|GP1BA-related_disorder	MedGen:C3661900|MONDO:MONDO:0009276,MeSH:D001606,MedGen:C0005129,OMIM:231200,Orphanet:274|.	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.223	0.409234085502	0.0003	0.00179712	0.0011	0	0.0003	0	0	0.0008	0.0013	0.0043	0.0005379	14	26028	rs139921368	0.0007	0.0007	0.0006	0.0009	0.0103	0.0007	0.0007	0.0081	0.0073	3.218e-05	0.0004	0.0062	0	9.22e-05	0.0103	0.0003	0.0012	0.0054	0.0006	0.0007	0.0007	0.0005	0.0043	0.0005	0.0004	0.0028	0.0023	0	0	0.0004	0.0088	0	0.0001	0.0038	0.0005	0.0005	0.0043	0.001	0.78490	D	0.008	0.79402	D	.	.	.	.	.	.	0.060994	0.22206	N	0.231856	0.977361	0.39360	D	1.79	0.46772	L	-0.5	0.70480	T	-2.75	0.58407	D	0.079	0.10198	-0.3202	0.74416	T	0.392	0.74561	T	10	0.007501811	0.00171	T	0.409234	0.93562	D	0.223	0.52023	.	.	0.860402054649	0.85905	0.1318105993614151	0.13106	0.110247832495	0.12439	0.180596113205	0.00099	T	0.525591	0.83488	D	-0.400171	0.02309	T	-0.349068	0.39312	T	0.0561652924732646	0.06551	T	0.882812	0.60417	D	0.07960413	0.18194	0.087891996	0.20460	0.09520517	0.22400	0.0975654	0.23228	-6.348	0.49102	T	0.3752944579353178	0.47036	0.100	0.17232	B	.;.	.;.	0.453327	0.08233	4.973	0.87633912005926262	0.17369	0.34515	0.25086	N	AEFBCI	0.085307	0.17292	N	-0.0820000087491434	0.38183	2.232379	-0.223685744150735	0.30689	1.730123	0.996179405134013	0.34572	0.660377	0.49826	0	0.694456	0.67091	0	0.536957	0.11973	0	0.664235	0.64389	0	.	.	4.75	4.75	0.59954	0.328000	0.19425	-0.427000	0.09246	-0.984000	0.01883	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	13.233	0.59383	393	0.83123	.;.	.	.	.	.	.	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	0.006042	0.000000	0.006793	0.023392	0.000000	0.017241	0.000000	0.003788	0.02778	2341.82	33	chr17	4933836	.	C	T	2341.82	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.075;DP=1454;ExcessHet=0.1259;FS=1.102;InbreedingCoeff=0.1556;MLEAC=1;MLEAF=0.028;MQ=59.56;MQRankSum=1.38;QD=11.1;ReadPosRankSum=-1.08;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,80:158:99:.:.:2355,0,2245:.	17	0	1	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	5800.48	202	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	5800.48	.	AC=25;AF=0.694;AN=36;DP=3235;ExcessHet=0.004;FS=0;InbreedingCoeff=0.5476;MLEAC=26;MLEAF=0.722;MQ=59.7;MQRankSum=-0.138;QD=3.33;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:1,66:173:99:0|1:4933907_ACCACCCCAGAGCCCAC_*:6131,3379,3062:4933907	3	10	5	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7941	2221.85	202	chr17	4933915	.	A	*	2221.85	.	AC=27;AF=0.794;AN=34;BaseQRankSum=1.15;DP=3213;ExcessHet=0.1688;FS=0;InbreedingCoeff=0.103;MLEAC=29;MLEAF=0.853;MQ=59.38;MQRankSum=-0.322;QD=1.2;ReadPosRankSum=2.42;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,106:173:99:0|1:4933907_ACCACCCCAGAGCCCAC_*:4300,0,165:4933907	1	11	5	2
chr17	5108940	5108940	G	A	exonic	ZNF232	.	nonsynonymous SNV	ZNF232:NM_001320952:exon3:c.C611T:p.P204L,ZNF232:NM_001320955:exon3:c.C527T:p.P176L,ZNF232:NM_014519:exon4:c.C611T:p.P204L,ZNF232:NM_001320953:exon5:c.C530T:p.P177L,ZNF232:NM_001320954:exon5:c.C530T:p.P177L	.	417	1101	4	0	0	4	0.00181324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0604894586746	.	0.000998403	0.0006	0	8.637e-05	0	0	0.0002	0	0.0031	0.0004981	77	154602	rs149710317	0.0004	0.0004	0.0003	0.0005	0.0062	0.0004	0.0004	0.0046	0.0041	0	4.472e-05	0.0001	0	0	0.0062	0.0002	0.0005	0.0036	0.0002	0.0002	0.0002	0.0003	0.0048	0.0002	0.0002	0.0033	0.0028	0	0	6.536e-05	0.0003	0	0	0.0034	0.0002	0	0.0048	0.765	0.03431	T	0.366	0.16668	T	.	.	.	.	.	.	0.104292	0.19710	N	0.271355	0.999054	0.45965	D	.	.	.	3.16	0.07711	T	0.62	0.02442	N	0.217	0.24260	-0.9856	0.33687	T	0.011	0.04042	T	10	0.0038862824	0.00074	T	0.060489	0.68019	D	0.094	0.27141	.	.	0.0297737177859	0.01360	0.2777137317567188	0.27684	0.2197955663	0.24518	0.326052337885	0.14337	T	0.003194	0.02596	T	-0.644636	0.00078	T	-0.702429	0.05694	T	0.0388728978443438	0.03488	T	0.468553	0.13811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30582	B	.;.	.;.	1.653020	0.21087	15.04	0.97580722171742107	0.34736	0.73162	0.35791	D	AEFDBI	0.049833	0.08648	N	-0.661643647908694	0.17122	0.8783616	-0.543791477222628	0.20970	1.132274	0.14231288637056	0.17296	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	3.84	2.86	0.32427	1.611000	0.36490	1.033000	0.23495	0.662000	0.56354	0.343000	0.25700	0.015000	0.20450	1.000000	0.97212	0.1127:0.0:0.6835:0.2038	5.179	0.14477	599	0.68140	.;.	.	.	.	.	.	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	0.004532	0.000000	0.004076	0.011696	0.000000	0.017241	0.000000	0.003788	0.02632	1013.33	33	chr17	5108940	.	G	A	1013.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.329;DP=694;ExcessHet=0;FS=2.195;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=1.66;SOR=0.395	GT:AD:DP:GQ:PL	0/1:28,40:68:99:1027,0,779	18	0	1	0
chr17	7586913	7586913	G	C	exonic	MPDU1	.	nonsynonymous SNV	MPDU1:NM_004870:exon5:c.G403C:p.A135P	Congenital disorder of glycosylation, type If, Autosomal recessive	0	1516	5	1	0	7	0.00230339	.	.	.	101080	MPDU1-congenital_disorder_of_glycosylation|not_specified|not_provided	MONDO:MONDO:0012211,MedGen:C1836669,OMIM:609180,Orphanet:79323|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.256	.	0.0008	0.0161741	0.0042	0.0017	0.0003	0.0522	0	1.503e-05	0.0022	0.0020	0.0043725	676	154602	rs137983973	0.0015	0.0015	0.0016	0.0015	0.0401	0.0015	0.0015	0.0385	0.0378	0.0007	0.0001	0	0.0401	0	0.0002	2.158e-05	0.0063	0.0026	0.0026	0.0026	0.0023	0.0029	0.0579	0.0024	0.0023	0.0525	0.0504	0.0014	0	0.0006	0	0.0579	0	0	1.471e-05	0.0043	0.0044	0.082	0.33254	T	0.194	0.28120	T	0.008	0.14655	B	0.016	0.17743	B	0.815376	0.09219	N	0.919308	0.703499	0.33445	D	2.135	0.59519	M	-1.02	0.89757	T	-2.46	0.53736	N	0.745	0.74462	-0.7373	0.58591	T	0.189	0.54034	T	10	0.003244996	0.00055	T	.	.	.	0.503	0.78538	.	.	0.771468116439	0.76937	0.8378023048470213	0.83740	0.467872825609	0.46150	0.310905426741	0.12044	T	0.077252	0.45655	T	-0.146775	0.28819	T	0.0581269	0.74120	D	0.033098506086277	0.02488	T	0.668933	0.28201	T	0.2399086	0.46888	0.38694656	0.63575	0.3057495	0.53415	0.4921482	0.70624	-12.074	0.85209	D	0.4213529673471402	0.51008	0.533	0.66033	A	.;.	.;.	2.130187	0.27123	17.35	0.92551991003991496	0.22001	0.64220	0.32337	D	ALL	0.657111	0.62886	D	-0.396375542747119	0.25599	1.390747	-0.391356152701008	0.25253	1.387677	0.999999999999853	0.74766	0.77792	0.99625	0	0.697927	0.68747	0	0.854111	0.99894	0	0.714379	0.83352	0	.	.	5.51	4.52	0.54797	3.084000	0.49841	4.434000	0.43361	0.676000	0.76740	0.343000	0.25700	0.925000	0.28409	0.803000	0.37862	0.0:0.0:0.8191:0.1809	11.330	0.48710	496	0.76301	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2573.33	40	chr17	7586913	.	G	C	2573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.532;DP=888;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.475;SOR=0.688	GT:AD:DP:GQ:PL	0/1:97,94:191:99:2587,0,2502	18	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,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	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	1	0	0.003525	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1959.33	36	chr17	8149597	.	C	T	1959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.468;DP=843;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=-1.697;SOR=0.701	GT:AD:DP:GQ:PL	0/1:52,72:124:99:1973,0,1248	18	0	1	0
chr17	8797460	8797460	G	A	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.C1661T:p.S554L	.	423	1078	19	2	0	23	0.0105553	.	.	.	1222401	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.776	.	0.0027	0.0353435	0.0166	0.0013	0.0014	0.0853	0.0003	0.0030	0.0167	0.0643	0.0151874	2348	154602	rs74899363	0.0093	0.0093	0.0076	0.0110	0.0960	0.0092	0.0091	0.0935	0.0925	0.0008	0.0013	0.0119	0.0960	0.0001	0.0055	0.0028	0.0120	0.0642	0.0074	0.0074	0.0062	0.0086	0.0910	0.0070	0.0069	0.0842	0.0816	0.0010	0	0.0024	0.0133	0.0910	0	0.0034	0.0027	0.0057	0.0684	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.78936	D	0.000005	0.62929	D	0.000000	8.77062e-07	0.58761	P	2.865	0.83145	M	-3.67	0.95247	D	-3.46	0.67705	D	0.206	0.22870	-0.4002	0.72020	T	0.210	0.56973	T	9	0.008387089	0.00190	T	.	.	.	0.776	0.92501	.	.	.	.	0.33468370261142605	0.33381	0.433029098723	0.43471	0.449397563934	0.31862	T	0.193194	0.54858	T	-0.114371	0.34047	T	0.14979	0.80171	D	0.0235531200911232	0.01090	T	0.69643	0.30590	T	0.6479231	0.75253	0.55815005	0.74439	0.6479231	0.75254	0.55815005	0.74440	-8.647	0.65398	D	.	.	0.176	0.38516	B	.	.	4.447680	0.69110	25.3	0.99906706232731657	0.97726	0.96231	0.68139	D	AEFDBCI	0.896745	0.83813	D	0.680308490086659	0.78343	6.852232	0.612556857862348	0.75850	6.384225	0.999994391301051	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.49644	0.08281	0	0.542086	0.14980	0	.	.	5.03	5.03	0.67015	8.876000	0.92010	6.301000	0.55413	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.615000	0.31768	0.0:0.0:1.0:0.0	17.306	0.87082	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	0.012588	0.000000	0.001359	0.005848	0.000000	0.025862	0.015244	0.045455	0.02632	1571.33	46	chr17	8797460	.	G	A	1571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=833;ExcessHet=0;FS=0.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=1.04;SOR=0.766	GT:AD:DP:GQ:PL	0/1:103,65:168:99:1585,0,2595	18	0	1	0
chr17	9857511	9857511	G	A	exonic	GLP2R	.	nonsynonymous SNV	GLP2R:NM_004246:exon6:c.G700A:p.V234I	.	427	1072	21	2	0	25	0.011526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0047	0.00419329	0.0080	0.0004	0.0010	0	0.0187	0.0071	0.0088	0.0210	0.0072121	1115	154602	rs61730822	0.0053	0.0053	0.0047	0.0060	0.0205	0.0052	0.0052	0.0197	0.0194	0.0005	0.0011	0.0064	5.038e-05	0.0172	0.0057	0.0041	0.0039	0.0205	0.0051	0.0051	0.0045	0.0057	0.0193	0.0048	0.0047	0.0161	0.0149	0.0006	0	0.0012	0.0037	0.0002	0.0175	0	0.0064	0.0033	0.0193	0.371	0.11514	T	0.56	0.22627	T	0.028	0.19712	B	0.021	0.19346	B	0.190017	0.16872	N	0.434889	1	0.08975	N	0.61	0.15665	N	1.15	0.45248	T	0.27	0.04306	N	0.063	0.05670	-1.0347	0.18951	T	0.039	0.16763	T	10	0.0036627948	0.00067	T	.	.	.	0.060	0.17295	.	.	0.476364732183	0.47263	0.0847454450444423	0.08408	0.238286903455	0.26374	0.291410237551	0.09127	T	0.040885	0.25675	T	-0.644047	0.00079	T	-0.681649	0.06884	T	0.000678992996314219	0.00006	T	0.686031	0.51512	T	0.022864567	0.00981	0.034941487	0.02653	0.022864567	0.00981	0.034941487	0.02653	-5.195	0.38891	T	.	.	0.070	0.06710	B	.;.;.	.;.;.	0.655718	0.10239	6.978	0.86854329371311922	0.16818	0.04631	0.10296	N	AEFGBI	0.068523	0.13520	N	-0.847650686937809	0.12108	0.588198	-0.814886138503196	0.14135	0.7370068	5.87251080179806E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.28	0.641	0.16930	-0.097000	0.11010	0.155000	0.15338	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.962000	0.52141	0.2648:0.0:0.7352:0.0	11.531	0.49862	940	0.13648	GPCR, family 2-like;GPCR, family 2-like;GPCR, family 2-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	0.011078	0.005051	0.004076	0.014620	0.000000	0.008621	0.015244	0.018939	0.05263	4276.83	35	chr17	9857511	.	G	A	4276.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.69;DP=939;ExcessHet=0.119;FS=0.408;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.475;SOR=0.731	GT:AD:DP:GQ:PL	0/1:81,69:150:99:1779,0,1961	17	0	2	0
chr17	15596536	15596536	A	G	exonic	CDRT1	.	nonsynonymous SNV	CDRT1:NM_001282540:exon9:c.T1682C:p.I561T,CDRT1:NM_006382:exon9:c.T1682C:p.I561T	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.014945033738	.	0.000199681	0.0001	0	0.0005	0	0	6.765e-05	0	0.0006	7.68e-05	2	26028	rs556615038	0.0001	0.0001	8.069e-05	0.0001	0.0004	8.701e-05	8.187e-05	0.0003	0.0003	9.023e-05	0.0002	0	0	0	0.0002	7.779e-05	0.0002	0.0004	8.548e-05	8.531e-05	9.006e-05	8.07e-05	0.0006	4.961e-05	3.965e-05	0.0002	9.04e-05	2.412e-05	0	6.536e-05	0	0	0	0.0034	0.0001	0	0.0006	0.031	0.54683	D	0.083	0.52389	T	0.11	0.31319	B	0.025	0.25678	B	0.041494	0.01892	U	2.614030	1	0.08975	N	1.07	0.27075	L	2.19	0.46777	T	-2.31	0.58085	N	0.102	0.12341	-1.0239	0.22443	T	0.047	0.20275	T	10	0.023156911	0.00598	T	0.014945	0.35393	T	0.038	0.09825	.	.	0.0482279557977	0.04254	0.5342365543681955	0.53348	.	.	0.288813471794	0.08750	T	0.008632	0.07910	T	-0.44366	0.01231	T	-0.540913	0.18206	T	0.0297904587917618	0.01957	T	0.534647	0.17878	T	0.055843852	0.10909	0.083802626	0.19233	0.055843852	0.10909	0.083802626	0.19233	-8.586	0.64996	D	.	.	0.107	0.50645	B	.;.;.;.;.	.;.;.;.;.	0.792865	0.11633	8.220	0.60858693291211297	0.06566	0.03476	0.08635	N	AEFGI	0.067485	0.13268	N	-0.745364849783276	0.14759	0.7379745	-0.762733928754893	0.15410	0.8103182	6.03680421327724E-5	0.04171	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.78	3.7	0.41607	0.790000	0.26562	2.280000	0.31891	0.747000	0.86732	0.000000	0.06391	0.001000	0.17328	0.081000	0.17303	0.8245:0.0:0.1755:0.0	7.835	0.28525	793	0.45818	WD40-repeat-containing domain;.;WD40-repeat-containing domain;WD40-repeat-containing 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	.	.	.	.	.	.	.	.	0.02632	954.33	40	chr17	15596536	.	A	G	954.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.267;DP=776;ExcessHet=0;FS=0.804;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=42.44;MQRankSum=0.437;QD=8.45;ReadPosRankSum=0.073;SOR=0.818	GT:AD:DP:GQ:PL	0/1:76,37:113:99:968,0,2286	18	0	1	0
chr17	16940505	16940505	G	A	exonic	TNFRSF13B	.	nonsynonymous SNV	TNFRSF13B:NM_012452:exon4:c.C452T:p.P151L	Immunodeficiency, common variable, 2, Autosomal recessive, Autosomal dominant;Immunoglobulin A deficiency 2	0	1520	1	1	0	3	0.000985869	.	.	.	537279	not_provided|Immunodeficiency,_common_variable,_2	MedGen:C3661900|MONDO:MONDO:0009413,MedGen:C3150354,OMIM:240500,Orphanet:1572	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.0237886713449	.	0.000199681	0.0001	0	0.0002	0.0002	0	9.595e-05	0	0.0002	9.06e-05	14	154602	rs200037919	7.666e-05	7.798e-05	7.627e-05	7.705e-05	0.0003	6.494e-05	6.073e-05	0.0001	0.0001	0	0.0002	0	0.0002	0	0.0003	5.576e-05	0.0003	0.0002	6.567e-05	6.562e-05	8.996e-05	4.03e-05	0.0002	3.515e-05	2.615e-05	3.763e-05	2.575e-05	0	0	0.0001	0	0.0002	0	0	8.822e-05	0.0005	0	0.568	0.06223	T	0.294	0.20745	T	0.005	0.15093	B	0.001	0.08700	B	0.493811	0.12027	N	0.731309	1	0.08975	N	0.55	0.14455	N	-3.05	0.92407	D	-0.09	0.08340	N	0.18	0.20793	-0.6436	0.62992	T	0.508	0.81469	D	10	0.031306446	0.01264	T	0.023789	0.46765	T	0.094	0.27141	.	.	0.475352637851	0.47162	0.1525459764576454	0.15176	0.0117302254037	0.01102	0.422643899918	0.28200	T	0.082748	0.36898	T	-0.238387	0.15554	T	-0.286716	0.46114	T	0.00636678146414989	0.00071	T	0.653235	0.26349	T	0.033698205	0.03642	0.031280894	0.01694	0.033698205	0.03641	0.031280894	0.01694	-3.554	0.17196	T	0.15567570091871408	0.18678	0.084	0.09820	B	.;.	.;.	1.029951	0.14100	10.67	0.79617044199393039	0.12823	0.03550	0.08749	N	ALL	0.028069	0.02405	N	-1.0749268631206	0.07108	0.3292159	-1.13952661317447	0.06958	0.3366993	0.999999997774828	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.440839	0.06518	1	0.530356	0.10902	0	.	.	3.39	-0.705	0.10686	0.368000	0.20132	0.984000	0.23145	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.3748:0.0:0.3716:0.2537	2.037	0.03327	624	0.65661	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	238.33	27	chr17	16940505	.	G	A	238.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=600;ExcessHet=0;FS=1.599;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.01;ReadPosRankSum=0.492;SOR=1.022	GT:AD:DP:GQ:PL	0/1:24,10:34:99:252,0,670	18	0	1	0
chr17	18491954	18491954	G	C	exonic	LGALS9C	.	nonsynonymous SNV	LGALS9C:NM_001040078:exon8:c.G637C:p.A213P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	.	0.00678914	0.0385	0	0	0	.	0.075	0	.	0.0016905	44	26028	rs552609194	0.0094	0.0083	0.0102	0.0087	0.0086	0.0091	0.0090	0.0083	0.0081	0.0007	0.0053	0.0010	0	0.0596	0.0059	0.0086	0.0083	0.0027	0.0061	0.0090	0.0056	0.0067	0.0084	0.0055	0.0053	0.0074	0.0070	0.0004	0	0.0024	0	0.0003	0.0638	0	0.0084	0.0041	0.0027	0.185	0.21550	T	0.162	0.31225	T	0.024	0.19075	B	0.023	0.19966	B	0.161943	0.03045	N	1.742810	1	0.08975	N	0.55	0.14455	N	3.65	0.04267	T	-2.14	0.48523	N	0.096	0.10056	-0.9591	0.39349	T	0.013	0.05081	T	10	0.002552867	0.00039	T	.	.	.	0.012	0.01476	0.338	0.32816	0.082315109003	0.07666	0.13423749630695284	0.13347	.	.	0.278099834919	0.07229	T	0.025244	0.18916	T	-0.643593	0.00079	T	-0.692267	0.06258	T	0.000970885669037512	0.00009	T	.	.	.	0.15457037	0.34978	0.17447312	0.39845	0.15457037	0.34978	0.17447312	0.39844	-3.477	0.16111	T	.	.	0.092	0.15430	B	.;.;.;.	.;.;.;.	0.363857	0.07365	3.985	0.59623235249616902	0.06268	0.02121	0.06267	N	AEFI	0.114466	0.22544	N	-1.20791913335584	0.04883	0.2213574	-1.2936975738201	0.04515	0.2131434	1.11468445839869E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.79	-0.34	0.12016	-0.524000	0.06309	-1.194000	0.06060	0.311000	0.19140	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.3973:0.0:0.6026:0.0	4.156	0.09725	749	0.51929	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.04545	79.15	2	chr17	18491954	.	G	C	79.15	.	AC=1;AF=0.045;AN=22;BaseQRankSum=0.674;DP=37;ExcessHet=0;FS=0;InbreedingCoeff=-0.0864;MLEAC=2;MLEAF=0.091;MQ=29.57;MQRankSum=0.674;QD=13.19;ReadPosRankSum=-0.674;SOR=0.693	GT:AD:DP:GQ:PL	0/1:3,3:6:76:87,0,76	10	0	1	8
chr17	18978090	18978090	C	T	exonic	FAM83G	.	nonsynonymous SNV	FAM83G:NM_001039999:exon5:c.G1576A:p.V526I	.	423	1097	1	1	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0058327374735	0.0022	0.000199681	0.0018	0.0002	0.0005	0	0.0003	0.0029	0.0040	0.0002	0.0017011	263	154602	rs200309310	0.0031	0.0029	0.0032	0.0030	0.0037	0.0030	0.0029	0.0036	0.0036	0.0002	0.0009	0	0.0001	0.0002	0.0019	0.0037	0.0026	0.0002	0.0015	0.0015	0.0019	0.0012	0.0030	0.0014	0.0013	0.0026	0.0025	0.0005	0	0.0005	0	0	0.0003	0	0.0030	0.0005	0.0002	0.013	0.53900	D	0.354	0.17268	T	0.007	0.14184	B	0.006	0.12133	B	0.569218	0.05470	N	1.223120	1	0.32928	N	0	0.06538	N	2.77	0.11407	T	-0.05	0.07736	N	0.084	0.06454	-0.9511	0.40782	T	0.015	0.05994	T	10	0.0060723126	0.00136	T	0.005833	0.15161	T	0.029	0.06676	.	.	0.18995819373	0.18626	0.05163928604016741	0.05105	0.144066513154	0.16265	0.279485821724	0.07421	T	0.005939	0.05383	T	-0.688783	0.00042	T	-0.76231	0.03030	T	0.00123404099061994	0.00012	T	0.382862	0.09330	T	0.06858769	0.14955	0.049354613	0.07525	0.06858769	0.14955	0.049354613	0.07524	-4.858	0.35259	T	.	.	0.084	0.09723	B	.;.	.;.	0.392663	0.07640	4.308	0.89537222967859409	0.18882	0.16592	0.19460	N	AEFDBI	0.082534	0.16712	N	-1.00057101338548	0.08593	0.4034488	-0.97545054113417	0.10338	0.520063	0.304333362804228	0.19222	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.91	-0.803	0.10336	0.040000	0.13791	-0.514000	0.08728	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.076000	0.17014	0.0:0.531:0.1242:0.3449	5.786	0.17597	819	0.41190	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1856.33	35	chr17	18978090	.	C	T	1856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=768;ExcessHet=0;FS=1.328;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=1.71;SOR=0.662	GT:AD:DP:GQ:PL	0/1:76,66:142:99:1870,0,2166	18	0	1	0
chr17	28163584	28163584	A	G	exonic	NLK	.	nonsynonymous SNV	NLK:NM_016231:exon5:c.A793G:p.I265V	.	433	1085	3	1	0	5	0.00229885	.	.	.	2341681	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.357	0.0293693228142	0.0002	.	0.0002	0.0001	0.0001	0	0	0.0002	0	0	9.06e-05	14	154602	rs147671384	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	5.987e-05	0.0002	0.0034	0	0	0.0017	8.475e-05	0.0007	3.508e-05	0.0001	0.0001	0.0002	8.054e-05	0.0002	9.14e-05	7.697e-05	5.275e-05	2.832e-05	2.405e-05	0	0.0002	0.0035	0	0	0	7.35e-05	0	0	0.002	0.72154	D	0.005	0.72224	D	0.969	0.56768	D	0.869	0.61749	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.675	0.16386	N	0.65	0.52642	T	-0.98	0.25986	N	0.618	0.63374	-0.7796	0.56325	T	0.171	0.51261	T	10	0.19936833	0.35942	T	0.029369	0.51889	D	0.357	0.67782	.	.	0.592739828679	0.58950	0.5807861624679654	0.58007	1.9288275753	0.93111	0.785767793655	0.79800	T	0.350615	0.71831	T	-0.157814	0.27098	T	-0.195165	0.55104	T	0.0950987979039527	0.11809	T	0.934107	0.75346	D	0.5981383	0.72591	0.5174899	0.72122	0.5981383	0.72592	0.5174899	0.72122	-9.013	0.67781	D	.	.	0.321	0.54602	B	.	.	4.547594	0.71534	25.7	0.99901950835189468	0.97350	0.99531	0.97133	D	AEFBI	0.885982	0.81697	D	0.621501192808893	0.74537	6.149457	0.670063817142424	0.80110	7.227106	0.999576536142883	0.40495	0.732398	0.92422	0	0.633656	0.55848	0	0.688494	0.62686	0	0.727631	0.95156	0	.	.	5.39	5.39	0.77615	8.863000	0.91893	11.265000	0.91209	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.879	0.70153	107	0.95615	Protein kinase domain|Mitogen-activated protein (MAP) kinase, conserved site|Protein kinase domain|Protein kinase 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	0.001009	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	732.33	37	chr17	28163584	.	A	G	732.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.543;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=-0.122;SOR=0.616	GT:AD:DP:GQ:PL	0/1:48,34:82:99:746,0,1231	18	0	1	0
chr17	30203175	30203175	T	G	exonic	SLC6A4	.	nonsynonymous SNV	SLC6A4:NM_001045:exon14:c.A1815C:p.K605N	.	426	1091	5	0	0	5	0.00228624	.	.	.	343996	not_provided|Behavior_disorder	MedGen:C3661900|MedGen:C0004930	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.255	.	0.0004	0.00858626	0.0062	0	0	0.0299	0.0443	0.0026	0.0122	0.0010	0.0052845	817	154602	rs6352	0.0031	0.0031	0.0031	0.0031	0.0381	0.0030	0.0030	0.0365	0.0358	2.991e-05	2.241e-05	0	0.0381	0.0408	0.0010	0.0005	0.0031	0.0009	0.0048	0.0049	0.0029	0.0069	0.0331	0.0046	0.0044	0.0291	0.0275	4.81e-05	0	6.534e-05	0	0.0331	0.0437	0	0.0013	0.0028	0.0012	0.145	0.25154	T	0.211	0.26631	T	0.228	0.30509	B	0.323	0.41825	B	0.000000	0.84330	D	0.089003	0.999481	0.47237	D	1.65	0.42232	L	-0.87	0.74583	T	-2.74	0.58248	D	0.587	0.60749	-1.0426	0.16532	T	0.060	0.25054	T	10	0.005604863	0.00124	T	.	.	.	0.255	0.56562	0.158	0.06178	0.280695755116	0.27685	0.8949349391608091	0.89464	1.23342835763	0.81408	0.532474398613	0.43383	T	0.731039	0.92472	D	-0.394518	0.02514	T	-0.299247	0.44803	T	0.0784977814703356	0.09795	T	0.867413	0.56831	D	0.61771274	0.73641	0.39346376	0.64065	0.53450614	0.69088	0.34594852	0.60269	-9.131	0.68536	D	0.3459608604563649	0.44346	0.486	0.63923	A	.;.;.	.;.;.	2.653941	0.34557	19.66	0.98431265892724673	0.41397	0.87794	0.47456	D	AEFGBI	0.609021	0.59838	D	-0.752430573025061	0.14566	0.7267378	-0.635461719448185	0.18584	0.9934266	0.00248460145989192	0.09470	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	6.17	-0.691	0.10737	0.852000	0.27417	0.119000	0.14890	-0.859000	0.02647	1.000000	0.71638	0.944000	0.28851	0.762000	0.36218	0.0:0.5208:0.0:0.4792	11.294	0.48500	616	0.66398	.;.;.	.	.	.	.	rs6352	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	1	0	0.001514	0.000000	0.000000	0.000000	0.000000	0.000000	0.006173	0.003788	0.02632	963.33	33	chr17	30203175	.	T	G	963.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.228;DP=728;ExcessHet=0;FS=6.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.92;ReadPosRankSum=0.538;SOR=1.408	GT:AD:DP:GQ:PL	0/1:64,44:108:99:977,0,1720	18	0	1	0
chr17	34637507	34637507	G	A	exonic	TMEM132E	.	nonsynonymous SNV	TMEM132E:NM_001304438:exon9:c.G2500A:p.G834R	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00995515294654	.	.	9.604e-06	0	0	0	0	0	0.0013	0	6.5e-06	1	154602	rs780287992	1.032e-05	1.094e-05	4.103e-06	1.66e-05	0.0002	6.19e-06	4.91e-06	9.82e-05	7.861e-05	0	0	0	0	0	0	0	1.666e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.225	0.25514	T	0.022	0.18677	B	0.007	0.12992	B	0.015004	0.28367	N	0.393732	0.996684	0.43352	D	0.935	0.23595	L	2.24	0.17923	T	-1.99	0.45949	N	0.222	0.29313	-1.0762	0.08104	T	0.031	0.13242	T	10	0.12502766	0.23754	T	0.009955	0.25901	T	0.031	0.07369	0.374	0.38667	0.0846915920261	0.08053	0.5085100448541872	0.50773	1.42373316533	0.85663	0.754430174828	0.75101	T	0.009484	0.22527	T	-0.362846	0.03972	T	-0.554429	0.16902	T	0.284870535135269	0.24376	T	0.815918	0.47089	T	0.07480403	0.16812	0.23071574	0.48182	0.07480403	0.16812	0.23071574	0.48181	.	.	.	.	.	0.167	0.36732	B	.;.	.;.	3.387646	0.46888	22.4	0.99433168932899574	0.64374	0.87942	0.47660	D	AEFDBI	0.213733	0.33928	N	-0.526310562548513	0.21232	1.125286	-0.382365728687541	0.25522	1.404104	0.999998168040623	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	4.53	3.56	0.39892	1.383000	0.33992	6.603000	0.56063	-0.271000	0.06739	0.950000	0.33075	1.000000	0.68203	0.468000	0.28296	0.0849:0.0:0.9151:0.0	11.881	0.51853	970	0.06235	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1584.33	34	chr17	34637507	.	G	A	1584.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.34;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16;ReadPosRankSum=0.526;SOR=0.623	GT:AD:DP:GQ:PL	0/1:41,58:99:99:1598,0,1064	18	0	1	0
chr17	35557548	35557548	A	G	exonic	SLFN14	.	nonsynonymous SNV	SLFN14:NM_001129820:exon3:c.T515C:p.V172A	Bleeding disorder, platelet-type, 20, Autosomal dominant	432	1028	59	3	0	65	0.0306459	.	.	.	704096	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.010	.	0.0044	0.00299521	0.0061	0.0009	0.0024	0	0	0.0056	0.0158	0.0083	0.0014295	221	154602	rs139678049	0.0038	0.0036	0.0036	0.0040	0.0237	0.0037	0.0037	0.0204	0.0192	0.0009	0.0025	0.0041	2.798e-05	0.0045	0.0237	0.0036	0.0050	0.0073	0.0036	0.0036	0.0034	0.0038	0.0068	0.0033	0.0032	0.0050	0.0044	0.0007	0.0044	0.0050	0.0052	0.0002	0.0047	0.0374	0.0046	0.0052	0.0068	1.0	0.00964	T	0.915	0.02917	T	0.002	0.09854	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.46	0.12951	N	4.61	0.01851	T	0.05	0.06369	N	0.041	0.01421	-0.9040	0.47561	T	0.003	0.01059	T	9	0.0035861135	0.00065	T	.	.	.	0.010	0.01040	.	.	0.0138822411134	0.00435	0.11388721241845448	0.11316	.	.	0.366298258305	0.20299	T	0.001263	0.00750	T	-0.756657	0.00016	T	-0.855377	0.00894	T	0.00295827883729636	0.00031	T	0.285971	0.05105	T	0.03821189	0.05047	0.056199078	0.09999	0.03821189	0.05047	0.056199078	0.09999	-2.862	0.08769	T	0.09477351242601473	0.06379	0.09	0.12607	B	.	.	-0.844807	0.01022	0.043	0.54133050744978661	0.05077	0.01037	0.03880	N	AEFDGBI	0.047602	0.08034	N	-1.35534628661118	0.03070	0.1365609	-1.45076427652503	0.02763	0.1276862	0.999961712661618	0.48965	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.1	-5.53	0.02351	0.055000	0.14112	0.192000	0.15754	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.2592:0.151:0.5898:0.0	8.190	0.30522	0	0.99858	.	.	.	.	.	.	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	1	0	0.019608	0.006579	0.031915	0.022936	0.083333	0.000000	0.029412	0.014286	0.02632	1625.33	35	chr17	35557548	.	A	G	1625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.384;DP=766;ExcessHet=0;FS=3.12;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=1.08;SOR=0.978	GT:AD:DP:GQ:PL	0/1:72,63:135:99:1639,0,2011	18	0	1	0
chr17	36450228	36450228	G	C	exonic	TBC1D3D;TBC1D3G;TBC1D3H;TBC1D3I;TBC1D3J	.	nonsynonymous SNV	TBC1D3J:NM_001355571:exon11:c.C1295G:p.A432G	.	519	976	16	11	0	38	0.0190955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1405447229	0.0061	0.0059	0.0060	0.0062	0.0107	0.0060	0.0060	0.0101	0.0099	0.0014	0.0034	0.0005	0	0.0010	0.0093	0.0065	0.0059	0.0107	0.0040	0.0042	0.0042	0.0037	0.0065	0.0037	0.0036	0.0050	0.0048	0.0013	0.0370	0.0049	0.0018	0	0.0004	0	0.0054	0.0042	0.0065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	1316.59	33	chr17	36450228	.	G	C	1316.59	.	AC=2;AF=0.056;AN=36;DP=651;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.056;MQ=53.34;QD=32.11;SOR=0.843	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1343,123,0	17	1	0	1
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	11138.3	106	chr17	37257713	.	C	T	11138.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.65;DP=1868;ExcessHet=38.2876;FS=429.8;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=6.26;ReadPosRankSum=-0.138;SOR=13.755	GT:AD:DP:GQ:PL	0/1:39,50:89:99:634,0,443	1	0	18	0
chr17	37619826	37619826	T	A	exonic	DDX52	.	nonsynonymous SNV	DDX52:NM_007010:exon13:c.A1591T:p.I531L,DDX52:NM_001291476:exon14:c.A1267T:p.I423L	.	433	1076	13	0	0	13	0.00600462	.	.	.	3239966	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.227	0.0135497970259	0.0002	0.000599042	0.0007	0.0002	0.0002	0	0.0012	0.0009	0.0011	0.0012	0.0007503	116	154602	rs199573535	0.0010	0.0010	0.0009	0.0010	0.0017	0.0009	0.0009	0.0010	0.0010	0.0003	0.0004	0	5.041e-05	0.0007	0.0017	0.0010	0.0010	0.0011	0.0007	0.0007	0.0007	0.0008	0.0011	0.0006	0.0006	0.0009	0.0008	0.0003	0	0.0003	0	0.0002	0.0012	0	0.0011	0.0005	0.0004	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999923	0.51308	D	.	.	.	.	.	.	.	.	.	0.608	0.62526	-1.0349	0.18888	T	0.015	0.05849	T	10	0.068556994	0.09712	T	0.01355	0.33038	T	.	.	0.564	0.68499	0.512825096792	0.50922	0.7360196389273322	0.73546	.	.	0.804432868958	0.82639	D	.	.	.	-0.321254	0.06795	T	-0.240093	0.50790	T	0.0292296690857187	0.01873	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.43626	B	.	.	3.363315	0.46445	22.3	0.97269196317037288	0.33126	0.99044	0.90407	D	AEFGBI	0.744499	0.68747	D	-0.300784830345247	0.29119	1.612001	-0.0933666593019347	0.35664	2.065987	0.999318484597024	0.39113	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	6.843000	0.75179	7.895000	0.73253	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.899	0.63293	49	0.97662	.	.	.	.	.	.	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	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.05263	2257.83	41	chr17	37619826	.	T	A	2257.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.6;DP=782;ExcessHet=0.119;FS=2.737;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-0.592;SOR=0.872	GT:AD:DP:GQ:PL	0/1:42,49:91:99:1309,0,1085	17	0	2	0
chr17	40362975	40362975	C	T	exonic	GJD3	.	nonsynonymous SNV	GJD3:NM_152219:exon1:c.G841A:p.G281S	.	399	1111	11	1	0	13	0.00581655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0343893298681	.	0.000399361	0	0	.	0	.	0	0	0	0.001921	50	26028	rs573445596	0.0051	0.0043	0.0051	0.0051	0.0057	0.0050	0.0050	0.0056	0.0055	0.0005	0.0027	0.0024	0	0.0017	0.0054	0.0057	0.0038	0.0008	0.0030	0.0030	0.0033	0.0028	0.0049	0.0028	0.0027	0.0045	0.0043	0.0008	0.0011	0.0033	0.0014	0.0004	0.0009	0.0068	0.0049	0.0052	0.0021	.	.	.	0.554	0.09298	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	-0.145	0.04423	N	-4.31	0.97195	D	.	.	.	0.043	0.01577	.	.	.	.	.	.	.	0.0058748424	0.00131	T	0.034389	0.55641	D	.	.	.	.	0.915428574732	0.91457	0.1184518834409728	0.11772	1.25558682406	0.81889	0.762083411217	0.76240	T	0.048878	0.28145	T	-0.380717	0.03084	T	-0.317592	0.42838	T	.	.	.	0.49745	0.15470	T	0.038456775	0.05127	0.110848494	0.26732	0.038456775	0.05127	0.110848494	0.26731	-4.015	0.24027	T	.	.	0.080	0.07697	B	.	.	1.562891	0.20018	14.55	0.98781262144691018	0.46127	0.05245	0.11079	N	ALL	0.066392	0.12999	N	.	.	.	.	.	.	0.999999999757089	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	3.79	-1.57	0.08055	0.015000	0.13250	0.644000	0.20348	-0.319000	0.05888	0.008000	0.17931	0.937000	0.28687	0.856000	0.40543	0.1524:0.3191:0.0:0.5285	3.941	0.08825	311	0.87433	.	.	.	.	.	.	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	0.004049	0.000000	0.000000	0.007246	0.000000	0.000000	0.009434	0.000000	0.02632	409.33	35	chr17	40362975	.	C	T	409.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=589;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.87;SOR=0.892	GT:AD:DP:GQ:PL	0/1:16,15:31:99:423,0,321	18	0	1	0
chr17	40750953	40750953	C	A	splicing	KRT25	NM_181534:exon5:c.957+1G>T	.	.	Woolly hair, autosomal recessive 3, Autosomal recessive	436	1085	1	0	0	1	0.000460617	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381705	0.88818	D	0.310516	0.88677	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.818883	0.93690	33	0.99170220917469321	0.54355	0.97827	0.77425	D	AEFBI	.	.	.	1.0140291929147	0.96160	14.36875	0.837578632722359	0.92271	11.33051	0.999999906050853	0.74766	0.061011	0.01085	0	0.059962	0.00310	0	0.063197	0.01477	0	0.058706	0.01089	0	0.982021	0.88060	5.84	5.84	0.93373	5.765000	0.68486	7.579000	0.60911	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.402000	0.26827	0.0:1.0:0.0:0.0	20.153	0.98095	60	0.97424	.	.	.	.	.	.	Uncertain significance	1	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	.	.	.	.	.	.	.	.	0.02632	1530.33	33	chr17	40750953	.	C	A	1530.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.083;DP=788;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=1.07;SOR=0.658	GT:AD:DP:GQ:PL	0/1:81,62:143:99:1544,0,2181	18	0	1	0
chr17	41034775	41034775	G	A	exonic	KRTAP1-3	.	nonsynonymous SNV	KRTAP1-3:NM_030966:exon1:c.C47T:p.T16I	.	414	1086	22	0	0	22	0.0100273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00616161148791	0.0029	0.00139776	0.0033	0.0001	0.0015	0	0.0034	0.0052	0.0045	0.0007	0.0030724	475	154602	rs140428118	0.0035	0.0031	0.0034	0.0036	0.0121	0.0034	0.0034	0.0096	0.0087	0.0005	0.0025	0.0034	0	0.0034	0.0121	0.0038	0.0040	0.0011	0.0044	0.0040	0.0040	0.0049	0.0063	0.0041	0.0039	0.0057	0.0055	0.0012	0	0.0047	0.0023	0	0.0044	0.0130	0.0063	0.0083	0	0.12	0.27904	T	0.26	0.23029	T	.	.	.	.	.	.	.	.	.	.	0.743898	0.29707	N	.	.	.	1.37	0.34253	T	-1.31	0.32791	N	0.228	0.25622	-1.0311	0.20099	T	0.050	0.21378	T	8	0.005829096	0.00130	T	0.006162	0.16141	T	0.029	0.06676	.	.	0.248133497653	0.24425	0.06156555784959568	0.06096	0.258331040614	0.28389	0.381383240223	0.22452	T	.	.	.	-0.486527	0.00679	T	-0.470272	0.25488	T	0.0153073632625618	0.00339	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.34294	B	.	.	2.005787	0.25488	16.78	0.95457174571845038	0.26985	0.17030	0.19658	N	AEFDBI	0.071516	0.14241	N	-0.394263843179692	0.25672	1.395377	-0.355069978165731	0.26352	1.455038	0.00418958942213618	0.10449	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.17	3.21	0.35933	1.841000	0.38881	0.707000	0.20898	0.675000	0.71128	0.891000	0.31220	0.305000	0.24241	0.007000	0.07825	0.109:0.0:0.891:0.0	8.085	0.29928	447	0.79583	.	.	.	.	.	.	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	0.007553	0.000000	0.004076	0.005848	0.000000	0.008621	0.024390	0.003788	0.03846	2137.07	41	chr17	41034775	.	G	A	2137.07	.	AC=1;AF=0.038;AN=26;BaseQRankSum=1.12;DP=1602;ExcessHet=0;FS=2.704;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.038;MQ=59.31;MQRankSum=2.9;QD=12.72;ReadPosRankSum=-2.228;SOR=0.734	GT:AD:DP:GQ:PL	0/1:89,79:168:99:2148,0,2358	12	0	1	6
chr17	41382308	41382308	A	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.T65C:p.L22P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.018428726593	.	.	8.238e-06	0	0	0	0	0	0.0011	0	7.76e-05	12	154602	rs756013781	5.481e-06	0.0003	8.182e-06	2.754e-06	2.236e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.403e-06	1.659e-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	.	.	.	0.003	0.76473	D	0.976	0.58310	D	0.556	0.49411	P	.	.	.	.	0.999455	0.47118	D	1.245	0.31408	L	-1.89	0.84557	D	.	.	.	0.669	0.67736	-1.0427	0.16503	T	0.078	0.31042	T	8	0.66327584	0.70279	D	0.018429	0.40491	T	.	.	0.428	0.47515	0.761221526906	0.75905	0.03657958571385173	0.03604	0.342438391368	0.36184	0.435077399015	0.29903	T	0.021796	0.16915	T	0.121469	0.66520	D	-0.0632948	0.66101	T	0.91840136051178	0.57665	D	0.333767	0.07077	T	0.1847125	0.39799	0.32490122	0.58410	0.1847125	0.39799	0.32490122	0.58410	-3.974	0.23413	T	.	.	0.079	0.07130	B	.	.	1.715876	0.21849	15.37	0.98901740872576172	0.48199	0.67040	0.33290	D	AEFDBCI	0.211856	0.33761	N	0.136755772330337	0.48185	3.034055	0.188891208117852	0.49238	3.129369	0.733449985707655	0.23090	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	1.869000	0.39156	2.221000	0.31450	0.660000	0.55035	0.999000	0.42656	1.000000	0.68203	0.332000	0.25247	0.7462:0.1678:0.086:0.0	5.942	0.18435	167	0.93508	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1053	293.7	37	chr17	41382308	.	A	G	293.7	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-5.883;DP=1756;ExcessHet=0.7564;FS=118.901;InbreedingCoeff=-0.1222;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.236;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,34:215:99:0|1:41382308_A_G:211,0,6939:41382308	15	0	4	0
chr17	41382311	41382311	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62C:p.R21T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00843288255634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.114e-05	0.0014	3.86e-05	2.362e-05	3.828e-05	2.374e-05	2.119e-05	2.866e-05	2.541e-05	0	0	3.836e-05	2.523e-05	0	0	3.828e-05	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.28764	T	0.049	0.22227	B	0.026	0.20792	B	.	.	.	.	0.997716	0.22540	N	0.755	0.19153	N	-1.61	0.82254	D	.	.	.	0.508	0.53972	-1.0258	0.21821	T	0.039	0.16892	T	8	0.18996203	0.34618	T	0.008433	0.22307	T	.	.	0.37	0.38013	0.612421581757	0.60929	0.08565298375764323	0.08499	0.0546681382285	0.06050	0.306222051382	0.11336	T	0.02167	0.16835	T	-0.00440713	0.51045	T	-0.244107	0.50396	T	0.0275842688571556	0.01628	T	0.50295	0.15803	T	0.07200823	0.15984	0.06444694	0.12916	0.07200823	0.15984	0.06444694	0.12916	-3.403	0.15097	T	.	.	0.119	0.24294	B	.	.	1.042832	0.14237	10.81	0.88324392343806579	0.17887	0.65189	0.32654	D	AEFDBCI	0.111491	0.22072	N	-0.660458155333548	0.17157	0.8804225	-0.554068222297903	0.20697	1.116332	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1053	438.61	37	chr17	41382311	.	C	G	438.61	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-6.381;DP=1894;ExcessHet=0.7564;FS=117.824;InbreedingCoeff=-0.1166;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=0.649;SOR=10.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,34:220:99:0|1:41382308_A_G:197,0,7033:41382308	15	0	4	0
chr17	41382313	41382313	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G60C:p.E20D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0112921981246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.07059	T	0.682	0.41464	P	0.142	0.33681	B	.	.	.	.	0.995951	0.23155	N	1.1	0.28011	L	-1.61	0.82254	D	.	.	.	0.319	0.35938	-1.0787	0.07602	T	0.031	0.13330	T	8	0.1758697	0.32541	T	0.011292	0.28764	T	.	.	0.215	0.13498	0.749038299637	0.74677	0.027389334383383892	0.02688	0.0406601577266	0.04362	0.292538791895	0.09292	T	0.021114	0.16497	T	-0.035849	0.46564	T	-0.289271	0.45849	T	0.188235579082126	0.19740	T	0.391661	0.09743	T	0.077502705	0.17596	0.08187276	0.18640	0.077502705	0.17595	0.08187276	0.18640	-4.176	0.26403	T	.	.	0.107	0.19919	B	.	.	1.323781	0.17281	13.07	0.98311074385310038	0.40144	0.83088	0.42236	D	AEFDBCI	0.178885	0.30617	N	-0.267547482617439	0.30410	1.695319	-0.155453402914047	0.33199	1.896604	0.828972100147742	0.24658	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	4.2	0.48814	1.950000	0.39948	0.265000	0.16590	0.596000	0.33519	0.898000	0.31380	0.000000	0.08366	0.407000	0.26939	0.0:0.8322:0.0:0.1678	9.384	0.37494	167	0.93508	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	223.85	37	chr17	41382313	.	C	G	223.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.772;DP=1135;ExcessHet=0.119;FS=108.185;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.59;ReadPosRankSum=0.015;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,34:219:99:0|1:41382308_A_G:200,0,6999:41382308	18	0	1	0
chr17	50375775	50375775	T	A	exonic	EME1	.	nonsynonymous SNV	EME1:NM_001166131:exon2:c.T567A:p.N189K,EME1:NM_152463:exon2:c.T567A:p.N189K	.	417	1083	22	0	0	22	0.0100548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0012	0.00259585	0.0024	0.0002	0.0008	0	0	0.0014	0.0044	0.0110	0.0021474	332	154602	rs150118812	0.0016	0.0016	0.0013	0.0020	0.0120	0.0016	0.0016	0.0114	0.0111	5.974e-05	0.0008	0.0014	2.519e-05	7.489e-05	0.0080	0.0010	0.0019	0.0120	0.0012	0.0012	0.0009	0.0015	0.0129	0.0010	0.0010	0.0103	0.0094	0.0003	0	0.0007	0.0012	0.0002	0	0.0103	0.0012	0.0019	0.0129	0.324	0.13392	T	0.195	0.28032	T	0.019	0.17989	B	0.011	0.15521	B	0.006543	0.31955	N	0.241878	1	0.08975	N	1.59	0.40313	L	2.95	0.09635	T	-1.41	0.34795	N	0.047	0.02964	-1.0182	0.24301	T	0.024	0.10374	T	10	0.0027058125	0.00042	T	.	.	.	0.023	0.04649	0.179	0.08626	0.43912465853	0.43530	0.07992941132986522	0.07927	0.0700650985823	0.07848	0.287010222673	0.08489	T	0.007827	0.07211	T	-0.664322	0.00059	T	-0.717634	0.04911	T	0.00915201793787544	0.00115	T	0.383062	0.09347	T	0.06320632	0.13284	0.0655125	0.13287	0.06320632	0.13284	0.0655125	0.13287	-2.843	0.08586	T	.	.	0.138	0.30264	B	.;.;.	.;.;.	1.567081	0.20069	14.57	0.82479443836745459	0.14213	0.15640	0.19010	N	AEFBI	0.199897	0.32666	N	-0.743084202312359	0.14822	0.7416366	-0.771456895211419	0.15195	0.7979896	0.997124829741262	0.35298	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.58	3.48	0.38946	0.860000	0.27527	-0.119000	0.11742	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.460000	0.28118	0.1398:0.0:0.243:0.6172	6.473	0.21218	912	0.21483	.;.;.	.	.	.	.	.	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	0.012588	0.005051	0.012228	0.002924	0.000000	0.008621	0.021341	0.015152	0.02632	2713.33	41	chr17	50375775	.	T	A	2713.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.284;DP=935;ExcessHet=0;FS=5.744;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.762;SOR=1.064	GT:AD:DP:GQ:PL	0/1:108,100:208:99:2727,0,3225	18	0	1	0
chr17	50538171	50538171	G	A	exonic	EPN3	.	nonsynonymous SNV	EPN3:NM_017957:exon3:c.G655A:p.A219T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.0212122359536	7.7e-05	.	5.91e-05	9.934e-05	0.0002	0	0	3.067e-05	0.0011	6.158e-05	4.53e-05	7	154602	rs374859710	2.331e-05	2.599e-05	2.183e-05	2.48e-05	0.0002	1.678e-05	1.48e-05	9.823e-05	7.863e-05	8.968e-05	0.0002	0	0	0	0	6.298e-06	3.314e-05	0.0002	1.972e-05	1.97e-05	3.856e-05	0	4.827e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	1.471e-05	0	0	0.088	0.32296	T	0.028	0.54934	D	0.917	0.50750	P	0.672	0.53180	P	0.000005	0.62929	N	0.062168	0.99999	0.58761	D	2.625	0.76847	M	2.21	0.18414	T	-3.77	0.71397	D	0.641	0.65330	-0.7173	0.59595	T	0.215	0.57666	T	10	0.4195336	0.56769	T	0.021212	0.43943	T	0.193	0.47281	.	.	0.597924155889	0.59472	0.5312281341793412	0.53046	0.405051829818	0.41395	0.795867443085	0.81334	T	0.54003	0.84234	D	-0.181227	0.23552	T	-0.243051	0.50500	T	0.37366446852684	0.27938	T	0.956004	0.85735	D	0.3735266	0.58845	0.35327357	0.60892	0.3735266	0.58845	0.35327357	0.60891	-11.015	0.79740	D	.	.	0.928	0.84837	P	.;.	.;.	4.892991	0.80347	27.3	0.99646282510526674	0.77005	0.98762	0.86525	D	AEFBI	0.942710	0.94763	D	0.447331907510716	0.64053	4.651266	0.453978454592606	0.64971	4.765301	0.999999999999995	0.74766	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.68	4.68	0.58319	8.100000	0.89381	11.896000	0.99222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	17.658	0.88086	941	0.13089	Ubiquitin interacting motif|Ubiquitin interacting motif|Ubiquitin interacting motif;Ubiquitin interacting motif|Ubiquitin interacting motif|Ubiquitin interacting motif	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1009.33	37	chr17	50538171	.	G	A	1009.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.844;DP=732;ExcessHet=0;FS=5.529;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-1.248;SOR=1.329	GT:AD:DP:GQ:PL	0/1:49,39:88:99:1023,0,1232	18	0	1	0
chr17	50975899	50975899	C	T	exonic	SPAG9	.	nonsynonymous SNV	SPAG9:NM_001251971:exon24:c.G3055A:p.V1019I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0132805276289	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1048117113	6.652e-05	6.841e-05	6.282e-05	7.033e-05	0.0002	5.526e-05	5.122e-05	7.728e-05	6.022e-05	0	0	0	0	0	0.0002	7.142e-05	5.184e-05	0.0001	5.262e-05	5.254e-05	3.857e-05	6.732e-05	0.0002	2.559e-05	1.832e-05	1.972e-05	1.125e-05	7.247e-05	0	0	0	0	0	0	5.882e-05	0	0.0002	0.052	0.39097	T	0.343	0.17857	T	.	.	.	.	.	.	.	.	.	.	0.999454	0.81001	D	.	.	.	1.91	0.23283	T	-0.38	0.13418	N	0.261	0.29544	-1.0592	0.11956	T	0.153	0.48188	T	8	0.2395696	0.41099	T	0.013281	0.32560	T	0.154	0.40340	0.363	0.36874	0.415955377315	0.41215	.	.	.	.	.	.	.	.	.	.	-0.249733	0.14131	T	-0.424043	0.30613	T	0.25970369409207	0.23302	T	0.882612	0.60317	D	.	.	.	.	.	.	.	.	-3.884	0.22062	T	.	.	0.152	0.33550	B	.	.	3.952655	0.57911	23.9	0.99663132274127519	0.78074	0.98602	0.84577	D	AEFDBI	0.627890	0.61018	D	0.648524482490317	0.76272	6.456178	0.66845236709393	0.79992	7.200846	0.999999999991337	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	5.422000	0.66191	3.364000	0.37882	0.549000	0.26987	1.000000	0.71638	0.998000	0.33993	0.998000	0.85391	0.0:1.0:0.0:0.0	19.707	0.96071	933	0.16026	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1358.33	36	chr17	50975899	.	C	T	1358.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=790;ExcessHet=0;FS=5.034;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-1.384;SOR=1.232	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1372,0,1285	18	0	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Uncertain significance	1	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	.	.	.	.	.	.	.	.	0.2895	691.29	68	chr17	61968034	.	C	G	691.29	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-0.705;DP=1218;ExcessHet=25.4433;FS=198.029;InbreedingCoeff=-0.6911;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.43;SOR=10.515	GT:AD:DP:GQ:PL	0/1:34,18:52:33:33,0,440	8	0	11	0
chr17	75493089	75493089	A	T	exonic	TMEM94	.	nonsynonymous SNV	TMEM94:NM_001321148:exon15:c.A2103T:p.K701N,TMEM94:NM_001351203:exon15:c.A2103T:p.K701N,TMEM94:NM_001321149:exon16:c.A2085T:p.K695N,TMEM94:NM_001351202:exon16:c.A2025T:p.K675N,TMEM94:NM_014738:exon16:c.A2073T:p.K691N	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0218194258873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.008	0.67890	D	0.966	0.59353	D	0.395	0.50715	B	0.000000	0.84330	D	0.050402	0.99938	0.52935	D	.	.	.	0.76	0.49919	T	-2.95	0.61580	D	0.723	0.72477	-0.9553	0.40042	T	0.154	0.48360	T	10	0.5192743	0.62548	D	0.021819	0.44639	T	0.145	0.38592	0.321	0.30064	0.567930657579	0.56458	0.5598069692065623	0.55907	0.787649090982	0.65612	0.672972619534	0.63261	T	0.303215	0.67558	T	-0.199289	0.20907	T	-0.524041	0.19885	T	0.898129820823669	0.55016	D	0.927307	0.73215	D	0.40428758	0.61028	0.31461704	0.57453	0.40428758	0.61028	0.31461704	0.57452	-10.154	0.74829	D	.	.	0.688	0.72478	P	.;.;.	.;.;.	3.428633	0.47640	22.5	0.93488277129773756	0.23288	0.89331	0.49731	D	AEGBI	0.628771	0.61074	D	0.0029709180831782	0.41990	2.521709	0.0183601208305388	0.40567	2.423147	0.803456503678171	0.24227	0.706548	0.73137	0	0.724815	0.89359	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.73	2.67	0.30756	2.493000	0.44979	3.372000	0.37939	-0.576000	0.04747	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.3454:0.0:0.6546:0.0	9.831	0.40107	976	0.04745	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1902.33	37	chr17	75493089	.	A	T	1902.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.052;DP=832;ExcessHet=0;FS=5.152;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.29;ReadPosRankSum=0.857;SOR=1.265	GT:AD:DP:GQ:PL	0/1:45,65:110:99:1916,0,1187	18	0	1	0
chr17	75605864	75605864	G	A	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon20:c.G4021A:p.V1341I	.	407	1110	5	0	0	5	0.00224719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0096	0.0020	0	0	0	0.0224	0	0.0047	0.0019275	298	154602	rs193196302	0.0075	0.0067	0.0077	0.0075	0.0097	0.0074	0.0073	0.0094	0.0093	0.0020	0.0038	0.0200	0	0.0010	0.0013	0.0097	0.0089	0.0035	0.0068	0.0068	0.0074	0.0061	0.0103	0.0064	0.0063	0.0097	0.0095	0.0018	0	0.0083	0.0245	0.0002	0.0012	0	0.0103	0.0071	0.0029	.	.	.	0.0	0.92824	D	0.005	0.12996	B	0.018	0.18489	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.0075376034	0.00171	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00914	0.45546	T	.	.	.	.	.	.	.	.	.	0.69773	0.30785	T	0.0587924	0.11869	0.2652379	0.52354	0.0587924	0.11869	0.2652379	0.52353	-8.359	0.63491	D	.	.	0.120	0.33550	B	.;.;.	.;.;.	2.469450	0.31825	18.86	0.85625356662593555	0.16010	0.50179	0.28603	D	AEFDGBI	0.069964	0.13870	N	.	.	.	.	.	.	0.00517669286733197	0.10852	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	4.62	2.58	0.30011	0.256000	0.18120	2.093000	0.30559	0.672000	0.70159	0.739000	0.29016	1.000000	0.68203	0.426000	0.27362	0.1836:0.0:0.8164:0.0	9.138	0.36047	982	0.03397	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;Myosin head, motor domain|Myosin head, motor domain	RP11-449J21.3	Thyroid	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	628.33	35	chr17	75605864	.	G	A	628.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.878;DP=717;ExcessHet=0;FS=1.185;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-0.753;SOR=0.955	GT:AD:DP:GQ:PL	0/1:18,26:44:99:642,0,447	18	0	1	0
chr17	76046088	76046088	G	A	exonic	SRP68	.	nonsynonymous SNV	SRP68:NM_001260503:exon4:c.C232T:p.R78C,SRP68:NM_001260502:exon10:c.C1135T:p.R379C,SRP68:NM_014230:exon11:c.C1249T:p.R417C	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.489	0.00342867495576	0.0058	0.00259585	0.0054	0.0014	0.0029	0	0.0020	0.0080	0.0055	0.0030	0.0056274	870	154602	rs143880770	0.0075	0.0075	0.0077	0.0073	0.0090	0.0074	0.0074	0.0088	0.0087	0.0013	0.0026	0.0041	0	0.0025	0.0007	0.0090	0.0063	0.0029	0.0052	0.0053	0.0058	0.0047	0.0095	0.0049	0.0048	0.0089	0.0086	0.0014	0	0.0024	0.0032	0	0.0022	0	0.0095	0.0033	0.0035	0.001	0.78490	D	0.077	0.53426	T	0.617	0.39849	P	0.085	0.29395	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.565	0.75005	M	.	.	.	-2.64	0.56630	D	0.595	0.67045	-0.7111	0.59898	T	0.148	0.47326	T	9	0.008862287	0.00201	T	0.003429	0.07725	T	0.489	0.77656	.	.	0.42264334713	0.41881	0.4094643858051151	0.40862	0.868574480996	0.69314	0.539014339447	0.44306	T	0.230198	0.59621	T	0.0324956	0.56057	T	0.287527	0.87521	D	0.040273888658641	0.03740	T	0.892111	0.62800	D	0.36990395	0.58578	0.31441233	0.57433	0.36990395	0.58578	0.31441233	0.57433	-9.681	0.75870	D	.	.	0.610	0.74794	P	.;.;.	.;.;.	4.722605	0.75979	26.4	0.998998550898337	0.97199	0.96232	0.68144	D	AEFBI	0.669163	0.63669	D	0.442728688358695	0.63792	4.619841	0.541609875311684	0.70814	5.561058	0.122389408680373	0.16913	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	5.96	0.96695	4.606000	0.60832	9.886000	0.82236	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.8514:0.1486	14.269	0.65690	677	0.60274	.;.;.	.	.	.	.	.	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	0.001761	0.000000	0.002732	0.000000	0.000000	0.000000	0.000000	0.004167	0.02632	1749.33	36	chr17	76046088	.	G	A	1749.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=753;ExcessHet=0;FS=0.698;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=-0.62;SOR=0.807	GT:AD:DP:GQ:PL	0/1:50,67:117:99:1763,0,1078	18	0	1	0
chr17	76079939	76079939	G	A	exonic	ZACN	.	nonsynonymous SNV	ZACN:NM_180990:exon4:c.G319A:p.A107T	.	404	1106	12	0	0	12	0.00539568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0025	0.00259585	0.0072	0.0004	0.0041	0	0.0671	0.0077	0.0045	0.0022	0.0039844	616	154602	rs144683704	0.0039	0.0039	0.0038	0.0039	0.0079	0.0038	0.0037	0.0060	0.0054	0.0005	0.0018	0.0015	5.159e-05	0.0325	0.0079	0.0030	0.0030	0.0021	0.0055	0.0055	0.0038	0.0073	0.0047	0.0052	0.0051	0.0042	0.0041	0.0003	0.0011	0.0045	0.0006	0	0.0399	0	0.0047	0.0028	0.0021	0.355	0.12109	T	0.17	0.30436	T	0.256	0.31372	B	0.044	0.24394	B	0.853333	0.07071	N	1.084160	1	0.08975	N	1.6	0.40776	L	-1.23	0.78860	T	-0.13	0.08971	N	0.103	0.08646	-0.9585	0.39461	T	0.181	0.52767	T	10	0.003950417	0.00076	T	.	.	.	0.085	0.24743	.	.	0.104622674875	0.10061	0.09183660513373698	0.09116	0.0748045010102	0.08394	0.249536663294	0.03719	T	0.01882	0.15105	T	-0.511729	0.00491	T	-0.503695	0.21964	T	0.00601794847300107	0.00066	T	0.419058	0.11093	T	0.12057512	0.28370	0.081916794	0.18655	0.12057512	0.28370	0.081916794	0.18655	-3.221	0.12739	T	.	.	0.073	0.04477	B	.	.	0.082091	0.04879	1.466	0.67348265895289328	0.08328	0.03533	0.08724	N	AEFDBHCI	0.073499	0.14702	N	-0.992117351117047	0.08771	0.4125465	-1.1286710932932	0.07156	0.3470633	0.99999995839411	0.74766	0.676195	0.55175	0	0.759151	0.99529	0	0.606814	0.37721	0	0.526665	0.08891	0	.	.	3.86	-2.88	0.05342	-0.206000	0.09400	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4158:0.1458:0.2713:0.1671	1.005	0.01392	676	0.60355	Neurotransmitter-gated ion-channel ligand-binding 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	0.012614	0.000000	0.014986	0.017544	0.000000	0.034483	0.009202	0.011364	0.02632	802.33	33	chr17	76079939	.	G	A	802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.061;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=-0.261;SOR=0.793	GT:AD:DP:GQ:PL	0/1:21,31:52:99:816,0,568	18	0	1	0
chr17	76281902	76281902	C	T	exonic	QRICH2	.	nonsynonymous SNV	QRICH2:NM_032134:exon8:c.G3727A:p.V1243I	.	395	1125	2	0	0	2	0.000888099	.	.	.	2808415	not_provided|QRICH2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	.	0.0046	0.00179712	0.0040	0.0011	0.0055	0	0.0011	0.0058	0.0068	0.0004	0.0040491	626	154602	rs147155048	0.0052	0.0052	0.0055	0.0050	0.0064	0.0051	0.0051	0.0063	0.0062	0.0010	0.0031	0.0014	5.038e-05	0.0009	0.0003	0.0064	0.0044	0.0003	0.0036	0.0036	0.0041	0.0031	0.0060	0.0034	0.0033	0.0055	0.0053	0.0013	0	0.0044	0.0020	0	0.0007	0	0.0060	0.0047	0.0004	0.319	0.23450	T	0.36	0.16964	T	0.025	0.19245	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.69	0.01958	N	0.89	0.45636	T	-0.42	0.14193	N	0.069	0.04188	-1.0168	0.24755	T	0.031	0.13461	T	9	0.0045847595	0.00095	T	.	.	.	0.009	0.00846	.	.	0.0297737177859	0.01360	0.08159134108200064	0.08094	0.131183739364	0.14795	0.307181119919	0.11480	T	0.012401	0.10910	T	-0.712362	0.00031	T	-0.78664	0.02258	T	0.00141203152457436	0.00014	T	0.19558	0.02146	T	0.02626547	0.01662	0.029670127	0.01330	0.024179325	0.01224	0.03205322	0.01884	-5.611	0.42892	T	.	.	0.068	0.05668	B	.;.;.	.;.;.	-0.194324	0.03119	0.498	0.78868403037661328	0.12488	0.05602	0.11507	N	AEFGBI	0.049498	0.08558	N	-1.33039123249462	0.03332	0.1486868	-1.27978958173148	0.04704	0.2225152	0.530648177521331	0.21172	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	5.55	1.21	0.20240	-0.347000	0.07799	.	.	-3.025000	0.00137	0.004000	0.16614	0.204000	0.23592	0.002000	0.04165	0.1288:0.6286:0.0:0.2426	6.105	0.19289	964	0.07719	.;.;.	.	.	.	.	.	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	1	0	1	0	0.001514	0.000000	0.000000	0.000000	0.000000	0.008621	0.003086	0.003788	0.02632	1123.33	39	chr17	76281902	.	C	T	1123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.329;DP=725;ExcessHet=0;FS=2.708;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.153;SOR=0.456	GT:AD:DP:GQ:PL	0/1:52,46:98:99:1137,0,1430	18	0	1	0
chr17	78171999	78171999	G	C	exonic	SYNGR2	.	stoploss	SYNGR2:NM_001363778:exon3:c.G827C:p.X276S	.	425	1036	59	2	0	63	0.0295082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00559105	0.0079	0.0018	0.0076	0	0.0048	0.0099	0.0165	0.0083	0.0067334	1041	154602	rs143144653	0.0067	0.0067	0.0064	0.0071	0.0240	0.0066	0.0066	0.0208	0.0195	0.0017	0.0083	0.0146	0	0.0058	0.0240	0.0066	0.0080	0.0085	0.0063	0.0063	0.0066	0.0060	0.0135	0.0060	0.0058	0.0120	0.0115	0.0013	0	0.0135	0.0109	0	0.0051	0.0204	0.0079	0.0104	0.0085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.001	0.00004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.75592	0.00016	T	-0.847572	0.00991	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.232574	0.02928	0.427	0.50376417526431616	0.04373	0.07884	0.13873	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999987626685079	0.51787	0.256867	0.04430	0	0.261133	0.04861	0	0.203592	0.04532	1	0.375513	0.06772	0	0.0496666	0.09133	2.0	-0.67	0.10812	-0.824000	0.04545	-0.255000	0.10474	-1.506000	0.01022	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2093:0.0:0.4797:0.311	2.049	0.03351	923	0.18507	.	TK1|AFMID|LGALS3BP|TMC8|SYNGR2	Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Testis|Whole_Blood	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4268.83	38	chr17	78171999	.	G	C	4268.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.83;DP=881;ExcessHet=0.119;FS=7.291;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.99;MQRankSum=0;QD=14.77;ReadPosRankSum=0.636;SOR=1.136	GT:AD:DP:GQ:PL	0/1:59,74:133:99:2190,0,1804	17	0	2	0
chr17	79737219	79737219	A	G	exonic	ENPP7	.	nonsynonymous SNV	ENPP7:NM_178543:exon4:c.A1205G:p.N402S	.	423	1050	46	3	0	52	0.0241636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363	.	0.0021	0.00439297	0.0049	0.0004	0.0068	0.0001	0.0011	0.0037	0.0088	0.0140	0.003978	615	154602	rs148504454	0.0030	0.0030	0.0025	0.0035	0.0345	0.0029	0.0029	0.0306	0.0291	0.0013	0.0033	0.0008	5.038e-05	0.0016	0.0345	0.0022	0.0049	0.0133	0.0024	0.0024	0.0023	0.0025	0.0139	0.0022	0.0021	0.0112	0.0102	0.0006	0.0011	0.0036	0.0017	0	0.0009	0.0204	0.0027	0.0047	0.0139	0.042	0.41637	D	0.06	0.55759	T	.	.	.	.	.	.	0.000013	0.62929	D	0.107917	0.97117	0.38851	D	.	.	.	-1.27	0.81640	T	-3.78	0.71519	D	0.311	0.35088	-0.4144	0.71570	T	0.316	0.68566	T	10	0.0114685595	0.00250	T	.	.	.	0.363	0.68319	.	.	0.678820268726	0.67608	0.8019497746686944	0.80148	0.271583772953	0.29678	0.260539412498	0.04955	T	0.485718	0.81251	T	-0.45022	0.01126	T	-0.408455	0.32402	T	0.0712710769880274	0.08828	T	0.830517	0.49623	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.39425	B	.;.	.;.	2.445970	0.31491	18.76	0.99673268891014699	0.78717	0.90093	0.51004	D	AEFBCI	0.886620	0.81816	D	0.0800277301162812	0.45531	2.808124	-0.0453504094764763	0.37692	2.210384	0.767705452842803	0.23617	0.516011	0.20929	0	0.610034	0.51514	0	0.586423	0.30347	0	0.542086	0.14980	0	.	.	3.07	1.97	0.25278	5.895000	0.69554	6.686000	0.56326	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.170000	0.20979	0.8997:0.0:0.1003:0.0	8.173	0.30425	.	.	.;.	.	.	.	.	.	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	0.023690	0.005051	0.029891	0.044118	0.000000	0.034483	0.009146	0.018939	0.02632	1257.33	33	chr17	79737219	.	A	G	1257.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.92;DP=762;ExcessHet=0;FS=0.937;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-0.402;SOR=0.856	GT:AD:DP:GQ:PL	0/1:49,42:91:99:1271,0,1411	18	0	1	0
chr17	81219927	81219927	G	A	exonic	CEP131	.	nonsynonymous SNV	CEP131:NM_001009811:exon2:c.C130T:p.R44C,CEP131:NM_001319228:exon2:c.C130T:p.R44C,CEP131:NM_001319229:exon2:c.C130T:p.R44C,CEP131:NM_014984:exon2:c.C130T:p.R44C	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	0.110970886914	0.0037	0.00139776	0.0027	0.0012	0.0009	0	0	0.0040	0.0022	0.0022	0.002943	455	154602	rs145522664	0.0044	0.0044	0.0046	0.0042	0.0053	0.0043	0.0043	0.0052	0.0051	0.0010	0.0016	0.0006	2.535e-05	0.0003	0.0019	0.0053	0.0042	0.0018	0.0032	0.0032	0.0033	0.0030	0.0051	0.0029	0.0028	0.0047	0.0045	0.0009	0	0.0043	0.0012	0	0.0003	0	0.0051	0.0052	0.0019	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.000000	0.999724	0.48557	D	2.7	0.79018	M	1.79	0.25509	T	-3.98	0.74742	D	0.809	0.84609	-0.8670	0.50754	T	0.145	0.46786	T	10	0.0599505	0.07287	T	0.110971	0.78856	D	0.365	0.68495	.	.	0.579924211245	0.57663	0.4568264573961513	0.45600	0.567003115594	0.52971	0.485972076654	0.36880	T	0.249206	0.61912	T	-0.204921	0.20099	T	-0.0634058	0.66094	T	0.0580932877236283	0.06865	T	0.919108	0.70849	D	0.5120942	0.67801	0.25919396	0.51664	0.5120942	0.67802	0.25919396	0.51663	-9.309	0.69877	D	.	.	0.235	0.46802	B	.;.;.;.	.;.;.;.	4.671520	0.74661	26.2	0.99913180966288684	0.98167	0.93200	0.57586	D	AEFBI	0.482226	0.52319	N	0.494767796363827	0.66783	4.995038	0.385076868220597	0.60644	4.254305	0.679152059616627	0.22458	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.72	3.72	0.41857	6.103000	0.71146	7.238000	0.57892	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.157000	0.20547	0.0:0.0:1.0:0.0	12.780	0.56850	.	.	.;.;.;.	.	.	.	.	.	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	0.002520	0.000000	0.002717	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	1130.33	113	chr17	81219927	.	G	A	1130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.74;DP=931;ExcessHet=0;FS=2.274;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=-0.811;SOR=0.518	GT:AD:DP:GQ:PL	0/1:91,46:137:99:1144,0,2292	18	0	1	0
chr17	82253179	82253179	G	C	exonic	CSNK1D	.	nonsynonymous SNV	CSNK1D:NM_001363749:exon4:c.C402G:p.F134L,CSNK1D:NM_001893:exon4:c.C402G:p.F134L,CSNK1D:NM_139062:exon4:c.C402G:p.F134L	Advanced sleep-phase syndrome, familial, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2188	1224.92	33	chr17	82253179	.	G	C	1224.92	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-4.011;DP=3300;ExcessHet=2.9153;FS=178.806;InbreedingCoeff=-0.3232;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.84;ReadPosRankSum=0.682;SOR=12.631	GT:AD:DP:GQ:PL	0/1:115,54:169:99:381,0,2225	9	0	7	3
chr18	8784191	8784191	A	G	exonic	MTCL1	.	nonsynonymous SNV	MTCL1:NM_001378205:exon5:c.A2159G:p.H720R,MTCL1:NM_001378206:exon5:c.A2159G:p.H720R,MTCL1:NM_001378207:exon5:c.A2159G:p.H720R,MTCL1:NM_015210:exon6:c.A1079G:p.H360R	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.01143213123	.	0.000199681	0.0002	0	0	0	0	1.543e-05	0	0.0016	0.0001811	28	154602	rs568446394	7.732e-05	7.73e-05	4.493e-05	0.0001	0.0012	6.534e-05	6.137e-05	0.0010	0.0009	0	0	0	0	0	0.0002	3.597e-06	9.937e-05	0.0012	3.284e-05	3.281e-05	1.285e-05	5.374e-05	0.0006	1.26e-05	7.98e-06	0.0002	9e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0006	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.016013	0.28092	N	0.177298	1	0.81001	D	-3.045	0.00012	N	3.42	0.06368	T	3.59	0.00080	N	0.22	0.24634	-0.9277	0.44473	T	0.004	0.01159	T	10	0.009334922	0.00211	T	0.011432	0.29047	T	0.100	0.28662	0.428	0.47515	0.0482279557977	0.04254	0.3406265099078599	0.33975	0.117119508686	0.13201	0.258581846952	0.04723	T	0.070047	0.33862	T	-0.571553	0.00217	T	-0.639325	0.09718	T	0.015206512687137	0.00333	T	0.747625	0.36808	T	0.0625126	0.13064	0.116006725	0.28004	0.0625126	0.13064	0.116006725	0.28003	4.527	0.00008	T	.	.	0.062	0.02228	B	.;.;.;.	.;.;.;.	0.742435	0.11117	7.764	0.85822937152644319	0.16134	0.24810	0.22508	N	AEFDBCI	0.069183	0.13683	N	-0.945508976244728	0.09794	0.4651016	-0.606525355728503	0.19325	1.036318	0.999999979041528	0.74766	0.631981	0.41245	0	0.59043	0.45803	0	0.779548	0.98927	0	0.635551	0.53088	0	.	.	5.37	4.49	0.54177	4.144000	0.57825	4.431000	0.43351	-0.137000	0.12594	1.000000	0.71638	1.000000	0.68203	0.870000	0.41412	0.0781:0.0:0.9219:0.0	13.314	0.59832	867	0.32089	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1182.33	93	chr18	8784191	.	A	G	1182.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.311;DP=1465;ExcessHet=0;FS=0.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.734;SOR=0.598	GT:AD:DP:GQ:PL	0/1:45,47:92:99:1196,0,1346	18	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	121308.0	599	chr18	9887397	.	C	*	121308.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.27;DP=10943;ExcessHet=0.0506;FS=0;InbreedingCoeff=0.3091;MLEAC=16;MLEAF=0.421;MQ=59.34;MQRankSum=1.04;QD=14.78;ReadPosRankSum=0.235;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,172:452:99:.:.:14069,7841,10139:.	6	3	10	0
chr18	13015390	13015390	C	G	exonic	CEP192	.	nonsynonymous SNV	CEP192:NM_032142:exon6:c.C582G:p.H194Q	.	427	1088	7	0	0	7	0.0032066	.	.	.	2818239	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.036	0.00753453920621	0.0064	0.00239617	0.0042	0.0023	0	0	0	0.0064	0.0053	0.0030	0.001533	237	154602	rs117292623	0.0071	0.0068	0.0072	0.0070	0.0082	0.0070	0.0069	0.0081	0.0080	0.0010	0.0009	7.95e-05	2.799e-05	0.0098	0.0016	0.0082	0.0047	0.0031	0.0049	0.0049	0.0053	0.0044	0.0081	0.0046	0.0045	0.0076	0.0073	0.0013	0	0.0012	0.0006	0	0.0090	0	0.0081	0.0038	0.0031	0.395	0.10659	T	0.371	0.16425	T	.	.	.	.	.	.	.	.	.	.	1	0.21100	N	.	.	.	1.86	0.24285	T	-0.71	0.20145	N	0.229	0.25745	-0.9414	0.42394	T	0.008	0.02801	T	9	0.0029313564	0.00047	T	0.007535	0.19979	T	0.036	0.09122	0.085	0.00830	0.141422826196	0.13715	0.0633376834195065	0.06272	0.125623545426	0.14159	0.368269324303	0.20583	T	0.026967	0.19847	T	-0.636149	0.00088	T	-0.67553	0.07259	T	0.00766921767361017	0.00089	T	0.642936	0.25461	T	0.029522995	0.02461	0.041860145	0.04853	0.029522995	0.02460	0.041860145	0.04853	-2.634	0.06766	T	.	.	0.186	0.40279	B	.;.	.;.	-0.003532	0.04258	1.057	0.93556326407848445	0.23390	0.07622	0.13631	N	AEFBI	0.051593	0.09130	N	-0.835352339183272	0.12413	0.6049267	-0.829719581857647	0.13777	0.7164835	0.519799208432604	0.21087	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.04	0.238	0.14741	0.049000	0.13983	-0.242000	0.10582	-0.200000	0.08971	0.002000	0.15269	0.940000	0.28757	0.760000	0.36145	0.0:0.313:0.2373:0.4497	3.022	0.05711	522	0.74218	.;.	.	.	.	.	.	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	1	0	.	.	.	.	.	.	.	.	0.02632	1435.33	33	chr18	13015390	.	C	G	1435.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.611;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=1.57;SOR=0.744	GT:AD:DP:GQ:PL	0/1:68,59:127:99:1449,0,1801	18	0	1	0
chr18	14513787	14513787	T	C	splicing	POTEC	NM_001137671:exon10:c.1410-2A>G	.	.	.	994	521	7	0	0	7	0.00667302	0.9996	0.558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0197684	0.0144	0.0072	0.0022	0.0229	0.0074	0.0104	0.0057	0.0474	0.0085704	1325	154602	rs8095431	0.0090	0.0090	0.0082	0.0098	0.0429	0.0089	0.0088	0.0412	0.0405	0.0060	0.0029	0.0013	0.0429	0.0052	0.0154	0.0066	0.0086	0.0334	0.0083	0.0083	0.0080	0.0086	0.0405	0.0079	0.0078	0.0358	0.0341	0.0064	0	0.0039	0.0009	0.0284	0.0044	0.0306	0.0077	0.0066	0.0405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999935	0.19363	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.798505	0.00008	T	-0.894011	0.00546	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.342760	0.46072	22.2	0.78168870682474034	0.12185	0.01012	0.03817	N	AEFI	.	.	.	-0.00385594114453219	0.41679	2.497468	-0.459820587356929	0.23271	1.268173	1.40848488218025E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0884565	0.20023	0.702	0.702	0.17269	-0.679000	0.05304	.	.	0.332000	0.19570	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	.	.	.	940	0.13648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	3580.83	39	chr18	14513787	.	T	C	3580.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.99;DP=1467;ExcessHet=0.119;FS=3.543;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=52.02;MQRankSum=3.76;QD=8.16;ReadPosRankSum=1.49;SOR=0.97	GT:AD:DP:GQ:PL	0/1:130,80:210:99:2000,0,3327	17	0	2	0
chr18	23751087	23751087	G	A	exonic	LAMA3	.	nonsynonymous SNV	LAMA3:NM_001127717:exon5:c.G854A:p.R285Q,LAMA3:NM_001302996:exon5:c.G854A:p.R285Q,LAMA3:NM_198129:exon5:c.G854A:p.R285Q	Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive	.	.	.	.	.	.	.	0.9495	0.662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.741	0.103395874027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	1.159e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999995	0.58761	D	.	.	.	-1.02	0.76300	T	-3.15	0.64132	D	0.766	0.76388	0.528	0.90943	D	0.703	0.89761	D	9	0.78978586	0.78559	D	0.103396	0.77741	D	0.741	0.91026	.	.	0.765929506732	0.76379	0.7240235393249653	0.72346	0.369277446004	0.38454	0.745229125023	0.73742	T	0.06789	0.33318	T	0.334083	0.85440	D	0.242111	0.85250	D	0.982583022465814	0.74580	D	0.978852	0.92629	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	0.69440	P	.;.	.;.	5.207289	0.87374	29.2	0.9992581558295186	0.99042	0.99020	0.90058	D	AEFBI	0.944009	0.95057	D	0.700005622737059	0.79631	7.118904	0.744423079678159	0.85740	8.671632	0.999999999016636	0.74766	0.638212	0.43195	0	0.547309	0.14657	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.64	5.64	0.86480	9.543000	0.97188	7.584000	0.61047	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	19.707	0.96075	652	0.62785	.;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	170.33	33	chr18	23751087	.	G	A	170.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.502;DP=687;ExcessHet=0;FS=27.867;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.37;ReadPosRankSum=-0.319;SOR=4.799	GT:AD:DP:GQ:PL	0/1:57,15:72:99:184,0,1510	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	3348.45	99	chr18	31541297	.	G	A	3348.45	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.192;DP=1152;ExcessHet=25.4433;FS=375.107;InbreedingCoeff=-0.7874;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=3.6;ReadPosRankSum=1.09;SOR=12.356	GT:AD:DP:GQ:PL	0/1:40,34:86:99:268,0,671	2	0	16	1
chr18	33346276	33346276	A	G	exonic	CCDC178	.	nonsynonymous SNV	CCDC178:NM_001105528:exon9:c.T593C:p.I198T,CCDC178:NM_001308126:exon9:c.T593C:p.I198T,CCDC178:NM_001371120:exon9:c.T593C:p.I198T,CCDC178:NM_001371121:exon9:c.T593C:p.I198T,CCDC178:NM_198995:exon9:c.T593C:p.I198T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0261056520105	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.713e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.311	0.19660	T	0.902	0.59353	P	0.602	0.58796	P	.	.	.	.	0.999998	0.58761	D	2.295	0.65404	M	1.97	0.22881	T	-2.42	0.57275	N	0.698	0.70878	-0.7764	0.56504	T	0.248	0.61739	T	9	0.48777482	0.60810	T	0.026106	0.49041	D	0.205	0.49236	0.341	0.33302	0.298403945805	0.29456	0.05798785686706267	0.05739	0.140614320253	0.15858	0.639569044113	0.58502	T	0.054511	0.29746	T	-0.0764447	0.40293	T	-0.347584	0.39483	T	0.661568875744033	0.38965	D	0.761624	0.40735	T	0.15347572	0.34787	0.33184472	0.59039	0.15347572	0.34786	0.33184472	0.59039	-5.092	0.38646	T	.	.	0.518	0.70398	A	.;.;.;.;.;.	.;.;.;.;.;.	3.290769	0.45128	22.1	0.56288752279565435	0.05520	0.67819	0.33572	D	AEFI	0.590453	0.58694	D	0.165334724824278	0.49541	3.153272	0.0797987663951845	0.43535	2.653175	0.0172036423084352	0.12924	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	5.915000	0.69704	11.043000	0.85201	0.756000	0.94297	0.890000	0.31197	1.000000	0.68203	0.007000	0.07825	1.0:0.0:0.0:0.0	13.292	0.59709	780	0.47616	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	74.33	33	chr18	33346276	.	A	G	74.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.286;DP=1065;ExcessHet=0;FS=130.34;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=1.94;SOR=9.149	GT:AD:DP:GQ:PL	0/1:61,20:81:88:88,0,1160	18	0	1	0
chr18	36717857	36717862	TGCAGG	-	exonic	FHOD3	.	nonframeshift deletion	FHOD3:NM_001281739:exon15:c.1983_1988del:p.A662_G663del,FHOD3:NM_025135:exon16:c.2034_2039del:p.A679_G680del,FHOD3:NM_001281740:exon19:c.2559_2564del:p.A854_G855del	.	420	1099	2	1	0	4	0.00181653	.	.	.	3227906	not_provided|Cardiomyopathy,_familial_hypertrophic,_28|not_specified	MedGen:C3661900|MONDO:MONDO:0030317,MedGen:C5543616,OMIM:619402|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00539137	0.0020	9.741e-05	0.0002	0	0	9.267e-05	0.0012	0.0204	0.0001921	5	26028	rs573447742	0.0009	0.0009	0.0006	0.0013	0.0132	0.0009	0.0009	0.0126	0.0123	3.039e-05	9.473e-05	0	0	0	0.0027	0.0001	0.0010	0.0132	0.0006	0.0006	0.0004	0.0007	0.0145	0.0005	0.0004	0.0118	0.0108	4.819e-05	0	6.539e-05	0	0.0002	0	0	0.0001	0.0005	0.0145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	973.29	66	chr18	36717856	.	ATGCAGG	A	973.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.186;DP=823;ExcessHet=0;FS=0.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=1.33;SOR=0.861	GT:AD:DP:GQ:PL	0/1:46,27:73:99:987,0,1804	18	0	1	0
chr18	37067196	37067196	T	C	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.T559C:p.C187R,KIAA1328:NM_001353919:exon6:c.T559C:p.C187R,KIAA1328:NM_001353918:exon7:c.T871C:p.C291R,KIAA1328:NM_020776:exon7:c.T883C:p.C295R,KIAA1328:NM_001353920:exon8:c.T31C:p.C11R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1579	827.4	33	chr18	37067196	.	T	C	827.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-6.782;DP=2841;ExcessHet=2.0135;FS=140.873;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.07;SOR=12.018	GT:AD:DP:GQ:PL	0/1:189,37:226:99:104,0,6577	13	0	6	0
chr18	47246849	47246849	C	T	exonic	SKOR2	.	nonsynonymous SNV	SKOR2:NM_001278063:exon2:c.G2335A:p.D779N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.424732564814	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1414504174	7.519e-07	6.156e-06	1.479e-06	0	3.328e-05	0	0	.	.	0	3.328e-05	0	0	0	0	0	0	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	0.005	0.63226	D	0.319	0.19188	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.95	0.75438	T	-2.15	0.48687	N	0.089	0.11769	-0.4903	0.68998	T	0.277	0.64896	T	7	0.28365412	0.45946	T	0.424733	0.93864	D	0.188	0.46444	0.223	0.14665	0.543647122172	0.54018	0.09013615779820769	0.08946	0.932039959237	0.71862	0.797746658325	0.81620	T	.	.	.	-0.0568796	0.43393	T	-0.31948	0.42632	T	0.932304263114929	0.59826	D	0.638236	0.25169	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.38372	B	.;.	.;.	4.544181	0.71454	25.7	0.99759074434499218	0.84931	0.84959	0.44056	D	AEFDBCI	0.276990	0.39160	N	0.0492379649045868	0.44107	2.690867	0.115684593390769	0.45350	2.799763	0.999632702006786	0.41205	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	4.35	4.35	0.51454	2.049000	0.40912	7.485000	0.59302	0.524000	0.24156	0.974000	0.34632	1.000000	0.68203	0.713000	0.34548	0.0:1.0:0.0:0.0	12.255	0.53937	872	0.31118	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	145.33	35	chr18	47246849	.	C	T	145.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.225;DP=754;ExcessHet=0;FS=90.329;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.63;ReadPosRankSum=1.87;SOR=6.735	GT:AD:DP:GQ:PL	0/1:61,28:89:99:159,0,1270	18	0	1	0
chr18	54273997	54273997	A	C	exonic	POLI	.	nonsynonymous SNV	POLI:NM_001351610:exon2:c.A187C:p.N63H,POLI:NM_001351614:exon2:c.A4C:p.N2H,POLI:NM_001351615:exon2:c.A4C:p.N2H,POLI:NM_001351616:exon2:c.A187C:p.N63H,POLI:NM_001351611:exon3:c.A109C:p.N37H,POLI:NM_001351612:exon3:c.A109C:p.N37H,POLI:NM_001351613:exon3:c.A313C:p.N105H,POLI:NM_001351621:exon3:c.A313C:p.N105H,POLI:NM_001351632:exon3:c.A238C:p.N80H,POLI:NM_007195:exon3:c.A313C:p.N105H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.0387748364039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.396e-06	1.368e-06	1.389e-06	1.403e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.39e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.32929	T	0.326	0.38450	T	0.847	0.46818	P	0.442	0.45773	B	0.147105	0.18091	N	0.629156	0.946391	0.37526	D	1.365	0.34158	L	-1.04	0.76561	T	-1.05	0.27463	N	0.286	0.34336	-0.5467	0.66911	T	0.299	0.66998	T	10	0.31458637	0.48898	T	0.038775	0.58424	D	0.317	0.63904	0.604	0.73586	0.660281309838	0.65743	0.27484150709870664	0.27397	0.034328980918	0.03608	0.303002685308	0.10850	T	0.186732	0.59760	T	-0.0808424	0.39578	T	-0.353901	0.38757	T	0.329428855170742	0.26202	T	0.921408	0.76258	D	0.19038986	0.40622	0.05404675	0.09222	0.19038986	0.40621	0.05404675	0.09222	-2.789	0.08082	T	.	.	0.097	0.31048	B	.;.;.;.;.;.	.;.;.;.;.;.	2.831385	0.37330	20.5	0.36632017621322599	0.02367	0.80365	0.40022	D	AEFGBI	0.153412	0.27826	N	-0.194595653543112	0.33359	1.891668	-0.180037237142801	0.32270	1.834354	0.999456535861575	0.39788	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.9	3.38	0.37806	3.890000	0.55932	5.725000	0.49491	-0.092000	0.16129	1.000000	0.71638	1.000000	0.68203	0.266000	0.23669	0.5023:0.2561:0.0:0.2416	5.109	0.14130	599	0.68140	UmuC domain|UmuC domain;UmuC domain|UmuC domain;UmuC domain|UmuC domain;UmuC domain|UmuC domain;UmuC domain|UmuC domain;UmuC domain|UmuC 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	.	.	.	.	.	.	.	.	0.02632	782.33	35	chr18	54273997	.	A	C	782.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=679;ExcessHet=0;FS=0.979;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=0.521;SOR=0.951	GT:AD:DP:GQ:PL	0/1:30,32:62:99:796,0,651	18	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G,CDH7:NM_001362438:exon6:c.C833G:p.A278G,CDH7:NM_004361:exon6:c.C833G:p.A278G,CDH7:NM_033646:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	3265.29	67	chr18	65824683	.	C	G	3265.29	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.376;DP=1741;ExcessHet=38.2876;FS=194.625;InbreedingCoeff=-0.8995;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=1.26;SOR=12.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,20:84:81:0|1:65824683_C_G:81,0,1496:65824683	1	0	18	0
chr18	67511200	67511200	T	C	exonic	DSEL	.	nonsynonymous SNV	DSEL:NM_032160:exon2:c.A3409G:p.T1137A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.0470617197664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.029	0.54541	D	.	.	.	.	.	.	0.000001	0.84330	U	0.000000	0.98638	0.40424	D	.	.	.	-1.56	0.81815	D	-1.56	0.37759	N	0.298	0.33687	-0.1672	0.78495	T	0.466	0.79378	T	10	0.2045309	0.36648	T	0.047062	0.62750	D	0.402	0.71558	.	.	0.554077600107	0.55066	0.8034578131107023	0.80299	0.137146261983	0.15466	0.546188056469	0.45319	T	.	.	.	0.0865537	0.62798	D	-0.113448	0.62336	T	0.859143972396851	0.50974	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12181	B	.	.	3.645419	0.51706	23.1	0.99205081884887758	0.55412	0.88367	0.48262	D	AEFGBCI	0.438541	0.49789	N	0.089916046913896	0.45994	2.846734	0.210104677521401	0.50408	3.23311	0.999999848598727	0.74766	0.660377	0.49826	0	0.573888	0.26702	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	4.79	4.79	0.60909	4.991000	0.63616	7.923000	0.74625	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0803:0.0:0.9197	9.968	0.40909	927	0.17636	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1595.33	33	chr18	67511200	.	T	C	1595.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.083;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=1.12;SOR=0.7	GT:AD:DP:GQ:PL	0/1:71,57:128:99:1609,0,2229	18	0	1	0
chr18	74518536	74518536	G	A	exonic	CNDP2	.	nonsynonymous SNV	CNDP2:NM_001168499:exon7:c.G854A:p.R285H,CNDP2:NM_001370248:exon10:c.G1106A:p.R369H,CNDP2:NM_001370250:exon10:c.G1106A:p.R369H,CNDP2:NM_001370254:exon10:c.G389A:p.R130H,CNDP2:NM_018235:exon10:c.G1106A:p.R369H,CNDP2:NM_001370249:exon12:c.G1106A:p.R369H	.	427	1093	2	0	0	2	0.000914077	.	.	.	2194887	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.055	0.00310340467104	0.0002	.	8.237e-05	9.61e-05	8.637e-05	0.0001	0	7.492e-05	0	0.0001	7.12e-05	11	154602	rs147081657	5.609e-05	5.609e-05	5.036e-05	6.188e-05	0.0001	4.61e-05	4.236e-05	5.395e-05	4.042e-05	0	0.0001	0	7.557e-05	0	0	5.216e-05	0.0001	0.0001	5.257e-05	5.253e-05	3.855e-05	6.726e-05	0.0002	2.557e-05	1.83e-05	2.846e-05	1.858e-05	4.827e-05	0	0	0	0	0	0	7.349e-05	0	0.0002	0.096	0.31088	T	0.073	0.47581	T	0.0	0.07471	B	0.002	0.06944	B	0.950626	0.07653	N	1.017760	1	0.08975	N	-0.345	0.03330	N	2.24	0.17923	T	-0.52	0.16187	N	0.208	0.23253	-0.9963	0.30946	T	0.038	0.16548	T	10	0.10220486	0.18719	T	0.003103	0.06726	T	0.055	0.15663	.	.	0.176091768786	0.17195	0.3478386898480182	0.34697	0.206106104933	0.23033	0.203981980681	0.00582	T	0.098235	0.40185	T	-0.530994	0.00379	T	-0.726213	0.04501	T	0.0305490357831972	0.02075	T	0.752425	0.37456	T	0.09912247	0.23390	0.10862943	0.26170	0.09912247	0.23390	0.10862943	0.26170	-2.393	0.05090	T	.	.	0.066	0.02200	B	.;.;.	.;.;.	1.262589	0.16608	12.65	0.9822246138287839	0.39316	0.07264	0.13287	N	AEFGBCI	0.221754	0.34634	N	-0.752556689982958	0.14563	0.7265383	-0.687717855342022	0.17268	0.9173884	0.969184778479122	0.29109	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.52	3.12	0.34986	1.427000	0.34489	1.845000	0.29216	-0.063000	0.16611	0.556000	0.27393	0.000000	0.08366	0.602000	0.31438	0.8601:0.0:0.1399:0.0	9.827	0.40085	819	0.41190	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	3562.83	34	chr18	74518536	.	G	A	3562.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.51;DP=905;ExcessHet=0.119;FS=2.53;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.382;SOR=0.859	GT:AD:DP:GQ:PL	0/1:66,80:146:99:1988,0,1595	17	0	2	0
chr18	79373903	79373903	A	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.A3076G:p.I1026V,ATP9B:NM_198531:exon28:c.A3076G:p.I1026V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1259.6	82	chr18	79373903	.	A	G	1259.6	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-0.81;DP=861;ExcessHet=1.3;FS=155.795;InbreedingCoeff=-0.2258;MLEAC=6;MLEAF=0.2;MQ=60;MQRankSum=0;QD=5.43;ReadPosRankSum=1.49;SOR=8.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,5:33:93:0|1:79373902_C_G:93,0,1075:79373902	10	0	5	4
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M,ATP9B:NM_198531:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.375	2268.28	81	chr18	79373905	.	C	G	2268.28	.	AC=9;AF=0.375;AN=24;BaseQRankSum=1.62;DP=784;ExcessHet=7.4688;FS=157.665;InbreedingCoeff=-0.3998;MLEAC=12;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=1.57;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,5:34:90:0|1:79373902_C_G:90,0,1098:79373902	3	0	9	7
chr18	79373906	79373906	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079G:p.L1027V,ATP9B:NM_198531:exon28:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	2143.27	69	chr18	79373906	.	C	G	2143.27	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-0.593;DP=800;ExcessHet=7.4688;FS=314.938;InbreedingCoeff=-0.3139;MLEAC=7;MLEAF=0.25;MQ=60;MQRankSum=0;QD=6.05;ReadPosRankSum=1.57;SOR=9.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,5:34:90:0|1:79373902_C_G:90,0,1098:79373902	8	0	6	5
chr19	643250	643250	G	A	exonic	FGF22	.	nonsynonymous SNV	FGF22:NM_001300812:exon2:c.G230A:p.R77H,FGF22:NM_020637:exon2:c.G230A:p.R77H	.	407	1097	18	0	0	18	0.00813743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.708	0.228047730898	0.0019	0.00119808	0.0023	0.0003	0.0006	0	0.0005	0.0021	0.0045	0.0071	0.001727	267	154602	rs138373700	0.0020	0.0021	0.0019	0.0022	0.0061	0.0020	0.0020	0.0052	0.0050	0.0004	0.0006	0.0003	7.569e-05	0.0002	0.0061	0.0021	0.0017	0.0056	0.0015	0.0015	0.0015	0.0015	0.0056	0.0013	0.0013	0.0040	0.0034	0.0005	0	0.0008	0.0009	0	0.0003	0	0.0024	0.0005	0.0056	0.536	0.06891	T	0.031	0.53788	D	0.999	0.77913	D	0.971	0.72444	D	0.000001	0.84330	D	0.000000	0.997284	0.43767	D	2.325	0.66631	M	-1.49	0.87910	T	-2.19	0.49352	N	0.695	0.78167	0.547	0.91196	D	0.748	0.91412	D	10	0.024274528	0.00662	T	0.228048	0.88119	D	0.708	0.89559	.	.	0.845276638549	0.84379	0.5497558078855863	0.54901	0.0625190691864	0.06955	0.555647730827	0.46653	T	0.884889	0.97616	D	-0.118282	0.33405	T	0.0591009	0.74185	D	0.0566110056610057	0.06624	T	0.978136	0.92287	D	0.14080374	0.32471	0.07168853	0.15378	0.14080374	0.32471	0.07168853	0.15378	-6.996	0.54005	T	.	.	0.243	0.47708	B	.;.	.;.	4.249197	0.64489	24.7	0.99429568143629743	0.64179	0.68400	0.33788	D	AEFDBCI	0.497978	0.53227	N	0.466778797584997	0.65162	4.787847	0.345223436279736	0.58219	3.991328	0.999993548273079	0.74766	0.646311	0.45356	0	0.550933	0.16991	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.17	4.17	0.48303	3.662000	0.54249	5.069000	0.47160	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.107000	0.18608	0.1044:0.0:0.8956:0.0	9.016	0.35330	994	0.00715	.;.	.	.	.	.	.	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	0.004541	0.000000	0.002725	0.000000	0.000000	0.000000	0.009202	0.015152	0.02632	648.33	35	chr19	643250	.	G	A	648.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.728;DP=717;ExcessHet=0;FS=0.969;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.46;SOR=0.904	GT:AD:DP:GQ:PL	0/1:42,25:67:99:662,0,1110	18	0	1	0
chr19	1080897	1080897	C	A	exonic	ARHGAP45	.	nonsynonymous SNV	ARHGAP45:NM_001282334:exon7:c.C928A:p.L310I,ARHGAP45:NM_001282335:exon16:c.C1672A:p.L558I,ARHGAP45:NM_001258328:exon17:c.C2071A:p.L691I,ARHGAP45:NM_001321232:exon17:c.C2035A:p.L679I,ARHGAP45:NM_012292:exon17:c.C2023A:p.L675I	.	411	1101	9	1	0	11	0.00497063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0095584506045	0.0002	0.000399361	0.0006	0	0	0.0001	0	0.0003	0	0.0027	0.0004075	63	154602	rs377173699	0.0003	0.0003	0.0003	0.0004	0.0026	0.0003	0.0003	0.0023	0.0022	2.995e-05	6.747e-05	0.0002	7.581e-05	3.89e-05	0.0017	0.0002	0.0004	0.0026	0.0002	0.0002	0.0002	0.0001	0.0021	0.0001	9.234e-05	0.0011	0.0009	4.81e-05	0	6.536e-05	0	0	0	0	0.0002	0	0.0021	0.454	0.08891	T	0.854	0.04091	T	0.006	0.13644	B	0.01	0.14941	B	0.000136	0.49741	D	0.125367	0.998815	0.45492	D	0.01	0.07948	N	2.14	0.20255	T	-0.37	0.13226	N	0.209	0.23253	-1.0405	0.17162	T	0.025	0.10688	T	10	0.008266717	0.00187	T	0.009558	0.25016	T	0.045	0.12272	.	.	0.0920862733494	0.08535	0.2661182590889585	0.26524	0.78196987269	0.65341	0.688170790672	0.65442	T	0.006296	0.05736	T	-0.585436	0.00179	T	-0.619573	0.11219	T	0.0229070145047508	0.01012	T	0.80032	0.44603	T	0.12185906	0.28647	0.063722275	0.12664	0.12185906	0.28646	0.063722275	0.12664	-5.424	0.42692	T	.	.	0.083	0.12655	B	.;.;.;.;.;.	.;.;.;.;.;.	1.629214	0.20803	14.92	0.8757765611842091	0.17328	0.44702	0.27376	N	AEFDBHI	0.166492	0.29308	N	-0.462172509709896	0.23328	1.252014	-0.290870707125877	0.28398	1.583122	0.99941372988987	0.39577	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.19	4.19	0.48645	2.393000	0.44096	6.063000	0.53189	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.437000	0.27605	0.3368:0.6631:0.0:0.0	9.870	0.40339	982	0.03397	.;.;.;.;.;.	.	.	.	.	.	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	0.001009	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.003817	0.02632	1199.33	48	chr19	1080897	.	C	A	1199.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.009;DP=879;ExcessHet=0;FS=1.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-0.242;SOR=0.998	GT:AD:DP:GQ:PL	0/1:43,43:86:99:1213,0,1189	18	0	1	0
chr19	1923156	1923156	C	T	exonic	SCAMP4	.	nonsynonymous SNV	SCAMP4:NM_001329539:exon5:c.C350T:p.S117L,SCAMP4:NM_001329540:exon5:c.C380T:p.S127L,SCAMP4:NM_079834:exon6:c.C482T:p.S161L	.	415	1057	47	3	0	53	0.0244578	.	.	.	2815119	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.063	0.0181471237354	0.0012	0.000998403	0.0044	0	0	0	0	0.0032	0	0.0089	0.0011707	181	154602	rs201575102	0.0017	0.0017	0.0015	0.0019	0.0109	0.0016	0.0016	0.0087	0.0082	0.0004	0.0028	0.0098	2.795e-05	4.059e-05	0.0109	0.0010	0.0030	0.0090	0.0012	0.0012	0.0012	0.0013	0.0085	0.0011	0.0010	0.0064	0.0057	0.0003	0	0.0017	0.0072	0	9.427e-05	0	0.0012	0.0028	0.0085	0.666	0.04616	T	0.662	0.08961	T	0.178	0.28960	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.47	0.36993	L	2.26	0.17596	T	-0.72	0.28703	N	0.507	0.55280	-1.0258	0.21821	T	0.032	0.13548	T	9	0.010071874	0.00225	T	0.018147	0.40116	T	0.063	0.18251	.	.	0.168933306366	0.16529	0.8777534529285248	0.87742	0.185573042328	0.20862	0.556228518486	0.46735	T	0.008228	0.07566	T	-0.505838	0.00530	T	-0.491987	0.23182	T	0.0164431426993568	0.00410	T	0.80282	0.45805	T	0.14684372	0.33596	0.11954387	0.28853	0.14684372	0.33596	0.11954387	0.28852	-4.346	0.46877	T	.	.	0.261	0.52385	B	.;.;.;.	.;.;.;.	2.687015	0.35067	19.80	0.95875198977648801	0.28060	0.67837	0.33578	D	AEFGBI	0.284643	0.39746	N	-0.370526598003247	0.26525	1.448272	-0.282638707139203	0.28670	1.60032	0.997094890971606	0.35269	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	2.002000	0.40454	5.853000	0.50357	0.599000	0.40250	0.473000	0.26745	1.000000	0.68203	0.103000	0.18424	0.0:0.9128:0.0:0.0872	10.727	0.45273	988	0.01987	.;.;.;.	.	.	.	.	.	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	0.009937	0.005051	0.005682	0.018072	0.000000	0.027273	0.009677	0.000000	0.05263	1842.83	34	chr19	1923156	.	C	T	1842.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.1;DP=766;ExcessHet=0.119;FS=2.751;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.027;SOR=0.507	GT:AD:DP:GQ:PL	0/1:43,32:75:99:800,0,958	17	0	2	0
chr19	2278618	2278618	G	A	exonic	PEAK3	.	nonsynonymous SNV	PEAK3:NM_198532:exon3:c.C578T:p.A193V	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0137256025881	0.0003	0.000599042	0.0002	0.0021	8.892e-05	0	0.0002	1.685e-05	0	0	0.0001682	26	154602	rs149444944	4.094e-05	4.241e-05	5.091e-05	3.048e-05	0.0013	3.22e-05	2.889e-05	0.0010	0.0009	0.0013	7.205e-05	0	0	6.546e-05	0	5.69e-06	7.248e-05	1.468e-05	0.0004	0.0004	0.0004	0.0004	0.0015	0.0003	0.0003	0.0012	0.0011	0.0015	0	0	0	0	0	0	1.47e-05	0	0	0.713	0.04008	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	2.38	0.15843	T	-1.12	0.28906	N	0.104	0.08786	-0.9490	0.41143	T	0.014	0.05369	T	9	0.007333964	0.00167	T	0.013726	0.33353	T	0.010	0.01040	.	.	0.0297737177859	0.01360	0.13191725602333343	0.13116	0.133000903439	0.14980	.	.	.	0.003	0.01894	T	-0.729094	0.00024	T	-0.826236	0.01330	T	0.00271153006670367	0.00028	T	0.275372	0.04709	T	0.02382235	0.01156	0.03586438	0.02919	0.02382235	0.01155	0.03586438	0.02918	-5.049	0.37367	T	.	.	0.068	0.02829	B	.	.	-0.650829	0.01439	0.086	0.6171892576080259	0.06779	0.01511	0.04995	N	AEFDBHCI	0.022798	0.01186	N	-1.52506861662079	0.01686	0.07377852	-1.49489732373347	0.02386	0.1096356	0.795160476014593	0.24086	0.536635	0.22144	0	0.611049	0.52481	0	0.514364	0.09456	0	0.645665	0.59343	0	.	.	4.37	-0.209	0.12532	-0.153000	0.10130	0.082000	0.14403	-0.949000	0.02041	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4209:0.1883:0.3907:0.0	4.449	0.11031	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	.	.	.	.	.	.	.	.	0.02632	746.33	35	chr19	2278618	.	G	A	746.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.918;DP=696;ExcessHet=0;FS=0.97;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.04;SOR=0.883	GT:AD:DP:GQ:PL	0/1:34,30:64:99:760,0,803	18	0	1	0
chr19	2410309	2410309	C	T	exonic	TMPRSS9	.	nonsynonymous SNV	TMPRSS9:NM_001385642:exon9:c.C473T:p.A158V,TMPRSS9:NM_182973:exon9:c.C1067T:p.A356V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	0.109402358998	.	.	1.65e-05	0	8.643e-05	0	0	0	0.0011	0	1.29e-05	2	154602	rs780691347	7.525e-06	8.209e-06	1.361e-06	1.375e-05	0.0002	4.04e-06	2.95e-06	6.246e-05	4.757e-05	0	0	0	0	0	0.0002	0	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	0.106	0.29688	T	0.139	0.33666	T	0.65	0.40644	P	0.677	0.53365	P	0.666030	0.06008	N	1.217410	0.999961	0.18878	N	1.27	0.32069	L	-2.52	0.89363	D	-2.39	0.52612	N	0.171	0.24385	-0.2380	0.76678	T	0.635	0.87215	D	10	0.20238471	0.36356	T	0.109402	0.78636	D	0.365	0.68495	0.442	0.49811	0.807798298722	0.80599	0.41509266267440703	0.41425	0.157486115895	0.17784	0.393272578716	0.24130	T	0.175314	0.52485	T	-0.14116	0.29705	T	-0.237889	0.51004	T	0.451927125453949	0.30868	T	0.189581	0.03180	T	0.0685733	0.14949	0.15817519	0.36951	0.0685733	0.14949	0.15817519	0.36950	-6.881	0.53158	T	.	.	0.091	0.20547	B	.;.;.;.	.;.;.;.	1.662777	0.21203	15.10	0.99570272767261525	0.72318	0.12085	0.17050	N	AEFBCI	0.099480	0.20025	N	-0.526517194693537	0.21225	1.124895	-0.620276712888153	0.18972	1.015905	7.41986640805909E-4	0.07741	0.421363	0.06395	0	0.550933	0.16991	0	0.514364	0.09456	0	0.613276	0.41899	0	.	.	3.65	-1.61	0.07951	-0.185000	0.09679	-0.973000	0.06739	0.531000	0.24825	0.000000	0.06391	0.000000	0.08366	0.333000	0.25271	0.2915:0.3969:0.3115:0.0	7.599	0.27233	958	0.09170	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1210.33	58	chr19	2410309	.	C	T	1210.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.228;DP=828;ExcessHet=0;FS=2.338;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-1.336;SOR=0.97	GT:AD:DP:GQ:PL	0/1:66,55:121:99:1224,0,1623	18	0	1	0
chr19	3179933	3179933	G	A	exonic	S1PR4	.	nonsynonymous SNV	S1PR4:NM_003775:exon1:c.G1141A:p.V381M	.	418	1096	8	0	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.0894072941262	0.0004	0.000199681	0.0005	0.0002	0.0002	0	0	0.0007	0.0013	0.0007	0.0004528	70	154602	rs201273565	0.0004	0.0004	0.0004	0.0004	0.0015	0.0004	0.0004	0.0008	0.0006	0	0.0006	0.0009	0	2.045e-05	0.0015	0.0004	0.0007	0.0009	0.0004	0.0004	0.0004	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	9.621e-05	0	0.0003	0.0006	0	0	0	0.0006	0.0009	0.0006	0.006	0.61437	D	0.352	0.17372	T	0.007	0.14184	B	0.004	0.10090	B	0.341185	0.13960	N	0.582611	0.853967	0.28455	N	2.075	0.57047	M	-1.62	0.82347	D	-0.29	0.11728	N	0.085	0.06190	-0.6825	0.61257	T	0.316	0.68584	T	10	0.02049172	0.00473	T	0.089407	0.75321	D	0.244	0.55061	.	.	0.309278343525	0.30543	0.4292608400006026	0.42843	0.745273624272	0.63487	0.65470802784	0.60655	T	0.041305	0.25814	T	-0.318036	0.07059	T	-0.325864	0.41928	T	0.0183917208350645	0.00557	T	0.591241	0.21771	T	0.06619201	0.14220	0.08312561	0.19025	0.06619201	0.14219	0.08312561	0.19025	-5.395	0.40871	T	.	.	0.261	0.49586	B	.	.	2.802654	0.36869	20.4	0.99619823735558655	0.75353	0.57273	0.30333	D	AEFDGBHCI	.	.	.	-0.457495989619361	0.23487	1.26161	-0.346775377632961	0.26610	1.470882	0.999999998556595	0.74766	0.580535	0.33130	0	0.52208	0.09955	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	3.85	1.62	0.22817	0.774000	0.26337	3.573000	0.39130	0.575000	0.29119	0.931000	0.32310	1.000000	0.68203	0.955000	0.50612	0.3008:0.0:0.6992:0.0	7.580	0.27128	988	0.01987	.	.	.	.	.	.	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	0.003021	0.000000	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	962.33	35	chr19	3179933	.	G	A	962.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=759;ExcessHet=0;FS=5.045;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.616;SOR=1.383	GT:AD:DP:GQ:PL	0/1:40,35:75:99:976,0,1041	18	0	1	0
chr19	4174700	4174700	C	T	exonic	SIRT6	.	nonsynonymous SNV	SIRT6:NM_001321061:exon6:c.G688A:p.A230T,SIRT6:NM_001321062:exon6:c.G580A:p.A194T,SIRT6:NM_001193285:exon7:c.G904A:p.A302T,SIRT6:NM_001321058:exon7:c.G769A:p.A257T,SIRT6:NM_001321059:exon7:c.G802A:p.A268T,SIRT6:NM_016539:exon8:c.G985A:p.A329T	.	432	1088	2	0	0	2	0.000918274	.	.	.	2376814	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.0364158214322	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs200236361	3.583e-05	5.883e-05	3.708e-05	3.45e-05	0.0004	2.761e-05	2.474e-05	8.265e-05	6.353e-05	3.454e-05	4.493e-05	0	0	9.143e-05	0.0004	2.697e-05	1.846e-05	0.0002	3.962e-05	3.948e-05	2.579e-05	5.414e-05	0.0002	1.722e-05	1.134e-05	1.173e-05	6.25e-06	2.426e-05	0	0	0	0.0002	0	0	4.42e-05	0	0.0002	0.529	0.07048	T	0.545	0.09588	T	0.0	0.02946	B	0.001	0.04355	B	0.025598	0.01633	N	2.551680	1	0.08975	N	0.55	0.14455	N	1.94	0.30669	T	-0.15	0.09297	N	0.033	0.00882	-1.0376	0.18048	T	0.032	0.13854	T	10	0.03673181	0.01987	T	0.036416	0.56977	D	0.079	0.23065	.	.	0.0611884634855	0.05136	0.16171475874538493	0.16092	0.353949585087	0.37183	0.436620056629	0.30115	T	0.072041	0.34357	T	-0.227986	0.16915	T	-0.565263	0.15886	T	0.018628353967668	0.00577	T	0.50435	0.18460	T	0.052054	0.09652	0.054560944	0.09408	0.052054	0.09651	0.054560944	0.09407	-4.545	0.33015	T	.	.	0.076	0.06114	B	.;.;.	.;.;.	-1.126710	0.00609	0.016	0.96791436934037434	0.31113	0.00984	0.03747	N	AEFDBI	0.057118	0.10615	N	-1.31925073572652	0.03455	0.1543634	-1.30900778146542	0.04313	0.2031509	0.16319916360632	0.17624	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	3.38	-1.92	0.07203	-1.935000	0.01641	-10.049000	0.00745	0.520000	0.23804	0.000000	0.06391	0.000000	0.08366	0.275000	0.23893	0.0:0.524:0.0:0.476	6.676	0.22283	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	.	.	.	.	.	.	.	.	0.02632	1138.33	34	chr19	4174700	.	C	T	1138.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=725;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=0.619;SOR=0.794	GT:AD:DP:GQ:PL	0/1:38,44:82:99:1152,0,806	18	0	1	0
chr19	6677923	6677923	C	T	exonic	C3	.	nonsynonymous SNV	C3:NM_000064:exon41:c.G4951A:p.A1651T	C3 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.123481355358	.	.	.	.	.	.	.	.	.	.	3.23e-05	5	154602	rs756442896	1.368e-06	2.052e-06	2.722e-06	0	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	0.07140	T	0.422	0.92824	T	0.0	0.02946	B	0.0	0.01387	B	0.120423	0.02720	N	1.773400	1	0.08975	N	0.65	0.16133	N	0.34	0.79277	T	-0.08	0.08187	N	0.03	0.00717	-1.0290	0.20778	T	0.071	0.28936	T	10	0.047243416	0.04017	T	0.123481	0.80466	D	0.054	0.15330	0.318	0.29581	0.295226631146	0.29124	0.4768595530478563	0.47605	0.562505004797	0.52722	0.358089596033	0.19107	T	0.047653	0.27785	T	-0.529167	0.00388	T	-0.573422	0.15137	T	0.0292851876019788	0.01880	T	0.135486	0.05229	T	0.053113025	0.10005	0.084950775	0.19580	0.053113025	0.10004	0.084950775	0.19580	-3.618	0.18118	T	0.044409445059648466	0.00531	0.072	0.04396	B	.;.	.;.	-0.481944	0.01925	0.162	0.77090045558918197	0.11732	0.02040	0.06108	N	AEFDGBHCI	0.424610	0.48971	N	-1.95794113772841	0.00260	0.01115742	-1.96750525056822	0.00358	0.01581394	0.9999999999531	0.74766	0.741868	0.97996	0	0.607795	0.50457	0	0.774882	0.98623	0	0.505526	0.08623	0	.	.	5.08	-5.59	0.02305	-1.250000	0.02995	-3.359000	0.02847	-2.229000	0.00345	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1028:0.6605:0.0:0.2366	11.878	0.51835	929	0.16858	Netrin domain|Complement C3-like, NTR 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	.	.	.	.	.	.	.	.	0.02632	190.33	33	chr19	6677923	.	C	T	190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.304;DP=1477;ExcessHet=0;FS=86.569;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.7;ReadPosRankSum=0.079;SOR=6.869	GT:AD:DP:GQ:PL	0/1:82,30:112:99:204,0,1857	18	0	1	0
chr19	7632457	7632457	C	G	exonic	PCP2	.	nonsynonymous SNV	PCP2:NM_001271830:exon3:c.G179C:p.R60P,PCP2:NM_174895:exon3:c.G227C:p.R76P	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.021758965142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.01	0.65728	D	0.979	0.59044	D	0.811	0.58656	P	0.001116	0.40219	N	0.094449	0.619422	0.30793	N	2.705	0.79137	M	.	.	.	-5.66	0.87063	D	0.752	0.75374	-0.6802	0.61363	T	0.199	0.55414	T	9	0.75906444	0.76205	D	0.021759	0.44572	T	0.280	0.59740	0.504	0.59770	0.347438807231	0.34349	0.7720059960185736	0.77150	0.6558677936	0.58620	0.475859940052	0.35488	T	0.730482	0.92453	D	0.221112	0.75881	D	0.0798357	0.75566	D	0.975552380084991	0.70985	D	0.966503	0.87759	D	0.78189725	0.82770	0.7860591	0.87401	0.78189725	0.82772	0.7860591	0.87402	-12.786	0.89018	D	.	.	0.708	0.77144	P	.;.	.;.	4.613872	0.73190	26.0	0.99707940630585123	0.81143	0.65358	0.32711	D	AEFBCI	0.615200	0.60223	D	0.370835432518029	0.59848	4.167737	0.289104563007866	0.54903	3.654036	0.999858668042904	0.44174	0.631515	0.41029	0	0.697927	0.68747	0	0.536957	0.11973	0	0.733575	0.97253	0	.	.	4.9	1.25	0.20475	0.794000	0.26619	1.626000	0.27713	0.589000	0.31548	0.955000	0.33325	1.000000	0.68203	0.987000	0.62547	0.1577:0.6615:0.0:0.1807	5.502	0.16125	867	0.32089	.;GoLoco motif|GoLoco motif|GoLoco motif	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	903.33	33	chr19	7632457	.	C	G	903.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.396;DP=684;ExcessHet=0;FS=1.13;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.42;ReadPosRankSum=-0.197;SOR=0.998	GT:AD:DP:GQ:PL	0/1:18,37:55:99:917,0,352	18	0	1	0
chr19	7745992	7745992	A	G	exonic	CD209	.	nonsynonymous SNV	CD209:NM_001144893:exon2:c.T142C:p.S48P,CD209:NM_001144894:exon2:c.T142C:p.S48P,CD209:NM_001144896:exon3:c.T202C:p.S68P,CD209:NM_001144895:exon4:c.T274C:p.S92P,CD209:NM_001144897:exon4:c.T274C:p.S92P,CD209:NM_021155:exon4:c.T274C:p.S92P	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00127886162933	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1268703072	6.841e-07	6.841e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	6.73e-06	5.314e-05	1.315e-05	0	1.495e-05	0	0	.	.	0	0	0	0	0	0	0	1.495e-05	0	0	0.076	0.34269	T	0.129	0.34959	T	0.004	0.59675	B	0.005	0.70163	B	.	.	.	.	1	0.08975	N	0.09	0.08384	N	4.02	0.03178	T	-1.33	0.39692	N	0.095	0.17002	-0.9385	0.42853	T	0.011	0.03903	T	8	0.044313222	0.03374	T	0.001279	0.01759	T	0.015	0.02232	0.221	0.14371	0.0551355673512	0.04727	0.02667073426301954	0.02617	0.0671397195829	0.07503	0.419848144054	0.27815	T	0.084818	0.37364	T	-0.292944	0.09343	T	-0.65857	0.08363	T	0.0468849296981804	0.04944	T	0.444656	0.21082	T	0.12752323	0.29840	0.24334762	0.49777	0.12752323	0.29839	0.24334762	0.49776	0.509	0.00321	T	.	.	0.059	0.01197	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-0.034697	0.04048	0.937	0.60569321685566047	0.06495	0.00120	0.00751	N	AEFBI	0.085689	0.17372	N	-1.44075456600281	0.02290	0.1009745	-1.55098494452191	0.01969	0.08992783	1.0329911135446E-4	0.05123	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	0.354	-0.708	0.10675	-0.166000	0.09943	-1.458000	0.05393	-0.529000	0.04963	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	8694.33	34	chr19	7745992	.	A	G	8694.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.813;DP=1064;ExcessHet=0;FS=1.105;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.18;MQRankSum=-2.149;QD=20.8;ReadPosRankSum=0.585;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:196,222:418:99:0|1:7745992_A_G:8708,0,7488:7745992	18	0	1	0
chr19	7745995	7745995	G	A	exonic	CD209	.	nonsynonymous SNV	CD209:NM_001144893:exon2:c.C139T:p.L47F,CD209:NM_001144894:exon2:c.C139T:p.L47F,CD209:NM_001144896:exon3:c.C199T:p.L67F,CD209:NM_001144895:exon4:c.C271T:p.L91F,CD209:NM_001144897:exon4:c.C271T:p.L91F,CD209:NM_021155:exon4:c.C271T:p.L91F	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00164214037795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.53172	D	0.062	0.49120	T	1.0	0.90584	D	0.998	0.92359	D	.	.	.	.	1	0.08975	N	1.74	0.45129	L	3.6	0.14038	T	-1.17	0.36385	N	0.11	0.36989	-0.7184	0.59541	T	0.353	0.71642	T	8	0.10297099	0.18902	T	0.001642	0.02676	T	0.049	0.13647	0.323	0.30387	0.149567049428	0.14543	0.0604076617298518	0.05980	0.338652916292	0.35826	0.409723103046	0.26419	T	0.103127	0.41150	T	-0.307987	0.07926	T	-0.680179	0.06973	T	0.223416342626444	0.21633	T	0.70223	0.50110	T	0.09942723	0.23464	0.10950843	0.26394	0.09942723	0.23464	0.10950843	0.26394	-8.829	0.67981	D	.	.	0.122	0.40984	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.086044	0.14694	11.25	0.98998213485448783	0.50086	0.00084	0.00566	N	AEFBI	0.067891	0.13367	N	-0.672588854485142	0.16805	0.8594393	-0.993960005359008	0.09920	0.4964244	1.00622107601262E-4	0.04910	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	0.354	-0.708	0.10675	0.832000	0.27143	-1.487000	0.05328	-0.281000	0.06419	0.005000	0.17040	0.000000	0.08366	0.002000	0.04165	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	8730.33	34	chr19	7745995	.	G	A	8730.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.894;DP=1067;ExcessHet=0;FS=1.11;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.24;MQRankSum=-2.126;QD=20.89;ReadPosRankSum=0.302;SOR=0.795	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,223:418:99:0|1:7745992_A_G:8744,0,7452:7745992	18	0	1	0
chr19	8335375	8335375	G	A	exonic	KANK3	.	nonsynonymous SNV	KANK3:NM_198471:exon3:c.C452T:p.P151L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0957930192283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.23813	T	0.665	0.06406	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	0.859194	0.35357	D	0.69	0.16971	N	1.8	0.25344	T	-0.12	0.08809	N	0.037	0.01135	-1.0706	0.09282	T	0.041	0.17785	T	9	0.10317618	0.18953	T	0.095793	0.76490	D	0.042	0.11227	0.146	0.04941	0.200317383148	0.19677	0.21657672849962128	0.21573	.	.	0.797208786011	0.81538	T	0.002132	0.01537	T	-0.272442	0.11486	T	-0.62912	0.10482	T	0.0932334050684199	0.11596	T	0.582242	0.21111	T	0.03589119	0.04310	0.07257228	0.15673	0.03589119	0.04310	0.07257228	0.15672	-4.107	0.25394	T	.	.	0.069	0.03515	B	.;.	.;.	1.331869	0.17371	13.12	0.99583564167972149	0.73159	0.08074	0.14046	N	AEFDGBHCI	0.068184	0.13438	N	-0.686659936579182	0.16400	0.8352725	-0.666425960013619	0.17802	0.9482433	0.999999492072957	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	3.63	-0.518	0.11347	-0.152000	0.10145	.	.	-0.304000	0.06167	0.732000	0.28943	0.826000	0.27170	0.011000	0.09372	0.4018:0.1817:0.4165:0.0	3.849	0.08457	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	.	.	.	.	.	.	.	.	0.02632	538.33	21	chr19	8335375	.	G	A	538.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=444;ExcessHet=0;FS=6.329;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.71;ReadPosRankSum=0.617;SOR=1.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,14:26:99:0|1:8335375_G_A:552,0,462:8335375	18	0	1	0
chr19	8335378	8335378	G	A	exonic	KANK3	.	nonsynonymous SNV	KANK3:NM_198471:exon3:c.C449T:p.A150V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0643812916599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.573e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.07846	T	0.282	0.21545	T	0.049	0.22227	B	0.017	0.18140	B	.	.	.	.	0.996566	0.22975	N	0.68	0.16426	N	1.7	0.26885	T	-0.32	0.12283	N	0.024	0.00485	-0.9912	0.32295	T	0.051	0.21611	T	9	0.09137985	0.16001	T	0.064381	0.69260	D	0.040	0.10527	0.145	0.04843	0.255270683199	0.25152	0.21419246667678196	0.21335	.	.	0.804814457893	0.82696	D	0.004317	0.03729	T	-0.300247	0.08637	T	-0.66906	0.07669	T	0.0803980998470497	0.10039	T	0.468553	0.13811	T	0.022416295	0.00902	0.081898935	0.18649	0.022416295	0.00902	0.081898935	0.18649	-5.179	0.38728	T	.	.	0.074	0.05060	B	.;.	.;.	1.258069	0.16555	12.62	0.99696545085082611	0.80316	0.02604	0.07175	N	ALL	0.074083	0.14839	N	-0.658418685647658	0.17216	0.8839786	-0.683570739093016	0.17371	0.9233806	0.999999569769105	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	3.81	-1.33	0.08693	-0.364000	0.07635	.	.	-0.245000	0.07249	0.000000	0.06391	0.001000	0.17328	0.011000	0.09372	0.1758:0.1442:0.5318:0.1482	2.582	0.04527	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	.	.	.	.	.	.	.	.	0.02632	538.33	21	chr19	8335378	.	G	A	538.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.759;DP=448;ExcessHet=0;FS=6.329;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.71;ReadPosRankSum=0.592;SOR=1.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,14:26:99:0|1:8335375_G_A:552,0,462:8335375	18	0	1	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	423.41	466	chr19	8888826	.	T	*	423.41	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.69;DP=7860;ExcessHet=48.2876;FS=8.285;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.63;MQRankSum=-9.46;QD=0.05;ReadPosRankSum=0.739;SOR=1.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:258,70:384:99:0|1:8888826_T_*:2163,0,10623:8888826	2	0	17	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	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3684	3536.2	316	chr19	8900017	.	C	G	3536.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.263;DP=4309;ExcessHet=17.0548;FS=3.59;InbreedingCoeff=-0.555;MLEAC=14;MLEAF=0.368;MQ=58.99;MQRankSum=-14.78;QD=0.96;ReadPosRankSum=1.67;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:244,19:263:63:0|1:8900009_C_T:63,0,10111:8900009	5	0	14	0
chr19	8960197	8960197	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.T16573C:p.S5525P	.	435	1076	10	1	0	12	0.00554529	.	.	.	716820	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.041	.	0.0051	0.00479233	0.0083	0.0013	0.0018	0	0.0181	0.0119	0.0067	0.0027	0.0079947	1236	154602	rs79202331	0.0082	0.0082	0.0082	0.0082	0.0111	0.0081	0.0080	0.0089	0.0087	0.0010	0.0025	0.0144	2.519e-05	0.0177	0.0111	0.0089	0.0071	0.0024	0.0072	0.0072	0.0072	0.0072	0.0097	0.0069	0.0067	0.0091	0.0088	0.0015	0	0.0075	0.0130	0	0.0172	0.0204	0.0097	0.0076	0.0029	0.097	0.30943	T	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.19	0.02716	T	-0.54	0.16598	N	0.036	0.01068	-0.9867	0.33420	T	0.005	0.01833	T	8	0.0048202574	0.00102	T	.	.	.	0.041	0.10877	.	.	0.0297737177859	0.01360	0.022173761645922854	0.02169	.	.	0.198162183166	0.00405	T	.	.	.	-0.73462	0.00022	T	-0.815033	0.01555	T	0.0015036828539327	0.00015	T	0.150285	0.01269	T	.	.	.	.	.	.	.	.	-5.308	0.40022	T	.	.	0.093	0.14015	B	.	.	0.592832	0.09614	6.386	0.28077173634888841	0.01424	0.01306	0.04530	N	AEFBI	0.034542	0.04297	N	-1.25663538588278	0.04213	0.1897029	-1.33152552968312	0.04028	0.1891625	1.16888634297352E-4	0.05269	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.89	0.851	0.18128	0.085000	0.14759	.	.	-0.230000	0.07744	0.005000	0.17040	0.000000	0.08366	0.032000	0.13371	0.8048:0.0:0.1952:0.0	3.871	0.08542	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	1	0	0.007049	0.000000	0.004076	0.011696	0.000000	0.008621	0.012195	0.003788	0.07895	8554.79	165	chr19	8960197	.	A	G	8554.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.287;DP=2949;ExcessHet=0.3672;FS=0.521;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.32;SOR=0.758	GT:AD:DP:GQ:PL	0/1:89,104:195:99:3053,0,2468	16	0	3	0
chr19	10089677	10089677	G	C	exonic	SHFL	.	nonsynonymous SNV	SHFL:NM_001308277:exon4:c.G216C:p.K72N,SHFL:NM_018381:exon4:c.G216C:p.K72N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1389	166.94	111	chr19	10089677	.	G	C	166.94	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-3.657;DP=1634;ExcessHet=1.3;FS=278.301;InbreedingCoeff=-0.1758;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=-0.038;SOR=11.394	GT:AD:DP:GQ:PL	0/1:63,26:89:25:25,0,1252	13	0	5	1
chr19	10350910	10350910	T	C	exonic	TYK2	.	nonsynonymous SNV	TYK2:NM_001385197:exon24:c.A3377G:p.E1126G,TYK2:NM_001385198:exon24:c.A3338G:p.E1113G,TYK2:NM_001385199:exon24:c.A3302G:p.E1101G,TYK2:NM_001385201:exon24:c.A3290G:p.E1097G,TYK2:NM_001385200:exon25:c.A3485G:p.E1162G,TYK2:NM_001385204:exon25:c.A3698G:p.E1233G,TYK2:NM_001385205:exon25:c.A3398G:p.E1133G,TYK2:NM_001385206:exon25:c.A3362G:p.E1121G,TYK2:NM_001385207:exon25:c.A3470G:p.E1157G,TYK2:NM_003331:exon25:c.A3488G:p.E1163G,TYK2:NM_001385202:exon26:c.A3404G:p.E1135G,TYK2:NM_001385203:exon26:c.A3569G:p.E1190G	Immunodeficiency 35, Autosomal recessive	1	1402	108	11	0	130	0.0443081	.	.	.	468200	not_specified|not_provided|Immunodeficiency_35	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012682,MedGen:C1969086,OMIM:611521,Orphanet:331226	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.031	.	0.0026	0.00658946	0.0067	0.0008	0.0019	0.0001	0.0017	0.0038	0.0088	0.0311	0.0060025	928	154602	rs55886939	0.0039	0.0039	0.0030	0.0049	0.0306	0.0039	0.0038	0.0296	0.0292	0.0004	0.0016	0.0039	2.519e-05	0.0019	0.0248	0.0022	0.0052	0.0306	0.0032	0.0032	0.0029	0.0036	0.0294	0.0030	0.0029	0.0255	0.0240	0.0005	0	0.0036	0.0043	0.0002	0.0021	0.0272	0.0032	0.0047	0.0294	0.02	0.49613	D	0.213	0.26714	T	0.0	0.02946	B	0.006	0.12133	B	0.540135	0.11545	N	0.744173	0.999403	0.21520	N	0.65	0.16133	N	-1.71	0.83157	D	-1.88	0.43906	N	0.15	0.16028	-1.0092	0.27167	T	0.090	0.34683	T	10	0.0062526166	0.00141	T	.	.	.	0.224	0.52174	.	.	0.832625569796	0.83103	0.2781677214498707	0.27729	0.262748586861	0.28834	0.308513373137	0.11682	T	0.356059	0.72297	T	-0.352291	0.04585	T	-0.255821	0.49241	T	0.020755482438709	0.00775	T	0.19768	0.06085	T	0.27860284	0.50913	0.22806673	0.47836	0.33965775	0.56252	0.24295966	0.49728	-4.006	0.23893	T	.	.	0.081	0.08320	B	.;.;.	.;.;.	2.704222	0.35333	19.87	0.99295829267216951	0.58433	0.92413	0.55654	D	AEFBHI	0.307691	0.41449	N	0.0419748116485306	0.43773	2.663794	0.128050775842209	0.45991	2.852466	0.0473693968275403	0.14727	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	1.646000	0.36865	4.984000	0.46482	0.588000	0.31329	0.974000	0.34632	1.000000	0.68203	0.388000	0.26514	0.0:0.0:0.0:1.0	13.877	0.63158	773	0.48803	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic 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	1	0	0.020645	0.005051	0.012228	0.023392	0.000000	0.025862	0.045732	0.026515	0.1316	11463.4	35	chr19	10350910	.	T	C	11463.4	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.968;DP=1439;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.093;SOR=0.677	GT:AD:DP:GQ:PL	0/1:82,79:161:99:2140,0,2311	14	0	5	0
chr19	10378250	10378250	C	T	exonic	TYK2	.	nonsynonymous SNV	TYK2:NM_001385197:exon3:c.G157A:p.A53T,TYK2:NM_001385198:exon3:c.G157A:p.A53T,TYK2:NM_001385199:exon3:c.G157A:p.A53T,TYK2:NM_001385200:exon3:c.G157A:p.A53T,TYK2:NM_001385201:exon3:c.G157A:p.A53T,TYK2:NM_001385202:exon3:c.G157A:p.A53T,TYK2:NM_001385203:exon3:c.G157A:p.A53T,TYK2:NM_001385204:exon3:c.G157A:p.A53T,TYK2:NM_001385205:exon3:c.G157A:p.A53T,TYK2:NM_001385206:exon3:c.G157A:p.A53T,TYK2:NM_001385207:exon3:c.G157A:p.A53T,TYK2:NM_003331:exon3:c.G157A:p.A53T	Immunodeficiency 35, Autosomal recessive	0	1498	23	1	0	25	0.00827541	.	.	.	377042	not_specified|Immunodeficiency_35|not_provided	MedGen:CN169374|MONDO:MONDO:0012682,MedGen:C1969086,OMIM:611521,Orphanet:331226|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.458	.	0.0084	0.00379393	0.0080	0.0023	0.0038	0.0002	0.0050	0.0108	0.0113	0.0085	0.0078848	1219	154602	rs55762744	0.0095	0.0095	0.0095	0.0095	0.0108	0.0094	0.0093	0.0106	0.0106	0.0012	0.0037	0.0052	2.519e-05	0.0054	0.0106	0.0108	0.0075	0.0086	0.0072	0.0072	0.0073	0.0072	0.0116	0.0069	0.0067	0.0109	0.0106	0.0018	0	0.0063	0.0058	0.0002	0.0052	0.0408	0.0116	0.0080	0.0083	0.033	0.91255	D	0.004	0.74150	D	0.997	0.90584	D	0.922	0.97372	D	0.000206	0.47681	D	0.000000	0.994144	0.81001	D	2.87	0.83286	M	-0.89	0.74793	T	-3.24	0.67824	D	0.631	0.68950	0.014	0.82533	D	0.449	0.78396	T	10	0.0094073415	0.00212	T	.	.	.	0.458	0.75619	.	.	0.832408338325	0.83081	0.8213217367268504	0.82089	0.924448990043	0.71586	0.603025615215	0.53331	T	0.33245	0.70241	T	-0.262517	0.12608	T	-0.140469	0.60077	T	0.0123459108572886	0.00201	T	0.875712	0.60074	D	0.4009338	0.60797	0.26869807	0.52742	0.29724216	0.52656	0.28160226	0.54142	-7.226	0.55668	T	.	.	0.158	0.48008	B	.;.;.;.;.	.;.;.;.;.	4.159109	0.62453	24.5	0.99820100130271594	0.90326	0.93084	0.57286	D	AEFDBHI	0.402883	0.47679	N	0.344370839548131	0.58443	4.016571	0.20844889128397	0.50315	3.224917	0.999479541824851	0.39898	0.706298	0.61202	0	0.672317	0.65289	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.66	4.66	0.57857	4.499000	0.60101	7.532000	0.59933	0.563000	0.28513	0.994000	0.38300	1.000000	0.68203	0.085000	0.17524	0.0:1.0:0.0:0.0	13.480	0.60782	809	0.43032	FERM domain|Band 4.1 domain;FERM domain|Band 4.1 domain;FERM domain|Band 4.1 domain;FERM domain;.	KANK2	Heart_Atrial_Appendage	TYK2|TYK2|TYK2|TYK2|TYK2	Adipose_Subcutaneous|Artery_Aorta|Lung|Skin_Sun_Exposed_Lower_leg|Spleen	rs55762744	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.012121	0.000000	0.010870	0.008772	0.000000	0.025862	0.018519	0.015267	0.05263	4448.83	33	chr19	10378250	.	C	T	4448.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.96;DP=896;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.385;SOR=0.686	GT:AD:DP:GQ:PL	0/1:72,86:158:99:2138,0,1828	17	0	2	0
chr19	11236849	11236849	C	T	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_001367830:exon19:c.G2104A:p.G702S,DOCK6:NM_020812:exon19:c.G2104A:p.G702S	Adams-Oliver syndrome 2, Autosomal recessive	0	1481	38	3	0	44	0.0146374	.	.	.	514258	DOCK6-related_disorder|not_provided|Adams-Oliver_syndrome_2	.|MedGen:C3661900|MONDO:MONDO:0013635,MedGen:C3280182,OMIM:614219,Orphanet:974	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.093	.	0.0008	0.00199681	0.0062	0.0009	0.0047	0	0.0192	0.0028	0.0053	0.0120	0.0014553	225	154602	rs199838752	0.0019	0.0019	0.0015	0.0022	0.0118	0.0018	0.0018	0.0112	0.0109	0.0001	0.0008	0.0040	2.778e-05	0.0015	0.0091	0.0012	0.0023	0.0118	0.0013	0.0013	0.0013	0.0013	0.0087	0.0012	0.0011	0.0066	0.0059	0.0004	0	0.0007	0.0055	0.0002	0.0016	0.0136	0.0013	0.0014	0.0087	0.017	0.51248	D	0.321	0.19073	T	0.586	0.38931	P	0.211	0.37346	B	0.000237	0.47286	D	0.173369	0.776653	0.34216	D	1.72	0.44442	L	1.69	0.27032	T	-3.76	0.71276	D	0.271	0.30687	-0.9394	0.42711	T	0.056	0.23639	T	10	0.00919348	0.00208	T	.	.	.	0.093	0.26882	.	.	0.414281671643	0.41045	0.5572741867770362	0.55654	0.352166808134	0.37058	0.556195914745	0.46730	T	0.138703	0.47233	T	-0.514771	0.00472	T	-0.502814	0.22056	T	0.0360450584337314	0.02988	T	0.812119	0.46368	T	0.19699134	0.41548	0.23599456	0.48859	0.19699134	0.41547	0.23599456	0.48858	-4.96	0.36403	T	.	.	0.081	0.08176	B	.	.	3.503437	0.49029	22.7	0.99803746337406507	0.88817	0.73063	0.35744	D	AEFDBHCIJ	0.244935	0.36595	N	0.255939982699271	0.53933	3.560307	0.281550120516721	0.54463	3.611177	0.999999985886754	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	4.66	3.62	0.40616	3.157000	0.50414	.	.	0.599000	0.40250	0.929000	0.32243	0.999000	0.35428	0.940000	0.48062	0.0:0.7138:0.0:0.2862	5.400	0.15591	830	0.39242	DHR-1 domain|DHR-1 domain|Dedicator of cytokinesis C, C2 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	0.004184	0.000000	0.005698	0.008929	0.000000	0.000000	0.003205	0.003937	0.02632	2907.33	73	chr19	11236849	.	C	T	2907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=976;ExcessHet=0;FS=1.014;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=2.55;SOR=0.609	GT:AD:DP:GQ:PL	0/1:112,117:229:99:2921,0,2508	18	0	1	0
chr19	11723215	11723215	C	T	exonic	ZNF823	.	nonsynonymous SNV	ZNF823:NM_017507:exon3:c.G187A:p.V63I,ZNF823:NM_001080493:exon4:c.G319A:p.V107I	.	425	1096	1	0	0	1	0.000455996	.	.	.	2351585	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.010	0.000586872421554	7.7e-05	0.000399361	9.901e-05	0	0	0.0008	0	5.994e-05	0.0011	0	0.0001035	16	154602	rs199580884	7.114e-05	7.114e-05	6.534e-05	7.7e-05	0.0011	5.98e-05	5.588e-05	0.0008	0.0007	2.987e-05	2.236e-05	0	0.0011	0	0.0002	3.597e-05	0.0002	9.275e-05	0.0001	0.0001	0.0001	6.717e-05	0.0010	6.509e-05	5.321e-05	0.0004	0.0002	9.632e-05	0	0	0	0.0010	0	0	7.35e-05	0.0005	0.0002	0.218	0.22660	T	0.098	0.39040	T	0.007	0.14184	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.51	0.02586	N	4.17	0.06523	T	0.33	0.04306	N	0.032	0.00825	-0.9451	0.41797	T	0.008	0.02884	T	9	0.012087375	0.00261	T	5.87E-4	0.00260	T	0.010	0.01040	.	.	0.134241683229	0.13084	0.034386328139018485	0.03386	0.332866775695	0.35330	0.210557624698	0.00835	T	0.009139	0.09213	T	-0.618625	0.00112	T	-0.756475	0.03241	T	0.0106963198050659	0.00150	T	0.0455454	0.00323	T	0.023240183	0.01046	0.026584785	0.00755	0.023240183	0.01046	0.026584785	0.00755	-3.075	0.11011	T	.	.	0.072	0.04640	B	.;.	.;.	-0.942323	0.00857	0.030	0.70187902391041834	0.09214	0.00017	0.00201	N	AEFDBHCI	0.013668	0.00190	N	-2.07876923513659	0.00142	0.006097638	-2.18233744688283	0.00123	0.005388677	0.902094539559277	0.26118	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	0.632	-1.26	0.08892	-0.091000	0.11111	.	.	-6.535000	0.00003	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3126:0.3164:0.162:0.209	0.407	0.00405	929	0.16858	.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1923.33	41	chr19	11723215	.	C	T	1923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.02;DP=833;ExcessHet=0;FS=0.536;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=0.988;SOR=0.618	GT:AD:DP:GQ:PL	0/1:124,77:201:99:1937,0,3144	18	0	1	0
chr19	11806045	11806045	T	C	exonic	ZNF491	.	nonsynonymous SNV	ZNF491:NM_152356:exon3:c.T92C:p.L31P	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.000690394756948	.	0.000199681	6.659e-05	0	0	0.0006	0	3.025e-05	0.0011	0	6.47e-05	10	154602	rs546146723	7.252e-05	7.251e-05	7.216e-05	7.29e-05	0.0017	6.115e-05	5.7e-05	0.0013	0.0012	0	0	0	0.0017	0	0.0003	2.338e-05	0.0001	5.802e-05	3.939e-05	3.937e-05	5.14e-05	2.685e-05	0.0006	1.714e-05	1.129e-05	0.0002	8.375e-05	0	0	0	0	0.0006	0	0	1.47e-05	0.0005	0.0002	0.236	0.18246	T	0.244	0.26714	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	2.43	0.15261	T	0.41	0.03407	N	0.094	0.07398	-0.9889	0.32878	T	0.018	0.07329	T	9	0.042735726	0.03051	T	6.9E-4	0.00418	T	0.099	0.28413	0.644	0.78117	0.0297737177859	0.01360	0.014153387235181975	0.01372	0.0268837342659	0.02745	0.216991066933	0.01143	T	0.002251	0.01652	T	-0.491818	0.00635	T	-0.581206	0.14438	T	0.00799872482568026	0.00095	T	0.00170852	0.00821	T	0.038460705	0.05127	0.05225913	0.08575	0.038460705	0.05127	0.05225913	0.08574	-2.992	0.10095	T	.	.	0.067	0.08997	B	.;.	.;.	0.998644	0.13771	10.32	0.89206250868403159	0.18600	0.00010	0.00151	N	AEFBCI	0.015261	0.00282	N	-1.34403963589904	0.03187	0.1419524	-1.41622230812692	0.03089	0.1434398	9.12450480873025E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.01	-0.108	0.12926	-1.126000	0.03365	.	.	-0.394000	0.05329	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.422:0.3263:0.2517	2.432	0.04200	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	.	.	.	.	.	.	.	.	0.02632	1207.33	34	chr19	11806045	.	T	C	1207.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.837;DP=757;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.256;SOR=0.644	GT:AD:DP:GQ:PL	0/1:71,44:115:99:1221,0,2061	18	0	1	0
chr19	12076205	12076205	G	A	exonic	ZNF844	.	nonsynonymous SNV	ZNF844:NM_001136501:exon4:c.G1085A:p.R362K	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0009	0.0203674	0.0103	0.0013	0.0004	0.1387	0.0089	0.0036	0.012	0.0017	0.0057114	883	154602	rs79356129	0.0040	0.0040	0.0040	0.0039	0.1116	0.0039	0.0039	0.1088	0.1077	0.0002	0.0001	0.0019	0.1116	0.0054	0.0007	0.0005	0.0066	0.0013	0.0041	0.0041	0.0034	0.0048	0.0880	0.0038	0.0037	0.0813	0.0787	0.0004	0	0.0005	0.0026	0.0880	0.0048	0	0.0011	0.0029	0.0019	1.0	0.00964	T	1.0	0.01155	T	0.047	0.21998	B	0.033	0.22329	B	.	.	.	.	1	0.18198	N	-0.065	0.04868	N	3.29	0.06445	T	1.69	0.00584	N	0.077	0.05162	-0.9488	0.41177	T	0.000	0.00039	T	9	0.0035104454	0.00063	T	.	.	.	0.036	0.09122	.	.	0.0138822411134	0.00435	0.017212415975688945	0.01676	0.010741408872	0.00990	0.248823910952	0.03644	T	0.001038	0.00564	T	-0.796285	0.00008	T	-0.786765	0.02255	T	0.000835690929903807	0.00008	T	0.606739	0.22845	T	0.03534941	0.04144	0.04408981	0.05634	0.03534941	0.04144	0.04408981	0.05634	-0.805	0.00807	T	.	.	0.137	0.29941	B	.	.	-1.223819	0.00508	0.011	0.30995835526489429	0.01724	0.00000	0.00017	N	AEFDBCI	.	.	.	-1.36144194046354	0.03008	0.1336992	-1.39594126067847	0.03295	0.1534162	0.00209449974586222	0.09151	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.714379	0.83352	0	.	.	2.5	-1.24	0.08948	-0.496000	0.06517	.	.	-1.187000	0.01379	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.6266:0.0:0.3734:0.0	6.697	0.22396	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	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.007576	0.02632	2056.33	36	chr19	12076205	.	G	A	2056.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=1134;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=0.969;SOR=0.744	GT:AD:DP:GQ:PL	0/1:70,72:142:99:2070,0,2034	18	0	1	0
chr19	12431796	12431796	C	A	exonic	ZNF443	.	nonsynonymous SNV	ZNF443:NM_005815:exon4:c.G376T:p.A126S	.	426	1095	1	0	0	1	0.000456413	.	.	.	2327038	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.006	0.00157028056619	0.0002	.	5.768e-05	0	0	0	0	8.993e-05	0	6.06e-05	4.53e-05	7	154602	rs373097363	3.352e-05	3.352e-05	2.995e-05	3.713e-05	0.0005	2.566e-05	2.312e-05	0.0001	7.541e-05	0	4.472e-05	0	0	0	0.0005	2.608e-05	0.0001	8.116e-05	5.913e-05	5.91e-05	6.423e-05	5.38e-05	0.0001	3.077e-05	2.21e-05	4.764e-05	3.339e-05	0	0	6.547e-05	0	0	0	0	0.0001	0.0005	0	0.265	0.16305	T	0.322	0.19016	T	0.047	0.21998	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	-1.075	0.01037	N	3.25	0.06762	T	0.62	0.02442	N	0.094	0.07398	-0.9379	0.42947	T	0.011	0.04088	T	9	0.03735602	0.02085	T	0.00157	0.02497	T	0.006	0.00375	.	.	0.16115917748	0.15686	0.00879243368689179	0.00843	0.0326038258851	0.03409	0.213184565306	0.00954	T	1.76E-4	0.00028	T	-0.519484	0.00443	T	-0.768644	0.02813	T	0.0251126451530099	0.01287	T	0.00127821	0.00002	T	0.040836554	0.05902	0.052884243	0.08800	0.040836554	0.05902	0.052884243	0.08800	-3.457	0.15835	T	.	.	0.082	0.08609	B	.	.	-0.130704	0.03462	0.642	0.48497507733948741	0.04052	0.01076	0.03978	N	AEFBI	0.021771	0.01009	N	-1.36182066330897	0.03004	0.1335221	-1.42929913279022	0.02963	0.1373141	2.3229750959342E-4	0.06095	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.37	0.26	0.14844	-1.552000	0.02280	.	.	0.286000	0.18717	0.000000	0.06391	0.000000	0.08366	0.582000	0.30943	0.0:0.2287:0.0:0.7713	4.443	0.11007	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	5983.83	34	chr19	12431796	.	C	A	5983.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.665;DP=3548;ExcessHet=0.119;FS=2.452;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.88;MQRankSum=1.06;QD=12.7;ReadPosRankSum=1.3;SOR=0.813	GT:AD:DP:GQ:PL	0/1:141,103:244:99:2735,0,3927	17	0	2	0
chr19	12881105	12881105	G	C	exonic	DNASE2	.	nonsynonymous SNV	DNASE2:NM_001375:exon2:c.C134G:p.A45G	.	409	1105	8	0	0	8	0.00360685	.	.	.	1158405	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.017	0.0127536983497	0.0060	0.00199681	0.0050	0.0019	0.0037	0	0.0003	0.0073	0.0034	0.0028	0.0052393	810	154602	rs112348773	0.0076	0.0076	0.0077	0.0075	0.0116	0.0075	0.0074	0.0094	0.0087	0.0012	0.0052	0.0062	2.519e-05	0.0010	0.0116	0.0089	0.0073	0.0024	0.0051	0.0051	0.0057	0.0046	0.0087	0.0048	0.0047	0.0081	0.0079	0.0015	0	0.0046	0.0052	0.0002	0.0005	0.0102	0.0087	0.0062	0.0033	0.372	0.11478	T	0.521	0.10714	T	0.026	0.19406	B	0.063	0.27082	B	0.495557	0.05061	N	1.366640	1	0.08975	N	0.35	0.11930	N	2.51	0.17596	T	-0.9	0.24244	N	0.129	0.12341	-1.0013	0.29545	T	0.015	0.06282	T	10	0.0043547153	0.00088	T	0.012754	0.31594	T	0.017	0.02790	.	.	0.148003135375	0.14442	0.2683441953285732	0.26747	0.560273300196	0.52559	0.304706543684	0.11106	T	0.07564	0.35226	T	-0.654668	0.00068	T	-0.70213	0.05711	T	0.00470155657053513	0.00050	T	0.464953	0.13651	T	0.03689833	0.04628	0.036251202	0.03036	0.03689833	0.04628	0.036251202	0.03036	-3.775	0.20432	T	.	.	0.090	0.15070	B	.;.	.;.	0.762654	0.11325	7.945	0.61141236624801887	0.06635	0.08445	0.14373	N	AEFDGBCIJ	0.088819	0.18006	N	-1.22303293139151	0.04668	0.2111439	-1.28691288597175	0.04607	0.2176825	0.999982893370361	0.51787	0.627647	0.40530	0	0.52208	0.09955	0	0.52208	0.10781	0	0.657601	0.63696	0	.	.	5.12	-1.36	0.08610	-0.046000	0.11937	.	.	-1.707000	0.00749	0.000000	0.06391	0.004000	0.18990	0.001000	0.02609	0.2546:0.0:0.3464:0.3989	3.613	0.07612	587	0.69154	.;.	.	.	.	.	.	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	1	0	0.006546	0.005051	0.012228	0.000000	0.000000	0.000000	0.012195	0.003788	0.05263	2163.83	33	chr19	12881105	.	G	C	2163.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.19;DP=765;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.955;SOR=0.699	GT:AD:DP:GQ:PL	0/1:62,43:105:99:1121,0,1518	17	0	2	0
chr19	13918787	13918787	C	T	exonic	CC2D1A	.	nonsynonymous SNV	CC2D1A:NM_017721:exon9:c.C988T:p.P330S	Mental retardation, autosomal recessive 3, Autosomal recessive	2	1519	1	0	0	1	0.000329056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00666876751023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.738e-06	2.736e-06	2.724e-06	2.751e-06	0.0002	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0.0002	8.995e-07	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468	0.08534	T	0.123	0.35710	T	0.22	0.31978	B	0.05	0.42046	B	0.063433	0.22025	N	0.473301	0.712071	0.30004	N	1.055	0.26876	L	1.41	0.33412	T	-0.85	0.23156	N	0.131	0.12627	-1.0086	0.27354	T	0.075	0.30335	T	10	0.037148535	0.02052	T	0.006669	0.17614	T	0.018	0.03083	0.247	0.18293	0.313518423057	0.30959	0.15715335145803444	0.15636	0.219639232792	0.24509	0.342034518719	0.16743	T	0.049388	0.28293	T	-0.238441	0.15547	T	-0.58028	0.14520	T	0.150620773434639	0.17153	T	0.670133	0.27879	T	0.020727854	0.00642	0.024034766	0.00418	0.020727854	0.00641	0.024034766	0.00418	-3.949	0.23038	T	.	.	0.068	0.03479	B	.;.	.;.	-0.056920	0.03906	0.859	0.30372808835735376	0.01658	0.30505	0.24099	N	AEFBI	0.100221	0.20157	N	-0.701742848799516	0.15972	0.8097316	-0.752851522459329	0.15652	0.8242762	9.87655111692007E-4	0.08091	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	4.83	2.67	0.30756	0.051000	0.14025	0.006000	0.13366	0.596000	0.33519	0.002000	0.15269	0.000000	0.08366	0.007000	0.07825	0.0:0.7135:0.1865:0.1	6.338	0.20515	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	.	.	.	.	.	.	.	.	0.02632	1269.33	35	chr19	13918787	.	C	T	1269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.34;DP=752;ExcessHet=0;FS=0.944;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.88;ReadPosRankSum=-0.474;SOR=0.886	GT:AD:DP:GQ:PL	0/1:32,39:71:99:1283,0,796	18	0	1	0
chr19	15428242	15428242	G	C	exonic	WIZ	.	nonsynonymous SNV	WIZ:NM_001371603:exon4:c.C1213G:p.P405A,WIZ:NM_001371589:exon8:c.C3682G:p.P1228A	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.0912113163174	.	.	.	.	.	.	.	.	.	.	.	.	.	rs915328993	5.149e-05	4.857e-05	4.293e-05	6.028e-05	0.0002	4.162e-05	3.821e-05	4.105e-05	3.689e-05	0	0	0	0	0	0.0002	5.199e-05	0.0001	7.609e-05	7.229e-05	7.223e-05	7.71e-05	6.724e-05	0.0001	3.972e-05	3.128e-05	7.911e-05	5.996e-05	2.413e-05	0	0	0	0	0	0	0.0001	0	0	0.073	0.34800	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	0.05	0.06369	N	0.295	0.33360	-1.0229	0.22769	T	0.035	0.15160	T	5	0.21416703	0.37930	T	0.091211	0.75663	D	0.328	0.65026	0.252	0.19067	0.220282294035	0.21616	.	.	.	.	.	.	.	0.002465	0.01855	T	-0.206123	0.19927	T	-0.400696	0.33304	T	0.076228805806177	0.09498	T	0.615039	0.23503	T	.	.	.	.	.	.	.	.	-5.089	0.37791	T	.	.	0.056	0.00533	B	.;.	.;.	3.379099	0.46730	22.3	0.96813185003349811	0.31195	0.98584	0.84372	D	AEFDGBCI	0.751521	0.69230	D	0.146795281406208	0.48660	3.075594	0.227026901639188	0.51353	3.318513	0.117231486935047	0.16796	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	5.11	4.07	0.46726	2.055000	0.40971	.	.	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1727:0.0:0.8273:0.0	8.941	0.34891	654	0.62520	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	602.33	32	chr19	15428242	.	G	C	602.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.085;DP=701;ExcessHet=0;FS=14.026;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-1.251;SOR=1.022	GT:AD:DP:GQ:PL	0/1:20,24:44:99:616,0,506	18	0	1	0
chr19	15469409	15469409	G	A	exonic	PGLYRP2	.	stopgain	PGLYRP2:NM_001363546:exon4:c.C1864T:p.Q622X	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.247e-05	0	0	0	0	0.0002	0	0	2.59e-05	4	154602	rs375779148	0.0005	0.0003	0.0005	0.0005	0.0015	0.0005	0.0005	0.0012	0.0010	0	2.885e-05	4.955e-05	0.0015	0.0044	0.0002	0.0002	0.0005	0.0002	0.0007	0.0007	0.0003	0.0011	0.0015	0.0006	0.0005	0.0008	0.0006	0	0	0	0.0006	0.0015	0.0063	0	0.0003	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000004	0.00162	U	21.833900	0.999673	0.20721	N	.	.	.	.	.	.	.	.	.	0.021	0.00339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.698043	0.00037	T	-0.821019	0.01432	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	-0.258638	0.02805	0.385	0.77402010657547948	0.11861	0.04596	0.10250	N	AEFDGBCI	0.023350	0.01289	N	-1.08789824901385	0.06865	0.3172597	-1.26944172433007	0.04850	0.2297475	0.995763815810771	0.34312	0.437478	0.07067	0	0.541556	0.11502	0	0.608004	0.38603	0	0.603991	0.37454	0	.	.	4.44	-2.45	0.06107	-1.121000	0.03381	.	.	-1.278000	0.01271	0.000000	0.06391	0.002000	0.18203	0.003000	0.05239	0.2932:0.2971:0.4096:0.0	4.548	0.11488	555	0.71762	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1719.33	33	chr19	15469409	.	G	A	1719.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.282;DP=775;ExcessHet=0;FS=2.049;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.15;SOR=0.87	GT:AD:DP:GQ:PL	0/1:79,70:149:99:1733,0,2302	18	0	1	0
chr19	15949402	15949402	G	A	exonic	OR10H4	.	nonsynonymous SNV	OR10H4:NM_001004465:exon1:c.G395A:p.R132H	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.000691225690652	.	0.000998403	0.0002	9.61e-05	8.649e-05	0.0012	0.0002	0.0001	0.0022	6.056e-05	0.0001876	29	154602	rs191127043	0.0004	0.0004	0.0004	0.0004	0.0084	0.0004	0.0003	0.0077	0.0074	8.961e-05	8.945e-05	0.0002	0.0084	5.616e-05	0	0.0002	0.0004	5.797e-05	0.0003	0.0003	0.0003	0.0003	0.0043	0.0002	0.0002	0.0029	0.0024	0.0002	0	6.536e-05	0.0003	0.0043	0	0	0.0002	0	0	0.338	0.12796	T	0.18	0.29442	T	0.006	0.13644	B	0.003	0.08700	B	0.092583	0.20266	N	0.353956	0.987481	0.24512	N	1.13	0.28900	L	4.75	0.01589	T	-2.11	0.48020	N	0.026	0.00527	-0.9316	0.43903	T	0.004	0.01261	T	10	0.025756657	0.00760	T	6.91E-4	0.00418	T	0.042	0.11227	.	.	0.149567049428	0.14543	0.1523367806731133	0.15155	0.0414429609065	0.04451	0.232329845428	0.02145	T	0.001515	0.00960	T	-0.666976	0.00057	T	-0.781282	0.02415	T	0.0086411121345403	0.00106	T	0.468753	0.13831	T	0.03390525	0.03701	0.031926014	0.01852	0.03390525	0.03701	0.031926014	0.01852	-2.013	0.03230	T	.	.	0.078	0.06990	B	.;.	.;.	0.151001	0.05432	1.905	0.85158142459727892	0.15720	0.02387	0.06776	N	AEFGBI	0.043119	0.06776	N	-1.70420153903556	0.00827	0.03575836	-1.77847013272263	0.00830	0.03709396	1.97823773481889E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-3.06	0.05053	-2.679000	0.00910	.	.	-2.880000	0.00166	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4285:0.0:0.5715:0.0	7.686	0.27708	976	0.04745	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	.	.	.	.	.	.	.	.	0.02632	4802.33	409	chr19	15949402	.	G	A	4802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.72;DP=2661;ExcessHet=0;FS=1.905;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=0.028;SOR=0.829	GT:AD:DP:GQ:PL	0/1:137,169:306:99:4816,0,3368	18	0	1	0
chr19	16325527	16325529	CGG	-	exonic	KLF2	.	nonframeshift deletion	KLF2:NM_016270:exon2:c.387_389del:p.G133del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0073	.	0	.	.	0	.	0	0	0	3.84e-05	1	26028	rs772362936	0.0003	0.0022	0.0002	0.0003	0.0020	0.0002	0.0002	0.0016	0.0015	4.592e-05	0.0004	0.0002	0.0001	0.0008	0	0.0002	0.0003	0.0020	0	1.982e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	34.3	17	chr19	16325526	.	ACGG	A	34.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.802;DP=448;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.45;ReadPosRankSum=0.917;SOR=0.269	GT:AD:DP:GQ:PL	0/1:12,2:14:48:48,0,489	18	0	1	0
chr19	17286678	17286692	GTGTGTGTGTGTGTT	0	exonic	ANKLE1	.	.	.	.	559	741	214	4	4	226	0.130282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1540.03	55	chr19	17286678	.	GTGTGTGTGTGTGTT	*	1540.03	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.865;DP=1094;ExcessHet=0;FS=9.216;InbreedingCoeff=0.6365;MLEAC=1;MLEAF=0.026;MQ=59.86;MQRankSum=0;QD=13.63;ReadPosRankSum=2.23;SOR=0.314	GT:AD:DP:GQ:PL	1/0:1,11:43:99:1678,1015,932	18	0	1	0
chr19	17286684	17286684	G	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	3189.55	43	chr19	17286684	.	G	*	3189.55	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-0.282;DP=1136;ExcessHet=0.1504;FS=14.022;InbreedingCoeff=0.1335;MLEAC=2;MLEAF=0.056;MQ=59.99;MQRankSum=0;QD=12.46;ReadPosRankSum=1.48;SOR=0.259	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,31:43:23:.:.:1327,0,23:.	16	0	2	1
chr19	17286686	17286692	GTGTGTT	0	exonic	ANKLE1	.	.	.	.	513	567	132	0	310	442	0.104265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2249.6	43	chr19	17286686	.	GTGTGTT	*	2249.6	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.022;DP=1133;ExcessHet=5.3738;FS=12.865;InbreedingCoeff=-0.3091;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=5.74;ReadPosRankSum=0.657;SOR=0.273	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,31:43:23:.:.:1327,0,23:.	17	0	2	0
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	3880.44	40	chr19	17286688	.	GTGTT	*	3880.44	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.372;DP=1140;ExcessHet=2.8292;FS=10.141;InbreedingCoeff=-0.1312;MLEAC=4;MLEAF=0.105;MQ=59.99;MQRankSum=0;QD=7.89;ReadPosRankSum=1.3;SOR=0.297	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,31:43:23:.:.:1327,0,23:.	15	0	4	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1637.94	40	chr19	17286690	.	GTT	*	1637.94	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.46;DP=1151;ExcessHet=0.463;FS=1.245;InbreedingCoeff=0.1559;MLEAC=14;MLEAF=0.368;MQ=59.99;MQRankSum=0;QD=3.04;ReadPosRankSum=1.16;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,31:43:23:.:.:1327,0,23:.	7	2	10	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	2986.13	40	chr19	17286692	.	T	*	2986.13	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0;DP=1155;ExcessHet=0.5777;FS=0;InbreedingCoeff=0.0134;MLEAC=21;MLEAF=0.583;MQ=59.97;MQRankSum=0;QD=4.33;ReadPosRankSum=1.35;SOR=0.666	GT:AD:DP:GQ:PL	1/1:0,42:42:99:2290,159,0	4	6	8	1
chr19	19626983	19626983	A	G	exonic	LPAR2	.	nonsynonymous SNV	LPAR2:NM_004720:exon2:c.T302C:p.L101P	.	389	1132	1	0	0	1	0.000441501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.0356857731991	.	.	1.901e-05	0	0	0	0	3.435e-05	0	0	1.29e-05	2	154602	rs757813231	4.791e-06	4.788e-06	6.81e-06	2.752e-06	0.0002	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.497e-06	1.657e-05	0	6.568e-06	6.566e-06	0	1.344e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.306	0.14207	T	0.195	0.28032	T	0.88	0.48402	P	0.603	0.50895	P	0.557804	0.11368	N	0.801080	0.999999	0.08975	N	0.17	0.09006	N	-0.59	0.71543	T	3.37	0.00098	N	0.355	0.41459	-0.8312	0.53224	T	0.252	0.62235	T	10	0.3744141	0.53722	T	0.035686	0.56507	D	0.401	0.71479	0.647	0.78436	0.716877464289	0.71439	0.9019687566625986	0.90168	0.788677996729	0.65652	0.42830941081	0.28977	T	0.062015	0.31806	T	-0.0576059	0.43280	T	-0.250685	0.49750	T	0.922090947628021	0.58207	D	0.412859	0.10744	T	0.2520849	0.48222	0.19738744	0.43518	0.2520849	0.48222	0.19738744	0.43517	-2.424	0.05282	T	.	.	0.145	0.32589	B	.;.;.	.;.;.	3.323908	0.45731	22.2	0.98645925844790483	0.44123	0.17641	0.19924	N	AEFBHCI	0.282665	0.39595	N	-0.234993147165965	0.31706	1.780576	-0.30251144782145	0.28017	1.558913	0.999986780405361	0.51787	0.741868	0.97996	0	0.685571	0.66316	0	0.774882	0.98623	0	0.604944	0.38103	0	.	.	4.44	4.44	0.53164	2.536000	0.45351	.	.	0.756000	0.94297	0.010000	0.18352	0.997000	0.33255	0.708000	0.34389	1.0:0.0:0.0:0.0	11.685	0.50744	437	0.80299	GPCR, rhodopsin-like, 7TM;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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1012.33	36	chr19	19626983	.	A	G	1012.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.186;DP=750;ExcessHet=0;FS=8.964;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.578;SOR=1.301	GT:AD:DP:GQ:PL	0/1:50,36:86:99:1026,0,1381	18	0	1	0
chr19	19892677	19892677	G	A	exonic	ZNF253	.	nonsynonymous SNV	ZNF253:NM_001331134:exon2:c.G1202A:p.R401Q,ZNF253:NM_001331133:exon3:c.G1238A:p.R413Q,ZNF253:NM_021047:exon4:c.G1430A:p.R477Q	.	412	1098	12	0	0	12	0.00543478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00173209447927	0.0017	0.00139776	0.0028	0.0006	0.0031	0	0.0032	0.0036	0.0034	0.0017	0.0026196	405	154602	rs200823374	0.0024	0.0024	0.0024	0.0024	0.0083	0.0023	0.0023	0.0065	0.0058	0.0005	0.0031	0.0052	5.042e-05	0.0028	0.0083	0.0024	0.0029	0.0018	0.0022	0.0022	0.0021	0.0022	0.0028	0.0020	0.0019	0.0024	0.0023	0.0005	0.0253	0.0028	0.0052	0.0002	0.0025	0.0034	0.0028	0.0009	0.0019	.	.	.	0.05	0.48080	T	0.022	0.18677	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.145	0.08828	N	3.4	0.07236	T	.	.	.	0.081	0.07535	-1.0112	0.26541	T	0.034	0.14596	T	7	0.0067026615	0.00152	T	0.001732	0.02908	T	0.041	0.10877	.	.	0.0920862733494	0.08535	0.014906593965152617	0.01447	0.121094567029	0.13643	0.23867842555	0.02673	T	0.013433	0.11621	T	-0.646725	0.00076	T	-0.704174	0.05601	T	0.0192100666566046	0.00628	T	0.394461	0.14745	T	0.021767601	0.00797	0.034241162	0.02456	0.021767601	0.00797	0.034241162	0.02456	-3.009	0.10278	T	.	.	0.078	0.13315	B	.;.;.	.;.;.	0.925850	0.13010	9.514	0.97115585891295408	0.32430	0.00007	0.00120	N	AEFBHCI	0.012134	0.00125	N	-1.11509334132243	0.06374	0.2932382	-1.14819409560881	0.06801	0.3285793	0.0017668373506316	0.08861	0.67177	0.52595	0	0.633656	0.55848	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	0.859	-0.423	0.11710	0.354000	0.19885	.	.	-2.866000	0.00169	0.003000	0.16062	.	.	0.000000	0.00833	0.4685:0.0:0.5315:0.0	2.663	0.04725	940	0.13648	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	0.006915	0.010101	0.009537	0.000000	0.000000	0.000000	0.012500	0.003788	0.02632	1670.33	33	chr19	19892677	.	G	A	1670.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.284;DP=942;ExcessHet=0;FS=3.318;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=1.28;SOR=1.061	GT:AD:DP:GQ:PL	0/1:61,66:127:99:1684,0,1526	18	0	1	0
chr19	21383393	21383393	G	0	exonic	ZNF738	.	.	.	.	617	630	79	26	170	301	0.0941769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	6047.41	76	chr19	21383393	.	G	*	6047.41	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.652;DP=1171;ExcessHet=0.6984;FS=2.485;InbreedingCoeff=0.0952;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=8.14;ReadPosRankSum=1.4;SOR=0.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,43:103:99:.:.:1624,0,2332:.	13	1	5	0
chr19	22392620	22392622	ACT	-	exonic	ZNF98	.	nonframeshift deletion	ZNF98:NM_001098626:exon4:c.613_615del:p.S205del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2394.29	37	chr19	22392619	.	CACT	C	2394.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.72;DP=800;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.94;MQRankSum=7.27;QD=19.31;ReadPosRankSum=-0.189;SOR=0.632	GT:AD:DP:GQ:PL	0/1:62,62:124:99:2408,0,2388	18	0	1	0
chr19	22392634	22392634	T	A	exonic	ZNF98	.	stopgain	ZNF98:NM_001098626:exon4:c.A601T:p.K201X	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0007	6.5e-06	1	154602	rs758446016	0.0001	0.0001	7.744e-05	0.0001	0.0018	8.664e-05	8.124e-05	0.0010	0.0007	0	0.0002	0	0	0	0.0018	8.1e-05	0.0002	0.0003	9.196e-05	9.192e-05	7.707e-05	0.0001	0.0004	5.526e-05	4.363e-05	7.908e-05	5.994e-05	2.412e-05	0	6.543e-05	0	0	0	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.024	0.00445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.432546	0.01431	T	-0.544841	0.17823	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	4.058586	0.60212	24.2	0.84231976572819667	0.15172	0.00469	0.02250	N	AEFBI	0.029114	0.02689	N	-0.827353495988023	0.12613	0.6159607	-1.263938616502	0.04927	0.233621	2.49645877276623E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.28	-2.56	0.05903	-1.169000	0.03230	.	.	-0.645000	0.04412	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1641:0.2255:0.2637:0.3467	0.565	0.00641	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0.001601	0.000000	0.001374	0.000000	0.000000	0.000000	0.006135	0.003788	0.02632	1744.33	37	chr19	22392634	.	T	A	1744.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.517;DP=805;ExcessHet=0;FS=0.664;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.65;MQRankSum=-7.077;QD=13.84;ReadPosRankSum=-2.048;SOR=0.804	GT:AD:DP:GQ:PL	0/1:59,67:126:99:1758,0,2270	18	0	1	0
chr19	35371380	35371380	G	C	exonic	GPR42	.	nonsynonymous SNV	GPR42:NM_001348195:exon2:c.G21C:p.Q7H	.	.	.	.	.	.	.	.	.	.	.	2808516	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.092	0.0268005195375	.	0.00119808	0.0021	0	0.0008	0	0.0012	0.0034	0	0.0010	0.0006921	107	154602	rs200980961	0.0015	0.0022	0.0015	0.0015	0.0030	0.0014	0.0014	0.0017	0.0017	0.0004	0.0018	6.187e-05	0	0.0002	0.0030	0.0018	0.0015	0.0005	0.0022	0.0042	0.0021	0.0024	0.0060	0.0019	0.0018	0.0043	0.0037	0.0023	0	0.0060	0.0012	0	0	0	0.0017	0.0090	0.0022	0.362	0.11844	T	0.159	0.31527	T	0.0	0.02946	B	0.0	0.01387	B	0.109206	0.02622	N	2.939750	1	0.08975	N	.	.	.	-0.15	0.65192	T	-0.8	0.22078	N	0.048	0.01999	-1.0258	0.21821	T	0.131	0.44168	T	9	0.006624341	0.00150	T	0.026801	0.49675	D	0.092	0.26621	0.153	0.05648	0.179529687257	0.17594	0.12067428052473039	0.11994	.	.	0.307459324598	0.11523	T	0.002165	0.01566	T	-0.443872	0.01227	T	-0.670817	0.07556	T	0.00657982219828658	0.00074	T	0.155484	0.01357	T	0.041731987	0.06202	0.031775035	0.01813	0.041731987	0.06201	0.031775035	0.01813	-3.577	0.17525	T	.	.	0.086	0.10883	B	.;.	.;.	-0.140197	0.03408	0.618	0.79913798765203203	0.12958	0.04051	0.09496	N	AEFDGI	0.056654	0.10490	N	-0.956278192076679	0.09552	0.4525973	-1.04844359162733	0.08739	0.431174	3.658614411302E-4	0.06707	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.76	0.487	0.16050	-0.553000	0.06104	-0.399000	0.09423	-0.303000	0.06174	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1621:0.2727:0.5652:0.0	3.485	0.07179	917	0.20147	.;.	.	.	.	.	.	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	1	0	.	.	.	.	.	.	.	.	0.02778	1401.3	40	chr19	35371380	.	G	C	1401.3	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.406;DP=572;ExcessHet=0;FS=4.268;InbreedingCoeff=-0.0548;MLEAC=1;MLEAF=0.028;MQ=48.71;MQRankSum=1.25;QD=13.1;ReadPosRankSum=0.037;SOR=0.344	GT:AD:DP:GQ:PL	0/1:53,54:107:99:1414,0,1562	17	0	1	1
chr19	35511468	35511468	A	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	903.11	81	chr19	35511468	.	A	*	903.11	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.624;DP=1036;ExcessHet=0.1204;FS=1.808;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=1.98;ReadPosRankSum=-1.292;SOR=0.842	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,22:64:99:.:.:807,0,1676:.	13	2	4	0
chr19	35511491	35511491	C	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	699.14	81	chr19	35511491	.	C	*	699.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.41;DP=1048;ExcessHet=0.1204;FS=1.128;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=0.413;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,22:64:99:.:.:807,0,1676:.	13	2	4	0
chr19	35622734	35622734	G	A	splicing	HAUS5	NM_015302:exon18:c.1784+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1395859860	3.421e-06	3.42e-06	4.084e-06	2.75e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	6.574e-06	6.566e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	9.42e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180666	0.72105	D	0.0217379	0.71743	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.227217	0.87742	29.3	0.99155487727823888	0.53931	0.74436	0.36414	D	AEFBI	.	.	.	0.881333261214309	0.90816	10.579	0.678351521302965	0.80740	7.366186	0.258861568032119	0.18766	0.184171	0.03992	0	0.221468	0.04790	0	0.068591	0.01938	0	0.109871	0.03346	0	0.824468	0.49294	4.73	4.73	0.59485	3.590000	0.53726	11.727000	0.94923	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.1006:0.0:0.8994:0.0	8.769	0.33879	856	0.34373	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1094.33	33	chr19	35622734	.	G	A	1094.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.713;DP=772;ExcessHet=0;FS=7.18;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-1.345;SOR=0.591	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1108,0,988	18	0	1	0
chr19	35720516	35720516	T	C	exonic	KMT2B	.	nonsynonymous SNV	KMT2B:NM_014727:exon3:c.T1169C:p.M390T	Dystonia 28, childhood-onset, Autosomal dominant	421	1076	25	0	0	25	0.0114837	.	.	.	1208549	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.000	.	0.0010	0.00479233	0.0087	0.0005	0	0	0.0015	0.0025	0.0092	0.0203	0.0017658	273	154602	rs191195577	0.0034	0.0033	0.0028	0.0041	0.0210	0.0033	0.0033	0.0202	0.0198	0.0005	0.0018	0.0034	2.798e-05	0.0004	0.0032	0.0025	0.0031	0.0210	0.0018	0.0018	0.0018	0.0019	0.0142	0.0017	0.0016	0.0115	0.0105	0.0005	0	0.0014	0.0012	0	0.0005	0.0034	0.0022	0.0038	0.0142	0.195	0.20759	T	0.463	0.12491	T	0.0	0.02946	B	0.0	0.01387	B	0.698985	0.06191	N	1.215830	1	0.08975	N	0.55	0.14455	N	2.25	0.17761	T	0.06	0.06253	N	0.043	0.01577	-0.9735	0.36453	T	0.012	0.04795	T	10	0.002669692	0.00041	T	.	.	.	0.000	0.00003	.	.	0.0675242888579	0.06100	0.1289655174123301	0.12821	.	.	0.339985907078	0.16436	T	0.028464	0.20614	T	-0.739682	0.00021	T	-0.819022	0.01472	T	0.00103793005777794	0.00010	T	0.265573	0.04334	T	0.03789585	0.04945	0.0910314	0.21379	0.03789585	0.04944	0.0910314	0.21379	-1.818	0.02563	T	0.11670112200966196	0.10578	0.143	0.31532	B	.	.	-1.126052	0.00610	0.016	0.42476038207020123	0.03134	0.03203	0.08199	N	AEFDBCI	0.025352	0.01723	N	-1.82998506622539	0.00476	0.02048146	-1.86884891316905	0.00563	0.02498569	0.999990691745033	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.14	-2.77	0.05529	-1.914000	0.01670	-1.222000	0.05984	-0.889000	0.02397	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.2008:0.3094:0.0:0.4898	3.905	0.08682	733	0.53988	.	.	.	.	.	.	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	1	0	0.012873	0.000000	0.015837	0.006897	0.000000	0.013158	0.014706	0.021053	0.05263	3781.83	39	chr19	35720516	.	T	C	3781.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.071;DP=965;ExcessHet=0.119;FS=1.475;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.078;SOR=0.594	GT:AD:DP:GQ:PL	0/1:78,75:153:99:1809,0,2212	17	0	2	0
chr19	35730375	35730375	C	T	exonic	KMT2B	.	nonsynonymous SNV	KMT2B:NM_014727:exon24:c.C5110T:p.R1704C	Dystonia 28, childhood-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.684197606757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000388	0.44960	D	0.000000	1	0.81001	D	3.42	0.91902	M	-3.35	0.94022	D	-7.25	0.94352	D	0.672	0.67995	0.908	0.95783	D	0.858	0.95261	D	10	0.9734191	0.97018	D	0.684198	0.97389	D	0.827	0.94503	0.871	0.96372	0.884567935396	0.88343	0.9899013836942634	0.98985	.	.	0.74240219593	0.73326	T	0.525371	0.83477	D	0.366651	0.87760	D	0.288892	0.87603	D	0.996147990226746	0.88754	D	0.970403	0.89360	D	0.16481382	0.36714	0.09741018	0.23185	0.16481382	0.36713	0.09741018	0.23184	-9.599	0.71474	D	0.5325443561608735	0.60322	0.992	0.94272	P	.	.	5.552621	0.92063	32	0.99886736346649896	0.96204	0.95873	0.66520	D	AEFBCI	0.694750	0.65364	D	0.641052478137679	0.75791	6.368774	0.634900630826446	0.77491	6.689532	0.999999996826165	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	4.111000	0.57577	7.659000	0.64126	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.620	0.87981	722	0.55239	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	380.33	35	chr19	35730375	.	C	T	380.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.02;DP=708;ExcessHet=0;FS=21.731;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.51;ReadPosRankSum=-0.39;SOR=4.351	GT:AD:DP:GQ:PL	0/1:49,20:69:99:394,0,1368	18	0	1	0
chr19	35861983	35861983	G	A	exonic	KIRREL2	.	nonsynonymous SNV	KIRREL2:NM_001329530:exon10:c.G1319A:p.R440Q,KIRREL2:NM_199179:exon10:c.G1319A:p.R440Q,KIRREL2:NM_001363667:exon11:c.G1469A:p.R490Q,KIRREL2:NM_032123:exon11:c.G1469A:p.R490Q,KIRREL2:NM_199180:exon11:c.G1469A:p.R490Q	.	431	1090	1	0	0	1	0.000458505	.	.	.	3991187	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.177	0.0245707602621	.	.	2.205e-05	0	0	0	0	3.877e-05	0	0	5.17e-05	8	154602	rs749694185	4.177e-05	4.309e-05	4.359e-05	3.993e-05	0.0009	3.314e-05	3.004e-05	0.0003	0.0002	0	0	0	7.564e-05	0	0.0009	4.139e-05	8.291e-05	2.33e-05	1.315e-05	1.313e-05	2.57e-05	0	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	0.202	0.26740	T	0.163	0.31125	T	.	.	.	.	.	.	0.000760	0.42006	D	0.000000	0.99668	0.81001	D	.	.	.	2.56	0.13673	T	-0.59	0.17624	N	0.474	0.56058	-1.1436	0.01229	T	0.061	0.25528	T	10	0.40359983	0.55738	T	0.024571	0.47557	T	0.177	0.44549	.	.	0.391930172978	0.38808	0.7768114398076484	0.77631	0.0719830884204	0.08067	0.476736009121	0.35607	T	.	.	.	-0.253285	0.13699	T	-0.375901	0.36202	T	0.624830961227417	0.37404	D	0.863414	0.69569	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26825	B	.;.;.;.	.;.;.;.	4.486287	0.70044	25.5	0.99941600867758196	0.99797	0.99419	0.95789	D	AEFDBI	0.915000	0.87917	D	0.518652865854407	0.68193	5.183643	0.505894956099974	0.68387	5.21293	0.999999743931422	0.74766	0.635344	0.42169	0	0.563428	0.19063	0	0.654045	0.52621	0	0.530356	0.10902	0	.	.	4.95	4.95	0.64894	8.418000	0.90123	9.957000	0.82769	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.191000	0.21631	0.0:0.0:1.0:0.0	13.686	0.61996	851	0.35303	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin-like 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	.	.	.	.	.	.	.	.	0.02632	1328.33	35	chr19	35861983	.	G	A	1328.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.339;DP=755;ExcessHet=0;FS=1.609;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.287;SOR=0.531	GT:AD:DP:GQ:PL	0/1:47,53:100:99:1342,0,1134	18	0	1	0
chr19	36151678	36151680	CTT	-	exonic	COX7A1	.	nonframeshift deletion	COX7A1:NM_001864:exon2:c.91_93del:p.K31del	.	430	1051	40	1	0	42	0.0195896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027	0.00399361	0.0036	0.0002	0.0002	0	0	0.0015	0.0076	0.0135	0.0001921	5	26028	rs530285319	0.0026	0.0023	0.0021	0.0031	0.0150	0.0026	0.0025	0.0143	0.0140	0.0002	0.0004	0.0011	7.576e-05	0.0013	0.0106	0.0017	0.0036	0.0150	0.0017	0.0017	0.0015	0.0019	0.0200	0.0015	0.0014	0.0165	0.0152	0.0005	0	0.0004	0.0003	0.0003	0.0006	0.0045	0.0017	0.0016	0.0200	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	343.29	61	chr19	36151677	.	GCTT	G	343.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.239;DP=809;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-1.416;SOR=0.61	GT:AD:DP:GQ:PL	0/1:21,10:31:99:357,0,840	18	0	1	0
chr19	38740200	38740200	C	A	exonic	CAPN12	.	nonsynonymous SNV	CAPN12:NM_144691:exon5:c.G580T:p.V194L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.480	0.151198528292	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.431e-06	4.104e-06	5.459e-06	1.38e-06	4.505e-06	1.01e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.83351	D	0.911	0.50336	P	0.492	0.47401	P	0.003640	0.34687	N	0.274601	0.924288	0.36771	D	0.92	0.23413	L	-2.23	0.87116	D	-1.32	0.32991	N	0.398	0.46274	0.093	0.84051	D	0.522	0.82153	D	10	0.6613567	0.70172	D	0.151199	0.83279	D	0.480	0.77077	0.726	0.86024	0.702229483744	0.69964	0.3294003350713022	0.32853	0.0689465900932	0.07720	0.643887162209	0.59117	T	0.090718	0.38644	T	0.0117579	0.53264	T	-0.220887	0.52652	T	0.742105960845947	0.42850	D	0.909209	0.67884	D	0.44839454	0.63940	0.39157018	0.63924	0.44839454	0.63940	0.39157018	0.63924	-6.501	0.50294	T	.	.	0.411	0.60193	A	.;.	.;.	3.378500	0.46720	22.3	0.99493011058124592	0.67573	0.95190	0.63770	D	AEFDBI	0.671395	0.63816	D	0.172735840748112	0.49893	3.184757	0.167057127751754	0.48051	3.026519	0.999999928756868	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.62	3.58	0.40133	2.014000	0.40571	1.326000	0.25636	0.512000	0.23348	1.000000	0.71638	0.800000	0.26941	0.763000	0.36255	0.0:0.9015:0.0:0.0985	10.314	0.42907	675	0.60470	Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic 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	.	.	.	.	.	.	.	.	0.02632	673.33	34	chr19	38740200	.	C	A	673.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-0.476;SOR=0.68	GT:AD:DP:GQ:PL	0/1:27,29:56:99:687,0,619	18	0	1	0
chr19	39515727	39515727	C	T	exonic	SELENOV	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00614246297568	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1161209830	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	6.544e-05	0	0	.	.	0	0	6.544e-05	0	0	0	0	0	0	0	0.138	0.27080	T	0.885	0.04358	T	0.913	0.50474	P	0.125	0.32635	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	0.92	0.44461	T	-0.57	0.21644	N	0.126	0.11912	-1.0464	0.15418	T	0.046	0.19800	T	9	0.0797109	0.12853	T	0.006142	0.16082	T	0.019	0.03383	0.251	0.18912	0.0401082797425	0.02173	.	.	0.651761740419	0.58396	0.392920196056	0.24081	T	0.013943	0.11965	T	-0.28833	0.09805	T	-0.651942	0.08819	T	0.322167806840119	0.25910	T	0.524448	0.17180	T	0.049380515	0.08760	0.07279912	0.15747	0.049380515	0.08759	0.07279912	0.15747	.	.	.	.	.	0.109	0.27343	B	.;.;.	.;.;.	2.029558	0.25795	16.89	0.99662240044346206	0.78011	0.02162	0.06348	N	AEFDBCI	0.030069	0.02958	N	-0.816984327039144	0.12877	0.630536	-0.993898483888671	0.09922	0.4965017	0.999990921887465	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.519653	0.09787	0	0.63947	0.58350	0	.	.	2.79	-0.917	0.09952	-0.046000	0.11937	.	.	0.440000	0.21072	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4245:0.4387:0.1368	4.798	0.12647	814	0.42100	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	95.33	34	chr19	39515727	.	C	T	95.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.665;DP=725;ExcessHet=0;FS=48.083;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.07;ReadPosRankSum=0.501;SOR=5.783	GT:AD:DP:GQ:PL	0/1:72,17:89:99:109,0,1744	18	0	1	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	853.21	33	chr19	40667990	.	CTGT	*	853.21	.	AC=24;AF=0.632;AN=38;DP=856;ExcessHet=5.6906;FS=0.635;InbreedingCoeff=-0.2859;MLEAC=24;MLEAF=0.632;MQ=60;QD=1.1;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,37:41:46:0|1:40667975_C_T:1464,0,46:40667975	1	6	12	0
chr19	40667993	40668002	TTGCTGTTGC	0	exonic	NUMBL	.	.	.	.	438	226	37	0	821	858	0.0756646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	78.42	33	chr19	40667993	.	TTGCTGTTGC	*	78.42	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.002;DP=861;ExcessHet=1.8686;FS=0.664;InbreedingCoeff=-0.0857;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=0.1;ReadPosRankSum=0.057;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,37:41:43:1|0:40667975_C_T:1908,175,43:40667975	1	7	11	0
chr19	41861210	41861210	C	T	exonic	RPS19	.	nonsynonymous SNV	RPS19:NM_001022:exon3:c.C170T:p.A57V,RPS19:NM_001321483:exon3:c.C170T:p.A57V,RPS19:NM_001321484:exon3:c.C170T:p.A57V,RPS19:NM_001321485:exon3:c.C170T:p.A57V	Diamond-Blackfan anemia 1, Autosomal dominant	0	1521	1	0	0	1	0.000328623	0.9993	0.872	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407	0.102418532371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.72224	T	0.083	0.24734	B	0.046	0.24676	B	0.000000	0.84330	D	0.053069	1	0.81001	D	2.095	0.58118	M	-5.19	0.98838	D	.	.	.	0.679	0.68603	-0.6992	0.60476	T	0.231	0.59694	T	9	0.8595521	0.85377	D	0.102419	0.77587	D	.	.	0.854	0.95434	0.832029236404	0.83043	0.7968253661793805	0.79635	0.90808302228	0.70929	0.778936505318	0.78766	T	0.923713	0.98654	D	0.293284	0.82422	D	0.183505	0.82196	D	0.888527810573578	0.53913	D	0.451055	0.69206	T	0.68457866	0.77216	0.4360754	0.67072	0.68457866	0.77218	0.4360754	0.67073	-10.687	0.77913	D	0.18865472079015352	0.24646	0.733	0.76709	P	.;.;.;.;.	.;.;.;.;.	5.936910	0.94118	33	0.99811852889624797	0.89531	0.91047	0.52756	D	AEFDGBHCI	0.917092	0.88422	D	0.102593280628831	0.46583	2.896494	0.21688406269694	0.50782	3.266852	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.672317	0.60874	0	0.56214	0.19341	0	.	.	4.57	4.57	0.55860	5.611000	0.67355	7.648000	0.63548	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:1.0:0.0:0.0	15.641	0.76759	758	0.50837	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	969.33	35	chr19	41861210	.	C	T	969.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.829;DP=806;ExcessHet=0;FS=3.909;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.328;SOR=0.951	GT:AD:DP:GQ:PL	0/1:55,40:95:99:983,0,1606	18	0	1	0
chr19	42095395	42095395	A	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.T1022C:p.I341T,POU2F2:NM_001207026:exon11:c.T1022C:p.I341T,POU2F2:NM_001247994:exon11:c.T974C:p.I325T,POU2F2:NM_002698:exon11:c.T974C:p.I325T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.931	0.491804921791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.997	0.77913	D	0.977	0.74454	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.825	0.47900	L	-4.25	0.97054	D	-4.24	0.76015	D	0.845	0.86297	1.045	0.98021	D	0.926	0.97544	D	10	0.92589384	0.91938	D	0.491805	0.95011	D	0.931	0.98378	0.762	0.89053	0.979705899228	0.97949	0.9814169942772814	0.98133	2.91012196725	0.99100	0.8950933218	0.95878	D	0.808246	0.99683	D	0.525352	0.95038	D	0.516856	0.94964	D	0.994730926619758	0.86208	D	0.952605	0.82322	D	0.7007408	0.78097	0.57755935	0.75522	0.7007408	0.78099	0.57755935	0.75523	-12.58	0.87561	D	.	.	0.997	0.97319	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.697003	0.75326	26.3	0.99835600142926961	0.91714	0.97930	0.78210	D	AEFBI	0.935600	0.93069	D	0.708200846287782	0.80171	7.235341	0.648994966838081	0.78535	6.895993	0.99999985343175	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	9.263000	0.94779	11.242000	0.90457	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	12.324	0.54323	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	194.16	35	chr19	42095395	.	A	G	194.16	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.584;DP=1387;ExcessHet=2.0135;FS=70.383;InbreedingCoeff=-0.1719;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=-0.429;SOR=9.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,15:95:97:.:.:97,0,2743:.	13	0	6	0
chr19	42095399	42095399	C	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.G1018C:p.V340L,POU2F2:NM_001207026:exon11:c.G1018C:p.V340L,POU2F2:NM_001247994:exon11:c.G970C:p.V324L,POU2F2:NM_002698:exon11:c.G970C:p.V324L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2188	1077.81	113	chr19	42095399	.	C	G	1077.81	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-3.952;DP=1644;ExcessHet=2.9153;FS=124.913;InbreedingCoeff=-0.2847;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.84;ReadPosRankSum=0.285;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,15:89:99:.:.:234,0,1525:.	9	0	7	3
chr19	43915003	43915003	A	G	exonic	ZNF45	.	nonsynonymous SNV	ZNF45:NM_003425:exon10:c.T433C:p.F145L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00769626429319	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1384583909	6.881e-07	1.368e-06	0	1.385e-06	2.274e-05	0	0	.	.	0	2.274e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.202	0.27414	T	0.0	0.02946	B	0.001	0.04355	B	0.263507	0.15267	N	0.483859	1	0.08975	N	2.275	0.64647	M	1.01	0.41058	T	-0.84	0.22944	N	0.164	0.18376	-0.9877	0.33175	T	0.090	0.34573	T	10	0.094732106	0.16866	T	0.007696	0.20431	T	0.038	0.09825	0.402	0.43245	0.235664433957	0.23186	0.12031759696109624	0.11958	0.213602836398	0.23874	0.334945380688	0.15680	T	0.035438	0.23719	T	-0.368212	0.03685	T	-0.683822	0.06753	T	0.0350863611179524	0.02822	T	0.0770923	0.09368	T	0.05302415	0.09975	0.03890542	0.03862	0.05302415	0.09975	0.03890542	0.03862	-3.275	0.13417	T	.	.	0.333	0.68334	B	.;.;.;.	.;.;.;.	0.469238	0.08386	5.142	0.45021709716704789	0.03503	0.08434	0.14363	N	AEFBI	0.031285	0.03311	N	-1.04982718632548	0.07591	0.3531383	-1.11553569626414	0.07403	0.3599641	0.00212158374293667	0.09174	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.68	1.35	0.21078	0.579000	0.23490	.	.	-0.659000	0.04360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5556:0.3441:0.1003:0.0	5.295	0.15059	861	0.33516	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	138.94	36	chr19	43915003	.	A	G	138.94	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.102;DP=1268;ExcessHet=0.119;FS=205.172;InbreedingCoeff=-0.0444;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=1.97;SOR=7.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:93,20:113:2:.:.:2,0,2248:.	17	0	2	0
chr19	44442846	44442846	A	G	exonic	ZNF229	.	startloss	ZNF229:NM_001278510:exon3:c.T2C:p.M1?,ZNF229:NM_014518:exon3:c.T2C:p.M1?	.	420	1082	19	1	0	21	0.00961098	.	.	.	2808879	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.187	0.00910938250367	8.3e-05	0.000599042	0.0014	0.0002	0.0003	0	0	0.0004	0.0033	0.0081	0.0011255	174	154602	rs199644935	0.0007	0.0007	0.0004	0.0010	0.0092	0.0007	0.0007	0.0087	0.0085	0	0.0002	3.826e-05	0	1.876e-05	0.0050	0.0001	0.0009	0.0092	0.0004	0.0004	0.0002	0.0006	0.0085	0.0003	0.0003	0.0064	0.0056	0.0001	0	0.0002	0	0	0	0.0041	0.0001	0.0005	0.0085	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.537	0.56489	-1.0276	0.21233	T	0.018	0.07376	T	8	0.007427484	0.00169	T	0.009109	0.23965	T	.	.	.	.	0.270001397563	0.26616	0.10640469330074703	0.10570	.	.	.	.	.	.	.	.	-0.21419	0.18794	T	-0.0734809	0.65376	T	0.011461238529386	0.00172	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.795269	0.22820	15.77	0.7881897504870653	0.12466	0.00222	0.01252	N	AEFBI	0.008562	0.00041	N	-0.837210483319705	0.12366	0.6023815	-0.936819549496422	0.11230	0.5708343	1.39687111254852E-4	0.05486	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.491896	0.07777	0	.	.	2.67	1.61	0.22752	1.917000	0.39626	.	.	0.587000	0.30956	0.805000	0.29786	0.372000	0.24573	0.179000	0.21265	0.8457:0.0:0.1543:0.0	4.735	0.12360	906	0.23090	.;.	.	.	.	.	.	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	0.004028	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.011364	0.05263	3059.83	71	chr19	44442846	.	A	G	3059.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.41;DP=914;ExcessHet=0.119;FS=4.792;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=1.66;SOR=0.964	GT:AD:DP:GQ:PL	0/1:80,63:143:99:1400,0,2150	17	0	2	0
chr19	44878491	44878491	T	G	exonic	NECTIN2	.	nonsynonymous SNV	NECTIN2:NM_002856:exon6:c.T1311G:p.D437E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.030349315098	.	.	1.071e-05	0	0	0	0	1.938e-05	0	0	3.84e-05	1	26028	rs750653920	4.796e-06	4.788e-06	4.09e-06	5.51e-06	1.162e-05	2e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.4e-06	0	1.162e-05	6.595e-06	6.574e-06	0	1.351e-05	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.814	0.03005	T	0.475	0.12072	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999975	0.53665	D	.	.	.	0.02	0.62318	T	-0.24	0.10833	N	0.126	0.11912	-0.9679	0.37632	T	0.041	0.17573	T	9	0.024623632	0.00684	T	0.030349	0.52677	D	0.062	0.17934	0.16	0.06396	0.204265027416	0.20035	.	.	.	.	.	.	.	.	.	.	-0.324968	0.06498	T	-0.67435	0.07333	T	0.0186735443703199	0.00580	T	0.193081	0.02071	T	.	.	.	.	.	.	.	.	-0.59	0.00641	T	.	.	0.061	0.01179	B	.	.	-0.665246	0.01403	0.082	0.29065761121918843	0.01523	0.02274	0.06564	N	AEFBHCI	0.040646	0.06074	N	-2.45953044927843	0.00020	0.0008552747	-2.35616705202297	0.00050	0.002182109	0.983808611985189	0.30617	0.706548	0.73137	0	0.588015	0.36545	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.77	-4.6	0.03148	-4.607000	0.00241	.	.	-3.558000	0.00076	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.2328:0.1001:0.4546:0.2125	2.302	0.03910	835	0.38313	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	748.33	33	chr19	44878491	.	T	G	748.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.775;DP=763;ExcessHet=0;FS=2.89;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=-0.249;SOR=0.446	GT:AD:DP:GQ:PL	0/1:58,32:90:99:762,0,1686	18	0	1	0
chr19	45067497	45067497	C	T	exonic	CLASRP	.	nonsynonymous SNV	CLASRP:NM_001278439:exon13:c.C1384T:p.R462C,CLASRP:NM_007056:exon14:c.C1570T:p.R524C	.	408	1112	2	0	0	2	0.000898473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00883590167705	.	.	5.803e-05	0	0.0004	0	0	0	0	0.0001	1.94e-05	3	154602	rs777059682	2.237e-05	2.395e-05	1.944e-05	2.533e-05	0.0001	1.619e-05	1.385e-05	5.545e-05	4.15e-05	6.102e-05	2.39e-05	0	0	0	0	1.725e-05	1.685e-05	0.0001	6.583e-06	6.573e-06	0	1.348e-05	2.419e-05	0	0	.	.	2.419e-05	0	0	0	0	0	0	0	0	0	0.005	0.72154	D	0.015	0.70582	D	0.0	0.02946	B	0.0	0.01387	B	0.004169	0.34034	U	0.000000	0.999904	0.50806	D	.	.	.	1.76	0.25996	T	-1.05	0.31170	N	0.135	0.20262	-1.0805	0.07252	T	0.029	0.12453	T	10	0.043747574	0.03258	T	0.008836	0.23318	T	0.033	0.08068	0.25	0.18757	0.043077524339	0.03247	0.34197553421492005	0.34110	0.987874947334	0.73974	0.385233700275	0.22995	T	0.025399	0.18998	T	-0.339395	0.05430	T	-0.538756	0.18419	T	0.282521843910217	0.24277	T	0.740726	0.35986	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.36633	B	.;.;.	.;.;.	3.628304	0.51387	23.1	0.9905755853423085	0.51413	0.30806	0.24177	N	AEFDBCI	0.110899	0.21976	N	-0.691090581408783	0.16273	0.8276962	-0.616157718745024	0.19078	1.02202	0.055757117246681	0.15029	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	3.54	2.5	0.29355	0.107000	0.15212	2.937000	0.35646	0.596000	0.33519	0.000000	0.06391	0.250000	0.23912	0.411000	0.27028	0.0:0.8741:0.0:0.1259	6.944	0.23690	940	0.13648	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	826.33	34	chr19	45067497	.	C	T	826.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=-1.806;SOR=0.732	GT:AD:DP:GQ:PL	0/1:31,29:60:99:840,0,834	18	0	1	0
chr19	46411857	46411857	A	C	exonic	CCDC8	.	nonsynonymous SNV	CCDC8:NM_032040:exon1:c.T954G:p.N318K	3-M syndrome 3, Autosomal recessive	2	1482	37	1	0	39	0.012987	.	.	.	364124	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.013	0.00227337382301	0.0062	0.00339457	0.0050	0.0010	0.0090	0	0.0003	0.0062	0.0088	0.0042	0.0050064	774	154602	rs143086771	0.0063	0.0063	0.0062	0.0063	0.0160	0.0062	0.0061	0.0133	0.0123	0.0010	0.0069	0.0109	2.519e-05	0.0006	0.0160	0.0068	0.0079	0.0043	0.0044	0.0044	0.0043	0.0045	0.0090	0.0041	0.0040	0.0078	0.0073	0.0012	0	0.0090	0.0078	0.0002	0.0007	0.0034	0.0060	0.0081	0.0052	0.005	0.63226	D	0.797	0.04104	T	0.358	0.33818	B	0.167	0.35118	B	0.691773	0.06150	N	1.204220	1	0.08975	N	1.59	0.40313	L	2.67	0.12473	T	-0.55	0.16799	N	0.069	0.04188	-0.9934	0.31722	T	0.022	0.09284	T	10	0.0042613447	0.00085	T	0.002273	0.04342	T	0.013	0.01715	0.326	0.30873	0.227260227426	0.22338	0.09350459414103628	0.09282	0.386056920536	0.39902	0.275714993477	0.06902	T	0.003297	0.02698	T	-0.720637	0.00027	T	-0.803917	0.01806	T	0.00602089812080546	0.00066	T	0.413759	0.10783	T	0.076034315	0.17170	0.07884762	0.17697	0.070274696	0.15466	0.068793766	0.14410	-8.883	0.66940	D	.	.	0.297	0.52784	B	.;.	.;.	0.503261	0.08725	5.497	0.935398834823153	0.23366	0.09523	0.15260	N	AEFBCI	0.134815	0.25496	N	-1.15720104528236	0.05662	0.2587174	-1.34248983866452	0.03895	0.182633	0.999995758242957	0.74766	0.766844	0.99359	0	0.547309	0.14657	0	0.851219	0.99655	0	0.530356	0.10902	0	.	.	4.22	-5.74	0.02197	-1.023000	0.03718	-5.960000	0.01539	-0.238000	0.07553	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.198:0.0:0.4523:0.3496	5.508	0.16156	773	0.48803	.;.	.	.	.	.	.	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	1	0	1	0	0.013595	0.005051	0.025815	0.002924	0.050000	0.025862	0.006098	0.003788	0.02632	2084.33	33	chr19	46411857	.	A	C	2084.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.306;DP=835;ExcessHet=0;FS=0.622;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=2.1;SOR=0.772	GT:AD:DP:GQ:PL	0/1:64,77:141:99:2098,0,1621	18	0	1	0
chr19	46782449	46782449	T	A	exonic	SLC1A5	.	nonsynonymous SNV	SLC1A5:NM_001145145:exon3:c.A152T:p.E51V,SLC1A5:NM_001145144:exon4:c.A74T:p.E25V,SLC1A5:NM_005628:exon4:c.A758T:p.E253V	.	426	1091	5	0	0	5	0.00228624	.	.	.	3198676	SLC1A5-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.248	0.0337837643161	.	0.000399361	0.0023	0.0002	0.0013	0	0.0017	0.0035	0.0011	0.0013	0.0019663	304	154602	rs142211617	0.0018	0.0018	0.0018	0.0018	0.0019	0.0018	0.0017	0.0018	0.0018	0.0005	0.0011	0.0070	0	0.0016	0.0007	0.0019	0.0014	0.0013	0.0012	0.0012	0.0013	0.0011	0.0018	0.0010	0.0010	0.0015	0.0014	0.0003	0	0.0007	0.0067	0	0.0010	0	0.0018	0	0.0004	0.181	0.23450	T	0.115	0.92824	T	0.149	0.27956	B	0.201	0.36881	B	0.001840	0.37892	N	0.264365	0.616571	0.37215	D	2.65	0.77586	M	0.09	0.61443	T	-3.95	0.74051	D	0.66	0.66959	-0.6410	0.63103	T	0.239	0.60619	T	10	0.013037682	0.00278	T	0.033784	0.55227	D	0.248	0.55615	.	.	0.709311354157	0.70677	0.8254172148341693	0.82499	1.15814888507	0.79400	0.512198209763	0.40529	T	0.406343	0.76227	T	-0.334606	0.05770	T	-0.258342	0.48990	T	0.0409493443175332	0.03863	T	0.884012	0.62800	D	0.31626636	0.54323	0.1384585	0.33066	0.31626636	0.54323	0.1384585	0.33065	-4.693	0.42324	T	.	.	0.187	0.48293	B	.;.;.;.;.	.;.;.;.;.	4.316009	0.66020	24.9	0.98314913955808259	0.40183	0.96160	0.67808	D	AEFDBHCI	0.873947	0.79657	D	0.109869765696868	0.46922	2.925308	0.212743235443459	0.50553	3.246218	0.999999999897047	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	5.17	0.70848	4.987000	0.63585	7.797000	0.69042	0.633000	0.51936	1.000000	0.71638	1.000000	0.68203	0.835000	0.39381	0.0:0.0:0.0:1.0	14.145	0.64881	917	0.20147	.;.;.;.;.	.	.	.	.	.	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	0.000504	0.005051	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	2828.33	33	chr19	46782449	.	T	A	2828.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.279;DP=794;ExcessHet=0;FS=4.857;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.86;ReadPosRankSum=1.69;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,74:150:99:0|1:46782449_T_A:2842,0,2956:46782449	18	0	1	0
chr19	46782450	46782450	C	T	exonic	SLC1A5	.	nonsynonymous SNV	SLC1A5:NM_001145145:exon3:c.G151A:p.E51K,SLC1A5:NM_001145144:exon4:c.G73A:p.E25K,SLC1A5:NM_005628:exon4:c.G757A:p.E253K	.	425	1085	12	0	0	12	0.00549954	.	.	.	3198574	SLC1A5-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.182	0.0219815469352	7.7e-05	0.000798722	0.0027	0.0002	0.0013	0.0013	0.0030	0.0038	0.0033	0.0013	0.0023932	370	154602	rs150805394	0.0020	0.0020	0.0019	0.0020	0.0020	0.0019	0.0019	0.0019	0.0019	0.0005	0.0011	0.0071	0.0006	0.0027	0.0010	0.0020	0.0019	0.0015	0.0015	0.0015	0.0015	0.0014	0.0025	0.0013	0.0012	0.0017	0.0016	0.0003	0	0.0007	0.0069	0.0025	0.0024	0	0.0020	0.0005	0.0004	0.643	0.04957	T	0.346	0.92824	T	0.006	0.13644	B	0.03	0.21741	B	0.001840	0.37892	N	0.264365	0.690414	0.37885	D	1.54	0.38927	L	0.31	0.58613	T	-1.3	0.38345	N	0.83	0.83781	-0.8503	0.51948	T	0.162	0.49781	T	10	0.010527581	0.00234	T	0.021982	0.44819	T	0.182	0.45420	.	.	0.638579438245	0.63560	0.8263327269763245	0.82591	0.792038875628	0.65843	0.600970685482	0.53041	T	0.118436	0.43925	T	-0.329015	0.06186	T	-0.247805	0.50034	T	0.0181452035924172	0.00536	T	0.963304	0.90093	D	0.14348467	0.32975	0.1263871	0.30439	0.14348467	0.32975	0.1263871	0.30438	-4.122	0.36970	T	.	.	0.180	0.45690	B	.;.;.;.;.	.;.;.;.;.	4.033797	0.59668	24.1	0.99723245038018582	0.82195	0.97466	0.74931	D	AEFDBHCI	0.955204	0.97287	D	-0.0581813718181673	0.39238	2.31067	0.0718273968829215	0.43138	2.621861	0.999999999997895	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	4.12	0.47504	6.150000	0.71577	5.883000	0.50667	0.570000	0.28895	1.000000	0.71638	1.000000	0.68203	0.830000	0.39126	0.0:0.8538:0.1462:0.0	14.721	0.68917	917	0.20147	.;.;.;.;.	.	.	.	.	.	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	0.000504	0.005051	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	2828.33	33	chr19	46782450	.	C	T	2828.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.552;DP=795;ExcessHet=0;FS=4.857;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.86;ReadPosRankSum=1.77;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,74:150:99:0|1:46782449_T_A:2842,0,2956:46782449	18	0	1	0
chr19	47089996	47089996	C	T	exonic	ZC3H4	.	nonsynonymous SNV	ZC3H4:NM_015168:exon5:c.G686A:p.R229H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0292380860074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-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	6.565e-06	6.562e-06	0	1.343e-05	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.002	0.72154	D	0.243	0.24193	T	0.998	0.73220	D	0.759	0.56370	P	0.011721	0.29430	N	0.137128	0.999185	0.46274	D	0.805	0.20218	L	2.16	0.19166	T	-1.63	0.39119	N	0.556	0.58117	-1.1667	0.00606	T	0.073	0.29707	T	10	0.39832202	0.55387	T	0.029238	0.51783	D	0.174	0.44019	0.16	0.06396	0.0934897674506	0.08844	.	.	1.45200276733	0.86181	0.638032913208	0.58284	T	0.271386	0.64371	T	-0.0741843	0.40657	T	-0.344337	0.39853	T	0.758820198740108	0.43783	D	0.914708	0.69569	D	0.08113827	0.18629	0.08643803	0.20025	0.08113827	0.18629	0.08643803	0.20024	-11.197	0.80727	D	.	.	0.338	0.55740	B	.	.	4.464167	0.69511	25.4	0.99831936478257255	0.91370	0.92350	0.55509	D	AEFDBI	0.432160	0.49415	N	0.43287999427197	0.63240	4.55387	0.454634677978484	0.65017	4.770569	0.99999746266868	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	5.345000	0.65756	3.249000	0.37015	0.596000	0.33519	1.000000	0.71638	0.998000	0.33993	0.639000	0.32395	0.0:1.0:0.0:0.0	18.697	0.91565	883	0.28872	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	183.33	45	chr19	47089996	.	C	T	183.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.346;DP=765;ExcessHet=0;FS=39.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.53;ReadPosRankSum=1.09;SOR=5.355	GT:AD:DP:GQ:PL	0/1:96,24:120:99:197,0,2302	18	0	1	0
chr19	47754612	47754612	C	T	exonic	NOP53	.	nonsynonymous SNV	NOP53:NM_015710:exon7:c.C851T:p.T284M	.	442	1024	49	7	0	63	0.0298437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	0.0048	0.00279553	0.0136	0.0016	0.0076	0	0	0.0152	0.0192	0.0152	0.0034217	529	154602	rs200463741	0.0066	0.0065	0.0063	0.0069	0.0262	0.0065	0.0064	0.0222	0.0207	0.0011	0.0041	0.0135	2.791e-05	0.0013	0.0262	0.0065	0.0078	0.0135	0.0047	0.0048	0.0048	0.0046	0.0126	0.0044	0.0043	0.0101	0.0092	0.0007	0	0.0045	0.0121	0.0002	0.0008	0.0238	0.0071	0.0090	0.0126	0.108	0.29420	T	0.025	0.56192	D	0.927	0.51527	P	0.498	0.47596	P	0.168490	0.03092	N	1.781030	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.21	0.10308	N	0.163	0.17140	-1.0168	0.24755	T	0.073	0.29675	T	10	0.009180903	0.00207	T	.	.	.	0.041	0.10877	.	.	0.341696514166	0.33777	0.12463098791776257	0.12389	0.469969455627	0.46289	0.332075119019	0.15247	T	0.025983	0.19322	T	-0.613896	0.00120	T	-0.643564	0.09412	T	0.0283586252326964	0.01741	T	0.693531	0.30321	T	0.013671488	0.00066	0.027146567	0.00847	0.013671488	0.00066	0.027146567	0.00847	-5.807	0.44635	T	.	.	0.082	0.08657	B	.	.	1.784252	0.22686	15.72	0.99572906523437688	0.72501	0.08317	0.14262	N	AEFDBHCI	0.136783	0.25756	N	-0.494089786967939	0.22273	1.188187	-0.652737263232716	0.18147	0.9681613	0.0370203101049433	0.14274	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.87	1.65	0.23015	-0.020000	0.12466	-1.828000	0.04652	-0.376000	0.05418	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.6466:0.2284:0.125	4.672	0.12077	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	0.034557	0.024691	0.022535	0.041935	0.000000	0.028302	0.033333	0.064885	0.07895	2181.79	33	chr19	47754612	.	C	T	2181.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.23;DP=765;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.083;SOR=0.697	GT:AD:DP:GQ:PL	0/1:29,33:62:99:926,0,730	16	0	3	0
chr19	48140013	48140013	C	T	exonic	LIG1	.	nonsynonymous SNV	LIG1:NM_001289064:exon10:c.G841A:p.V281M,LIG1:NM_001289063:exon11:c.G952A:p.V318M,LIG1:NM_001320971:exon11:c.G955A:p.V319M,LIG1:NM_000234:exon12:c.G1045A:p.V349M,LIG1:NM_001320970:exon12:c.G1042A:p.V348M	DNA ligase I deficiency (3)	415	1099	7	1	0	9	0.00407793	.	.	.	1158606	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.103	.	0.0022	0.00199681	0.0033	9.639e-05	0.0004	0	0.0136	0.0032	0.0077	0.0050	0.0029689	459	154602	rs3730947	0.0027	0.0027	0.0026	0.0028	0.0055	0.0026	0.0026	0.0051	0.0049	0.0002	0.0004	0.0095	0	0.0153	0.0016	0.0020	0.0028	0.0055	0.0028	0.0028	0.0021	0.0035	0.0054	0.0026	0.0025	0.0038	0.0032	0.0006	0	0.0005	0.0101	0.0002	0.0165	0	0.0022	0.0019	0.0054	0.001	0.78490	D	0.002	0.79402	D	0.994	0.66517	D	0.816	0.58888	P	0.045139	0.23568	N	0.447839	0.759073	0.34017	D	2.135	0.59519	M	2.13	0.19588	T	-2.28	0.50830	N	0.386	0.47672	-0.9917	0.32167	T	0.058	0.24502	T	10	0.014671981	0.00308	T	.	.	.	0.103	0.29403	.	.	0.440394187108	0.43661	0.5568665366148533	0.55613	0.80779589675	0.66579	0.355817586184	0.18775	T	0.225735	0.59056	T	-0.435523	0.01374	T	-0.396595	0.33782	T	0.0345920890856649	0.02739	T	0.98999	0.96889	D	0.46690133	0.65099	0.4419109	0.67459	0.46690133	0.65100	0.4419109	0.67459	-9.456	0.72857	D	.	.	0.171	0.51703	B	.;.;.;.	.;.;.;.	2.513593	0.32468	19.05	0.99762343674211051	0.85172	0.08890	0.14750	N	AEFGBI	0.031938	0.03514	N	-0.122491504024009	0.36413	2.104502	-0.276718362843338	0.28866	1.612848	4.2750514314573E-4	0.06935	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.89	1.55	0.22356	0.416000	0.20918	1.646000	0.27819	0.599000	0.40250	0.092000	0.22623	0.925000	0.28409	0.825000	0.38878	0.0:0.6204:0.0:0.3796	7.081	0.24408	846	0.36215	DNA ligase, ATP-dependent, N-terminal;DNA ligase, ATP-dependent, N-terminal;.;.	.	.	.	.	rs3730947	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	1	0	0.006042	0.000000	0.004076	0.002924	0.050000	0.000000	0.012195	0.011364	0.05263	4923.83	34	chr19	48140013	.	C	T	4923.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.35;DP=1141;ExcessHet=0.119;FS=0.522;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.742;SOR=0.771	GT:AD:DP:GQ:PL	0/1:104,82:186:99:2106,0,2467	17	0	2	0
chr19	48375676	48375676	C	T	exonic	SYNGR4	.	nonsynonymous SNV	SYNGR4:NM_012451:exon4:c.C395T:p.P132L	.	416	1097	9	0	0	9	0.00408534	.	.	.	2818523	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.064	.	0.0037	0.00319489	0.0062	0.0005	0.0027	0	0.0221	0.0069	0.0143	0.0062	0.0056338	871	154602	rs34058038	0.0058	0.0058	0.0057	0.0059	0.0061	0.0057	0.0057	0.0057	0.0055	0.0009	0.0021	0.0046	2.519e-05	0.0228	0.0043	0.0055	0.0054	0.0061	0.0050	0.0050	0.0038	0.0063	0.0053	0.0047	0.0046	0.0048	0.0046	0.0007	0.0318	0.0020	0.0040	0.0002	0.0261	0.0068	0.0053	0.0028	0.0041	0.197	0.20607	T	0.078	0.42261	T	0.806	0.45231	P	0.192	0.36449	B	0.102770	0.19778	N	0.565953	1	0.08975	N	1.59	0.40313	L	1.81	0.25182	T	-1.97	0.45587	N	0.285	0.33469	-1.0530	0.13574	T	0.034	0.14813	T	10	0.003685236	0.00068	T	.	.	.	0.064	0.18567	.	.	0.0611884634855	0.05136	0.39221288763361933	0.39136	0.085052402666	0.09612	0.202998846769	0.00549	T	0.004187	0.03601	T	-0.617613	0.00114	T	-0.65551	0.08573	T	0.010389981425285	0.00143	T	0.464054	0.25361	T	0.06791769	0.14750	0.061516482	0.11892	0.06791769	0.14750	0.061516482	0.11891	-3.607	0.17958	T	.	.	0.075	0.19357	B	.;.;.	.;.;.	1.581272	0.20234	14.65	0.81415119328436869	0.13674	0.10352	0.15882	N	AEFBI	0.078953	0.15938	N	-0.639732997772285	0.17760	0.9166018	-0.848024040145651	0.13335	0.6912044	2.21226211095294E-5	0.03498	0.57788	0.32782	0	0.547309	0.14657	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	4.15	-2.89	0.05326	0.015000	0.13250	0.039000	0.13841	-0.224000	0.07868	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.5395:0.3487:0.1119:0.0	9.703	0.39364	958	0.09170	Marvel domain|Marvel domain;Marvel domain;Marvel domain|Marvel domain	.	.	.	.	rs34058038	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	1	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.05263	2017.83	33	chr19	48375676	.	C	T	2017.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.58;DP=729;ExcessHet=0.119;FS=2.286;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=1.51;SOR=0.927	GT:AD:DP:GQ:PL	0/1:35,39:74:99:1136,0,773	17	0	2	0
chr19	48450346	48450346	G	C	exonic	GRWD1	.	nonsynonymous SNV	GRWD1:NM_031485:exon4:c.G502C:p.V168L	.	420	1093	8	1	0	10	0.00455373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0710008916161	0.0010	0.000199681	0.0014	0.0001	0.0009	0	0.0020	0.0018	0	0.0014	0.0012096	187	154602	rs148152481	0.0013	0.0013	0.0013	0.0013	0.0032	0.0013	0.0013	0.0020	0.0016	0.0001	0.0009	7.658e-05	0	0.0027	0.0032	0.0014	0.0011	0.0009	0.0010	0.0010	0.0012	0.0009	0.0012	0.0009	0.0009	0.0010	0.0009	0.0002	0.0186	0.0010	0.0003	0	0.0024	0.0102	0.0012	0.0009	0.0002	0.021	0.49117	D	0.01	0.65728	D	0.0	0.02946	B	0.003	0.08700	B	0.005967	0.32369	N	0.243510	0.999996	0.58761	D	1.95	0.52479	M	-0.29	0.74896	T	-0.98	0.25986	N	0.602	0.62018	-0.6683	0.61905	T	0.240	0.60797	T	10	0.011403292	0.00249	T	0.071001	0.71153	D	0.240	0.54500	0.509	0.60540	0.778457197321	0.77641	0.4654884380735722	0.46467	0.334029153294	0.35426	0.47670969367	0.35604	T	0.025571	0.19569	T	-0.293152	0.09323	T	-0.212884	0.53420	T	0.0175791652374933	0.00492	T	0.910809	0.68393	D	0.05474859	0.10546	0.07374619	0.16060	0.05474859	0.10546	0.07374619	0.16059	-7.59	0.58241	D	.	.	0.438	0.64187	A	.;.	.;.	1.801923	0.22900	15.81	0.98132308122215617	0.38530	0.94740	0.62167	D	AEFDGBCI	0.439858	0.49866	N	-0.347754356198686	0.27354	1.500148	-0.339657874871851	0.26830	1.484611	0.999966086693552	0.48965	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.59	2.54	0.29674	3.810000	0.55318	3.356000	0.37822	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.539000	0.29915	0.1026:0.0:0.8974:0.0	10.296	0.42806	958	0.09170	.;.	.	.	.	.	.	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	0.001012	0.005102	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	738.33	39	chr19	48450346	.	G	C	738.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=662;ExcessHet=0;FS=1.034;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=0.236;SOR=0.536	GT:AD:DP:GQ:PL	0/1:29,26:55:99:752,0,827	18	0	1	0
chr19	49652413	49652413	G	C	exonic	SCAF1	.	nonsynonymous SNV	SCAF1:NM_021228:exon7:c.G2024C:p.C675S	.	341	1179	2	0	0	2	0.000847458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0986100243925	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1267297652	3.467e-06	3.421e-06	6.895e-06	0	3.614e-06	1.02e-06	7.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.614e-06	1.676e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366	0.11696	T	0.759	0.04652	T	0.0	0.02946	B	0.0	0.01387	B	0.147078	0.18092	N	0.398233	1	0.08975	N	0	0.06538	N	1.65	0.27650	T	0.42	0.03352	N	0.074	0.04790	-1.0390	0.17617	T	0.037	0.15770	T	9	0.07604504	0.11830	T	0.09861	0.76970	D	0.086	0.25016	0.2	0.11384	0.043077524339	0.03247	0.04730773108904398	0.04673	0.77805699904	0.65136	0.814657628536	0.84207	D	0.013933	0.11958	T	-0.35803	0.04242	T	-0.752062	0.03406	T	0.0398725298188631	0.03667	T	0.177582	0.01737	T	0.07341565	0.16403	0.10425398	0.25035	0.07341565	0.16403	0.10425398	0.25035	1.478	0.00084	T	.	.	0.060	0.00876	B	.	.	0.317347	0.06923	3.463	0.59257314969426211	0.06182	0.10744	0.16162	N	AEFBI	0.109400	0.21730	N	-0.945459882465041	0.09795	0.4651595	-0.949612093984267	0.10932	0.5538126	0.996063452437635	0.34501	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	2.8	2.8	0.31881	2.170000	0.42071	1.981000	0.30034	-0.280000	0.06433	0.029000	0.20367	0.080000	0.22369	0.004000	0.06068	0.0:0.0:1.0:0.0	12.764	0.56755	783	0.47268	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1659.33	35	chr19	49652413	.	G	C	1659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.315;DP=753;ExcessHet=0;FS=0.77;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.593;SOR=0.818	GT:AD:DP:GQ:PL	0/1:50,61:111:99:1673,0,1333	18	0	1	0
chr19	50771465	50771465	A	T	exonic	GPR32	.	nonsynonymous SNV	GPR32:NM_001506:exon1:c.A865T:p.I289F	.	422	1090	10	0	0	10	0.00456621	.	.	.	4142272	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.100	0.0135158602743	.	.	0.0003	0.0002	0.0011	0	0	0.0003	0.0022	0.0002	0.0002652	41	154602	rs200540415	3.629e-05	0.0005	3.27e-05	3.992e-05	0.0002	2.831e-05	2.567e-05	4.907e-05	3.165e-05	0	4.485e-05	7.685e-05	0.0001	0	0.0002	2.7e-05	9.957e-05	8.126e-05	0.0002	0.0006	0.0003	0.0002	0.0007	0.0002	0.0001	0.0004	0.0003	0.0001	0	0.0007	0.0009	0	0	0.0071	0.0001	0.0014	0	0.47	0.08483	T	0.72	0.05345	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.625	0.15840	N	-0.62	0.71895	T	-0.44	0.14588	N	0.067	0.03956	-1.0085	0.27385	T	0.082	0.32411	T	9	0.02359277	0.00622	T	0.013516	0.32986	T	0.100	0.28662	.	.	0.191931220699	0.18833	0.4418403770200765	0.44101	0.599033245767	0.55049	0.220725059509	0.01352	T	0.010242	0.09261	T	-0.234002	0.16122	T	-0.573904	0.15093	T	0.0200426554432287	0.00705	T	0.30057	0.05631	T	0.03426046	0.03810	0.037491813	0.03413	0.03426046	0.03809	0.037491813	0.03413	-3.393	0.14963	T	.	.	0.122	0.25495	B	.	.	-1.276498	0.00458	0.010	0.84971871269147214	0.15607	0.00704	0.02988	N	AEFGBI	0.024173	0.01454	N	-1.87386027021591	0.00388	0.01669344	-1.92065969197637	0.00445	0.01970853	0.0071927647476123	0.11407	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.41	-4.82	0.02938	-2.592000	0.00972	-5.578000	0.01668	-0.628000	0.04523	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.1898:0.3412:0.0:0.4691	3.268	0.06465	917	0.20147	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	0.010574	0.010101	0.009511	0.014620	0.000000	0.034483	0.003049	0.007576	0.02632	1086.33	33	chr19	50771465	.	A	T	1086.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=967;ExcessHet=0;FS=0.509;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.9;MQRankSum=-11.4;QD=3.27;ReadPosRankSum=-0.306;SOR=0.737	GT:AD:DP:GQ:PL	0/1:269,63:332:99:1100,0,7586	18	0	1	0
chr19	50771478	50771478	G	A	exonic	GPR32	.	nonsynonymous SNV	GPR32:NM_001506:exon1:c.G878A:p.R293Q	.	421	1095	6	0	0	6	0.00273224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0250879696031	.	.	7.414e-05	9.61e-05	0.0002	0	0	8.991e-05	0	0	6.5e-06	1	154602	rs746721602	2.054e-05	0.0003	1.634e-05	2.477e-05	5.976e-05	1.457e-05	1.264e-05	1.584e-05	1.151e-05	5.976e-05	0	0	0	1.872e-05	0	2.069e-05	0	4.642e-05	0.0001	0.0006	0.0001	0.0001	0.0004	8.67e-05	7.261e-05	0.0002	0.0001	7.222e-05	0	0.0004	0.0003	0	0	0.0036	8.831e-05	0.0014	0	0.59	0.05808	T	0.611	0.07666	T	0.013	0.16609	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.15	0.29295	L	-0.59	0.71543	T	0.48	0.03041	N	0.021	0.00339	-1.0261	0.21723	T	0.126	0.43112	T	9	0.09293157	0.16405	T	0.025088	0.48071	D	0.097	0.27909	.	.	0.476364732183	0.47263	0.2719274598090293	0.27105	0.432164153585	0.43397	0.177460566163	0.00073	T	0.008391	0.07706	T	-0.21269	0.19002	T	-0.543291	0.17974	T	0.0212880544221406	0.00831	T	0.273273	0.04638	T	0.017954215	0.00318	0.025809059	0.00640	0.017954215	0.00318	0.025809059	0.00640	-3.018	0.10376	T	.	.	0.093	0.14015	B	.	.	0.862598	0.12349	8.889	0.86910214748335657	0.16856	0.01031	0.03865	N	AEFDGBI	0.030313	0.03025	N	-1.38764402018715	0.02753	0.1220154	-1.51046130352902	0.02263	0.1038201	0.136155468026597	0.17185	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.56	-5.12	0.02674	0.450000	0.21475	-2.169000	0.04112	0.356000	0.20028	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.323:0.2633:0.2822:0.1315	1.154	0.01682	917	0.20147	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	0.004028	0.010101	0.001359	0.005848	0.000000	0.017241	0.000000	0.000000	0.02632	798.33	33	chr19	50771478	.	G	A	798.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.33;DP=950;ExcessHet=0;FS=1.879;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.88;MQRankSum=-12.29;QD=2.55;ReadPosRankSum=-1.648;SOR=0.847	GT:AD:DP:GQ:PL	0/1:262,51:313:99:812,0,6754	18	0	1	0
chr19	51354373	51354373	G	A	exonic	ETFB	.	nonsynonymous SNV	ETFB:NM_001014763:exon1:c.C266T:p.A89V	Glutaric acidemia IIB, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.101679014282	0.0002	.	2.481e-05	9.66e-05	0.0002	0	0	0	0	0	1.94e-05	3	154602	rs143544475	6.157e-06	6.156e-06	6.806e-06	5.501e-06	8.961e-05	2.9e-06	2.1e-06	2.375e-05	1.258e-05	8.961e-05	6.709e-05	0	2.519e-05	0	0	8.993e-07	0	1.159e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	.	.	2.412e-05	0	6.544e-05	0	0.0002	0	0	0	0	0	0.526	0.07116	T	0.537	0.09863	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.18198	N	.	.	.	-1.78	0.83737	D	-0.94	0.25118	N	0.06	0.03175	-0.9108	0.46756	T	0.251	0.62096	T	7	0.03958878	0.02461	T	0.101679	0.77470	D	0.141	0.37795	.	.	0.126345400529	0.12197	0.4139327008994937	0.41309	0.219908508843	0.24531	0.390476286411	0.23736	T	.	.	.	-0.35184	0.04612	T	-0.546199	0.17693	T	0.0174009127874513	0.00478	T	0.341666	0.07415	T	.	.	.	.	.	.	.	.	-3.855	0.21629	T	.	.	0.127	0.27131	B	.	.	-0.532862	0.01765	0.134	0.63818474965286753	0.07325	0.00312	0.01649	N	AEFDGBHCI	.	.	.	-1.73018526828149	0.00740	0.03195969	-1.87329315326503	0.00552	0.02449099	0.999999999999962	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.459711	0.06710	0	0.567892	0.33627	0	.	.	4.49	-8.98	0.00647	-1.745000	0.01930	.	.	-2.535000	0.00252	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5027:0.3795:0.1179:0.0	8.449	0.32021	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	.	.	.	.	.	.	.	.	0.05263	3951.83	37	chr19	51354373	.	G	A	3951.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.19;DP=916;ExcessHet=0.119;FS=2.026;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=0.098;SOR=0.754	GT:AD:DP:GQ:PL	0/1:67,73:140:99:1905,0,1720	17	0	2	0
chr19	52384817	52384817	-	TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG	exonic	ZNF880	.	frameshift insertion	ZNF880:NM_001145434:exon4:c.1237_1238insTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG:p.C413Ffs*26	.	356	750	399	11	6	427	0.219157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	9.004e-05	0.0002	0	0.0002	0.0011	0.0001	.	.	.	.	0.0011	0.0034	0.0011	0.0011	0.0017	0.0011	0.0010	0.0015	0.0014	0.0015	0.0014	0.0027	0.0017	0.0016	0.0012	0.0009	0.0017	0.0017	0.0051	0.0069	0.0056	0.0045	0.0071	0.0048	0.0046	0.0051	0.0050	0.0046	0.0045	0.0056	0.0051	0.0026	0.0033	0.0106	0.0056	0.0030	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7478.95	112	chr19	52384817	.	T	TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG	7478.95	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=1482;ExcessHet=8.9063;FS=89.324;InbreedingCoeff=-0.4309;MLEAC=1;MLEAF=0.026;MQ=58.21;MQRankSum=-1.732;QD=10.33;ReadPosRankSum=0.237;SOR=6.498	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,13:74:99:.:.:343,0,2490:.	18	0	1	0
chr19	53942340	53942340	-	G	exonic	CACNG7	.	frameshift insertion	CACNG7:NM_001384801:exon5:c.730dupG:p.S246Vfs*90	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00599042	0.0023	0.0216	0.0015	0	0	0.0003	0.0025	0.0006	0.0003074	8	26028	rs376023795	0.0009	0.0009	0.0010	0.0008	0.0210	0.0008	0.0008	0.0197	0.0192	0.0210	0.0018	0.0020	0	2.486e-05	0.0031	0.0002	0.0024	0.0008	0.0066	0.0066	0.0066	0.0065	0.0219	0.0062	0.0061	0.0207	0.0202	0.0219	0	0.0036	0.0014	0.0002	0	0	0.0002	0.0048	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	33452.9	93	chr19	53942340	.	A	AG	33452.9	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.394;DP=1514;ExcessHet=2.0135;FS=1.847;InbreedingCoeff=-0.1875;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=25.44;ReadPosRankSum=0.224;SOR=0.952	GT:AD:DP:GQ:PL	0/1:0,40:73:99:2055,1029,1153	17	0	2	0
chr19	54155817	54155817	T	G	exonic	LENG1	.	nonsynonymous SNV	LENG1:NM_024316:exon4:c.A699C:p.E233D	.	418	1098	6	0	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00331538677278	0.0009	0.000599042	0.0009	0.0008	0.0007	0.0023	0	0.0009	0.0027	0.0005	0.000705	109	154602	rs146921339	0.0006	0.0006	0.0006	0.0006	0.0042	0.0005	0.0005	0.0029	0.0024	0.0008	0.0008	0	0.0013	1.9e-05	0.0042	0.0005	0.0008	0.0005	0.0006	0.0006	0.0007	0.0005	0.0019	0.0005	0.0004	0.0010	0.0007	0.0008	0	0.0003	0	0.0012	0	0.0034	0.0005	0.0009	0.0019	0.41	0.10148	T	0.202	0.27414	T	.	.	.	.	.	.	0.000931	0.00711	N	10.451800	0.999996	0.08975	N	.	.	.	0.82	0.48142	T	-1.1	0.28497	N	0.09	0.06854	-0.9557	0.39970	T	0.169	0.50842	T	10	0.004676223	0.00098	T	0.003315	0.07359	T	0.062	0.17934	0.11	0.02049	0.33835085245	0.33439	0.16810999960807635	0.16730	0.0208642183432	0.02063	0.48943144083	0.37359	T	.	.	.	-0.579198	0.00195	T	-0.623769	0.10891	T	0.0190144803108184	0.00610	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10304	B	.	.	-0.575392	0.01640	0.114	0.97684303309218157	0.35335	0.15684	0.19032	N	AEFDBHCI	0.093529	0.18923	N	-1.2269822642748	0.04612	0.2085157	-1.38205659021072	0.03443	0.160615	0.999945673737073	0.47345	0.631515	0.41029	0	0.697927	0.68747	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.17	-2.72	0.05616	-3.251000	0.00597	.	.	-0.915000	0.02235	0.000000	0.06391	0.052000	0.21854	0.003000	0.05239	0.0:0.3636:0.1387:0.4978	5.792	0.17630	994	0.00715	.	.	.	.	.	.	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	0.001517	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	1302.83	37	chr19	54155817	.	T	G	1302.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.132;DP=756;ExcessHet=0.119;FS=2.009;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=7.94;ReadPosRankSum=0.376;SOR=0.891	GT:AD:DP:GQ:PL	0/1:57,32:89:99:711,0,1532	17	0	2	0
chr19	54181082	54181082	G	T	exonic	MBOAT7	.	nonsynonymous SNV	MBOAT7:NM_001146056:exon4:c.C326A:p.P109H,MBOAT7:NM_001146083:exon5:c.C326A:p.P109H,MBOAT7:NM_001146082:exon6:c.C545A:p.P182H,MBOAT7:NM_024298:exon6:c.C545A:p.P182H	Mental retardation, autosomal recessive 57, Autosomal recessive	396	1125	1	0	0	1	0.000444247	.	.	.	3694636	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.341	0.884359265108	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1221114904	2.915e-06	4.788e-06	4.298e-06	1.483e-06	0.0002	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0.0002	2.81e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.042	0.50226	D	0.989	0.62824	D	0.769	0.58847	P	.	.	.	.	0.519666	0.31886	D	1.895	0.50365	L	-0.67	0.72458	T	-1.26	0.32590	N	0.437	0.47580	-0.5755	0.65795	T	0.298	0.66896	T	9	0.67201495	0.70769	D	0.884359	0.99120	D	0.341	0.66297	0.666	0.80401	0.780972449939	0.77894	0.38604323008647135	0.38519	0.722988490743	0.62316	0.748688876629	0.74254	T	0.045559	0.27160	T	-0.0335732	0.46897	T	-0.286002	0.46187	T	0.727758049964905	0.42094	D	.	.	.	0.08552897	0.19844	0.09703469	0.23080	0.08552897	0.19843	0.09703469	0.23079	-11.541	0.82543	D	.	.	0.271	0.57805	B	.;.;.;.;.	.;.;.;.;.	4.163361	0.62537	24.5	0.99598817704233289	0.74101	0.90310	0.51384	D	AEFDBI	0.713218	0.66609	D	0.294328999250243	0.55861	3.750184	0.271218178536642	0.53865	3.553563	0.962709615942408	0.28640	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.06	2.93	0.33092	5.452000	0.66380	.	.	0.669000	0.69127	1.000000	0.71638	1.000000	0.68203	0.525000	0.29590	0.1002:0.0:0.7232:0.1766	6.726	0.22543	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1136.33	19	chr19	54181082	.	G	T	1136.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.111;DP=668;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=0.307;SOR=0.699	GT:AD:DP:GQ:PL	0/1:34,44:78:99:1150,0,966	18	0	1	0
chr19	54575495	54575495	C	T	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon4:c.C859T:p.H287Y,LILRA2:NM_001130917:exon5:c.C895T:p.H299Y,LILRA2:NM_001290271:exon6:c.C895T:p.H299Y,LILRA2:NM_006866:exon6:c.C895T:p.H299Y	.	3	1518	1	0	0	1	0.000329272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.000739428079904	.	.	0.0001	0.0003	0	0	0	6.022e-05	0	0.0005	0.0001035	16	154602	rs748031724	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	0.0002	0.0002	0	0	0	0.0012	0.0001	9.952e-05	0.0005	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0002	0.0001	0.0001	0.0209	0.0004	0	0	0	0	0.0002	0	0	0.125	0.27663	T	0.235	0.26145	T	0.007	0.14184	B	0.039	0.27651	B	0.885305	0.08726	N	0.927675	1	0.08975	N	.	.	.	2.67	0.12473	T	-4.01	0.81431	D	0.117	0.11054	-0.9526	0.40520	T	0.025	0.10553	T	10	0.006554544	0.00149	T	7.39E-4	0.00510	T	0.016	0.02506	.	.	0.104622674875	0.10061	0.036418960367871706	0.03588	0.0197447889062	0.01940	.	.	.	0.066437	0.32945	T	-0.519667	0.00442	T	-0.634811	0.10052	T	0.0211344541784294	0.00815	T	0.0553945	0.00400	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.16187	B	.;.;.;.;.	.;.;.;.;.	-0.228098	0.02949	0.435	0.6604808880966978	0.07946	0.00302	0.01607	N	AEFBI	0.056871	0.10547	N	-1.26142422653565	0.04151	0.1867884	-1.35960241234403	0.03694	0.1728403	0.997558965748475	0.35751	0.623552	0.39893	0	0.659912	0.62753	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.77	-1.62	0.07926	-1.400000	0.02610	.	.	-0.316000	0.05924	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.496:0.0:0.504	5.76	0.17461	958	0.09170	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1675.33	38	chr19	54575495	.	C	T	1675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.01;DP=851;ExcessHet=0;FS=5.021;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.5;MQRankSum=-4.56;QD=22.95;ReadPosRankSum=-0.781;SOR=0.311	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,43:73:99:0|1:54575489_A_G:1689,0,1106:54575489	18	0	1	0
chr19	54783658	54783658	C	G	exonic	KIR2DL1;KIR2DL2;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon8:c.C892G:p.Q298E,KIR2DL1:NM_014218:exon8:c.C892G:p.Q298E,KIR2DL2:NM_014219:exon8:c.C892G:p.Q298E	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.000895883735407	.	.	0.0003	0.0002	0.0001	0	0	2.798e-05	0	0.0017	.	.	.	rs766955777	3.968e-05	4.104e-05	3.267e-05	4.676e-05	0.0005	3.113e-05	2.847e-05	0.0004	0.0004	2.987e-05	0	0	2.519e-05	0	0	8.993e-06	1.656e-05	0.0005	7.89e-05	7.88e-05	0.0001	5.385e-05	0.0012	4.499e-05	3.514e-05	0.0005	0.0004	0.0001	0	0	0	0	0	0	1.47e-05	0	0.0012	0.112	0.28900	T	0.065	0.45744	T	0.006	0.13644	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	.	.	.	7.18	0.00492	T	-1.3	0.33998	N	0.191	0.31590	-0.8109	0.54496	T	0.002	0.00769	T	9	0.022644341	0.00571	T	8.96E-4	0.00822	T	0.075	0.21907	0.311	0.28451	0.436780212511	0.43300	0.03217987791316938	0.03165	2.91012196725	0.99100	0.447773337364	0.31640	T	0.051565	0.28916	T	-0.338482	0.05494	T	-0.5323	0.19058	T	0.018877986818552	0.00598	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.01622	B	.;.	.;.	0.131888	0.05272	1.772	0.96329481011587981	0.29443	0.00898	0.03523	N	AEFDBI	0.046278	0.07667	N	-0.767993547370789	0.14149	0.7025105	-0.923847191844141	0.11532	0.5880643	2.25101053865885E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.08	1.08	0.19456	-0.034000	0.12176	.	.	0.361000	0.20101	0.113000	0.23048	0.000000	0.08366	0.103000	0.18424	0.0:1.0:0.0:0.0	5.543	0.16334	976	0.04745	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	12193.8	489	chr19	54783658	.	C	G	12193.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.817;DP=5685;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.83;MQRankSum=0.539;QD=13.18;ReadPosRankSum=-0.434;SOR=0.672	GT:AD:DP:GQ:PL	0/1:225,215:440:99:5925,0,6073	17	0	2	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3628.45	124	chr19	55358524	.	C	*	3628.45	.	AC=34;AF=0.895;AN=38;DP=2110;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.07;SOR=0.847	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,85:85:99:.:.:3812,262,0:.	0	15	4	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3915.38	124	chr19	55358535	.	T	*	3915.38	.	AC=34;AF=0.895;AN=38;DP=2124;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.23;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,85:85:99:.:.:3812,262,0:.	0	15	4	0
chr19	55483720	55483752	GTCCAGCTCCAGCCAGCACAGGAAGTAACCACG	-	exonic	ZNF628	.	nonframeshift deletion	ZNF628:NM_033113:exon3:c.2527_2559del:p.A859_P869del	.	412	1107	3	0	0	3	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0003	0	0	0.0003	0	0.0004	3.84e-05	1	26028	rs777519969	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0005	0.0003	0	0.0002	3.828e-05	0	0.0002	0.0010	0.0001	0.0002	0.0004	0.0002	0.0002	0.0001	0.0003	0.0008	0.0001	0.0001	0.0003	0.0002	4.833e-05	0	6.562e-05	0	0	0	0.0171	0.0002	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1118.29	44	chr19	55483719	.	AGTCCAGCTCCAGCCAGCACAGGAAGTAACCACG	A	1118.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.261;DP=936;ExcessHet=0;FS=0.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-1.291;SOR=0.674	GT:AD:DP:GQ:PL	0/1:67,33:100:99:1132,0,2638	18	0	1	0
chr19	55622185	55622185	C	T	exonic	ZNF784	.	nonsynonymous SNV	ZNF784:NM_203374:exon2:c.G538A:p.E180K	.	326	1176	20	0	0	20	0.0084317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	.	0.0091853	0.0179	0.0060	0	0	0	0.0078	0	0.0236	0.0042237	653	154602	rs200843026	0.0100	0.0097	0.0098	0.0103	0.0203	0.0099	0.0098	0.0195	0.0191	0.0013	0.0027	0.0031	0	0.0110	0.0069	0.0103	0.0087	0.0203	0.0065	0.0065	0.0065	0.0064	0.0223	0.0061	0.0060	0.0189	0.0176	0.0014	0	0.0030	0.0032	0.0004	0.0059	0	0.0101	0.0038	0.0223	0.506	0.07594	T	0.83	0.03717	T	0.895	0.49247	P	0.191	0.36391	B	0.001782	0.37998	N	0.000000	1	0.81001	D	0.895	0.22405	L	2.99	0.09262	T	0.14	0.05405	N	0.075	0.04913	-0.9087	0.47013	T	0.014	0.05753	T	10	0.003662169	0.00067	T	.	.	.	0.081	0.23632	.	.	0.186928172975	0.18263	0.34875874643154625	0.34789	1.55192575573	0.87917	0.892487764359	0.95567	D	0.004066	0.03473	T	-0.509117	0.00508	T	-0.487831	0.23619	T	0.0175677526721644	0.00490	T	0.713029	0.32487	T	0.12963565	0.30272	0.116971575	0.28237	0.12963565	0.30271	0.116971575	0.28236	-4.935	0.36126	T	.	.	0.355	0.56920	A	.	.	3.237655	0.44185	21.9	0.99802079065761995	0.88639	0.31536	0.24362	N	AEFDBCI	0.097369	0.19640	N	-0.357853418025427	0.26985	1.477026	-0.387883954714795	0.25357	1.393988	0.995097536887973	0.33950	0.580535	0.33130	0	0.550933	0.16991	0	0.536957	0.11973	0	0.604944	0.38103	0	.	.	3.21	3.21	0.35933	0.983000	0.29150	2.625000	0.33658	0.522000	0.23927	0.095000	0.22689	0.858000	0.27459	0.539000	0.29915	0.0:1.0:0.0:0.0	10.200	0.42254	911	0.21964	.	ZNF784|ZNF784|CTD-2537I9.18|ZNF784	Adipose_Subcutaneous|Nerve_Tibial|Thyroid|Thyroid	.	.	.	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	0.002176	0.005682	0.002933	0.000000	0.000000	0.000000	0.003425	0.000000	0.05263	896.83	53	chr19	55622185	.	C	T	896.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.5;DP=716;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=-1.207;SOR=0.654	GT:AD:DP:GQ:PL	0/1:33,12:45:99:291,0,827	17	0	2	0
chr19	56664306	56664306	C	T	exonic	ZNF835	.	nonsynonymous SNV	ZNF835:NM_001005850:exon2:c.G893A:p.R298H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00832494536151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.725	0.79712	M	1.78	0.25678	T	-4.38	0.77143	D	0.182	0.19728	-0.9973	0.30673	T	0.153	0.48222	T	9	0.25285715	0.42645	T	0.008325	0.22029	T	0.053	0.14996	.	.	0.385417323374	0.38153	0.03325199425924132	0.03273	.	.	0.646269798279	0.59456	T	0.05671	0.30365	T	-0.180614	0.23644	T	-0.497216	0.22636	T	0.973818063735962	0.70250	D	0.953805	0.82399	D	0.27789238	0.50845	0.281197	0.54100	0.27789238	0.50844	0.281197	0.54099	-9.479	0.70728	D	.	.	0.675	0.71929	P	.	.	3.902544	0.56852	23.8	0.99902031714650008	0.97350	0.08332	0.14275	N	AEFDBI	0.124630	0.24077	N	0.0432414436804544	0.43831	2.668	-0.211632967180947	0.31117	1.758067	0.00120997410655314	0.08334	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.12	2.12	0.26372	-0.158000	0.10058	.	.	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.974000	0.55675	0.0:1.0:0.0:0.0	10.287	0.42753	988	0.01987	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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	95.33	33	chr19	56664306	.	C	T	95.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.281;DP=1060;ExcessHet=0;FS=54.515;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=-1.435;SOR=5.668	GT:AD:DP:GQ:PL	0/1:93,16:109:99:109,0,2231	18	0	1	0
chr19	56664558	56664558	C	T	exonic	ZNF835	.	nonsynonymous SNV	ZNF835:NM_001005850:exon2:c.G641A:p.R214H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00472572507613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.445	0.70938	M	1.78	0.25678	T	-4.48	0.77965	D	0.128	0.12198	-1.0249	0.22116	T	0.155	0.48533	T	9	0.26291147	0.43764	T	0.004726	0.11753	T	0.073	0.21317	.	.	0.38225645794	0.37833	0.04117342378736333	0.04062	.	.	0.661956310272	0.61689	T	0.060495	0.31401	T	-0.201241	0.20626	T	-0.526845	0.19604	T	0.980389297008514	0.73331	D	0.837116	0.50934	T	0.37410736	0.58886	0.3974707	0.64361	0.37410736	0.58887	0.3974707	0.64361	-8.414	0.63858	D	.	.	0.675	0.71941	P	.	.	2.802493	0.36869	20.4	0.99873464405780299	0.95076	0.02058	0.06143	N	AEFDBI	0.077289	0.15567	N	-0.0278538047655972	0.40596	2.413631	-0.297848589078598	0.28169	1.568482	1.99179217371448E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	2.12	2.12	0.26372	-0.184000	0.09693	.	.	0.520000	0.23804	0.000000	0.06391	0.000000	0.08366	0.217000	0.22379	0.0:1.0:0.0:0.0	10.287	0.42753	988	0.01987	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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	172.33	33	chr19	56664558	.	C	T	172.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.676;DP=1072;ExcessHet=0;FS=69.719;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.93;MQRankSum=0.508;QD=1.44;ReadPosRankSum=-0.577;SOR=6.357	GT:AD:DP:GQ:PL	0/1:97,23:120:99:186,0,2441	18	0	1	0
chr19	57130072	57130072	C	G	exonic	USP29	.	nonsynonymous SNV	USP29:NM_020903:exon4:c.C1397G:p.P466R	.	425	1089	8	0	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.00401965780093	0.0002	0.000199681	0.0004	0	0.0004	0	0	0.0005	0.0011	0.0002	0.0003558	55	154602	rs137993626	0.0003	0.0003	0.0003	0.0003	0.0045	0.0003	0.0003	0.0032	0.0027	0.0003	0.0003	0.0028	0	0.0001	0.0045	0.0002	0.0006	0.0002	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	2.406e-05	0	0.0001	0.0032	0	0	0.0102	0.0003	0	0.0002	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.995	0.83170	D	0.790253	0.09402	U	0.860501	1	0.08975	N	1.15	0.29295	L	0.68	0.51952	T	-6.2	0.90371	D	0.197	0.21710	-0.8722	0.50364	T	0.267	0.63887	T	10	0.01971358	0.00444	T	0.00402	0.09556	T	0.154	0.40340	.	.	0.68085904921	0.67814	0.12330900992238837	0.12256	0.19388941855	0.21726	0.32505145669	0.14186	T	0.023607	0.17990	T	-0.393816	0.02541	T	-0.491087	0.23277	T	0.178761746818713	0.19157	T	0.372463	0.08834	T	0.2704909	0.50121	0.4116772	0.65392	0.2704909	0.50120	0.4116772	0.65392	-6.422	0.49681	T	.	.	0.152	0.35267	B	.;.	.;.	2.314794	0.29634	18.19	0.99568544827047356	0.72258	0.06963	0.12990	N	AEFBI	0.030620	0.03118	N	-0.0501051249304243	0.39597	2.337711	-0.320258794886277	0.27445	1.52294	7.28932456923628E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.33	2.33	0.27981	0.470000	0.21795	.	.	0.549000	0.26987	0.002000	0.15269	0.000000	0.08366	0.013000	0.09966	0.0:1.0:0.0:0.0	10.753	0.45421	952	0.10565	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.009511	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1706.33	97	chr19	57130072	.	C	G	1706.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.681;DP=1892;ExcessHet=0;FS=2.041;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0.096;SOR=0.542	GT:AD:DP:GQ:PL	0/1:88,65:153:99:1720,0,2607	18	0	1	0
chr19	58053779	58053779	C	T	exonic	ZSCAN1	.	nonsynonymous SNV	ZSCAN1:NM_182572:exon6:c.C955T:p.P319S	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.00536338437415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.970318	0.25710	N	1.365	0.34158	L	1.61	0.28391	T	-7.33	0.94566	D	0.225	0.25253	-0.8601	0.51256	T	0.162	0.49698	T	9	0.4594314	0.59193	T	0.005363	0.13740	T	0.184	0.45763	0.488	0.57257	0.720598499098	0.71813	0.18203116588910356	0.18122	0.658793948642	0.58767	0.276942670345	0.07069	T	0.242449	0.61119	T	-0.190347	0.22207	T	-0.511197	0.21192	T	0.988269329071045	0.78620	D	0.819918	0.47811	T	0.37367648	0.58855	0.25572073	0.51259	0.37367648	0.58856	0.25572073	0.51258	-4.989	0.36720	T	.	.	0.741	0.74667	P	.	.	3.272284	0.44800	22.0	0.99762963807130034	0.85254	0.81429	0.40834	D	AEFDBI	0.296641	0.40643	N	0.115625061416749	0.47191	2.94834	-0.126702382144783	0.34318	1.972682	2.36326821220284E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	1.22	1.22	0.20300	3.338000	0.51846	.	.	0.454000	0.21428	0.758000	0.29220	0.000000	0.08366	0.123000	0.19290	0.0:1.0:0.0:0.0	8.329	0.31336	970	0.06235	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	.	.	.	.	.	.	.	.	0.02632	2333.33	33	chr19	58053779	.	C	T	2333.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.898;DP=795;ExcessHet=0;FS=1.236;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-0.131;SOR=0.665	GT:AD:DP:GQ:PL	0/1:73,88:161:99:2347,0,1883	18	0	1	0
chr20	229587	229587	C	A	exonic	DEFB129	.	nonsynonymous SNV	DEFB129:NM_080831:exon2:c.C368A:p.T123N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.00256840326739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.472e-06	5.472e-06	5.445e-06	5.5e-06	0.0007	2.35e-06	1.7e-06	0.0002	0.0001	0	2.236e-05	0	0	0	0.0007	0	4.967e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.31088	T	0.134	0.34241	T	0.003	0.11197	B	0.009	0.14300	B	0.565395	0.05448	N	1.250940	1	0.08975	N	1.355	0.33814	L	0.94	0.43672	T	-3.25	0.65283	D	0.108	0.09349	-1.0389	0.17648	T	0.056	0.23565	T	10	0.06647387	0.09122	T	0.002568	0.05178	T	0.134	0.36365	0.174	0.08014	0.0297737177859	0.01360	0.170470492625432	0.16967	0.371070480657	0.38610	0.297034859657	0.09961	T	0.039187	0.25102	T	-0.34358	0.05144	T	-0.731305	0.04269	T	0.286457061767578	0.24442	T	0.523848	0.17156	T	0.109523945	0.25893	0.108900666	0.26239	0.109523945	0.25893	0.108900666	0.26238	-4.2	0.26751	T	.	.	0.095	0.15070	B	.	.	-0.299681	0.02620	0.328	0.9277518692965695	0.22289	0.01486	0.04939	N	AEFBI	0.029317	0.02744	N	-1.39682907426005	0.02668	0.1181364	-1.49429267442138	0.02390	0.1098639	0.00422534174072547	0.10464	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.37	-5.25	0.02567	-0.525000	0.06302	-1.361000	0.05622	-0.326000	0.05813	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2417:0.1792:0.2385:0.3406	0.229	0.00165	952	0.10565	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2758.33	37	chr20	229587	.	C	A	2758.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=1261;ExcessHet=0;FS=2.192;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=1.27;SOR=0.854	GT:AD:DP:GQ:PL	0/1:135,106:241:99:2772,0,3663	18	0	1	0
chr20	2483871	2483871	C	T	exonic	ZNF343	.	nonsynonymous SNV	ZNF343:NM_001282498:exon4:c.G820A:p.E274K,ZNF343:NM_001282496:exon6:c.G1090A:p.E364K,ZNF343:NM_001321800:exon6:c.G1090A:p.E364K,ZNF343:NM_001321805:exon6:c.G1087A:p.E363K,ZNF343:NM_024325:exon6:c.G1090A:p.E364K,ZNF343:NM_001282495:exon7:c.G1090A:p.E364K,ZNF343:NM_001282497:exon7:c.G1213A:p.E405K,ZNF343:NM_001321801:exon7:c.G1213A:p.E405K,ZNF343:NM_001321802:exon7:c.G1210A:p.E404K,ZNF343:NM_001321803:exon7:c.G1210A:p.E404K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00155912576372	.	.	3.297e-05	0	8.654e-05	0.0003	0	0	0	0	2.59e-05	4	154602	rs767883222	1.984e-05	1.984e-05	1.906e-05	2.063e-05	0.0003	1.392e-05	1.203e-05	0.0002	0.0002	0	0.0002	0	0.0003	0	0	3.598e-06	1.656e-05	0	7.278e-05	7.243e-05	2.587e-05	0.0001	0.0007	3.998e-05	3.147e-05	0.0004	0.0003	0	0	0.0007	0	0	0	0	0	0	0	0.343	0.12592	T	0.751	0.04790	T	0.066	0.23586	B	0.019	0.18783	B	.	.	.	.	1	0.08975	N	-0.625	0.02162	N	2.5	0.14408	T	-0.69	0.19720	N	0.049	0.05414	-0.9577	0.39608	T	0.013	0.04985	T	9	0.026978284	0.00852	T	0.001559	0.02471	T	0.003	0.00094	0.397	0.42426	0.0482279557977	0.04254	0.022436444128310456	0.02195	0.0921744073843	0.10406	0.326048433781	0.14336	T	0.002496	0.01884	T	-0.607447	0.00131	T	-0.790322	0.02156	T	0.0245517250571622	0.01215	T	0.223478	0.02897	T	0.02026135	0.00578	0.0391276	0.03936	0.02026135	0.00578	0.0391276	0.03936	-5.297	0.40572	T	.	.	0.777	0.76227	P	.;.;.	.;.;.	0.236068	0.06169	2.616	0.91339996048278294	0.20603	0.08532	0.14448	N	AEFDBCI	0.057267	0.10653	N	-1.63467126053778	0.01101	0.04780731	-1.73263039314685	0.01000	0.04482977	0.0325080474736485	0.14057	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.09	-6.18	0.01906	-4.755000	0.00220	-20.000000	0.00162	-0.998000	0.01821	0.000000	0.06391	0.000000	0.08366	0.488000	0.28746	0.1141:0.2781:0.5107:0.0972	5.666	0.16971	900	0.24599	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2971.33	34	chr20	2483871	.	C	T	2971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=880;ExcessHet=0;FS=3.642;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.564;SOR=0.855	GT:AD:DP:GQ:PL	0/1:127,108:235:99:2985,0,3295	18	0	1	0
chr20	3689600	3689600	C	T	exonic	SIGLEC1	.	nonsynonymous SNV	SIGLEC1:NM_001367089:exon19:c.G4997A:p.S1666N,SIGLEC1:NM_023068:exon20:c.G4997A:p.R1666K	.	.	.	.	.	.	.	.	0.9998	0.946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00558120154617	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1388319827	2.114e-06	2.052e-06	4.184e-06	0	2.753e-06	5.6e-07	1.6e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.753e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.18184	T	0.121	0.35840	T	0.02	0.18235	B	0.008	0.13708	B	0.087986	0.20504	N	0.357050	0.677953	0.30305	N	2.005	0.54552	M	1.92	0.23082	T	-0.55	0.16799	N	0.352	0.39356	-1.0761	0.08124	T	0.047	0.19958	T	9	0.19876918	0.35859	T	0.005581	0.14409	T	0.065	0.18881	.	.	0.298056030225	0.29408	0.5648952838145479	0.56416	0.16594407476	0.18725	0.3542316854	0.18543	T	0.157618	0.50029	T	-0.169664	0.25285	T	-0.481487	0.24288	T	0.422787249088287	0.29793	T	0.416558	0.10945	T	0.16884571	0.37366	0.17738004	0.40337	0.16884571	0.37366	0.17738004	0.40336	-5.386	0.40785	T	.	.	0.138	0.30157	B	.	.	4.790482	0.77735	26.8	0.98017328519311553	0.37605	0.69381	0.34165	D	AEFBI	0.410811	0.48154	N	-0.0621639021197246	0.39061	2.297497	0.0468568895962337	0.41920	2.526657	0.134972553247536	0.17164	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.39	4.43	0.52967	2.259000	0.42914	5.435000	0.48604	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.064000	0.16252	0.0:0.9063:0.0:0.0937	10.56	0.44329	711	0.56613	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	960.33	34	chr20	3689600	.	C	T	960.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.908;DP=679;ExcessHet=0;FS=1.111;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.47;ReadPosRankSum=0.352;SOR=0.515	GT:AD:DP:GQ:PL	0/1:19,33:52:99:974,0,515	18	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R,CDC25B:NM_001287518:exon12:c.G1069C:p.G357R,CDC25B:NM_001287522:exon12:c.G883C:p.G295R,CDC25B:NM_021872:exon12:c.G1219C:p.G407R,CDC25B:NM_001287516:exon13:c.G1150C:p.G384R,CDC25B:NM_001287517:exon13:c.G1108C:p.G370R,CDC25B:NM_001287519:exon13:c.G1006C:p.G336R,CDC25B:NM_001287520:exon13:c.G1006C:p.G336R,CDC25B:NM_004358:exon13:c.G1300C:p.G434R,CDC25B:NM_021873:exon13:c.G1342C:p.G448R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4118	3174.68	176	chr20	3803192	.	G	C	3174.68	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-1.235;DP=2216;ExcessHet=17.0548;FS=208.448;InbreedingCoeff=-0.6531;MLEAC=15;MLEAF=0.441;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=2.04;SOR=13.387	GT:AD:DP:GQ:PL	0/1:70,44:126:99:246,0,1310	3	0	14	2
chr20	17643125	17643125	G	A	exonic	RRBP1	.	nonsynonymous SNV	RRBP1:NM_001365613:exon4:c.C1915T:p.P639S,RRBP1:NM_004587:exon4:c.C616T:p.P206S,RRBP1:NM_001042576:exon5:c.C616T:p.P206S	.	424	1087	11	0	0	11	0.00503432	.	.	.	728552	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.0132207433375	0.0020	0.00119808	0.0022	0.0003	0.0030	0	0.0009	0.0033	0.0023	0.0002	0.0021539	333	154602	rs143378274	0.0022	0.0022	0.0023	0.0021	0.0050	0.0021	0.0021	0.0036	0.0031	0.0004	0.0031	0.0081	0	0.0004	0.0050	0.0023	0.0028	0.0003	0.0019	0.0019	0.0020	0.0018	0.0046	0.0017	0.0017	0.0037	0.0034	0.0007	0	0.0046	0.0072	0	0.0003	0.0034	0.0023	0.0028	0.0002	0.178	0.32296	T	0.484	0.18959	T	0.01	0.15535	B	0.005	0.11217	B	0.227983	0.15985	N	0.465175	0.998373	0.44834	D	-0.2	0.04182	N	0.82	0.48142	T	-1.91	0.44471	N	0.226	0.28264	-1.0776	0.07821	T	0.062	0.25708	T	10	0.0039239526	0.00086	T	0.013221	0.32452	T	0.031	0.07369	.	.	0.358134431457	0.35428	0.07527235043713257	0.07463	0.412393024737	0.41979	0.269505441189	0.06076	T	0.101351	0.40803	T	-0.532557	0.00371	T	-0.540494	0.18248	T	0.0102390924461211	0.00139	T	0.639136	0.25234	T	0.018298633	0.00351	0.031990707	0.01867	0.018298633	0.00351	0.031990707	0.01867	-1.269	0.02045	T	.	.	0.063	0.05145	B	.;.;.;.;.	.;.;.;.;.	0.882137	0.12556	9.082	0.96773931413531733	0.31045	0.35115	0.25226	N	AEFBCI	0.357318	0.44839	N	-0.885375518008875	0.11190	0.5386663	-0.891751570331846	0.12288	0.6312676	0.987645813061569	0.31311	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.26	0.925	0.18550	0.452000	0.21508	1.302000	0.25481	0.618000	0.50648	0.039000	0.20931	0.760000	0.26617	0.165000	0.20815	0.2428:0.1542:0.6029:0.0	5.678	0.17032	905	0.23532	.;.;.;.;.	.	.	.	.	.	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	1	0	0.001511	0.000000	0.001362	0.000000	0.000000	0.017241	0.003049	0.000000	0.02632	540.33	34	chr20	17643125	.	G	A	540.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.616;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=0.426;SOR=0.678	GT:AD:DP:GQ:PL	0/1:23,20:43:99:554,0,643	18	0	1	0
chr20	17969913	17969915	TTC	-	exonic	MGME1	.	nonframeshift deletion	MGME1:NM_001310338:exon2:c.54_56del:p.S19del,MGME1:NM_001310339:exon2:c.54_56del:p.S19del,MGME1:NM_001363738:exon2:c.54_56del:p.S19del,MGME1:NM_052865:exon2:c.54_56del:p.S19del	Mitochondrial DNA depletion syndrome 11, Autosomal recessive	431	1088	3	0	0	3	0.00137678	.	.	.	972799	Mitochondrial_DNA_depletion_syndrome_11|not_provided	MONDO:MONDO:0014039,MedGen:C3554462,OMIM:615084,Orphanet:352447|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0002	.	9.926e-05	0	0	0	0	0.0002	0.0022	0	8.41e-05	13	154602	rs766468409	6.5e-05	6.498e-05	5.174e-05	7.839e-05	0.0049	5.429e-05	5.042e-05	0.0035	0.0030	0.0001	4.485e-05	0	0	0	0.0049	4.407e-05	0.0002	1.16e-05	9.192e-05	9.186e-05	6.425e-05	0.0001	0.0004	5.523e-05	4.361e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0.0102	5.88e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005035	0.000000	0.004076	0.020468	0.000000	0.000000	0.003049	0.000000	0.02632	2691.29	33	chr20	17969912	.	TTTC	T	2691.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.583;DP=770;ExcessHet=0;FS=3.457;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.53;ReadPosRankSum=-0.546;SOR=0.43	GT:AD:DP:GQ:PL	0/1:56,69:125:99:2705,0,2123	18	0	1	0
chr20	34260462	34260462	C	T	exonic	ASIP	.	nonsynonymous SNV	ASIP:NM_001385218:exon2:c.C88T:p.L30F,ASIP:NM_001672:exon2:c.C88T:p.L30F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0137117793889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.723e-06	1.375e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.714	0.05452	T	0.379	0.34321	B	0.083	0.29179	B	0.934854	0.08394	N	0.968144	1	0.08975	N	0.805	0.20218	L	1.4	0.33630	T	-1.58	0.38151	N	0.132	0.18649	-1.0335	0.19332	T	0.048	0.20592	T	10	0.119167954	0.22545	T	0.013712	0.33318	T	0.068	0.19811	0.291	0.25241	0.29132392195	0.28731	0.08992441437229987	0.08925	0.297639375691	0.32147	0.288299769163	0.08675	T	0.402832	0.75974	T	-0.258331	0.13097	T	-0.608851	0.12078	T	0.164200022816658	0.18177	T	0.919808	0.70989	D	0.065701455	0.14066	0.068286866	0.14240	0.065701455	0.14066	0.068286866	0.14240	-4.587	0.32008	T	.	.	0.105	0.19800	B	.;.	.;.	1.649900	0.21048	15.03	0.99191528906373205	0.54994	0.04643	0.10312	N	AEFGI	0.036364	0.04834	N	-0.663750718844899	0.17061	0.874721	-0.64276911563716	0.18400	0.9827279	0.821651720226857	0.24535	0.679555	0.55442	0	0.588066	0.40923	0	0.600882	0.32295	2	0.564101	0.26826	0	.	.	5.09	1.94	0.25058	0.610000	0.23950	1.103000	0.24087	0.569000	0.28856	0.462000	0.26659	0.002000	0.18203	0.589000	0.31115	0.0:0.6746:0.0:0.3254	5.939	0.18416	104	0.95701	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	187.33	34	chr20	34260462	.	C	T	187.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.456;DP=782;ExcessHet=0;FS=120.077;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.25;ReadPosRankSum=0.922;SOR=7.167	GT:AD:DP:GQ:PL	0/1:115,35:150:99:201,0,2953	18	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4376.86	158	chr20	34852409	.	G	C	4376.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.129;DP=2851;ExcessHet=31.086;FS=291.473;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=0.306;SOR=13.781	GT:AD:DP:GQ:PL	0/1:108,47:161:99:153,0,2036	2	0	17	0
chr20	36770908	36770908	C	T	exonic	DSN1	.	nonsynonymous SNV	DSN1:NM_001145318:exon2:c.G272A:p.R91Q,DSN1:NM_001145315:exon3:c.G320A:p.R107Q,DSN1:NM_001145316:exon3:c.G320A:p.R107Q,DSN1:NM_024918:exon3:c.G320A:p.R107Q	.	.	.	.	.	.	.	.	.	.	.	3244831	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.244	0.00906169861912	.	.	4.96e-05	0	8.642e-05	0	0	1.504e-05	0	0.0002	3.88e-05	6	154602	rs769936599	6.502e-05	6.498e-05	6.401e-05	6.603e-05	0.0002	5.431e-05	5.044e-05	0.0001	0.0001	5.975e-05	0.0001	0	0	0	0	6.026e-05	4.97e-05	0.0002	4.6e-05	4.597e-05	3.855e-05	5.381e-05	0.0004	2.11e-05	1.527e-05	7.279e-05	3.025e-05	2.414e-05	0	6.549e-05	0	0	0	0	4.41e-05	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000749	0.42006	D	0.156689	0.864996	0.81001	D	1.545	0.39105	L	.	.	.	-3.59	0.69236	D	0.703	0.70878	-0.4842	0.69216	T	0.271	0.64235	T	9	0.4926822	0.61084	T	0.009062	0.23845	T	0.244	0.55061	0.706	0.84236	0.794854992122	0.79294	0.4909761165368834	0.49018	0.965687681766	0.73165	0.395861238241	0.24493	T	0.421647	0.77297	T	-0.0348021	0.46717	T	-0.0510987	0.66948	D	0.768848240375519	0.44370	D	0.90311	0.66064	D	0.6432216	0.75003	0.565278	0.74839	0.6432216	0.75004	0.565278	0.74840	-4.775	0.34823	T	.	.	0.430	0.65001	A	.;.;.;.;.;.	.;.;.;.;.;.	5.234434	0.87868	29.4	0.9995546698748321	0.99975	0.83269	0.42400	D	AEFBHCI	0.600703	0.59323	D	0.584310384307921	0.72196	5.767647	0.596130396847208	0.74660	6.17533	0.999999999999999	0.74766	0.706548	0.73137	0	0.581341	0.33841	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	3.711000	0.54596	7.623000	0.62394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	13.927	0.63474	730	0.54327	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	278.33	34	chr20	36770908	.	C	T	278.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.394;DP=694;ExcessHet=0;FS=38.915;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.76;ReadPosRankSum=-0.328;SOR=5.616	GT:AD:DP:GQ:PL	0/1:56,18:74:99:292,0,1457	18	0	1	0
chr20	37129076	37129076	G	A	exonic	MROH8	.	unknown	UNKNOWN	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00612546320582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.23e-07	6.84e-07	1.632e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	2.274e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.007	0.69154	D	0.993	0.65571	D	0.813	0.58748	P	0.079111	0.21004	N	0.453075	0.82145	0.34782	D	.	.	.	4.42	0.02177	T	-2.19	0.49352	N	0.478	0.51315	-0.4656	0.69878	T	0.269	0.64055	T	10	0.30181515	0.47722	T	0.006125	0.16023	T	0.135	0.36572	0.403	0.43408	0.239305524855	0.23518	.	.	.	.	0.529871582985	0.43017	T	.	.	.	-0.0367999	0.46423	T	-0.290637	0.45707	T	0.967573642730713	0.67954	D	0.793521	0.43550	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.780506	0.54354	23.5	0.99812180103639903	0.89620	0.86796	0.46155	D	AEFDBI	0.578334	0.57958	D	0.385081918130576	0.60613	4.25216	0.454661408249036	0.65017	4.770788	0.987510852579547	0.31283	0.638212	0.43195	0	0.670034	0.63936	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.35	5.35	0.76297	4.409000	0.59524	11.271000	0.91406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	14.552	0.67663	408	0.82256	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	1781.83	36	chr20	37129076	.	G	A	1781.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.59;DP=725;ExcessHet=0.119;FS=3.195;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=0.538;SOR=0.746	GT:AD:DP:GQ:PL	0/1:38,39:77:99:1028,0,884	17	0	2	0
chr20	38217465	38217465	G	A	exonic	KIAA1755	.	nonsynonymous SNV	KIAA1755:NM_001348708:exon11:c.C1642T:p.R548C,KIAA1755:NM_001029864:exon13:c.C2689T:p.R897C	.	.	.	.	.	.	.	.	.	.	.	3455712	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.095	0.0112888287372	7.7e-05	.	2.796e-05	0.0002	0	0	0	2.56e-05	0	0	1.94e-05	3	154602	rs140768307	1.857e-05	1.984e-05	2.598e-05	1.107e-05	0.0004	1.272e-05	1.09e-05	0.0002	0.0002	0.0004	2.271e-05	0	2.547e-05	0	0	9.021e-06	3.329e-05	0	0.0001	0.0001	0.0001	0.0002	0.0005	9.747e-05	8.26e-05	0.0003	0.0003	0.0005	0	0.0001	0	0	0	0	0	0	0	0.041	0.41915	D	0.002	0.79402	D	0.225	0.30426	B	0.028	0.21332	B	0.129139	0.18706	N	0.454684	0.995305	0.42632	D	2.175	0.60977	M	3.19	0.35219	T	-3.22	0.75935	D	0.383	0.42443	-1.0020	0.29342	T	0.079	0.31526	T	10	0.15881857	0.29856	T	0.011289	0.28764	T	0.095	0.27398	.	.	0.277730125212	0.27379	0.26403149292363	0.26316	0.0557504259464	0.06166	0.488211542368	0.37191	T	0.112301	0.42846	T	-0.385966	0.02856	T	-0.438156	0.29014	T	0.165605172514915	0.18276	T	0.839916	0.51465	T	0.12089516	0.28439	0.1350092	0.32337	0.12089516	0.28439	0.1350092	0.32336	-6.556	0.50716	T	.	.	0.184	0.39848	B	.;.	.;.	3.978405	0.58465	24.0	0.99524440938759473	0.69469	0.51741	0.28967	D	AEFDGBCI	0.308126	0.41481	N	-0.0301118032804249	0.40495	2.405846	0.0189871787626592	0.40597	2.425364	0.999999879730767	0.74766	0.600919	0.35232	0	0.59043	0.45803	0	0.478664	0.07449	1	0.620204	0.46100	0	.	.	4.59	2.39	0.28492	1.473000	0.34995	4.075000	0.41695	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1269:0.0:0.6317:0.2414	4.197	0.09906	895	0.25842	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	100.33	33	chr20	38217465	.	G	A	100.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.867;DP=628;ExcessHet=0;FS=20.488;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.18;ReadPosRankSum=0.33;SOR=4.479	GT:AD:DP:GQ:PL	0/1:33,13:46:99:114,0,826	18	0	1	0
chr20	41420810	41420810	T	A	exonic	CHD6	.	nonsynonymous SNV	CHD6:NM_032221:exon31:c.A5825T:p.H1942L	.	416	1042	62	2	0	66	0.0306977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	.	0.0048	0.00259585	0.0051	0.0008	0.0073	0	0.0006	0.0067	0.0143	0.0041	0.0048188	745	154602	rs140143834	0.0048	0.0048	0.0047	0.0049	0.0472	0.0047	0.0046	0.0426	0.0408	0.0022	0.0070	0.0213	2.519e-05	0.0007	0.0472	0.0044	0.0072	0.0040	0.0045	0.0045	0.0044	0.0046	0.0108	0.0042	0.0041	0.0094	0.0089	0.0013	0.0011	0.0108	0.0233	0	0.0003	0.0476	0.0048	0.0076	0.0046	0.011	0.55530	D	0.165	0.30926	T	0.001	0.07471	B	0.002	0.06944	B	0.002783	0.35935	N	0.195101	0.614582	0.30831	N	1.995	0.54099	M	-1.97	0.85173	D	-1.3	0.32590	N	0.592	0.61172	-0.5537	0.66646	T	0.344	0.70948	T	10	0.004806787	0.00102	T	.	.	.	0.257	0.56827	.	.	0.689785631623	0.68712	0.3750919250978012	0.37423	0.189597863758	0.21281	0.446506142616	0.31466	T	0.084022	0.37186	T	-0.282742	0.10380	T	-0.176165	0.56878	T	0.0114341680343454	0.00171	T	0.763224	0.38939	T	0.094280444	0.22162	0.08424599	0.19367	0.094280444	0.22162	0.08424599	0.19367	-2.681	0.07144	T	.	.	0.100	0.17275	B	.	.	2.888150	0.38240	20.7	0.95014432481411215	0.25991	0.90439	0.51616	D	AEFBI	0.097281	0.19624	N	-0.282613491382424	0.29820	1.657095	-0.144698206204059	0.33612	1.924544	0.35311860280928	0.19703	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.86	3.56	0.39892	0.728000	0.25682	4.390000	0.43210	0.665000	0.62972	0.905000	0.31549	1.000000	0.68203	0.914000	0.44937	0.1166:0.0:0.1688:0.7146	8.132	0.30193	922	0.19044	.	.	.	.	.	.	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	0.037764	0.040404	0.054348	0.040936	0.000000	0.051724	0.033537	0.003788	0.05263	3315.83	61	chr20	41420810	.	T	A	3315.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.45;DP=981;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=-0.572;SOR=0.726	GT:AD:DP:GQ:PL	0/1:54,63:117:99:1872,0,1441	17	0	2	0
chr20	44429627	44429627	A	G	exonic	HNF4A	.	nonsynonymous SNV	HNF4A:NM_000457:exon10:c.A1387G:p.I463V,HNF4A:NM_001030003:exon10:c.A1291G:p.I431V,HNF4A:NM_175914:exon10:c.A1321G:p.I441V,HNF4A:NM_178849:exon10:c.A1357G:p.I453V,HNF4A:NM_001258355:exon11:c.A1366G:p.I456V,HNF4A:NM_001287182:exon11:c.A1282G:p.I428V,HNF4A:NM_001287183:exon11:c.A1312G:p.I438V	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	0	1504	16	2	0	20	0.00660502	.	.	.	45009	Maturity_onset_diabetes_mellitus_in_young|not_specified|Monogenic_diabetes|Autosomal_dominant_polycystic_liver_disease|not_provided|Familial_hyperinsulinism|Maturity-onset_diabetes_of_the_young_type_1|Type_2_diabetes_mellitus|Fanconi_renotubular_syndrome_4_with_maturity-onset_diabetes_of_the_young	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924|MedGen:C3661900|MONDO:MONDO:0017182,MedGen:C3888018,Orphanet:276525|MONDO:MONDO:0007452,MedGen:C1852093,OMIM:125850,Orphanet:552|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0014458,MedGen:C4014962,OMIM:616026,Orphanet:93111	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.354	0.0400357000136	0.0003	.	0.0003	0	0.0007	0	0	0.0004	0.0011	0.0001	0.0002652	41	154602	rs147638455	0.0003	0.0003	0.0002	0.0003	0.0114	0.0002	0.0002	0.0092	0.0084	0.0003	0.0006	0.0007	0	0	0.0114	0.0002	0.0007	0.0003	0.0006	0.0006	0.0005	0.0008	0.0008	0.0005	0.0005	0.0003	0.0002	0	0.0582	0.0005	0.0009	0	0	0.0136	0.0003	0.0019	0.0008	0.018	0.53172	D	0.107	0.40747	T	0.225	0.30426	B	0.078	0.28627	B	0.760773	0.09625	N	0.891454	0.999999	0.58761	D	2.045	0.56016	M	-0.61	0.71779	T	-0.23	0.10656	N	0.54	0.76853	-0.6555	0.62473	T	0.317	0.68655	T	10	0.009395719	0.00212	T	0.040036	0.59150	D	0.354	0.67510	.	.	0.942077443982	0.94147	0.22013181744356555	0.21929	0.285152696463	0.30925	0.606351733208	0.53801	T	0.222491	0.70629	T	-0.0971621	0.36896	T	-0.00625752	0.69929	D	0.0827810381089443	0.10339	T	0.861714	0.55578	D	0.09375241	0.22027	0.10567461	0.25409	0.091336444	0.21399	0.1056317	0.25396	-3.058	0.14748	T	.	.	0.065	0.02765	B	.;.;.;.;.	.;.;.;.;.	2.503491	0.32318	19.01	0.99635814627792141	0.76326	0.94383	0.60991	D	AEFDBHCI	0.977155	0.99709	D	0.076654093246981	0.45376	2.795124	0.193130714253283	0.49470	3.149758	0.99999999998337	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.23	5.23	0.72570	7.000000	0.76045	7.973000	0.76046	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.484000	0.28656	1.0:0.0:0.0:0.0	15.264	0.73340	349	0.85513	.;.;.;.;.	.	.	.	.	.	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	0	0	1	0	0.016616	0.010101	0.013587	0.032164	0.050000	0.008621	0.015244	0.011364	0.05263	1302.83	33	chr20	44429627	.	A	G	1302.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.832;DP=743;ExcessHet=0.119;FS=2.826;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=2.11;SOR=0.922	GT:AD:DP:GQ:PL	0/1:47,32:79:99:677,0,1313	17	0	2	0
chr20	51516834	51516834	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1222C:p.G408R,NFATC2:NM_001258292:exon3:c.G1222C:p.G408R,NFATC2:NM_001258294:exon3:c.G625C:p.G209R,NFATC2:NM_001258295:exon3:c.G625C:p.G209R,NFATC2:NM_001258296:exon3:c.G625C:p.G209R,NFATC2:NM_001258297:exon3:c.G625C:p.G209R,NFATC2:NM_012340:exon3:c.G1282C:p.G428R,NFATC2:NM_173091:exon3:c.G1282C:p.G428R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.887	0.291469148357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.619e-05	0.0007	0.0001	7.042e-05	0.0001	8.278e-05	7.817e-05	9.981e-05	9.381e-05	6.002e-05	0	0	5.044e-05	0	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	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	2.9	0.83903	M	-0.72	0.72994	T	-7.31	0.94511	D	0.952	0.97095	0.381	0.88810	D	0.611	0.86246	D	10	0.92848086	0.92191	D	0.291469	0.90578	D	0.887	0.96725	0.754	0.88402	0.90210233382	0.90113	0.8239515636362394	0.82352	1.30562062205	0.83120	0.866135060787	0.92011	D	0.671936	0.90273	D	0.39566	0.89663	D	0.330562	0.89533	D	0.997253000736237	0.91125	D	0.999394	0.99801	D	0.9024346	0.91602	0.87273586	0.93055	0.9024346	0.91603	0.87273586	0.93056	-12.284	0.86643	D	.	.	1.0	0.99952	P	.;.;.;.;.;.	.;.;.;.;.;.	5.540515	0.91959	32	0.99941663280488358	0.99797	0.98728	0.86094	D	AEFDBHI	0.897828	0.84044	D	0.916431156634983	0.92541	11.483	0.851822094425726	0.93121	11.83822	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding 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	.	.	.	.	.	.	.	.	0.3667	1005.35	57	chr20	51516834	.	C	G	1005.35	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-1.047;DP=1441;ExcessHet=8.9063;FS=279.737;InbreedingCoeff=-0.4889;MLEAC=12;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=0.596;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,30:81:99:.:.:148,0,764:.	4	0	11	4
chr20	51523997	51523997	G	A	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon2:c.C184T:p.P62S,NFATC2:NM_001258292:exon2:c.C184T:p.P62S,NFATC2:NM_012340:exon2:c.C244T:p.P82S,NFATC2:NM_173091:exon2:c.C244T:p.P82S	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0191717849542	.	.	2.645e-05	0	0	0	0	1.575e-05	0	0.0002	2.59e-05	4	154602	rs753475209	1.13e-05	1.915e-05	2.801e-06	1.995e-05	0.0007	6.69e-06	5.41e-06	0.0002	0.0001	0	3.188e-05	0	0	0	0.0007	3.655e-06	1.718e-05	7.546e-05	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.006	0.63226	D	0.415	0.32891	T	0.005	0.12996	B	0.01	0.14941	B	0.000460	0.44317	N	0.209202	0.994616	0.23480	N	1.43	0.35840	L	-0.43	0.69657	T	-1.46	0.35792	N	0.239	0.29544	-0.9651	0.38191	T	0.159	0.49279	T	10	0.12795353	0.24336	T	0.019172	0.41459	T	0.094	0.27141	.	.	0.555656803998	0.55224	0.2388836973619077	0.23802	0.384061563188	0.39718	0.347084701061	0.17492	T	0.333371	0.70323	T	-0.253108	0.13719	T	-0.470898	0.25420	T	0.0751288744021716	0.09353	T	0.70443	0.31478	T	0.063954085	0.13519	0.071806364	0.15417	0.063954085	0.13519	0.071806364	0.15417	-3.834	0.21614	T	.	.	0.073	0.05711	B	.;.;.;.	.;.;.;.	2.075293	0.26395	17.10	0.96522715609418808	0.30122	0.94565	0.61579	D	AEFBI	.	.	.	-0.372441755519563	0.26456	1.443956	-0.249170622857099	0.29801	1.672539	0.999836314531824	0.43792	0.562547	0.31514	0	0.653731	0.59785	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	5.58	2.29	0.27658	4.177000	0.58072	5.720000	0.49467	-0.163000	0.11536	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0783:0.1324:0.5155:0.2738	4.382	0.10729	972	0.05671	.;.;.;.	.	.	.	.	.	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	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2060.33	45	chr20	51523997	.	G	A	2060.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.029;DP=773;ExcessHet=0;FS=10.356;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.89;ReadPosRankSum=1.05;SOR=0.646	GT:AD:DP:GQ:PL	0/1:44,78:122:99:2074,0,1043	18	0	1	0
chr20	53966998	53966998	C	T	exonic	BCAS1	.	nonsynonymous SNV	BCAS1:NM_001366295:exon8:c.G1216A:p.E406K,BCAS1:NM_001366296:exon9:c.G1258A:p.E420K,BCAS1:NM_003657:exon9:c.G1258A:p.E420K,BCAS1:NM_001366298:exon10:c.G1393A:p.E465K	.	431	1087	4	0	0	4	0.00183655	.	.	.	3301765	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.00491189695075	0.0005	.	0.0003	9.61e-05	0.0003	0.0002	0	0.0005	0.0011	6.056e-05	0.0002975	46	154602	rs139595442	0.0003	0.0003	0.0003	0.0003	0.0068	0.0003	0.0003	0.0051	0.0045	0.0001	0.0003	0.0009	5.042e-05	0	0.0068	0.0003	0.0004	0.0001	0.0004	0.0004	0.0004	0.0004	0.0002	0.0003	0.0003	0.0001	0.0001	0.0001	0.0352	0.0002	0.0009	0	0	0.0034	0.0002	0.0009	0	0.305	0.14256	T	0.387	0.15650	T	0.014	0.16867	B	0.006	0.12133	B	0.028248	0.25631	N	0.399922	1	0.30199	N	1.91	0.51138	L	3.13	0.08014	T	-2.22	0.49846	N	0.198	0.21839	-1.0342	0.19109	T	0.016	0.06569	T	10	0.0030166805	0.00049	T	0.004912	0.12349	T	0.063	0.18251	.	.	0.186928172975	0.18263	0.0972455507371318	0.09655	0.093218127879	0.10534	0.381559431553	0.22477	T	0.022851	0.17544	T	-0.451118	0.01113	T	-0.5798	0.14563	T	0.0308510421801718	0.02123	T	0.693931	0.30359	T	0.07632773	0.17254	0.10702441	0.25758	0.07632773	0.17254	0.10702441	0.25757	-3.082	0.11090	T	.	.	0.096	0.15520	B	.;.	.;.	1.490042	0.19171	14.13	0.94692582932790836	0.25337	0.08994	0.14836	N	AEFGBI	0.139700	0.26137	N	-0.910206698912035	0.10603	0.5074427	-0.847885945893087	0.13339	0.6913897	0.987309286087262	0.31233	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	4.72	0.59248	1.590000	0.36264	3.941000	0.40603	-0.187000	0.09635	0.008000	0.17931	0.919000	0.28284	0.208000	0.22126	0.0:0.9127:0.0:0.0873	10.780	0.45569	930	0.16408	.;.	.	.	.	.	.	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	0.005539	0.005051	0.008152	0.005848	0.000000	0.017241	0.000000	0.000000	0.02632	2077.33	39	chr20	53966998	.	C	T	2077.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2;DP=798;ExcessHet=0;FS=5.152;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=-0.541;SOR=1.112	GT:AD:DP:GQ:PL	0/1:63,75:138:99:2091,0,1445	18	0	1	0
chr20	62310424	62310424	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon76:c.C10595T:p.T3532I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0862712514321	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1260353715	6.891e-07	1.368e-06	0	1.386e-06	1.179e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.179e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	0.09896	T	0.526	0.10245	T	0.144	0.27697	B	0.022	0.19653	B	0.293401	0.14727	U	0.629846	0.99995	0.19072	N	1.32	0.33002	L	-1.23	0.78860	T	-2.6	0.55983	D	0.252	0.28498	-0.9055	0.47389	T	0.250	0.61958	T	10	0.12562633	0.23875	T	0.086271	0.74702	D	0.213	0.50496	0.492	0.57890	0.85781648375	0.85644	0.4537241325232917	0.45290	.	.	0.448074281216	0.31681	T	0.207334	0.56694	T	-0.00865934	0.50452	T	-0.250215	0.49795	T	0.121613993796768	0.14586	T	0.50475	0.15921	T	0.07153752	0.15846	0.097236216	0.23135	0.07153752	0.15845	0.097236216	0.23135	-5.432	0.41226	T	.	.	0.137	0.29806	B	.	.	1.616122	0.20649	14.85	0.66857069435240357	0.08182	0.14168	0.18259	N	AEFDBHCI	0.078089	0.15749	N	-0.780733435939456	0.13812	0.6832019	-0.76827986487931	0.15274	0.8024847	0.999981094072748	0.51787	0.67177	0.52595	0	0.588066	0.40923	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.15	3.09	0.34677	0.136000	0.15794	3.029000	0.36034	0.674000	0.70861	0.002000	0.15269	0.999000	0.35428	0.031000	0.13245	0.0843:0.1883:0.7273:0.0	8.576	0.32761	779	0.47767	Laminin G domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	1662.83	37	chr20	62310424	.	G	A	1662.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.86;DP=909;ExcessHet=0.119;FS=0.709;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=1.58;SOR=0.619	GT:AD:DP:GQ:PL	0/1:23,35:58:99:1023,0,600	17	0	2	0
chr20	63312891	63312891	A	G	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon16:c.A2033G:p.Y678C	.	432	1074	15	1	0	17	0.00785219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.548	.	0.0035	0.00519169	0.0057	0.0004	0.0138	0	0.0077	0.0098	0.0050	0.0019	0.0030207	467	154602	rs143321165	0.0060	0.0059	0.0061	0.0058	0.0077	0.0059	0.0058	0.0070	0.0067	0.0013	0.0077	0.0017	0	0.0031	0.0063	0.0069	0.0054	0.0015	0.0049	0.0049	0.0050	0.0048	0.0116	0.0046	0.0045	0.0102	0.0096	0.0014	0	0.0116	0.0006	0	0.0024	0	0.0066	0.0128	0.0012	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.002333	0.36766	N	0.234827	0.865874	0.35472	D	3.56	0.93364	H	-1.18	0.78314	T	-7.8	0.95924	D	0.825	0.82057	0.239	0.86565	D	0.451	0.78508	T	10	0.022454858	0.00561	T	.	.	.	0.548	0.81252	.	.	0.886093956355	0.88497	0.6599275125796334	0.65929	0.279783844129	0.30462	0.777445554733	0.78543	T	0.326454	0.69707	T	-0.138765	0.30086	T	0.033025	0.72474	D	0.122558441713475	0.14678	T	0.79772	0.44184	T	0.6529499	0.75521	0.5694097	0.75069	0.6529499	0.75523	0.5694097	0.75070	-7.842	0.59988	D	.	.	0.414	0.62572	A	.;.	.;.	3.632673	0.51469	23.1	0.99628888972054674	0.75898	0.60905	0.31330	D	AEFDBI	0.291155	0.40236	N	0.221844767511009	0.52260	3.401172	0.0283537079105554	0.41037	2.458795	0.999993296026594	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.25	4.25	0.49658	4.146000	0.57840	6.861000	0.56763	0.567000	0.28720	1.000000	0.71638	1.000000	0.68203	0.251000	0.23288	1.0:0.0:0.0:0.0	9.82	0.40045	.	.	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010780	0.010309	0.015193	0.009091	0.000000	0.027273	0.000000	0.007692	0.02632	1087.33	42	chr20	63312891	.	A	G	1087.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.803;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.76;ReadPosRankSum=0.672;SOR=0.659	GT:AD:DP:GQ:PL	0/1:28,41:69:99:1101,0,678	18	0	1	0
chr20	63564654	63564654	G	C	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_033405:exon3:c.C2461G:p.R821G,HELZ2:NM_001037335:exon9:c.C4168G:p.R1390G	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0256137295217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.052e-07	6.84e-07	0	1.427e-06	3.078e-05	0	0	.	.	3.078e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.005	0.74150	D	0.996	0.77913	D	0.911	0.73362	D	0.025131	0.26142	N	0.403964	0.937636	0.26885	N	2.645	0.77386	M	1.08	0.39401	T	-5.62	0.86758	D	0.465	0.50146	-0.8971	0.48283	T	0.202	0.55905	T	10	0.74028164	0.74908	D	0.025614	0.48579	D	0.151	0.39764	0.735	0.86806	0.543952843248	0.54050	0.5526502314511533	0.55191	0.819905421968	0.67108	0.534562945366	0.43677	T	0.266773	0.63874	T	-0.0681965	0.41614	T	-0.335736	0.40826	T	0.899427533149719	0.55172	D	0.690631	0.30012	T	0.73660123	0.80098	0.66128784	0.80152	0.73660123	0.80100	0.66128784	0.80153	-7.327	0.57808	T	.	.	0.208	0.56599	B	.;.	.;.	2.929942	0.38926	20.8	0.99745460578897904	0.83852	0.39466	0.26219	N	AEFGBCI	0.160820	0.28680	N	0.183597347305235	0.50411	3.231388	0.0309064298193218	0.41158	2.46806	0.156819932240576	0.17530	0.634777	0.41761	0	0.643519	0.57511	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.84	2.71	0.31092	1.018000	0.29604	2.852000	0.35147	0.618000	0.50648	0.711000	0.28732	1.000000	0.68203	0.019000	0.11356	0.1064:0.0:0.4551:0.4384	5.813	0.17740	.	.	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	3342.79	77	chr20	63564654	.	G	C	3342.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.431;DP=1086;ExcessHet=0.3672;FS=18.943;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=-0.148;SOR=0.196	GT:AD:DP:GQ:PL	0/1:24,37:61:99:1073,0,592	16	0	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	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	.	.	.	.	.	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	70838.3	366	chr21	13610565	.	G	A	70838.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3;DP=4790;ExcessHet=8.2795;FS=1.103;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-8.431;QD=15.65;ReadPosRankSum=0.808;SOR=0.764	GT:AD:DP:GQ:PL	0/1:143,120:263:99:3177,0,3509	3	3	13	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.;.	.	.	.	.	.	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	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.5	51549.3	311	chr21	13610631	.	A	G	51549.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.175;DP=3934;ExcessHet=8.2795;FS=4.175;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=50.54;MQRankSum=-13.57;QD=13.93;ReadPosRankSum=0.36;SOR=1.018	GT:AD:DP:GQ:PL	0/1:141,91:232:99:2337,0,3825	3	3	13	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5526	47375.2	161	chr21	13641414	.	A	G	47375.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-2.158;DP=2954;ExcessHet=3.6106;FS=1.192;InbreedingCoeff=-0.1709;MLEAC=21;MLEAF=0.553;MQ=58.14;MQRankSum=-1.219;QD=17.04;ReadPosRankSum=0.529;SOR=0.59	GT:AD:DP:GQ:PL	0/1:81,104:185:99:2407,0,2007	3	5	11	0
chr21	38818484	38818484	C	A	exonic	ETS2	.	nonsynonymous SNV	ETS2:NM_005239:exon7:c.C649A:p.L217I,ETS2:NM_001256295:exon8:c.C1069A:p.L357I	.	421	1086	14	1	0	16	0.00731261	.	.	.	717205	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.128	.	0.0082	0.00339457	0.0073	0.0014	0.0054	0	0.0024	0.0113	0.0088	0.0016	0.0070439	1089	154602	rs61735785	0.0095	0.0095	0.0098	0.0092	0.0128	0.0093	0.0093	0.0108	0.0107	0.0013	0.0061	0.0137	0	0.0034	0.0128	0.0109	0.0102	0.0015	0.0080	0.0080	0.0085	0.0074	0.0121	0.0076	0.0074	0.0114	0.0111	0.0017	0.0998	0.0075	0.0164	0	0.0021	0.0170	0.0121	0.0095	0.0021	0.583	0.59928	T	0.343	0.22694	T	0.908	0.56202	P	0.277	0.47795	B	0.084067	0.02385	N	2.205300	0.994471	0.42296	D	2.32	0.66415	M	2.48	0.41392	T	-0.36	0.14193	N	0.4	0.44187	-0.8262	0.53544	T	0.122	0.42336	T	10	0.005959183	0.00134	T	.	.	.	0.128	0.35103	.	.	0.469009519116	0.46530	0.5800921711861871	0.57938	0.351789939051	0.37014	0.452042520046	0.32223	T	0.377928	0.74101	T	-0.475445	0.00787	T	-0.445332	0.28213	T	0.0194060962257557	0.00645	T	0.646135	0.25753	T	0.08174536	0.18799	0.045773793	0.06232	0.08174536	0.18798	0.045773793	0.06231	-4.283	0.27938	T	.	.	0.077	0.06295	B	.;.;.	.;.;.	1.887303	0.23973	16.22	0.98906433892934353	0.48290	0.92726	0.56396	D	AEFDGBCI	0.570496	0.57485	D	0.108724464065966	0.46869	2.920821	0.120562674685189	0.45603	2.820458	0.999999997871774	0.74766	0.67177	0.52595	0	0.653731	0.59785	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	6.16	5.28	0.74118	2.587000	0.45793	4.072000	0.41672	0.599000	0.40250	0.982000	0.35529	0.999000	0.35428	0.045000	0.14751	0.1305:0.7322:0.1373:0.0	12.211	0.53688	566	0.70798	.;.;.	.	.	.	.	.	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	0.007553	0.010101	0.009511	0.002924	0.000000	0.017241	0.012195	0.000000	0.02632	2581.33	37	chr21	38818484	.	C	A	2581.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.892;DP=885;ExcessHet=0;FS=1.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=1.99;SOR=0.562	GT:AD:DP:GQ:PL	0/1:106,102:208:99:2595,0,2578	18	0	1	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H,C2CD2:NM_015500:exon4:c.G523C:p.D175H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3889	2032.79	96	chr21	41918930	.	C	G	2032.79	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.78;DP=1565;ExcessHet=17.0548;FS=105.468;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=0.897;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,11:106:99:0|1:41918930_C_G:118,0,3867:41918930	4	0	14	1
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D,C2CD2:NM_015500:exon4:c.G522C:p.E174D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3889	2022.74	96	chr21	41918931	.	C	G	2022.74	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.847;DP=1558;ExcessHet=17.0548;FS=106.404;InbreedingCoeff=-0.6166;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.13;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,11:107:99:0|1:41918930_C_G:115,0,3883:41918930	4	0	14	1
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q,C2CD2:NM_015500:exon4:c.G520C:p.E174Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3684	1945.18	98	chr21	41918933	.	C	G	1945.18	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.313;DP=1548;ExcessHet=17.0548;FS=103.494;InbreedingCoeff=-0.5813;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.61;ReadPosRankSum=1.16;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,11:106:99:0|1:41918930_C_G:118,0,3847:41918930	5	0	14	0
chr21	41918935	41918935	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53C:p.R18T,C2CD2:NM_015500:exon4:c.G518C:p.R173T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00493845236522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.15047	T	0.346	0.17696	T	0.651	0.40707	P	0.15	0.34161	B	0.052137	0.22921	N	0.460473	1	0.08975	N	.	.	.	1.92	0.23082	T	-2.45	0.53577	N	0.252	0.28498	-1.0300	0.20454	T	0.042	0.18118	T	10	0.07400718	0.11258	T	0.004938	0.12442	T	0.039	0.10176	0.274	0.22528	0.158396225186	0.15383	0.2792123094980505	0.27834	0.43111718306	0.43331	0.306925415993	0.11442	T	0.034186	0.23222	T	-0.204236	0.20195	T	-0.531148	0.19171	T	0.249620780348778	0.22856	T	0.616438	0.23595	T	0.05097029	0.09291	0.045770753	0.06232	0.05097029	0.09291	0.045770753	0.06231	-2.512	0.11262	T	.	.	0.089	0.12276	B	.;.	.;.	0.500997	0.08699	5.474	0.53906906178001035	0.05031	0.63413	0.32082	D	AEFGBCI	0.063035	0.12155	N	-0.949612951554288	0.09701	0.4602946	-1.04496436725723	0.08812	0.4351327	0.925456163519065	0.26816	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	0.664	0.17060	0.183000	0.16729	-0.306000	0.10077	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.5278:0.1455:0.3267	4.864	0.12958	985	0.02828	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2368	1392.83	97	chr21	41918935	.	C	G	1392.83	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.202;DP=1325;ExcessHet=5.3738;FS=99.62;InbreedingCoeff=-0.3104;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=1.47;SOR=9.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,11:106:99:0|1:41918930_C_G:118,0,3847:41918930	10	0	9	0
chr21	42111559	42111559	C	A	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001199527:exon11:c.C2121A:p.D707E,UMODL1:NM_173568:exon11:c.C2337A:p.D779E,UMODL1:NM_001004416:exon12:c.C1953A:p.D651E,UMODL1:NM_001199528:exon12:c.C1737A:p.D579E	.	426	1020	74	2	0	78	0.0368272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0048	0.00459265	0.0083	0.0012	0.0045	0	0.0023	0.0080	0.0056	0.0233	0.0075549	1168	154602	rs140135030	0.0070	0.0070	0.0063	0.0077	0.0354	0.0069	0.0068	0.0314	0.0299	0.0009	0.0054	0.0232	5.039e-05	0.0014	0.0354	0.0057	0.0088	0.0249	0.0054	0.0054	0.0051	0.0057	0.0188	0.0051	0.0050	0.0157	0.0146	0.0011	0	0.0082	0.0199	0	0.0007	0.0204	0.0067	0.0081	0.0188	0.325	0.27194	T	0.733	0.12142	T	0.187	0.31319	B	0.08	0.28873	B	0.185998	0.03216	N	1.688570	1	0.08975	N	1.5	0.37844	L	-0.53	0.70833	T	-0.8	0.22078	N	0.07	0.12055	-0.9874	0.33249	T	0.137	0.45432	T	10	0.002900362	0.00046	T	.	.	.	0.025	0.05312	0.13	0.03494	0.265010934533	0.26120	0.09560597137393033	0.09492	0.313514092549	0.33644	0.258530199528	0.04717	T	0.004089	0.03502	T	-0.549777	0.00293	T	-0.544907	0.17817	T	0.00342129005796419	0.00036	T	0.59884	0.23175	T	0.059739888	0.12177	0.045058846	0.05978	0.059739888	0.12177	0.045058846	0.05978	-2.767	0.07883	T	.	.	0.147	0.50871	B	.;.;.;.	.;.;.;.	-0.189392	0.03145	0.508	0.76817094624353499	0.11621	0.04875	0.10616	N	AEFDBHCI	0.102208	0.20509	N	-0.986139826949741	0.08899	0.4190532	-1.0491067709566	0.08725	0.4304242	0.996676952249143	0.34917	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.29	0.034	0.13502	-0.668000	0.05369	-1.372000	0.05595	0.518000	0.23583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5592:0.1545:0.2863	5.142	0.14292	981	0.03995	.;.;.;.	.	.	.	.	.	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	0.032226	0.035354	0.020380	0.023392	0.000000	0.043103	0.039634	0.049242	0.05263	3873.83	42	chr21	42111559	.	C	A	3873.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.54;DP=2344;ExcessHet=0.119;FS=0.9;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.186;SOR=0.619	GT:AD:DP:GQ:PL	0/1:77,65:142:99:1875,0,2279	17	0	2	0
chr21	44406003	44406003	C	T	exonic	TRPM2	.	nonsynonymous SNV	TRPM2:NM_001320350:exon18:c.C2756T:p.T919M,TRPM2:NM_001320351:exon18:c.C2756T:p.T919M,TRPM2:NM_003307:exon18:c.C2756T:p.T919M	.	408	1111	3	0	0	3	0.00134831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	0.252531254658	.	.	5.017e-05	0	0	0	0.0002	4.596e-05	0	0.0001	3.88e-05	6	154602	rs141832926	2.884e-05	3.078e-05	2.871e-05	2.898e-05	8.115e-05	2.16e-05	1.915e-05	3.765e-05	2.662e-05	0	2.237e-05	0	5.039e-05	0	0	2.609e-05	4.973e-05	8.115e-05	3.94e-05	4.593e-05	3.855e-05	4.028e-05	0.0002	1.714e-05	1.129e-05	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0.0002	0.069	0.35537	T	0.059	0.46406	T	0.999	0.77913	D	0.953	0.69275	D	0.002017	0.37457	N	0.220091	0.997857	0.45440	D	2.91	0.84121	M	-0.29	0.67712	T	-2.37	0.52289	N	0.633	0.67304	-0.2874	0.75337	T	0.420	0.76563	T	10	0.67717254	0.71061	D	0.252531	0.89176	D	0.437	0.74164	0.526	0.63115	0.593486797142	0.59025	0.6710943342576543	0.67047	0.606375499986	0.55488	0.752087652683	0.74754	T	0.720838	0.92109	D	-0.08519	0.38866	T	-0.157492	0.58576	T	0.559346795082092	0.34831	D	0.817618	0.49766	T	0.23553692	0.46390	0.3244897	0.58372	0.23553692	0.46390	0.3244897	0.58372	-9.544	0.71132	D	.	.	0.116	0.23605	B	.;.;.;.	.;.;.;.	4.081807	0.60724	24.3	0.99854159990350855	0.93279	0.88661	0.48694	D	AEFDBI	0.369596	0.45627	N	0.3255150194027	0.57460	3.913558	0.20078199713918	0.49890	3.187032	0.30151192149142	0.19194	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	4.16	2.3	0.27735	1.494000	0.35225	0.946000	0.22888	0.564000	0.28548	0.755000	0.29187	0.404000	0.24726	0.732000	0.35165	0.0:0.826:0.0:0.174	9.813	0.40005	846	0.36215	Ion transport domain;Ion transport domain;Ion transport 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	.	.	.	.	.	.	.	.	0.02632	979.33	43	chr21	44406003	.	C	T	979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.137;SOR=0.752	GT:AD:DP:GQ:PL	0/1:45,38:83:99:993,0,1055	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	0.002114	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.07895	6435.79	37	chr21	44540050	.	A	G	6435.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.924;DP=1103;ExcessHet=0.3672;FS=1.739;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=59.86;MQRankSum=-0.951;QD=13.72;ReadPosRankSum=-0.222;SOR=0.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,87:163:99:.:.:2369,0,2125:.	16	0	3	0
chr21	44666834	44666834	C	T	exonic	KRTAP12-2	.	nonsynonymous SNV	KRTAP12-2:NM_181684:exon1:c.G53A:p.S18N	.	430	1065	27	0	0	27	0.0125174	.	.	.	2821845	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.056	0.00279965897282	0.0009	0.000998403	0.0015	0	0.0004	0	0	0.0012	0.0023	0.0060	0.0001153	3	26028	rs143686476	0.0012	0.0012	0.0010	0.0014	0.0102	0.0011	0.0011	0.0082	0.0074	0.0003	0.0006	7.695e-05	2.525e-05	0	0.0102	0.0009	0.0018	0.0061	0.0008	0.0009	0.0008	0.0008	0.0044	0.0007	0.0007	0.0029	0.0025	0.0001	0	0.0008	0	0	0	0	0.0013	0.0009	0.0044	0.007	0.59928	D	0.007	0.69154	D	0.802	0.45105	P	0.267	0.39770	B	.	.	.	.	1	0.08975	N	2.6	0.76081	M	4.06	0.03063	T	-2.32	0.51478	N	0.216	0.24135	-1.0601	0.11731	T	0.021	0.09056	T	9	0.0064796507	0.00147	T	0.003	0.05840	T	0.056	0.15993	.	.	0.3085936734	0.30458	0.03833993704929642	0.03779	0.17694831345	0.19912	0.28999209404	0.08921	T	0.084317	0.37250	T	-0.651385	0.00071	T	-0.705834	0.05512	T	0.0356965933962838	0.02927	T	0.387161	0.09535	T	0.15285218	0.34677	0.12656856	0.30480	0.15285218	0.34676	0.12656856	0.30479	-8.93	0.67245	D	.	.	0.224	0.45569	B	.	.	0.839474	0.12109	8.663	0.94844240990002304	0.25637	0.06805	0.12829	N	AEFDBHCI	0.033163	0.03882	N	-0.434545504500228	0.24268	1.309094	-0.683018874357377	0.17385	0.9241925	0.104310765254257	0.16471	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.64	-0.657	0.10858	-0.514000	0.06382	-2.835000	0.03313	0.505000	0.23025	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.2521:0.216:0.5319:0.0	7.286	0.25516	.	.	.	.	.	.	.	.	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	0.009063	0.000000	0.009511	0.002924	0.000000	0.000000	0.021341	0.011364	0.02632	3033.33	252	chr21	44666834	.	C	T	3033.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.4;DP=3801;ExcessHet=0;FS=5.09;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=-1.043;QD=13.98;ReadPosRankSum=-0.536;SOR=0.428	GT:AD:DP:GQ:PL	0/1:114,103:217:99:3047,0,3355	18	0	1	0
chr21	45267554	45267554	G	A	exonic	POFUT2	.	nonsynonymous SNV	POFUT2:NM_015227:exon8:c.C1172T:p.S391L	.	429	1062	31	0	0	31	0.0143852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0099	0.0105831	0.0095	0.0115	0.0063	0.0006	0.0015	0.0095	0.0111	0.0185	0.0092237	1426	154602	rs115237543	0.0088	0.0088	0.0084	0.0092	0.0182	0.0087	0.0086	0.0174	0.0171	0.0104	0.0067	0.0080	0.0008	0.0022	0.0114	0.0087	0.0103	0.0182	0.0088	0.0088	0.0092	0.0084	0.0199	0.0084	0.0082	0.0167	0.0155	0.0105	0.0011	0.0062	0.0066	0.0019	0.0026	0.0272	0.0090	0.0123	0.0199	0.494	0.07895	T	0.031	0.53788	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	2.04	0.00388	N	0.173	0.18512	-1.0652	0.10502	T	0.050	0.21456	T	7	0.0031752586	0.00053	T	.	.	.	0.020	0.03691	.	.	0.0920862733494	0.08535	.	.	.	.	.	.	.	.	.	.	-0.72212	0.00027	T	-0.795116	0.02027	T	2.68504318228224e-05	0.00000	T	0.374863	0.08927	T	.	.	.	.	.	.	.	.	-3.148	0.11855	T	.	.	0.099	0.16756	B	.	.	-0.274959	0.02728	0.361	0.78622477381966449	0.12381	0.01346	0.04623	N	AEFDGBI	0.037692	0.05221	N	-1.54895673051367	0.01541	0.06730489	-1.70822552240981	0.01102	0.04948687	0.999979400801405	0.50053	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	1.42	-2.83	0.05425	-0.477000	0.06663	-0.957000	0.06793	-2.791000	0.00187	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1714:0.5814:0.2472:0.0	5.588	0.16567	929	0.16858	.	.	.	.	.	rs115237543	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	0.024169	0.015152	0.020380	0.020468	0.000000	0.043103	0.036585	0.018939	0.02632	3644.33	34	chr21	45267554	.	G	A	3644.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.56;DP=922;ExcessHet=0;FS=0.917;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.33;SOR=0.781	GT:AD:DP:GQ:PL	0/1:137,139:276:99:3658,0,3157	18	0	1	0
chr21	45532132	45532132	G	A	exonic	SLC19A1	.	nonsynonymous SNV	SLC19A1:NM_001205207:exon2:c.C86T:p.T29M,SLC19A1:NM_001205206:exon3:c.C206T:p.T69M,SLC19A1:NM_001352511:exon3:c.C206T:p.T69M,SLC19A1:NM_001352512:exon3:c.C206T:p.T69M,SLC19A1:NM_194255:exon3:c.C206T:p.T69M	.	.	.	.	.	.	.	.	.	.	.	3477290	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.396	0.248250166827	.	.	8.795e-06	0	0	0	0	1.585e-05	0	0	2.59e-05	4	154602	rs770520822	4.139e-06	4.104e-06	2.74e-06	5.56e-06	2.533e-05	1.49e-06	9.8e-07	8.5e-07	5.7e-07	0	2.275e-05	0	2.533e-05	0	0	3.622e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.33753	T	0.226	0.25591	T	0.954	0.54400	P	0.593	0.50536	P	0.135243	0.18488	N	0.562275	0.999999	0.08975	N	1.765	0.45800	L	-2.07	0.85943	D	-1.7	0.54217	N	0.143	0.19055	-0.1974	0.77738	T	0.560	0.83989	D	10	0.37366253	0.53667	T	0.24825	0.89002	D	0.396	0.71084	0.501	0.59304	0.734064782989	0.73169	0.4361237176515991	0.43529	0.828993605942	0.67545	0.32613581419	0.14349	T	0.242706	0.62192	T	-0.0932793	0.37533	T	-0.199308	0.54712	T	0.117275467012961	0.14160	T	0.757724	0.50060	T	0.021738866	0.00792	0.06903686	0.14494	0.021738866	0.00792	0.06903686	0.14494	-9.651	0.86435	D	.	.	0.076	0.18580	B	.;.;.;.;.;.	.;.;.;.;.;.	2.214974	0.28262	17.74	0.99131189352828808	0.53275	0.13742	0.18026	N	AEFDBHCI	0.065451	0.12765	N	-0.644791949094742	0.17612	0.9077415	-0.875590381512957	0.12673	0.6533044	0.998827005342985	0.37755	0.706548	0.73137	0	0.702456	0.74545	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	4.7	-2.63	0.05775	0.830000	0.27115	-0.310000	0.10046	0.576000	0.29215	0.519000	0.27104	0.000000	0.08366	0.864000	0.41028	0.2619:0.0:0.7381:0.0	11.719	0.50938	604	0.67577	.;.;.;.;.;.	.	.	.	.	.	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	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	38.33	99	chr21	45532132	.	G	A	38.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.002;DP=1304;ExcessHet=0;FS=51.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=1.64;SOR=5.994	GT:AD:DP:GQ:PL	0/1:95,19:114:52:52,0,2304	18	0	1	0
chr21	46265445	46265445	G	A	exonic	MCM3AP	.	nonsynonymous SNV	MCM3AP:NM_003906:exon12:c.C3110T:p.A1037V	.	415	1106	1	0	0	1	0.000451875	.	.	.	1490458	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00365388245531	0.0002	.	3.339e-05	0.0003	0	0	0.0002	0	0	0	3.23e-05	5	154602	rs150103441	4.515e-05	4.515e-05	3.54e-05	5.501e-05	0.0003	3.641e-05	3.322e-05	0.0002	0.0001	0.0003	0	0	0	9.366e-05	0	3.687e-05	0.0001	3.478e-05	0.0001	0.0001	0.0001	0.0001	0.0003	8.163e-05	6.72e-05	0.0002	0.0001	0.0003	0	0	0	0	9.418e-05	0	8.821e-05	0	0	0.402	0.10412	T	0.267	0.22561	T	0.001	0.07471	B	0.0	0.01387	B	0.000541	0.00634	N	2.729430	1	0.08975	N	-0.29	0.03673	N	3.85	0.03650	T	0.54	0.02764	N	0.075	0.05037	-0.9719	0.36798	T	0.009	0.03054	T	10	0.032916605	0.01455	T	0.003654	0.08402	T	0.023	0.04649	.	.	0.102598925029	0.09809	0.16515060430191142	0.16435	0.121108408864	0.13643	0.426903009415	0.28785	T	0.062229	0.31862	T	-0.639599	0.00084	T	-0.826515	0.01325	T	0.00581890007687215	0.00064	T	0.374563	0.08910	T	0.010447457	0.00007	0.023718096	0.00385	0.010447457	0.00007	0.023718096	0.00385	-4.241	0.27341	T	.	.	0.07	0.03479	B	.;.	.;.	-0.722359	0.01269	0.066	0.74468096046889176	0.10706	0.09153	0.14966	N	AEFBCI	0.024390	0.01504	N	-1.52904655328586	0.01661	0.07266618	-1.67214385835862	0.01266	0.05706139	0.999816025847553	0.43459	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.1	-8.2	0.00918	-0.164000	0.09972	-5.992000	0.01530	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.5193:0.2171:0.1541:0.1094	2.970	0.05560	952	0.10565	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2851.33	37	chr21	46265445	.	G	A	2851.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.829;DP=837;ExcessHet=0;FS=6.895;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-0.109;SOR=0.602	GT:AD:DP:GQ:PL	0/1:90,112:202:99:2865,0,1947	18	0	1	0
chr21	46411265	46411265	T	C	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon28:c.T4838C:p.L1613S,PCNT:NM_006031:exon28:c.T5192C:p.L1731S	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2058246	not_provided|PCNT-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.125	0.00969689088481	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160600323	3.42e-06	3.42e-06	1.361e-06	5.5e-06	2.319e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	1.799e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.984	0.76113	D	0.020193	0.27093	N	0.000000	1	0.08975	N	2.455	0.71248	M	4.24	0.02590	T	-4.75	0.80256	D	0.688	0.69387	-1.1133	0.02801	T	0.036	0.15553	T	10	0.7046599	0.72661	D	0.009697	0.25336	T	0.125	0.34456	0.225	0.14960	0.670955036297	0.66817	0.4028187737648463	0.40197	0.453830377377	0.45067	0.524197757244	0.42218	T	0.345388	0.71378	T	-0.115733	0.33822	T	-0.307165	0.43963	T	0.960262477397919	0.65757	D	0.667233	0.27634	T	0.24153152	0.47070	0.37862542	0.62936	0.24153152	0.47070	0.37862542	0.62936	-8.977	0.67549	D	.	.	0.666	0.71562	P	.	.	3.603348	0.50905	23.0	0.99733205162941208	0.82904	0.43818	0.27182	N	AEFDBI	0.111385	0.22054	N	0.255414404528892	0.53905	3.55776	0.0815723122984779	0.43621	2.660201	0.999997865954889	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	3.427000	0.52552	7.719000	0.67224	0.665000	0.62972	0.647000	0.28146	0.992000	0.31684	0.026000	0.12556	0.0:0.0:0.0:1.0	13.577	0.61343	976	0.04745	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	3793.33	33	chr21	46411265	.	T	C	3793.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=956;ExcessHet=0;FS=0.856;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=1.27;SOR=0.762	GT:AD:DP:GQ:PL	0/1:171,146:317:99:3807,0,4378	18	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	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	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.7632	70360.4	209	chr22	18925165	.	A	G	70360.4	.	AC=29;AF=0.763;AN=38;BaseQRankSum=-1.068;DP=3050;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.272;MLEAC=29;MLEAF=0.763;MQ=60;MQRankSum=0;QD=24.25;ReadPosRankSum=0.274;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,160:160:99:.:.:5089,480,0:.	2	12	5	0
chr22	18925695	18925695	A	T	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon3:c.T186A:p.D62E,LOC102724788:NM_001368249:exon3:c.T510A:p.D170E,LOC102724788:NM_001368250:exon3:c.T186A:p.D62E,PRODH:NM_016335:exon3:c.T510A:p.D170E	.	0	1515	7	0	0	7	0.00230491	.	.	.	1931630	Proline_dehydrogenase_deficiency	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.010	0.0357161487863	.	0.000199681	0.0002	0	0	0.0028	0	6.099e-05	0	6.068e-05	0.000194	30	154602	rs200757095	0.0008	0.0005	0.0007	0.0008	0.0077	0.0006	0.0005	0.0055	0.0047	0	0	0	0.0077	0	0	5.075e-05	0.0004	0.0002	0	9.41e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.727	0.04328	T	0.74	0.04982	T	0.0	0.02946	B	0.0	0.01387	B	0.011332	0.29573	N	0.341756	0.989119	0.24334	N	.	.	.	-0.89	0.74793	T	-0.43	0.14390	N	0.12	0.11054	-1.0203	0.23616	T	0.041	0.17573	T	10	0.005792469	0.00129	T	0.035716	0.56527	D	0.116	0.32463	0.204	0.11936	0.0482279557977	0.04254	0.22415713213029392	0.22330	0.257885109181	0.28347	0.399265885353	0.24966	T	0.002533	0.01924	T	-0.515966	0.00464	T	-0.516977	0.20600	T	0.00873522245440298	0.00107	T	0.390061	0.12012	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.14247	B	.;.;.;.;.	.;.;.;.;.	-0.946092	0.00851	0.030	0.85701183413282767	0.16058	0.11132	0.16429	N	AEFDBI	0.231706	0.35489	N	-0.800026563633427	0.13309	0.6547615	-0.853719390343438	0.13198	0.683372	0.99956867451738	0.40425	0.722319	0.85440	0	0.610034	0.51514	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	4.79	-3.18	0.04867	-1.704000	0.01999	-2.473000	0.03711	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.524000	0.29567	0.3109:0.3019:0.2626:0.1246	1.448	0.02224	929	0.16858	.;.;.;.;.	.	.	.	.	.	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	1	0	.	.	.	.	.	.	.	.	0.02632	1263.33	38	chr22	18925695	.	A	T	1263.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.229;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=0.715;SOR=0.618	GT:AD:DP:GQ:PL	0/1:32,49:81:99:1277,0,797	18	0	1	0
chr22	19233448	19233448	G	T	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon8:c.C1342A:p.L448I,CLTCL1:NM_007098:exon8:c.C1342A:p.L448I	.	423	1094	5	0	0	5	0.00227998	.	.	.	3204498	CLTCL1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.085	.	8.2e-05	0.0105831	0.0037	0.0001	0.0004	0.0463	0	9.202e-05	0.0046	0.0026	0.003467	536	154602	rs76099251	0.0016	0.0016	0.0015	0.0017	0.0488	0.0016	0.0016	0.0469	0.0462	0	0.0003	3.829e-05	0.0488	1.873e-05	0.0007	7.646e-05	0.0019	0.0028	0.0015	0.0015	0.0011	0.0019	0.0382	0.0013	0.0013	0.0338	0.0321	2.406e-05	0	0.0003	0	0.0382	0	0	7.351e-05	0	0.0037	0.116	0.28395	T	0.125	0.35330	T	0.049	0.36353	B	0.209	0.42432	B	0.001298	0.39521	N	0.105052	0.994216	0.42201	D	1.335	0.33326	L	1.77	0.25841	T	-1.52	0.36980	N	0.425	0.48504	-1.0930	0.05051	T	0.009	0.03359	T	10	0.0054974854	0.00121	T	.	.	.	0.085	0.24743	.	.	0.144782658237	0.14088	0.3090783093455225	0.30820	.	.	0.559965252876	0.47263	T	0.139469	0.47351	T	-0.522762	0.00424	T	-0.490831	0.23304	T	0.0281746306648205	0.01713	T	0.966003	0.87497	D	0.083781205	0.19362	0.08073625	0.18288	0.08610936	0.20001	0.08824614	0.20562	-8.797	0.66381	D	0.13163972266992344	0.13963	0.131	0.28290	B	.;.	.;.	2.030939	0.25809	16.90	0.97712324781495252	0.35501	0.79121	0.39147	D	AEFDBHI	0.281120	0.39478	N	-0.474931153447133	0.22904	1.226263	-0.453391340475146	0.23453	1.279074	0.999966971904649	0.48965	0.562547	0.31514	0	0.563428	0.19063	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	3.83	-1.21	0.09033	2.760000	0.47262	1.905000	0.29608	-0.272000	0.06708	1.000000	0.71638	0.882000	0.27718	0.977000	0.56843	0.4074:0.0:0.4284:0.1641	4.317	0.10440	763	0.50172	.;.	.	.	.	.	.	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	1	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.007576	0.02632	2447.33	39	chr22	19233448	.	G	T	2447.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.94;DP=876;ExcessHet=0;FS=1.968;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=0.455;SOR=0.527	GT:AD:DP:GQ:PL	0/1:77,84:161:99:2461,0,2051	18	0	1	0
chr22	20779749	20779749	A	T	exonic	SERPIND1	.	nonsynonymous SNV	SERPIND1:NM_000185:exon2:c.A437T:p.N146I	Thrombophilia due to heparin cofactor II deficiency, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	.	3226514	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.364	0.075291750618	.	0.000199681	0.0003	0	8.639e-05	0	0	0.0003	0.0011	0.0007	0.0002199	34	154602	rs202123183	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0008	0.0006	0	4.472e-05	0	0	0	0.0016	0.0002	0.0002	0.0007	0.0001	0.0001	0.0001	0.0001	0.0006	8.161e-05	6.718e-05	0.0002	8.992e-05	2.405e-05	0	6.532e-05	0	0	0	0.0068	0.0002	0.0005	0.0006	0.005	0.63226	D	0.051	0.47828	T	0.033	0.20350	B	0.098	0.30479	B	0.831281	0.06943	N	1.070710	1	0.08975	N	2.645	0.77386	M	-2.37	0.88220	D	-4.2	0.75695	D	0.291	0.32921	-0.1947	0.77808	T	0.650	0.87808	D	10	0.118846685	0.22477	T	0.075292	0.72252	D	0.364	0.68407	.	.	0.725326469919	0.72289	0.5559638039926801	0.55523	0.279714035493	0.30458	0.261275947094	0.05043	T	0.73965	0.92778	D	-0.226175	0.17158	T	-0.201867	0.54470	T	0.123033718491691	0.14724	T	0.510849	0.16306	T	0.34378368	0.56579	0.33984292	0.59744	0.34081054	0.56344	0.29802918	0.55836	-6.816	0.52678	T	0.5866665607633216	0.65347	0.167	0.36850	B	.;.	.;.	0.562653	0.09313	6.093	0.92906638319264323	0.22463	0.21794	0.21526	N	AEFBCI	0.815301	0.73731	D	-1.07210388660278	0.07161	0.3318281	-1.23473058753536	0.05361	0.255236	0.999999998555097	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.491513	0.07944	0	0.591603	0.36755	0	.	.	5.59	-7.12	0.01384	0.819000	0.26965	-0.209000	0.10871	-0.054000	0.16847	0.000000	0.06391	0.000000	0.08366	0.471000	0.28363	0.5312:0.082:0.3869:0.0	11.649	0.50537	798	0.45050	Serpin domain|Serpin domain|Heparin cofactor II;Serpin domain|Serpin domain|Heparin cofactor II	.	.	.	.	.	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	1	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.000000	0.05263	5044.83	38	chr22	20779749	.	A	T	5044.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.09;DP=998;ExcessHet=0.119;FS=1.191;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.007;SOR=0.628	GT:AD:DP:GQ:PL	0/1:104,100:204:99:2679,0,2855	17	0	2	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3611	1557.51	24	chr22	21216084	.	C	T	1557.51	.	AC=13;AF=0.361;AN=36;BaseQRankSum=2.24;DP=256;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5792;MLEAC=14;MLEAF=0.389;MQ=46.12;MQRankSum=-2.189;QD=9.27;ReadPosRankSum=-0.593;SOR=0.681	GT:AD:DP:GQ:PL	0/1:4,4:8:94:129,0,94	5	0	13	1
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10811.0	92	chr22	23311788	.	T	TCCGG	10811.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.736;DP=1944;ExcessHet=25.4433;FS=20.732;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=55.07;MQRankSum=-7.837;QD=6.32;ReadPosRankSum=-0.502;SOR=2.084	GT:AD:DP:GQ:PL	0/1:82,15:97:99:383,0,3358	3	0	16	0
chr22	25028244	25028244	C	T	exonic	KIAA1671	.	nonsynonymous SNV	KIAA1671:NM_001145206:exon1:c.C245T:p.P82L	.	.	.	.	.	.	.	.	.	.	.	2268226	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.006	0.0725702275693	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs939387953	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	3.165e-05	0.0002	0.0022	5.596e-05	0	0.0002	0.0003	0.0002	0.0004	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	8.71e-05	0.0001	7.895e-05	9.616e-05	0	0	0.0012	0	0	0	0.0002	0.0005	0.0004	0.022	0.48642	D	0.118	0.36233	T	0.017	0.17573	B	0.003	0.08700	B	0.266828	0.03746	N	1.632430	1	0.08975	N	0.55	0.14455	N	.	.	.	-0.6	0.17834	N	0.059	0.03069	-1.0410	0.17011	T	0.064	0.26456	T	9	0.0270136	0.00855	T	0.07257	0.71566	D	0.006	0.00375	0.257	0.19845	0.0666544352282	0.05500	0.09409084084917377	0.09341	.	.	0.264668226242	0.05459	T	0.009676	0.08796	T	-0.271868	0.11550	T	-0.628296	0.10545	T	0.0318257062063676	0.02277	T	0.39816	0.10064	T	0.025226502	0.01436	0.025314542	0.00572	0.025226502	0.01436	0.025314542	0.00571	-3.488	0.16265	T	.	.	0.083	0.09094	B	.;.	.;.	0.032397	0.04511	1.213	0.94851726657695201	0.25653	0.08804	0.14678	N	AEFDGBCI	0.047232	0.07931	N	-1.23158112042901	0.04548	0.2054965	-1.28072656037185	0.04691	0.2218707	0.999715230885498	0.42101	0.713056	0.82018	0	0.547309	0.14657	0	0.608524	0.38960	0	0.636168	0.56350	0	.	.	4.62	-1.72	0.07671	-0.053000	0.11802	-0.984000	0.06702	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3064:0.4387:0.0:0.2549	3.563	0.07443	923	0.18507	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	908.33	39	chr22	25028244	.	C	T	908.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.8;DP=687;ExcessHet=0;FS=3.828;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=-1.783;SOR=0.854	GT:AD:DP:GQ:PL	0/1:25,28:53:99:922,0,613	18	0	1	0
chr22	26488200	26488200	G	A	exonic	SRRD	.	nonsynonymous SNV	SRRD:NM_001013694:exon3:c.G422A:p.C141Y	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.529	0.0475471867352	.	.	2.485e-05	0	0	0	0	4.497e-05	0	0	3.23e-05	5	154602	rs775985021	3.831e-05	3.831e-05	2.859e-05	4.813e-05	0.0007	3.025e-05	2.719e-05	0.0002	0.0001	0	0	0	0	0	0.0007	4.047e-05	4.967e-05	4.637e-05	2.626e-05	2.625e-05	0	5.369e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.95	0.84923	M	0.81	0.48460	T	-4.58	0.78807	D	0.906	0.90704	-0.4363	0.70853	T	0.308	0.67858	T	10	0.81016403	0.80310	D	0.047547	0.62970	D	0.529	0.80128	0.563	0.68364	0.508875229312	0.50527	0.8144161826400522	0.81397	0.240276603734	0.26575	0.646018862724	0.59419	T	0.220365	0.58363	T	0.165624	0.70720	D	0.180427	0.82020	D	0.981040298938751	0.73690	D	0.784922	0.42251	T	0.7570349	0.81278	0.7946199	0.87933	0.7570349	0.81280	0.7946199	0.87934	-14.261	0.93873	D	.	.	0.777	0.76246	P	.	.	5.911330	0.94035	33	0.99795189761695324	0.88017	0.96266	0.68304	D	AEFDGBCI	0.899975	0.84496	D	0.804763253877262	0.86404	8.874363	0.759671436920862	0.86876	9.032446	0.999999999999946	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.09	5.09	0.68647	7.302000	0.78184	7.455000	0.58998	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.0:0.0:1.0:0.0	17.238	0.86887	977	0.04225	SRR1-like 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	.	.	.	.	.	.	.	.	0.02632	3582.33	40	chr22	26488200	.	G	A	3582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.479;DP=970;ExcessHet=0;FS=2.663;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.899;SOR=0.863	GT:AD:DP:GQ:PL	0/1:131,141:272:99:3596,0,3314	18	0	1	0
chr22	37723782	37723782	G	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.G1226A:p.R409Q	Deafness, autosomal recessive 28, Autosomal recessive	0	1510	10	0	2	12	0.00330033	.	.	.	1202933	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.012	.	.	0.00499201	0.0031	0.0001	8.651e-05	0.0438	0	1.501e-05	0.0011	0	0.0027555	426	154602	rs148874577	0.0010	0.0010	0.0011	0.0010	0.0320	0.0010	0.0010	0.0305	0.0299	6.376e-05	7.313e-05	0	0.0320	0	0.0002	3.507e-05	0.0015	6.192e-05	0.0010	0.0011	0.0010	0.0011	0.0299	0.0009	0.0009	0.0261	0.0246	0	0	0.0001	0	0.0299	0	0	1.474e-05	0.0010	0	0.479	0.08261	T	0.639	0.06992	T	0.008	0.14655	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.545	0.39105	L	2.0	0.21473	T	-0.02	0.07299	N	0.043	0.01577	-0.9535	0.40363	T	0.008	0.02968	T	9	0.0030727684	0.00051	T	.	.	.	0.012	0.01476	.	.	0.176091768786	0.17195	0.04340369790283395	0.04285	0.287755544216	0.31175	0.194641113281	0.00318	T	0.011106	0.09952	T	-0.704607	0.00034	T	-0.749125	0.03520	T	0.0168701654684973	0.00440	T	0.471453	0.13989	T	0.018842494	0.00408	0.027460767	0.00901	0.02319409	0.01039	0.0325489	0.02008	-5.371	0.40640	T	.	.	0.109	0.20663	B	.;.	.;.	-0.822505	0.01063	0.046	0.93057280668581877	0.22668	0.01636	0.05270	N	AEFBCI	0.028584	0.02545	N	-1.41085451967982	0.02542	0.112409	-1.41621987952494	0.03089	0.1434411	0.0149435139194366	0.12656	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.586402	0.36253	0	.	.	2.35	0.046	0.13551	-3.693000	0.00439	-7.605000	0.01122	0.498000	0.22619	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3276:0.0:0.6724:0.0	5.612	0.16688	910	0.22284	.;.	.	.	.	.	.	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	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	5545.33	136	chr22	37723782	.	G	A	5545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.38;DP=6125;ExcessHet=0;FS=3.233;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.3;MQRankSum=-1.102;QD=11.36;ReadPosRankSum=-2.244;SOR=0.96	GT:AD:DP:GQ:PL	0/1:268,220:488:99:5559,0,6373	18	0	1	0
chr22	41436552	41436552	C	T	exonic	TOB2	.	nonsynonymous SNV	TOB2:NM_016272:exon2:c.G794A:p.G265D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0149752203836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210860132	6.175e-06	6.156e-06	8.189e-06	4.139e-06	2.991e-05	2.91e-06	2.1e-06	3.87e-06	1.45e-06	2.991e-05	0	0	0	0	0	5.405e-06	0	2.331e-05	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.009	0.57480	D	0.025	0.56192	D	0.014	0.16867	B	0.031	0.21939	B	0.548563	0.11460	N	0.741487	1	0.08975	N	1.7	0.43825	L	0.88	0.46028	T	-0.87	0.23590	N	0.184	0.19995	-1.0226	0.22866	T	0.078	0.31133	T	10	0.11498082	0.21650	T	0.014975	0.35442	T	0.057	0.16321	0.371	0.38176	0.232442253697	0.22838	0.4147161350501113	0.41387	0.481875976555	0.47160	0.449853777885	0.31923	T	0.210713	0.57128	T	-0.114982	0.33948	T	-0.40294	0.33043	T	0.0993715338914697	0.12288	T	0.705929	0.31637	T	0.11415233	0.26951	0.119358666	0.28810	0.11415233	0.26951	0.119358666	0.28810	-5.637	0.43129	T	.	.	0.297	0.52744	B	.	.	1.651154	0.21067	15.03	0.95982833211504093	0.28363	0.33980	0.24959	N	AEFDBCI	0.179333	0.30662	N	-0.667686107913049	0.16947	0.8678911	-0.645865558408236	0.18321	0.9781896	0.999906629194765	0.45458	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.55	3.52	0.39415	1.225000	0.32154	1.728000	0.28308	0.599000	0.40250	0.001000	0.13787	0.002000	0.18203	0.044000	0.14658	0.0:0.8091:0.1909:0.0	10.818	0.45788	180	0.92993	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2457.33	33	chr22	41436552	.	C	T	2457.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.375;DP=837;ExcessHet=0;FS=0.557;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-0.311;SOR=0.772	GT:AD:DP:GQ:PL	0/1:85,91:176:99:2471,0,2285	18	0	1	0
chr22	41753964	41753964	C	G	exonic	MEI1	.	nonsynonymous SNV	MEI1:NM_152513:exon17:c.C1869G:p.N623K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.0248532985239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.12345	T	0.0	0.92824	D	0.867	0.47667	P	0.461	0.46460	P	0.000000	0.84330	D	0.049311	1	0.81001	D	2.455	0.71248	M	3.65	0.04267	T	-2.31	0.53096	N	0.926	0.93018	-0.8925	0.48713	T	0.015	0.05897	T	10	0.6763918	0.71016	D	0.024853	0.47835	T	0.149	0.39377	0.325	0.30711	0.184867976434	0.18130	0.5026059203935608	0.50182	0.546491555766	0.51644	0.624919772148	0.56424	T	0.439595	0.78482	T	-0.204021	0.20227	T	-0.530838	0.19204	T	0.97806042432785	0.72143	D	0.824218	0.48580	T	0.18725948	0.40172	0.1977485	0.43572	0.18725948	0.40172	0.1977485	0.43571	-7.805	0.59734	D	.	.	0.702	0.73029	P	.;.	.;.	2.039391	0.25922	16.94	0.99154176492749102	0.53903	0.59330	0.30885	D	AEFDGBI	0.254709	0.37397	N	-0.27254022256081	0.30213	1.682524	-0.289917366153927	0.28430	1.585113	0.997716112598469	0.35940	0.653281	0.48532	0	0.659037	0.61890	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.46	-0.942	0.09869	0.076000	0.14570	-0.234000	0.10651	-0.193000	0.09282	0.994000	0.38300	0.313000	0.24283	0.901000	0.43729	0.0:0.3147:0.0:0.6853	8.248	0.30860	138	0.94518	.;.	.	.	.	.	.	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	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	952.33	35	chr22	41753964	.	C	G	952.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.229;DP=697;ExcessHet=0;FS=4.383;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=1.12;SOR=0.767	GT:AD:DP:GQ:PL	0/1:41,36:77:99:966,0,1162	18	0	1	0
chr22	45212334	45212334	G	A	exonic	KIAA0930	.	stopgain	KIAA0930:NM_015264:exon1:c.C10T:p.Q4X	.	428	1091	3	0	0	3	0.001373	.	.	.	2819660	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0029	0.00199681	0.0038	0.0008	0.0014	0	0.0024	0.0059	0.0034	0.0020	0.0036481	564	154602	rs150665432	0.0039	0.0039	0.0038	0.0040	0.0052	0.0038	0.0038	0.0042	0.0042	0.0006	0.0021	0.0057	0	0.0039	0.0052	0.0043	0.0033	0.0024	0.0031	0.0031	0.0034	0.0029	0.0049	0.0029	0.0028	0.0045	0.0043	0.0008	0.0143	0.0022	0.0043	0	0.0019	0	0.0049	0.0052	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.029	0.05929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.37721	0.03244	T	-0.313108	0.43325	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.	High;.	-0.192803	0.03128	0.501	0.97273141113812711	0.33144	0.06331	0.12329	N	ALL	0.041809	0.06406	N	-0.264687512630437	0.30521	1.702629	-0.700882714057974	0.16939	0.8984094	0.999999999998426	0.74766	0.693307	0.56506	0	0.379588	0.06130	0	0.658952	0.52864	0	0.372554	0.06265	0	.	.	2.41	-1.47	0.08312	-0.757000	0.04877	-0.195000	0.11000	-0.212000	0.08331	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1506:0.3861:0.4633:0.0	4.865	0.12962	982	0.03397	.;.	.	.	.	.	.	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	0.003525	0.000000	0.006793	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	878.33	37	chr22	45212334	.	G	A	878.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.499;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.97;ReadPosRankSum=-1.886;SOR=0.677	GT:AD:DP:GQ:PL	0/1:23,32:55:99:892,0,667	18	0	1	0
chr22	46534407	46534407	C	A	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon1:c.G2764T:p.G922C,CELSR1:NM_014246:exon1:c.G2764T:p.G922C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.104205490749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.017	0.60337	D	1.0	0.90584	D	0.992	0.80445	D	0.000002	0.62929	U	0.000000	0.999763	0.48888	D	4.135	0.97499	H	2.0	0.21473	T	-4.68	0.79659	D	0.652	0.66272	0.523	0.90863	D	0.645	0.87606	D	10	0.91912127	0.91269	D	0.104205	0.77866	D	0.405	0.71791	0.797	0.91729	0.773313398759	0.77123	0.8120034560889772	0.81156	1.82600149433	0.92012	0.718190729618	0.69782	T	0.663471	0.89929	D	0.107827	0.65125	D	-0.0828911	0.64692	T	0.997039496898651	0.90620	D	0.948505	0.80194	D	0.7337582	0.79936	0.50989336	0.71677	0.7337582	0.79937	0.50989336	0.71678	-11.478	0.82215	D	.	.	0.669	0.71697	P	.	.	4.665462	0.74508	26.2	0.99597426905827879	0.73983	0.91339	0.53334	D	AEFDBCI	0.714671	0.66708	D	0.362029902825829	0.59377	4.11668	0.246138234394009	0.52429	3.417869	0.999999952411652	0.74766	0.695654	0.57023	0	0.578056	0.33634	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.42	3.41	0.38145	3.755000	0.54910	4.931000	0.46129	0.599000	0.40250	0.998000	0.41325	0.999000	0.35428	0.813000	0.38311	0.0:0.9157:0.0:0.0843	12.061	0.52862	940	0.13648	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2007.33	114	chr22	46534407	.	C	A	2007.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.782;DP=1872;ExcessHet=0;FS=1.969;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.475;SOR=0.634	GT:AD:DP:GQ:PL	0/1:90,72:162:99:2021,0,2499	18	0	1	0
chr22	50217998	50217998	C	T	exonic	TUBGCP6	.	nonsynonymous SNV	TUBGCP6:NM_020461:exon24:c.G5288A:p.R1763Q	Microcephaly and chorioretinopathy, autosomal recessive, 1, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	YES	1052180	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.00678204344508	.	.	8.61e-05	0	0.0003	0	0	7.876e-05	0	6.153e-05	6.47e-05	10	154602	rs756770991	2.467e-05	2.463e-05	1.773e-05	3.167e-05	0.0003	1.806e-05	1.603e-05	6.119e-05	3.972e-05	3e-05	0.0001	0	2.519e-05	0	0.0003	2.07e-05	3.317e-05	1.16e-05	1.315e-05	1.313e-05	2.571e-05	0	2.942e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.282	0.15406	T	1.0	0.01155	T	0.089	0.25085	B	0.008	0.13708	B	0.190845	0.16851	N	0.564709	1	0.81001	D	-1.39	0.00611	N	3.18	0.25018	T	-0.32	0.14000	N	0.361	0.40264	-1.0250	0.22083	T	0.016	0.06473	T	10	0.030984491	0.01229	T	0.006782	0.17925	T	0.022	0.04323	0.289	0.24921	0.216624796971	0.21254	0.27593058935923737	0.27506	0.124164387762	0.13980	0.33486956358	0.15669	T	0.014669	0.12441	T	-0.51823	0.00450	T	-0.697464	0.05966	T	0.028810633535154	0.01809	T	0.628837	0.24395	T	0.025800703	0.01559	0.024902364	0.00519	0.025800703	0.01558	0.024902364	0.00519	-3.171	0.12129	T	.	.	0.078	0.12323	B	.;.	.;.	-0.531953	0.01768	0.134	0.78920740191271799	0.12511	0.25271	0.22648	N	AEFDBCI	0.073451	0.14693	N	-1.03522344268964	0.07880	0.3675895	-0.957659204332551	0.10746	0.5431886	0.998895814294873	0.37915	0.67177	0.52595	0	0.702456	0.74545	0	0.575934	0.27490	0	0.636168	0.56350	0	.	.	4.65	0.706	0.17290	0.289000	0.18713	-4.037000	0.02379	-0.182000	0.10109	0.100000	0.22794	0.000000	0.08366	0.024000	0.12247	0.1929:0.4198:0.0:0.3872	3.163	0.06137	684	0.59539	.;.	.	.	.	.	.	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	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1596.33	33	chr22	50217998	.	C	T	1596.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=757;ExcessHet=0;FS=1.417;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-1.109;SOR=0.859	GT:AD:DP:GQ:PL	0/1:62,63:125:99:1610,0,1407	18	0	1	0
chrX	6533891	6533891	C	G	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G415C:p.E139Q	.	590	905	21	1	5	28	0.0125477	.	.	.	2823779	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.00179344001198	0.0006	0.000264901	0.0045	0.0009	0.0023	0.0014	0.0029	0.0071	0.0018	0.0007	0.0032988	510	154602	rs200714581	0.0008	0.0020	0.0012	1.23e-05	0.0009	0.0008	0.0008	0.0008	0.0008	0	0.0002	0.0008	6.976e-05	0.0020	0.0007	0.0009	0.0012	9.875e-05	0.0041	0.0057	0.0053	5.056e-05	0.0068	0.0038	0.0037	0.0061	0.0059	0.0009	0.0077	0.0029	0.0022	0.0010	0.0022	0	0.0068	0.0034	0.0012	0.544	0.06713	T	0.438	0.13403	T	0.876	0.48154	P	0.15	0.34161	B	.	.	.	.	1	0.18198	N	0.46	0.12951	N	2.2	0.18570	T	0.18	0.05035	N	0.027	0.00571	-1.0072	0.27789	T	0.011	0.04274	T	8	0.006188631	0.00139	T	0.001793	0.03063	T	0.022	0.04323	.	.	0.0675242888579	0.06100	0.005834718446931377	0.00552	0.264439684571	0.28993	0.460398644209	0.33365	T	8.18E-4	0.00397	T	-0.76023	0.00015	T	-0.900172	0.00501	T	0.0066683077830758	0.00075	T	0.453855	0.12912	T	0.12563546	0.29446	0.07094291	0.15133	0.12563546	0.29446	0.07094291	0.15133	-2.302	0.04566	T	.	.	0.094	0.14614	B	.	.	-0.450745	0.02030	0.183	0.11927049906394777	0.00193	0.00081	0.00551	N	AEFI	.	.	.	.	.	.	.	.	.	2.0318682873288E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.367000	0.07607	-2.172000	0.04107	-1.431000	0.01115	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6668:0.0:0.3332	4.428	0.10939	1000	0.00083	.	.	.	.	.	.	Likely benign	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	1	0	0.009483	0.050000	0.007722	0.000000	0.000000	0.012658	0.006250	0.006329	0.05263	1974.83	161	chrX	6533891	.	C	G	1974.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.97;DP=1482;ExcessHet=0.119;FS=26.176;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=39.36;MQRankSum=4.79;QD=7.9;ReadPosRankSum=-1.292;SOR=1.926	GT:AD:DP:GQ:PL	0/1:108,21:129:99:180,0,3121	17	0	2	0
chrX	6533918	6533918	C	G	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G388C:p.V130L	.	544	964	11	0	3	14	0.00567303	.	.	.	1318923	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.007	0.00113823230889	.	.	4.171e-05	0	0.0001	0.0002	0	2.631e-05	0	0	0.0001537	4	26028	rs780354662	0.0006	0.0027	0.0008	0.0001	0.0045	0.0006	0.0005	0.0039	0.0036	0.0002	0.0045	0.0008	0.0003	0.0010	0.0008	0.0005	0.0009	0.0004	0.0027	0.0049	0.0035	0	0.0095	0.0024	0.0023	0.0076	0.0070	0.0020	0.0101	0.0095	0.0014	0.0007	0.0011	0	0.0023	0.0047	0.0012	0.49	0.07994	T	0.409	0.14588	T	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.23600	N	0.755	0.19153	N	2.2	0.18570	T	-1.11	0.28703	N	0.043	0.01577	-0.9677	0.37673	T	0.018	0.07423	T	8	0.0094252825	0.00213	T	0.001138	0.01410	T	0.007	0.00512	0.176	0.08257	0.043077524339	0.03247	0.0029763199075203426	0.00277	0.262585590398	0.28824	0.465717852116	0.34094	T	0.005635	0.05080	T	-0.812437	0.00006	T	-1.0337	0.00085	T	0.006969164911672	0.00079	T	0.438156	0.12052	T	0.095408544	0.22454	0.074618824	0.16342	0.095408544	0.22454	0.074618824	0.16342	-7.177	0.55316	T	.	.	0.159	0.35204	B	.	.	-0.490809	0.01897	0.157	0.28057428731072176	0.01423	0.00230	0.01288	N	AEFI	.	.	.	.	.	.	.	.	.	1.32790682951601E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.896000	0.01696	-1.954000	0.04440	-1.658000	0.00817	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9998:0.0:2.0E-4	6.624	0.22011	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	.	.	.	.	.	.	.	.	0.05556	419.59	161	chrX	6533918	.	C	G	419.59	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.551;DP=1362;ExcessHet=0.119;FS=93.078;InbreedingCoeff=-0.0707;MLEAC=2;MLEAF=0.056;MQ=34.93;MQRankSum=-1.239;QD=4.61;ReadPosRankSum=-2.827;SOR=5.781	GT:AD:DP:GQ:PL	0/1:62,9:71:99:165,0,2888	16	0	2	1
chrX	8170177	8170177	T	G	exonic	VCX2	.	nonsynonymous SNV	VCX2:NM_016378:exon3:c.A275C:p.E92A	.	476	1045	1	0	0	1	0.00047824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0020673228205	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs774596867	1.104e-05	1.093e-05	1.23e-05	8.431e-06	5.775e-05	5.89e-06	4.65e-06	9.57e-06	3.58e-06	0	5.775e-05	0	0	0	0	9.569e-06	4.383e-05	0	0	9.629e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.17	0.22833	T	0.222	0.25748	T	0.593	0.39147	P	0.486	0.47228	P	.	.	.	.	1	0.08975	N	2.395	0.69210	M	2.24	0.17923	T	-2.91	0.60982	D	0.206	0.22870	-1.0248	0.22148	T	0.054	0.22997	T	8	0.11390269	0.21412	T	0.002067	0.03801	T	0.090	0.26093	0.054	0.00134	0.181679512989	0.17746	0.0015890258956866724	0.00146	0.00905380675831	0.00821	0.443667441607	0.31078	T	0.014825	0.12548	T	-0.428431	0.01515	T	-0.733207	0.04184	T	0.291226610539382	0.24641	T	0.523348	0.17107	T	0.12549442	0.29417	0.14060606	0.33510	0.12549442	0.29417	0.14060606	0.33509	-4.453	0.30269	T	.	.	0.152	0.33687	B	.	.	0.457302	0.08270	5.016	0.59886267992188569	0.06330	0.00292	0.01564	N	AEFI	.	.	.	.	.	.	.	.	.	1.15817037627451E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.046	0.13572	-1.207000	0.03118	-1.639000	0.05008	-0.613000	0.04580	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	1000	0.00083	.	.	.	.	.	.	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	0.004988	0.011765	0.001890	0.005952	0.000000	0.012195	0.011834	0.000000	0.02632	1466.33	97	chrX	8170177	.	T	G	1466.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.048;DP=930;ExcessHet=0;FS=5.95;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=46.86;MQRankSum=1.53;QD=15.94;ReadPosRankSum=-0.301;SOR=1.399	GT:AD:DP:GQ:PL	0/1:45,47:92:99:1480,0,1222	18	0	1	0
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F,MID1:NM_001193280:exon6:c.C1180T:p.L394F,MID1:NM_001193278:exon7:c.C1447T:p.L483F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1842	1000.93	34	chrX	10469688	.	G	A	1000.93	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.75;DP=1491;ExcessHet=2.9153;FS=112.758;InbreedingCoeff=-0.2319;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=1.26;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,21:172:99:0|1:10469688_G_A:101,0,5151:10469688	12	0	7	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C,MID1:NM_001193280:exon6:c.A1178G:p.Y393C,MID1:NM_001193278:exon7:c.A1445G:p.Y482C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2778	1584.05	171	chrX	10469690	.	T	C	1584.05	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-4.023;DP=1724;ExcessHet=6.9875;FS=123.179;InbreedingCoeff=-0.382;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=1.35;SOR=10.876	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,21:172:99:0|1:10469688_G_A:101,0,5151:10469688	8	0	10	1
chrX	37659638	37659638	C	T	exonic	LANCL3	.	nonsynonymous SNV	LANCL3:NM_001170331:exon3:c.C874T:p.H292Y,LANCL3:NM_198511:exon3:c.C874T:p.H292Y	.	433	1088	0	1	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.529594351233	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1240174692	5.469e-06	5.463e-06	6.807e-06	2.758e-06	0.0002	1.97e-06	1.29e-06	1.74e-06	1.27e-06	0	0	0	0	0	0.0002	5.943e-06	0	0	9.06e-06	8.71e-06	1.286e-05	0	1.894e-05	0	0	.	.	0	0	0	0	0	0	0	1.894e-05	0	0	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.052245	1	0.81001	D	3.125	0.87999	M	0.92	0.44461	T	-5.05	0.82700	D	0.911	0.92433	-0.4704	0.69711	T	0.314	0.68415	T	10	0.9359208	0.92922	D	0.529594	0.95568	D	0.372	0.69102	0.703	0.83962	0.712351945345	0.70983	0.8036668987269587	0.80320	1.47514625927	0.86607	0.8225492239	0.85419	D	0.250532	0.62064	T	0.261759	0.79692	D	0.138222	0.79429	D	0.993999006763046	0.85040	D	0.922108	0.71672	D	0.9471615	0.95977	0.90702385	0.95476	0.9471615	0.95977	0.90702385	0.95477	-10.783	0.78940	D	.	.	0.971	0.89603	P	.;.;.	.;.;.	4.253833	0.64587	24.7	0.99784273294159687	0.87043	0.97378	0.74370	D	AEFGI	.	.	.	.	.	.	.	.	.	0.999999978222129	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.05	5.05	0.67566	6.743000	0.74649	7.191000	0.57773	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.611	0.87956	85	0.96447	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1329.33	35	chrX	37659638	.	C	T	1329.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.688;DP=616;ExcessHet=0;FS=1.081;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.44;ReadPosRankSum=0.156;SOR=0.521	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,34:62:99:0|1:37659637_G_T:1343,0,1073:37659637	18	0	1	0
chrX	48258608	48258608	A	G	exonic	SSX1	.	nonsynonymous SNV	SSX1:NM_005635:exon4:c.A257G:p.N86S,SSX1:NM_001278691:exon5:c.A257G:p.N86S	.	425	1095	2	0	0	2	0.000912409	.	.	.	2204045	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.000993909821349	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1439124998	4.57e-06	4.554e-06	5.447e-06	2.78e-06	0.0002	1.34e-06	9.7e-07	4e-07	1.5e-07	0	0	0	0	0	0.0002	2.385e-06	2.177e-05	1.85e-05	1.801e-05	1.742e-05	2.57e-05	0	3.769e-05	2.99e-06	1.12e-06	6.25e-06	2.34e-06	0	0	0	0	0	0	0	3.769e-05	0	0	0.222	0.18823	T	0.178	0.29639	T	0.956	0.54666	P	0.931	0.66596	D	0.006330	0.01120	N	2.566120	1	0.08975	N	2.425	0.70256	M	3.32	0.06214	T	-2.22	0.49846	N	0.052	0.02366	-1.0762	0.08104	T	0.044	0.18989	T	10	0.13123366	0.24976	T	9.94E-4	0.01050	T	0.025	0.05312	0.415	0.45380	0.0551355673512	0.04727	0.028395790437134773	0.02789	3.40522473235E-4	0.00031	0.294222772121	0.09542	T	0.073488	0.34710	T	-0.689888	0.00042	T	-1.07846	0.00041	T	0.128177326611473	0.15212	T	0.909509	0.67973	D	0.051241066	0.09380	0.06415415	0.12816	0.051241066	0.09380	0.06415415	0.12816	-2.94	0.09548	T	.	.	0.082	0.08705	B	.	.	0.135204	0.05303	1.794	0.90584416082876862	0.19838	0.00785	0.03216	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.00280793798191595	0.09719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.98	0.678	0.17136	-0.443000	0.06935	0.189000	0.15722	-0.511000	0.04998	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6496:0.3504:0.0:0.0	4.404	0.10830	399	0.82780	.	.	.	.	.	.	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	2732.33	35	chrX	48258608	.	A	G	2732.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.277;DP=852;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.89;MQRankSum=0;QD=13.73;ReadPosRankSum=-0.202;SOR=0.657	GT:AD:DP:GQ:PL	0/1:87,112:199:99:2746,0,2102	18	0	1	0
chrX	49248261	49248261	G	A	exonic	CCDC22	.	nonsynonymous SNV	CCDC22:NM_014008:exon10:c.G1163A:p.R388H	Ritscher-Schinzel syndrome 2, X-linked recessive	432	1087	1	2	0	5	0.00229463	.	.	.	190864	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.158	.	0.0055	0.00291391	0.0020	0.0182	0.0010	0	0	0.0004	0.0021	0	0.0012807	198	154602	rs113045747	0.0007	0.0007	0.0007	0.0006	0.0127	0.0006	0.0006	0.0116	0.0111	0.0127	0.0010	0	0	2.681e-05	0.0026	0.0003	0.0015	0.0001	0.0036	0.0038	0.0039	0.0026	0.0118	0.0033	0.0032	0.0108	0.0104	0.0118	0	0.0016	0	0	0	0	0.0003	0.0027	0.0008	0.023	0.48186	D	0.025	0.56192	D	0.904	0.49848	P	0.388	0.44086	B	0.001428	0.39044	N	0.246438	0.900852	0.36168	D	2.255	0.64187	M	.	.	.	-3.45	0.67589	D	0.316	0.35620	-0.7863	0.55944	T	0.120	0.41886	T	9	0.007858574	0.00178	T	.	.	.	0.158	0.41098	.	.	0.578734303472	0.57543	0.1560165663341228	0.15522	0.516598376616	0.49541	0.322820276022	0.13848	T	0.731189	0.92478	D	-0.484786	0.00694	T	-0.456814	0.26947	T	0.0144058374460077	0.00290	T	0.834017	0.50309	T	0.18386127	0.39674	0.18820919	0.42098	0.18386127	0.39674	0.18820919	0.42098	-5.195	0.38891	T	0.2594151990648017	0.35041	0.116	0.23535	B	.	.	1.939171	0.24630	16.47	0.99848532876464524	0.92838	0.51148	0.28828	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999084918070483	0.38397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.96	3.16	0.35406	0.736000	0.25798	1.788000	0.28774	0.614000	0.49286	0.979000	0.35152	0.965000	0.29475	0.915000	0.45038	0.267:0.0:0.733:0.0	8.658	0.33235	.	.	.	.	.	.	.	.	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	1	0	0.002080	0.000000	0.001855	0.007937	0.000000	0.000000	0.000000	0.000000	0.02632	1055.33	34	chrX	49248261	.	G	A	1055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.336;DP=668;ExcessHet=0;FS=0.944;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=-0.169;SOR=0.539	GT:AD:DP:GQ:PL	0/1:28,38:66:99:1069,0,712	18	0	1	0
chrX	49248482	49248482	G	A	exonic	CCDC22	.	nonsynonymous SNV	CCDC22:NM_014008:exon11:c.G1288A:p.A430T	Ritscher-Schinzel syndrome 2, X-linked recessive	420	1072	18	12	0	42	0.0192132	.	.	.	101446	Ritscher-Schinzel_syndrome_2|not_specified|not_provided	MONDO:MONDO:0010499,MedGen:C4225419,OMIM:300963,Orphanet:7|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.181	.	0.0053	0.00582781	0.0082	0.0008	0.0022	0	0.0221	0.0117	0.0114	0.0042	0.007225	1117	154602	rs144632022	0.0078	0.0078	0.0079	0.0077	0.0247	0.0077	0.0076	0.0209	0.0194	0.0011	0.0036	0.0105	0	0.0186	0.0247	0.0081	0.0080	0.0040	0.0060	0.0061	0.0062	0.0054	0.0082	0.0056	0.0054	0.0076	0.0073	0.0012	0	0.0044	0.0083	0.0003	0.0179	0.0092	0.0082	0.0059	0.0019	0.152	0.24468	T	0.537	0.09863	T	0.992	0.64738	D	0.666	0.52990	P	0.004755	0.33426	N	0.310015	0.553096	0.31318	N	2.25	0.63811	M	.	.	.	-0.65	0.18877	N	0.1	0.08227	-0.7477	0.58055	T	0.129	0.43767	T	9	0.008079827	0.00183	T	.	.	.	0.181	0.45247	.	.	0.704060556882	0.70149	0.04173131593554087	0.04118	0.440805406712	0.44083	0.524738907814	0.42294	T	0.205176	0.56416	T	-0.355553	0.04388	T	-0.276539	0.47159	T	0.0165678910958323	0.00418	T	0.925307	0.72522	D	0.14986268	0.34145	0.18517926	0.41615	0.14986268	0.34144	0.18517926	0.41614	-5.044	0.37314	T	0.2009483441160326	0.26683	0.094	0.14293	B	.	.	3.193679	0.43402	21.7	0.99910940227758416	0.98022	0.94361	0.60920	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99996077201853	0.48965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.19	5.19	0.71428	4.632000	0.61009	7.481000	0.59259	0.672000	0.70159	0.991000	0.37257	1.000000	0.68203	0.836000	0.39433	0.0:0.1609:0.8391:0.0	12.854	0.57257	.	.	.	.	.	.	.	.	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	1	0	0.020862	0.013605	0.016760	0.015810	0.071429	0.000000	0.053097	0.010526	0.02632	1109.33	39	chrX	49248482	.	G	A	1109.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.53;DP=761;ExcessHet=0;FS=0.808;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.724;SOR=0.601	GT:AD:DP:GQ:PL	0/1:51,40:91:99:1123,0,1261	18	0	1	0
chrX	54929291	54929291	C	T	exonic	TRO	.	nonsynonymous SNV	TRO:NM_001271183:exon10:c.C1160T:p.T387M,TRO:NM_001271184:exon11:c.C1376T:p.T459M,TRO:NM_001039705:exon12:c.C2567T:p.T856M	.	430	1086	4	2	0	8	0.00366972	.	.	.	2398391	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.0112520916044	0.0003	.	0.0004	0.0001	0.0001	0.0002	0	0.0006	0	0.0002	0.0003881	60	154602	rs201064205	0.0004	0.0004	0.0004	0.0005	0.0029	0.0004	0.0004	0.0017	0.0013	7.576e-05	0.0004	0.0001	9.935e-05	0	0.0029	0.0004	0.0008	0.0007	0.0003	0.0003	0.0003	0.0003	0.0011	0.0002	0.0002	0.0003	0.0003	0.0001	0	0	0.0004	0	0	0	0.0004	0	0.0011	0.001	0.78490	D	0.013	0.63918	D	0.83	0.46087	P	0.125	0.32635	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	2.76	0.11515	T	-1.44	0.36586	N	0.183	0.19861	-0.9781	0.35435	T	0.014	0.05417	T	9	0.038519055	0.02275	T	0.011252	0.28682	T	0.031	0.07369	.	.	0.0611884634855	0.05136	0.0741985953379595	0.07356	0.156516380962	0.17663	0.45866343379	0.33127	T	0.11499	0.43324	T	-0.653081	0.00069	T	-0.751416	0.03431	T	0.0163890141993761	0.00407	T	0.556544	0.24942	T	0.034459546	0.03870	0.06891191	0.14451	0.034459546	0.03870	0.06891191	0.14451	-7.34	0.56926	T	.	.	0.116	0.25100	B	.;.;.	.;.;.	0.584370	0.09528	6.305	0.99618289278312355	0.75233	0.06914	0.12939	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00916939067311346	0.11808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.84	1.97	0.25278	-0.454000	0.06845	-0.186000	0.11084	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.591:0.2548:0.1542	3.704	0.07925	203	0.92088	.;.;.	.	.	.	.	.	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	0.004968	0.006803	0.005566	0.000000	0.000000	0.000000	0.013274	0.000000	0.02632	3684.33	33	chrX	54929291	.	C	T	3684.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3;DP=870;ExcessHet=0;FS=4.413;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=-0.953;SOR=0.794	GT:AD:DP:GQ:PL	0/1:111,124:235:99:3698,0,2916	18	0	1	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6053	329440.0	742	chrX	55146104	.	G	A	329440.0	.	AC=23;AF=0.605;AN=38;BaseQRankSum=1.47;DP=13074;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6522;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=26.15;ReadPosRankSum=0.694;SOR=0.726	GT:AD:DP:GQ:PL	0/1:144,544:688:99:16591,0,2190	0	4	15	0
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S,FAM104B:NM_001166701:exon3:c.C259T:p.P87S,FAM104B:NM_001166702:exon3:c.C250T:p.P84S,FAM104B:NM_001166703:exon3:c.C256T:p.P86S	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011073	0.020408	0.009276	0.003953	0.000000	0.035294	0.013274	0.005263	0.3684	42799.2	721	chrX	55146173	.	G	A	42799.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.643;DP=12126;ExcessHet=17.0548;FS=0.637;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=-0.029;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:595,89:684:99:.:.:1399,0,19459:.	5	0	14	0
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X,FAM104B:NM_001166700:exon3:c.C238T:p.Q80X,FAM104B:NM_001166701:exon3:c.C235T:p.Q79X,FAM104B:NM_001166702:exon3:c.C226T:p.Q76X,FAM104B:NM_001166703:exon3:c.C232T:p.Q78X,FAM104B:NM_138362:exon3:c.C235T:p.Q79X	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.038244	0.034014	0.051948	0.011858	0.000000	0.058824	0.026549	0.036842	0.3889	38022.8	651	chrX	55146197	.	G	A	38022.8	.	AC=14;AF=0.389;AN=36;BaseQRankSum=1.95;DP=10894;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=4.79;ReadPosRankSum=-0.18;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:536,87:623:99:.:.:1646,0,18275:.	4	0	14	1
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	248356.0	575	chrX	55146212	.	C	T	248356.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.62;DP=10110;ExcessHet=48.2876;FS=1.42;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26;ReadPosRankSum=1.35;SOR=0.54	GT:AD:DP:GQ:PL	0/1:142,414:556:99:13457,0,2558	0	0	19	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.3684	25836.2	418	chrX	55146247	.	G	C	25836.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.026;DP=7388;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.88;ReadPosRankSum=0.405;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:376,51:427:99:0|1:55146247_G_C:887,0,15444:55146247	5	0	14	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166700:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166701:exon3:c.179_180insA:p.S60Rfs*13,FAM104B:NM_001166702:exon3:c.170_171insA:p.S57Rfs*13,FAM104B:NM_001166703:exon3:c.176_177insA:p.S59Rfs*13,FAM104B:NM_138362:exon3:c.179_180insA:p.S60Rfs*13	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	25152.2	407	chrX	55146252	.	A	AT	25152.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=2.19;DP=7127;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=0.184;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:367,46:413:99:0|1:55146247_G_C:794,0,15160:55146247	5	0	14	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	119400.0	395	chrX	55146254	.	T	C	119400.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.566;DP=7115;ExcessHet=48.2876;FS=6.049;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=-1.393;SOR=0.475	GT:AD:DP:GQ:PL	0/1:169,225:394:99:6756,0,4925	0	0	19	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166700:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166701:exon3:c.176delC:p.A59Efs*8,FAM104B:NM_001166702:exon3:c.167delC:p.A56Efs*8,FAM104B:NM_001166703:exon3:c.173delC:p.A58Efs*8,FAM104B:NM_138362:exon3:c.176delC:p.A59Efs*8	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	24097.2	397	chrX	55146255	.	TG	T	24097.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.27;DP=6566;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.91;ReadPosRankSum=-0.283;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:354,43:397:99:0|1:55146247_G_C:740,0,14732:55146247	5	0	14	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	119815.0	315	chrX	55146275	.	T	G	119815.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.969;DP=5611;ExcessHet=48.2876;FS=13.766;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.27;ReadPosRankSum=-3.985;SOR=0.493	GT:AD:DP:GQ:PL	0/1:110,195:305:99:6777,0,2592	0	0	19	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N,FAM104B:NM_001166700:exon3:c.G152A:p.S51N,FAM104B:NM_001166701:exon3:c.G149A:p.S50N,FAM104B:NM_001166702:exon3:c.G140A:p.S47N,FAM104B:NM_001166703:exon3:c.G146A:p.S49N,FAM104B:NM_138362:exon3:c.G149A:p.S50N	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2647	7637.88	285	chrX	55146283	.	C	T	7637.88	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-0.157;DP=4808;ExcessHet=5.3738;FS=4.353;InbreedingCoeff=-0.3572;MLEAC=10;MLEAF=0.294;MQ=60;MQRankSum=0;QD=3.68;ReadPosRankSum=-1.518;SOR=1.047	GT:AD:DP:GQ:PL	0/1:219,48:267:99:871,0,7943	8	0	9	2
chrX	67546515	67546529	GGCGGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1369_1383del:p.G469_G473del,AR:NM_001348061:exon1:c.1369_1383del:p.G469_G473del,AR:NM_001348063:exon1:c.1369_1383del:p.G469_G473del,AR:NM_001348064:exon1:c.1369_1383del:p.G469_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	5	110	2	1	108	112	0.0178571	.	.	.	430882	not_provided|Androgen_resistance_syndrome|Kennedy_disease|AR-related_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429|MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0052	0	0	0	0.0009	0	0.0019	0.0003458	9	26028	rs768867084	0.0078	0.0078	0.0080	0.0073	0.0544	0.0076	0.0075	0.0511	0.0498	0.0422	0.0148	0.0028	0.0544	0.0030	0.0117	0.0051	0.0094	0.0065	0.0090	0.0089	0.0090	0.0094	0.0244	0.0085	0.0083	0.0226	0.0220	0.0244	0	0.0058	0.0027	0.0098	0.0017	0.0230	0.0027	0.0186	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	6234.88	65	chrX	67546514	.	TGGCGGCGGCGGCGGC	T	6234.88	.	AC=2;AF=0.059;AN=34;BaseQRankSum=0.021;DP=643;ExcessHet=0.145;FS=2.229;InbreedingCoeff=0.1788;MLEAC=2;MLEAF=0.059;MQ=60;MQRankSum=0;QD=30.71;ReadPosRankSum=0.289;SOR=0.91	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,35:35:99:.:.:1558,107,0:.	16	1	0	2
chrX	67546517	67546517	C	0	exonic	AR	.	.	.	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	170	1174	107	66	5	244	0.092385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	216.15	58	chrX	67546517	.	C	*	216.15	.	AC=5;AF=0.156;AN=32;BaseQRankSum=1.31;DP=620;ExcessHet=0.1688;FS=2.79;InbreedingCoeff=0.1387;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=1.53;ReadPosRankSum=-0.423;SOR=1.053	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,35:35:99:.:.:1558,107,0:.	12	1	3	3
chrX	67546529	67546529	C	0	exonic	AR	.	.	.	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	74	1397	32	16	3	67	0.0223933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1143.01	53	chrX	67546529	.	C	*	1143.01	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.006;DP=615;ExcessHet=0;FS=5.7;InbreedingCoeff=0.4867;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=1.15;SOR=1.509	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,35:35:99:.:.:1558,107,0:.	17	1	0	1
chrX	72581151	72581151	T	C	exonic	PHKA1	.	nonsynonymous SNV	PHKA1:NM_001172436:exon30:c.A3307G:p.M1103V,PHKA1:NM_001122670:exon31:c.A3484G:p.M1162V,PHKA1:NM_002637:exon32:c.A3523G:p.M1175V	Muscle glycogenosis, X-linked recessive	0	1506	10	6	0	22	0.00725115	.	.	.	352428	not_specified|not_provided|PHKA1-related_disorder|Glycogen_storage_disease_IXd	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0010362,MedGen:C1845151,OMIM:300559,Orphanet:715	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.285	0.0800604960744	0.0004	0.0015894	0.0019	0.0001	0	0.0002	0.0020	0.0021	0.0048	0.0055	0.0018046	279	154602	rs201573707	0.0010	0.0010	0.0008	0.0013	0.0066	0.0009	0.0009	0.0060	0.0058	7.658e-05	8.525e-05	0.0013	0	0.0015	0.0049	0.0006	0.0015	0.0066	0.0007	0.0008	0.0007	0.0008	0.0054	0.0006	0.0006	0.0033	0.0026	0	0	0.0005	0.0011	0	0.0018	0	0.0009	0.0007	0.0054	0.053	0.39575	T	0.113	0.39190	T	0.001	0.11197	B	0.002	0.12133	B	0.000004	0.62929	D	0.137911	0.993319	0.41901	D	1.555	0.39373	L	-3.24	0.93474	D	-1.06	0.27669	N	0.15	0.31027	-0.1120	0.79821	T	0.620	0.86584	D	10	0.009249747	0.00209	T	0.08006	0.73375	D	0.285	0.60338	.	.	0.697474138103	0.69486	0.2779460491081148	0.27707	0.303140289571	0.32633	0.513917684555	0.40771	T	0.11083	0.42584	T	-0.307509	0.07969	T	-0.212849	0.53422	T	0.0063687064821838	0.00071	T	0.882412	0.61581	D	0.3477827	0.56894	0.37379596	0.62559	0.3684483	0.58470	0.4689969	0.69202	-2.043	0.03490	T	.	.	0.084	0.09627	B	.;.;.;.;.	.;.;.;.;.	2.494877	0.32192	18.97	0.90603892694428922	0.19856	0.83472	0.42587	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.954725974917581	0.28147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.86	3.65	0.40985	1.048000	0.29989	4.101000	0.41864	0.665000	0.62972	0.964000	0.33853	1.000000	0.68203	0.997000	0.79791	0.1825:0.0:0.0:0.8175	8.142	0.30252	238	0.90711	.;.;.;.;.	.	.	.	.	.	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	0.002761	0.000000	0.000000	0.000000	0.000000	0.011765	0.008850	0.005263	0.02632	1648.33	40	chrX	72581151	.	T	C	1648.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.324;DP=776;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=0.207;SOR=0.712	GT:AD:DP:GQ:PL	0/1:63,75:138:99:1662,0,1495	18	0	1	0
chrX	101494036	101494036	-	GGCTGGGGCTGGGGTTGG	exonic	ARMCX4	.	nonframeshift insertion	ARMCX4:NM_001256155:exon2:c.5447_5448insGGCTGGGGCTGGGGTTGG:p.G1820_A1821insVGAGAG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	7.259e-05	0.0002	0	0.0010	9.526e-05	8.277e-05	0.0005	0.0004	0.0002	0.0004	0.0002	0.0010	0.0005	0	6.673e-05	9.272e-05	0	7.644e-05	0.0001	0.0001	0	0.0003	0	0	.	.	0.0003	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1703.77	101	chrX	101494036	.	A	AGGCTGGGGCTGGGGTTGG	1703.77	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.961;DP=1427;ExcessHet=0;FS=19.781;InbreedingCoeff=0.9995;MLEAC=1;MLEAF=0.026;MQ=59.65;MQRankSum=-0.56;QD=25.81;ReadPosRankSum=3.62;SOR=3.593	GT:AD:DP:GQ:PL	1/0:6,14:39:99:1734,513,694	18	0	1	0
chrX	101494036	101494036	-	GGCTGGGGCTGGGGTTGGGGCTGGGGTTGG	exonic	ARMCX4	.	nonframeshift insertion	ARMCX4:NM_001256155:exon2:c.5447_5448insGGCTGGGGCTGGGGTTGGGGCTGGGGTTGG:p.G1820_A1821insVGAGVGAGAG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.872e-05	5.293e-05	0.0001	0	0.0002	5.785e-05	4.9e-05	3.263e-05	2.431e-05	0.0002	0.0001	0.0002	0	0.0006	0	6.067e-05	9.271e-05	8.389e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1703.77	101	chrX	101494036	.	A	AGGCTGGGGCTGGGGTTGGGGCTGGGGTTGG	1703.77	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.961;DP=1427;ExcessHet=0;FS=19.781;InbreedingCoeff=0.9995;MLEAC=1;MLEAF=0.026;MQ=59.65;MQRankSum=-0.56;QD=25.81;ReadPosRankSum=3.62;SOR=3.593	GT:AD:DP:GQ:PL	0/1:6,19:39:99:1734,354,531	18	0	1	0
chrX	101494054	101494054	-	GGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCTGG	exonic	ARMCX4	.	nonframeshift insertion	ARMCX4:NM_001256155:exon2:c.5465_5466insGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCTGG:p.A1823_G1824insEAGAEAGAGAGAEAGAGTEAGA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.539e-05	0.0001	0.0001	0	0.0003	5.569e-05	4.724e-05	0.0001	7.079e-05	0.0001	0.0002	0.0001	0.0003	0.0003	0	5.735e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	7356.21	70	chrX	101494054	.	A	AGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCTGG	7356.21	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.739;DP=1142;ExcessHet=10.4813;FS=292.452;InbreedingCoeff=-0.1297;MLEAC=2;MLEAF=0.125;MQ=59.59;MQRankSum=0;QD=23.06;ReadPosRankSum=-0.736;SOR=2.957	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:13,27:40:99:.:.:1090,0,447:.	7	0	1	11
chrX	105944013	105944013	A	C	exonic	NRK	.	nonsynonymous SNV	NRK:NM_198465:exon24:c.A4031C:p.K1344T	.	436	1084	1	1	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.28145448509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.878e-06	2.739e-06	2.755e-06	3.159e-06	.	7.7e-07	2.1e-07	.	.	0	0	0	0	0	0	0	6.775e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.983	0.60381	D	0.874	0.62049	P	0.001948	0.37596	N	0.121200	0.607983	0.32596	D	2.455	0.71248	M	3.58	0.04594	T	-5.21	0.83763	D	0.308	0.34767	-1.1969	0.00174	T	0.040	0.17319	T	10	0.5968519	0.66690	D	0.281454	0.90245	D	0.305	0.62620	0.539	0.65018	0.38058745637	0.37675	0.43157515873940283	0.43074	.	.	0.603740394115	0.53432	T	0.302663	0.67505	T	-0.13085	0.31359	T	-0.425734	0.30421	T	0.994605123996735	0.85995	D	0.788221	0.42759	T	0.8328539	0.86102	0.83097255	0.90248	0.8328539	0.86103	0.83097255	0.90248	-7.058	0.54456	T	.	.	0.331	0.55313	B	.	.	4.039999	0.59810	24.1	0.99775441254251618	0.86260	0.97751	0.76869	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.975303598970838	0.29621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.44	5.44	0.79348	7.413000	0.79318	9.210000	0.79232	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	1.0:0.0:0.0:0.0	13.613	0.61562	37	0.98026	Citron homology (CNH) domain|Citron homology (CNH) domain|Citron homology (CNH) 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	.	.	.	.	.	.	.	.	0.02632	1603.33	46	chrX	105944013	.	A	C	1603.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.346;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.333;SOR=0.731	GT:AD:DP:GQ:PL	0/1:66,70:136:99:1617,0,1697	18	0	1	0
chrX	108077292	108077297	GAGCCA	-	exonic	VSIG1	.	nonframeshift deletion	VSIG1:NM_182607:exon7:c.1075_1080del:p.P366_E367del,VSIG1:NM_001170553:exon8:c.1183_1188del:p.P402_E403del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.28e-05	0	0	0.0002	0	2.085e-05	0	0	3.84e-05	1	26028	rs769798745	1.548e-05	1.548e-05	1.225e-05	2.2e-05	0.0002	9.43e-06	7.71e-06	7.01e-06	5.12e-06	0	0	0	0	0	0.0002	1.306e-05	6.508e-05	3.694e-05	8.923e-06	8.706e-06	1.285e-05	0	1.879e-05	0	0	.	.	0	0	0	0	0	0	0	1.879e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1961.29	36	chrX	108077291	.	GGAGCCA	G	1961.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.946;DP=761;ExcessHet=0;FS=1.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.61;ReadPosRankSum=1.31;SOR=0.496	GT:AD:DP:GQ:PL	0/1:49,51:100:99:1975,0,1892	18	0	1	0
chrX	112790764	112790764	G	A	exonic	AMOT	.	nonsynonymous SNV	AMOT:NM_001113490:exon7:c.C1945T:p.P649S,AMOT:NM_133265:exon8:c.C718T:p.P240S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.142890131019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.732e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.13349	T	0.8	0.10750	T	0.022	0.18677	B	0.015	0.17295	B	0.000344	0.45440	D	0.262605	0.814389	0.34686	D	-0.715	0.01801	N	2.38	0.20255	T	-1.52	0.36980	N	0.048	0.02179	-1.0266	0.21560	T	0.021	0.09009	T	10	0.09905237	0.17951	T	0.14289	0.82524	D	0.068	0.19811	0.114	0.02306	0.332276917938	0.32835	0.1357892577833818	0.13502	0.310463610518	0.33361	0.360307365656	0.19431	T	0.03434	0.23282	T	-0.4421	0.01257	T	-0.872823	0.00716	T	0.396386086940765	0.28806	T	0.806819	0.47234	T	0.112610966	0.26602	0.15898158	0.37099	0.112610966	0.26602	0.15898158	0.37098	-8.736	0.65981	D	0.08491375776102549	0.04735	0.082	0.08802	B	.;.;.;.;.	.;.;.;.;.	2.412707	0.31014	18.61	0.99477297305493873	0.66687	0.91794	0.54277	D	AEFBI	.	.	.	.	.	.	.	.	.	0.834320389041121	0.24750	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.08	5.18	0.71140	0.932000	0.28484	7.307000	0.58111	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.134000	0.19723	0.0915:0.2061:0.7024:0.0	9.047	0.35516	877	0.30165	Angiomotin, C-terminal;.;Angiomotin, C-terminal;Angiomotin, C-terminal;Angiomotin, C-terminal	.	.	.	.	.	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	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	788.33	34	chrX	112790764	.	G	A	788.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.042;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=0.005;SOR=0.558	GT:AD:DP:GQ:PL	0/1:47,31:78:99:802,0,1397	18	0	1	0
chrX	120115543	120115543	C	T	exonic	RHOXF1	.	nonsynonymous SNV	RHOXF1:NM_139282:exon1:c.G320A:p.R107H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.0615139293582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.642e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	0.25664	T	0.115	0.36630	T	0.824	0.45836	P	0.18	0.35854	B	.	.	.	.	1	0.08975	N	3.175	0.88760	M	-5.51	0.99156	D	-3.34	0.66325	D	0.402	0.44283	0.594	0.91819	D	0.912	0.97076	D	9	0.8326403	0.82424	D	0.061514	0.68356	D	0.487	0.77528	0.814	0.92925	0.933318382152	0.93262	0.6986523913552827	0.69806	0.770489779372	0.64737	0.398795604706	0.24901	T	0.850573	0.96596	D	0.123432	0.66716	D	-0.0604753	0.66300	T	0.924445986747742	0.58562	D	0.587441	0.21491	T	0.08212767	0.18904	0.12177641	0.29379	0.08212767	0.18903	0.12177641	0.29378	-6.778	0.52395	T	.	.	0.374	0.58078	A	.	.	1.257085	0.16543	12.61	0.99712789262564239	0.81493	0.00827	0.03334	N	AEFBI	.	.	.	.	.	.	.	.	.	6.04527906799295E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.73	-2.61	0.05811	-0.459000	0.06805	-2.639000	0.03520	-0.220000	0.07995	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1979:0.2584:0.1937:0.3501	0.293	0.00244	900	0.24599	Homeobox domain|Homeobox domain|Homeobox domain|Homeobox 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	.	.	.	.	.	.	.	.	0.02632	234.33	36	chrX	120115543	.	C	T	234.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.687;DP=746;ExcessHet=0;FS=64.566;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.91;ReadPosRankSum=0.71;SOR=6.518	GT:AD:DP:GQ:PL	0/1:98,25:123:99:248,0,2340	18	0	1	0
chrX	124064026	124064026	G	A	exonic	STAG2	.	nonsynonymous SNV	STAG2:NM_001375375:exon19:c.G2000A:p.R667Q,STAG2:NM_006603:exon19:c.G2000A:p.R667Q,STAG2:NM_001042749:exon20:c.G2000A:p.R667Q,STAG2:NM_001042750:exon20:c.G2000A:p.R667Q,STAG2:NM_001042751:exon20:c.G2000A:p.R667Q,STAG2:NM_001282418:exon20:c.G2000A:p.R667Q	.	.	.	.	.	.	.	.	.	.	.	1906394	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.166	0.478537818563	9.5e-05	.	1.327e-05	0	0	0	0	2.471e-05	0	0	6.5e-06	1	154602	rs369728409	5.936e-05	6.101e-05	5.31e-05	7.21e-05	9.954e-05	4.771e-05	4.347e-05	4.465e-05	4.022e-05	3.795e-05	0	0	9.954e-05	0	0	5.834e-05	0.0002	5.578e-05	4.495e-05	5.233e-05	1.286e-05	0.0001	9.432e-05	1.714e-05	1.054e-05	3.703e-05	2.398e-05	0	0	0	0	0	0	0	9.432e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.021	0.20732	B	0.012	0.16012	B	0.000000	0.84330	D	0.000000	0.893056	0.35996	D	-0.805	0.01590	N	1.5	0.31205	T	0.52	0.02853	N	0.389	0.46555	-1.0237	0.22508	T	0.028	0.12103	T	10	0.14950576	0.28293	T	0.478538	0.94802	D	0.166	0.42578	.	.	0.359705090764	0.35578	0.3108069459885982	0.30993	1.31460413282	0.83306	0.680814385414	0.64385	T	0.023429	0.17885	T	-0.377508	0.03230	T	-0.590304	0.13640	T	0.130686912643707	0.15445	T	0.915408	0.69775	D	0.43141758	0.62844	0.31683347	0.57661	0.43141758	0.62845	0.31683347	0.57661	-1.556	0.02198	T	0.048994485426612784	0.00784	0.099	0.18746	B	.;.;.;.;.	.;.;.;.;.	3.964647	0.58176	23.9	0.77097105624933393	0.11735	0.40205	0.26385	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999999994770195	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5	5.5	0.81386	3.619000	0.53937	9.916000	0.82466	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	18.445	0.90627	924	0.18029	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	940.33	34	chrX	124064026	.	G	A	940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.053;DP=594;ExcessHet=0;FS=6.384;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=0.321;SOR=0.187	GT:AD:DP:GQ:PL	0/1:26,35:61:99:954,0,694	18	0	1	0
chrX	124334728	124334728	G	C	exonic	TEX13D	.	nonsynonymous SNV	TEX13D:NM_001355534:exon1:c.G1811C:p.R604P	.	994	500	14	12	2	40	0.0366089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006147	16	26028	rs112652307	5.142e-05	0.0002	5.115e-05	5.205e-05	5.655e-05	3.849e-05	3.413e-05	3.781e-05	3.355e-05	5.655e-05	0	0.0002	0	6.249e-05	0	5.167e-05	6.029e-05	0	0.0031	0.0096	0.0042	0	0.0065	0.0028	0.0027	0.0056	0.0053	0.0065	0.0126	0.0015	0.0042	0.0003	0	0.0086	0.0022	0.0034	0.0005	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.05799	.	.	.	.	.	.	.	0.00856328	0.00194	T	.	.	.	.	.	.	.	.	.	0.01063012315188242	0.01024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176682	0.01716	T	0.14852123	0.33903	0.15160638	0.35705	0.14852123	0.33903	0.15160638	0.35704	3.512	0.00013	T	.	.	0.113	0.22428	B	.	.	-0.722121	0.01270	0.066	0.34077170413393026	0.02065	0.00096	0.00628	N	AEFDHCIJ	.	.	.	.	.	.	.	.	.	0.564762162845724	0.21443	.	.	.	.	.	.	.	.	.	.	.	.	0.0573581	0.13677	2.11	-2.53	0.05959	-1.924000	0.01657	-3.983000	0.02412	-0.302000	0.06182	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3445:0.2185:0.1695:0.2675	0.108	0.00050	962	0.08456	.	.	.	.	.	.	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	1275.52	33	chrX	124334728	.	G	C	1275.52	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.18;DP=711;ExcessHet=0;FS=9.62;InbreedingCoeff=0.6381;MLEAC=1;MLEAF=0.026;MQ=53.12;MQRankSum=1.87;QD=11.49;ReadPosRankSum=1.29;SOR=1.555	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,8:72:99:0|1:124334705_A_G:102,0,2424:124334705	18	0	1	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	1139.66	111	chrX	135580144	.	G	C	1139.66	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-0.835;DP=1343;ExcessHet=31.086;FS=227.944;InbreedingCoeff=-0.8004;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.257;SOR=12.389	GT:AD:DP:GQ:PL	0/1:63,27:96:36:36,0,990	2	0	17	0
chrX	136231696	136231696	T	C	exonic	MAP7D3	.	nonsynonymous SNV	MAP7D3:NM_001173517:exon7:c.A1156G:p.S386G,MAP7D3:NM_001173516:exon8:c.A1207G:p.S403G,MAP7D3:NM_024597:exon8:c.A1261G:p.S421G	.	419	1098	3	2	0	7	0.00317749	.	.	.	3211133	MAP7D3-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.018	.	.	0.00211921	0.0014	0.0001	0.0001	0	0	6.259e-05	0	0.0118	0.001423	220	154602	rs746132174	0.0005	0.0005	0.0003	0.0009	0.0093	0.0005	0.0005	0.0087	0.0084	0	0	0	0	0	0.0012	3.091e-05	0.0004	0.0093	0.0002	0.0002	0.0001	0.0003	0.0073	0.0001	9.309e-05	0.0048	0.0040	0	0	0	0	0	0	0	0	0	0.0073	0.138	0.27783	T	0.029	0.58613	D	0.1	0.25713	B	0.038	0.23361	B	0.463058	0.12368	N	0.658682	1	0.08975	N	1.15	0.29295	L	3.14	0.07920	T	-1.94	0.45042	N	0.117	0.10626	-0.9771	0.35660	T	0.017	0.06950	T	10	0.0038897097	0.00074	T	.	.	.	0.018	0.03083	.	.	0.124217242631	0.12060	0.05581145503841251	0.05522	0.0719336447702	0.08059	0.225848734379	0.01675	T	0.019504	0.21048	T	-0.811169	0.00006	T	-0.930003	0.00332	T	0.0184895414335449	0.00565	T	0.421758	0.12390	T	0.07480482	0.16812	0.06443214	0.12913	0.07480482	0.16812	0.06443214	0.12912	-6.186	0.47809	T	0.2207883752694084	0.29768	0.077	0.09191	B	.;.;.;.	.;.;.;.	0.077120	0.04842	1.438	0.92150360204492321	0.21510	0.08805	0.14679	N	AEFBI	.	.	.	.	.	.	.	.	.	0.773137564410626	0.23707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8	1.16	0.19936	0.069000	0.14419	0.454000	0.18551	-0.339000	0.05715	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1725:0.1967:0.0:0.6307	3.491	0.07201	778	0.48011	.;.;.;.	.	.	.	.	.	Likely benign	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	1	0	.	.	.	.	.	.	.	.	0.02632	2080.33	34	chrX	136231696	.	T	C	2080.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.409;DP=755;ExcessHet=0;FS=6.427;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=-0.939;SOR=1.206	GT:AD:DP:GQ:PL	0/1:67,70:137:99:2094,0,2058	18	0	1	0
chrX	141907747	141907749	CTT	-	exonic	MAGEC1	.	nonframeshift deletion	MAGEC1:NM_005462:exon4:c.2343_2345del:p.F783del	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010596	0.0007	0	0	0	0	0	0	0.0058	0.0002305	6	26028	rs769737571	0.0003	0.0003	0.0002	0.0005	0.0057	0.0003	0.0003	0.0052	0.0050	3.792e-05	0	0	0	0	0.0005	1.188e-05	0.0004	0.0057	0.0002	0.0002	0.0002	0.0002	0.0070	0.0001	0.0001	0.0045	0.0037	3.337e-05	0	0	0	0	0	0	3.818e-05	0	0.0070	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002066	0.000000	0.000000	0.000000	0.000000	0.011765	0.000000	0.010526	0.02632	5401.29	42	chrX	141907746	.	CCTT	C	5401.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.064;DP=1159;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.29;ReadPosRankSum=2.2;SOR=0.693	GT:AD:DP:GQ:PL	0/1:140,140:280:99:5415,0,5340	18	0	1	0
chrX	152701755	152701755	T	C	exonic	MAGEA3	.	nonsynonymous SNV	MAGEA3:NM_005362:exon3:c.T923C:p.V308A	.	436	1073	9	4	0	17	0.00785945	.	.	.	706134	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1290943393	0.0070	0.0071	0.0070	0.0071	0.0079	0.0069	0.0068	0.0078	0.0077	0.0005	0.0034	0.0073	0.0002	0.0028	0.0027	0.0079	0.0070	0.0056	0.0046	0.0046	0.0049	0.0039	0.0074	0.0043	0.0041	0.0068	0.0065	0.0008	0.0015	0.0048	0.0072	0.0009	0.0024	0	0.0074	0.0027	0.0019	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7	0.00742	T	3.31	0.00104	N	0.066	0.03841	.	.	.	.	.	.	.	0.013180196	0.00280	T	.	.	.	.	.	.	.	.	.	0.3428355628592226	0.34196	.	.	.	.	.	0.118769	0.43982	T	.	.	.	.	.	.	.	.	.	0.326967	0.06756	T	.	.	.	.	.	.	.	.	-1.168	0.01206	T	.	.	0.090	0.12560	B	.;.	.;.	-1.003543	0.00766	0.024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.412000	0.07197	.	.	-0.668000	0.04312	0.000000	0.06391	0.000000	0.08366	0.048000	0.15020	.	.	.	719	0.55657	MAGE homology domain;MAGE 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	1	0	.	.	.	.	.	.	.	.	0.02632	3909.33	33	chrX	152701755	.	T	C	3909.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.352;DP=846;ExcessHet=0;FS=1.045;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.44;MQRankSum=-8.191;QD=17.77;ReadPosRankSum=1.29;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,105:220:99:0|1:152701755_T_C:3923,0,4477:152701755	18	0	1	0
chrX	152701759	152701759	G	T	exonic	MAGEA3	.	nonsynonymous SNV	MAGEA3:NM_005362:exon3:c.G927T:p.L309F	.	435	1074	9	4	0	17	0.00785219	.	.	.	706135	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.029	0.00113625805333	.	.	.	.	.	.	.	.	.	.	.	.	.	rs61750034	0.0069	0.0069	0.0069	0.0070	0.0079	0.0068	0.0067	0.0077	0.0076	0.0005	0.0024	0.0073	6.632e-05	0.0027	0.0024	0.0079	0.0069	0.0055	0.0045	0.0045	0.0048	0.0036	0.0073	0.0041	0.0040	0.0067	0.0065	0.0007	0.0015	0.0043	0.0068	0.0008	0.0021	0	0.0073	0.0026	0.0015	0.022	0.48642	D	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.68	0.04151	T	-3.56	0.68880	D	0.035	0.01004	-0.9883	0.33027	T	0.020	0.08546	T	9	0.067270905	0.09348	T	0.001136	0.01385	T	.	.	0.657	0.79482	0.496628014799	0.49298	0.31023172987906583	0.30936	.	.	0.419956505299	0.27829	T	0.523	0.83353	D	-0.449015	0.01145	T	-0.882755	0.00631	T	0.107307921057315	0.13142	T	0.329367	0.06881	T	0.4727201	0.65457	0.31272355	0.57273	0.4727201	0.65458	0.31272355	0.57272	-6.007	0.46339	T	.	.	0.099	0.16800	B	.;.	.;.	0.726894	0.10963	7.625	0.88735772152324699	0.18213	0.03235	0.08251	N	AEFGCI	.	.	.	.	.	.	.	.	.	3.87365975753626E-5	0.03775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.879	-0.321	0.12087	0.095000	0.14966	.	.	0.340000	0.19754	0.000000	0.06391	0.000000	0.08366	0.095000	0.18041	0.0:0.4312:0.5688:0.0	4.317	0.10440	719	0.55657	.;.	.	.	.	.	.	Likely benign	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	1	0	.	.	.	.	.	.	.	.	0.02632	3983.33	33	chrX	152701759	.	G	T	3983.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.448;DP=844;ExcessHet=0;FS=1.641;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.43;MQRankSum=-7.934;QD=18.11;ReadPosRankSum=1.16;SOR=0.82	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,107:220:99:0|1:152701755_T_C:3997,0,4402:152701755	18	0	1	0
chrX	153073262	153073262	T	G	exonic	PNMA6A	.	nonsynonymous SNV	PNMA6A:NM_032882:exon2:c.T200G:p.V67G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0369201328504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.725e-05	0.0002	5.377e-05	0	8.781e-05	1.997e-05	1.559e-05	2.054e-05	1.391e-05	8.781e-05	8.319e-05	0	0	0	0	4.466e-05	5.765e-05	0	0	3.293e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.33	0.16492	T	-6.52	0.91695	D	0.504	0.53620	-1.0739	0.08577	T	0.085	0.33269	T	8	0.5577507	0.64614	D	0.355273	0.92373	D	0.234	0.53644	0.66	0.79791	0.154104182512	0.14974	0.44074457449472765	0.43991	.	.	0.797610878944	0.81599	T	0.07346	0.34703	T	-0.0376367	0.46298	T	-0.291839	0.45580	T	0.879471444823567	0.52944	D	0.262774	0.04248	T	0.09392669	0.22070	0.15312491	0.35995	0.09392669	0.22070	0.15312491	0.35994	-10.718	0.78089	D	.	.	0.519	0.65421	A	.	.	2.561390	0.33175	19.26	0.9900846234778935	0.50314	0.00385	0.01942	N	AEFI	.	.	.	.	.	.	.	.	.	1.28807437351111E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.14	1.14	0.19817	-0.168000	0.09914	.	.	0.467000	0.21759	0.000000	0.06391	0.041000	0.21590	0.110000	0.18741	0.0:0.0:0.0:1.0	4.200	0.09923	77	0.96778	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.0625	37.55	10	chrX	153073262	.	T	G	37.55	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.404;DP=180;ExcessHet=0;FS=0;InbreedingCoeff=-0.1768;MLEAC=2;MLEAF=0.125;MQ=27;MQRankSum=0;QD=2.35;ReadPosRankSum=0.567;SOR=0.105	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:11,5:16:42:.:.:42,0,274:.	7	0	1	11
chrX	154461424	154461424	C	G	exonic	PLXNA3	.	nonsynonymous SNV	PLXNA3:NM_017514:exon3:c.C920G:p.A307G	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.115605506292	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.09	0.40267	T	.	.	.	.	.	.	0.000001	0.62929	D	0.055998	0.999867	0.50061	D	.	.	.	2.5	0.14408	T	-1.29	0.32387	N	0.497	0.53006	-1.1157	0.02622	T	0.045	0.19437	T	10	0.41743043	0.56636	T	0.115606	0.79484	D	0.085	0.24743	0.716	0.85141	0.294470080753	0.29051	0.3010057702562346	0.30013	.	.	0.486056864262	0.36892	T	.	.	.	-0.288697	0.09767	T	-0.652469	0.08782	T	0.602166831493378	0.36486	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18787	B	.	.	2.989099	0.39896	21.1	0.9924636313664239	0.56727	0.90940	0.52550	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999246383453	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.08	4.21	0.48984	2.736000	0.47058	0.102000	0.14662	0.596000	0.33519	0.983000	0.35670	0.000000	0.08366	0.958000	0.51230	0.1636:0.8364:0.0:0.0	12.908	0.57555	74	0.96871	.	.	.	.	.	.	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	1787.33	44	chrX	154461424	.	C	G	1787.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.949;DP=753;ExcessHet=0;FS=3.457;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.126;SOR=1.046	GT:AD:DP:GQ:PL	0/1:59,63:122:99:1801,0,1664	18	0	1	0
chrX	154534419	154534419	G	A	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon6:c.C653T:p.S218F,G6PD:NM_001042351:exon6:c.C563T:p.S188F,G6PD:NM_001360016:exon6:c.C563T:p.S188F	Favism, Autosomal dominant;Hemolytic anemia due to G6PD deficiency, X-linked recessive	1	1326	123	72	0	267	0.0914697	.	.	YES	25407	not_provided|Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency|Malaria,_susceptibility_to|G6PD_CAGLIARI|G6PD_MEDITERRANEAN|G6PD_SASSARI|G6PD_deficiency|Inborn_genetic_diseases|See_cases|G6PD_deficient_hemolytic_anemia|G6PD-related_disorder|Hemolytic_anemia,_G6PD_deficient_(favism)	MedGen:C3661900|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|.|.|.|MONDO:MONDO:0005775,MedGen:C2939465|MeSH:D030342,MedGen:C0950123|.|.|.|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.811	.	0.0007	0.000794702	0.0027	0.0004	0.0006	0	0	0.0011	0.0112	0.0160	0.0024838	384	154602	rs5030868	0.0015	0.0015	0.0011	0.0023	0.0435	0.0014	0.0014	0.0383	0.0363	0.0003	2.842e-05	0.0055	0	0	0.0435	0.0002	0.0032	0.0189	0.0007	0.0008	0.0006	0.0011	0.0149	0.0006	0.0005	0.0113	0.0100	0.0001	0	0	0.0060	0	0	0.0138	0.0002	0.0046	0.0149	0.017	0.52492	D	0.008	0.67890	D	0.022	0.18677	B	0.039	0.23607	B	0.000101	0.50451	D	0.177639	1	0.81001	D	3.42	0.91902	M	-4.87	0.98279	D	-4.22	0.75935	D	0.562	0.70615	0.957	0.96492	D	0.933	0.97805	D	10	0.012398928	0.00267	T	.	.	.	0.811	0.93892	.	.	0.989763325404	0.98964	0.927394258905308	0.92717	0.202134561341	0.22635	0.361571013927	0.19615	T	0.958441	0.99448	D	0.148364	0.69115	D	0.453964	0.93676	D	0.128705447749552	0.15261	T	0.953605	0.82399	D	0.90304965	0.91658	0.8944889	0.94585	0.9519563	0.96465	0.8714105	0.92964	-11.526	0.83968	D	0.6452008465600814	0.71653	0.361	0.69938	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.714215	0.53042	23.3	0.99560193252273865	0.71707	0.94225	0.60494	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999999995	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.65	5.65	0.86881	5.542000	0.66927	9.812000	0.81753	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.929	0.79431	80	0.96670	Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;.;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.025694	0.000000	0.007421	0.075099	0.000000	0.023529	0.013274	0.047368	0.1316	6506.33	38	chrX	154534419	.	G	A	6506.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.19;DP=872;ExcessHet=0;FS=0.472;InbreedingCoeff=0.7697;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=21.54;ReadPosRankSum=0.8;SOR=0.732	GT:AD:DP:GQ:PL	0/1:81,59:140:99:1552,0,2179	16	2	1	0